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    PAX6 paired box 6 [ Homo sapiens (human) ]

    Gene ID: 5080, updated on 3-Jun-2024

    Summary

    Official Symbol
    PAX6provided by HGNC
    Official Full Name
    paired box 6provided by HGNC
    Primary source
    HGNC:HGNC:8620
    See related
    Ensembl:ENSG00000007372 MIM:607108; AllianceGenome:HGNC:8620
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AN; AN1; AN2; FVH1; MGDA; WAGR; ASGD5; D11S812E
    Summary
    This gene encodes paired box protein Pax-6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to a conserved paired box domain, a hallmark feature of this gene family, the encoded protein also contains a homeobox domain. Both domains are known to bind DNA and function as regulators of gene transcription. Activity of this protein is key in the development of neural tissues, particularly the eye. This gene is regulated by multiple enhancers located up to hundreds of kilobases distant from this locus. Mutations in this gene or in the enhancer regions can cause ocular disorders such as aniridia and Peter's anomaly. Use of alternate promoters and alternative splicing results in multiple transcript variants encoding different isoforms. Interestingly, inclusion of a particular alternate coding exon has been shown to increase the length of the paired box domain and alter its DNA binding specificity. Consequently, isoforms that carry the shorter paired box domain regulate a different set of genes compared to the isoforms carrying the longer paired box domain. [provided by RefSeq, Mar 2019]
    Expression
    Broad expression in brain (RPKM 3.5), stomach (RPKM 2.6) and 15 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PAX6 in Genome Data Viewer
    Location:
    11p13
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (31789026..31817961, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (31924847..31953767, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (31810574..31839509, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene doublecortin domain containing 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:31326823-31328022 Neighboring gene CYCS pseudogene 25 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4556 Neighboring gene MPRA-validated peak1237 silencer Neighboring gene MPRA-validated peak1238 silencer Neighboring gene DnaJ heat shock protein family (Hsp40) member C24 Neighboring gene MPRA-validated peak1240 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:31531307-31532196 Neighboring gene inner mitochondrial membrane peptidase subunit 1 Neighboring gene HCNE8 enhancer downstream of PAX6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:31565420-31566029 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:31566030-31566638 Neighboring gene RB enhancer downstream of PAX6 Neighboring gene elongator acetyltransferase complex subunit 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4558 Neighboring gene E100 enhancer downstream of PAX6 Neighboring gene PAX6 downstream regulatory region Neighboring gene E60 enhancer downstream of PAX6 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:31800787-31801986 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:31814755-31814968 Neighboring gene enhancer region in intron 7 of PAX6 Neighboring gene regulatory region in intron 4 of PAX6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:31827075-31827744 Neighboring gene PAX6 upstream regulatory region Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3219 Neighboring gene VISTA enhancer hs1531 Neighboring gene PAX6 antisense RNA 1 Neighboring gene PAX6 upstream antisense RNA Neighboring gene ReSE screen-validated silencer GRCh37_chr11:31960853-31961050 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4559 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4560 Neighboring gene VISTA enhancer hs855 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:32008494-32008994 Neighboring gene uncharacterized LOC107984420

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    11p partial monosomy syndrome
    MedGen: C0206115 OMIM: 194072 GeneReviews: PAX6-Related Aniridia
    Compare labs
    Aniridia 1
    MedGen: C0344542 OMIM: 106210 GeneReviews: PAX6-Related Aniridia
    Compare labs
    Anophthalmia-microphthalmia syndrome
    MedGen: C5680330 GeneReviews: Not available
    Compare labs
    Autosomal dominant keratitis
    MedGen: C1835698 OMIM: 148190 GeneReviews: Not available
    Compare labs
    Coloboma of optic nerve
    MedGen: C0155299 OMIM: 120430 GeneReviews: Not available
    Compare labs
    Coloboma, ocular, autosomal dominant
    MedGen: CN263371 OMIM: 120200 GeneReviews: Not available
    Compare labs
    Foveal hypoplasia 1
    MedGen: C3805604 OMIM: 136520 GeneReviews: Not available
    Compare labs
    Irido-corneo-trabecular dysgenesis
    MedGen: C0344559 OMIM: 604229 GeneReviews: Not available
    Compare labs
    Isolated optic nerve hypoplasia
    MedGen: C1833797 OMIM: 165550 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2015-11-05)

    ClinGen Genome Curation Page
    Triplosensitivity

    Little evidence for dosage pathogenicity (Last evaluated 2015-11-05)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Meta-analysis identifies common variants associated with body mass index in east Asians.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC17209

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription factor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
     
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IEA
    Inferred from Electronic Annotation
    more info
     
    enables HMG box domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables R-SMAD binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables RNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA polymerase II core promoter sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables chromatin DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables co-SMAD binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone acetyltransferase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables minor groove of adenine-thymine-rich DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transcription cis-regulatory region binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables transcription coregulator binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables ubiquitin protein ligase binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in DNA demethylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in anatomical structure development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in animal organ morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in astrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in axon guidance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in blood vessel development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell fate determination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to fibroblast growth factor stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to glucose stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to insulin stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to leukemia inhibitory factor IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to prostaglandin E stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in central nervous system development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cerebellum development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cerebral cortex regionalization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in commitment of neuronal cell to specific neuron type in forebrain IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cornea development in camera-type eye IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in dorsal/ventral axis specification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic camera-type eye morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in establishment of mitotic spindle orientation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in eye development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in eye photoreceptor cell development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in forebrain dorsal/ventral pattern formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in forebrain-midbrain boundary formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glucose homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in habenula development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in insulin metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in interkinetic nuclear migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in iris morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in keratinocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lacrimal gland development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in learned vocalization behavior or vocal learning IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lens development in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of neuroblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of neurogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in nervous system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neural crest cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuroblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron fate commitment NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in olfactory bulb mitral cell layer development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in oligodendrocyte cell fate specification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pancreatic A cell development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in pituitary gland development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell fate specification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of core promoter binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of epithelial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of glutamatergic neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of miRNA transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of neuroblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of neuron migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein localization to organelle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of asymmetric cell division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of neuron projection development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of timing of cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in response to ethanol IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to wounding IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in retina development in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in rhombomere morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in salivary gland morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sensory neuron migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in signal transduction involved in regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in type B pancreatic cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ventral spinal cord development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in visual perception TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    paired box protein Pax-6
    Names
    Aniridia 1
    Aniridia 2
    alternative protein PAX6
    aniridia type II protein
    oculorhombin
    paired box 6 PAX6-12a isoform
    paired box 6 PAX6A-ASdel6 isoform
    paired box 6 PAX6A-ASdel6-AS7 isoform
    paired box 6 PAX6A-del6 isoform
    paired box 6 PAX6B-ASdel6 isoform
    paired box 6 PAX6D isoform
    paired box homeotic gene-6

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008679.1 RefSeqGene

      Range
      5001..38170
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_720

    mRNA and Protein(s)

    1. NM_000280.6NP_000271.1  paired box protein Pax-6 isoform a

      See identical proteins and their annotated locations for NP_000271.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform a. Variants 1, 3, 6, 7, and 12-16 all encode the same isoform (a).
      Source sequence(s)
      M93650, Z83307, Z95332
      Consensus CDS
      CCDS31451.1
      UniProtKB/Swiss-Prot
      P26367, Q6N006, Q99413
      UniProtKB/TrEMBL
      B3KQG1, Q66SS1
      Related
      ENSP00000495109.1, ENST00000643871.1
      Conserved Domains (2) summary
      smart00351
      Location:4128
      PAX; Paired Box domain
      pfam00046
      Location:214267
      Homeobox; Homeobox domain
    2. NM_001127612.3NP_001121084.1  paired box protein Pax-6 isoform a

      See identical proteins and their annotated locations for NP_001121084.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. It initiates from the A (P0) promoter. Variants 1, 3, 6, 7, and 12-16 all encode the same isoform (a).
      Source sequence(s)
      AK314470, BM557761, BP394398, DA183294
      Consensus CDS
      CCDS31451.1
      UniProtKB/Swiss-Prot
      P26367, Q6N006, Q99413
      UniProtKB/TrEMBL
      B3KQG1, Q66SS1
      Related
      ENSP00000241001.8, ENST00000241001.13
      Conserved Domains (2) summary
      smart00351
      Location:4128
      PAX; Paired Box domain
      pfam00046
      Location:214267
      Homeobox; Homeobox domain
    3. NM_001258462.3NP_001245391.1  paired box protein Pax-6 isoform b

      See identical proteins and their annotated locations for NP_001245391.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and includes an alternate in-frame exon in the 5' coding region, compared to variant 1. It initiates from the A (P0) promoter. The encoded isoform (b, also known as 5a) is longer than isoform a. Variants 2, 4, 5, 8, and 17-19 all encode the same isoform (b).
      Source sequence(s)
      AB593092, DA183294, Z83307
      Consensus CDS
      CCDS31452.1
      UniProtKB/TrEMBL
      B3KQG1, F1T0F8
      Related
      ENSP00000492315.2, ENST00000638914.3
      Conserved Domains (2) summary
      smart00351
      Location:4142
      PAX; Paired Box domain
      pfam00046
      Location:228281
      Homeobox; Homeobox domain
    4. NM_001258463.2NP_001245392.1  paired box protein Pax-6 isoform b

      See identical proteins and their annotated locations for NP_001245392.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and includes an alternate in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (b, also known as 5a) is longer than isoform a. Variants 2, 4, 5, 8, and 17-19 all encode the same isoform (b).
      Source sequence(s)
      AB593093, Z83307, Z95332
      Consensus CDS
      CCDS31452.1
      UniProtKB/TrEMBL
      B3KQG1, F1T0F8
      Related
      ENSP00000492476.1, ENST00000639409.1
      Conserved Domains (2) summary
      smart00351
      Location:4142
      PAX; Paired Box domain
      pfam00046
      Location:228281
      Homeobox; Homeobox domain
    5. NM_001258464.2NP_001245393.1  paired box protein Pax-6 isoform a

      See identical proteins and their annotated locations for NP_001245393.1

      Status: REVIEWED

      Description
      Transcript Variant:This variant (6) uses an alternate splice site in the 5' UTR compared to variant 1. It initiates from the P1 promoter. Variants 1, 3, 6, 7, and 12-16 all encode the same isoform (a).
      Source sequence(s)
      BC011953, DA078958, Z83307
      Consensus CDS
      CCDS31451.1
      UniProtKB/Swiss-Prot
      P26367, Q6N006, Q99413
      UniProtKB/TrEMBL
      B3KQG1, Q66SS1
      Related
      ENSP00000491295.1, ENST00000640610.1
      Conserved Domains (2) summary
      smart00351
      Location:4128
      PAX; Paired Box domain
      pfam00046
      Location:214267
      Homeobox; Homeobox domain
    6. NM_001258465.3NP_001245394.1  paired box protein Pax-6 isoform a

      See identical proteins and their annotated locations for NP_001245394.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 1. It initiates from the B (P1) promoter. Variants 1, 3, 6, 7, and 12-16 all encode the same isoform (a).
      Source sequence(s)
      AY707088, DA079367, M77844, Z83307
      Consensus CDS
      CCDS31451.1
      UniProtKB/Swiss-Prot
      P26367, Q6N006, Q99413
      UniProtKB/TrEMBL
      B3KQG1, Q66SS1
      Related
      ENSP00000490963.1, ENST00000639916.1
      Conserved Domains (2) summary
      smart00351
      Location:4128
      PAX; Paired Box domain
      pfam00046
      Location:214267
      Homeobox; Homeobox domain
    7. NM_001310158.2NP_001297087.1  paired box protein Pax-6 isoform b

      See identical proteins and their annotated locations for NP_001297087.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR and includes an alternate in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (b, also known as 5a) is longer than isoform a. Variants 2, 4, 5, 8, and 17-19 all encode the same isoform (b).
      Source sequence(s)
      AB593094, Z83307
      Consensus CDS
      CCDS31452.1
      UniProtKB/TrEMBL
      B3KQG1, F1T0F8
      Related
      ENSP00000491872.1, ENST00000640975.1
      Conserved Domains (2) summary
      smart00351
      Location:4142
      PAX; Paired Box domain
      pfam00046
      Location:228281
      Homeobox; Homeobox domain
    8. NM_001310159.1NP_001297088.1  paired box protein Pax-6 isoform c

      See identical proteins and their annotated locations for NP_001297088.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) has a shorter 5' UTR and lacks multiple 3' coding exons compared to variant 1. Its transcription extends past a splice site used in variant 1, resulting in a distinct 3' coding region and 3' UTR. The encoded isoform (c, also known as S) has a distinct, shorter C-terminus than isoform a.
      Source sequence(s)
      BM666662, GQ141695, M77844
      Consensus CDS
      CCDS86190.1
      UniProtKB/TrEMBL
      A0A1W2PPN2, D1KF47
      Related
      ENSP00000491679.1, ENST00000639034.2
      Conserved Domains (2) summary
      smart00351
      Location:4128
      PAX; Paired Box domain
      pfam00046
      Location:214266
      Homeobox; Homeobox domain
    9. NM_001310160.2NP_001297089.1  paired box protein Pax-6 isoform d

      See identical proteins and their annotated locations for NP_001297089.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) initiates from the P alpha promoter and contains multiple differences in the 5' region, compared to variant 1. The encoded isoform (d) has a shorter N-terminus and lacks the paired domain, compared to isoform a. Variants 10, 11, and 20-30 all encode the same isoform (d).
      Source sequence(s)
      AK094249, CA397106, DA056636, DA089215, Z83307
      Consensus CDS
      CCDS86189.1
      UniProtKB/TrEMBL
      A0A1W2PPH0, A0A1W2PRA8
      Related
      ENSP00000490971.1, ENST00000638629.1
      Conserved Domains (1) summary
      pfam00046
      Location:78131
      Homeobox; Homeobox domain
    10. NM_001310161.3NP_001297090.1  paired box protein Pax-6 isoform d

      See identical proteins and their annotated locations for NP_001297090.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) initiates from the P alpha promoter and contains multiple differences in the 5' region, compared to variant 1. The encoded isoform (d) has a shorter N-terminus and lacks the paired domain, compared to isoform a. Variants 10, 11, and 20-30 all encode the same isoform (d).
      Source sequence(s)
      CA397106, DA089215, DA571138, M93650, Z83307
      Consensus CDS
      CCDS86189.1
      UniProtKB/TrEMBL
      A0A1W2PPH0, A0A1W2PRA8
      Related
      ENSP00000492205.1, ENST00000481563.6
      Conserved Domains (1) summary
      pfam00046
      Location:78131
      Homeobox; Homeobox domain
    11. NM_001368887.2NP_001355816.1  paired box protein Pax-6 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12), as well as variants 1, 3, 6, 7, and 13-16, encodes isoform a.
      Source sequence(s)
      Z83307, Z95332
      Consensus CDS
      CCDS31451.1
      UniProtKB/Swiss-Prot
      P26367, Q6N006, Q99413
      UniProtKB/TrEMBL
      B3KQG1, Q66SS1
      Related
      ENSP00000368406.3, ENST00000379111.7
      Conserved Domains (2) summary
      smart00351
      Location:4128
      PAX; Paired Box domain
      pfam00046
      Location:214267
      Homeobox; Homeobox domain
    12. NM_001368888.2NP_001355817.1  paired box protein Pax-6 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13), as well as variants 1, 3, 6, 7, 12, and 14-16, encodes isoform a.
      Source sequence(s)
      Z83307, Z95332
      Consensus CDS
      CCDS31451.1
      UniProtKB/Swiss-Prot
      P26367, Q6N006, Q99413
      UniProtKB/TrEMBL
      B3KQG1, Q66SS1
      Related
      ENSP00000431585.2, ENST00000524853.6
      Conserved Domains (2) summary
      smart00351
      Location:4128
      PAX; Paired Box domain
      pfam00046
      Location:214267
      Homeobox; Homeobox domain
    13. NM_001368889.2NP_001355818.1  paired box protein Pax-6 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (14), as well as variants 1, 3, 6, 7, 12, 13, 15, and 16, encodes isoform a.
      Source sequence(s)
      Z83307, Z95332
      Consensus CDS
      CCDS31451.1
      UniProtKB/Swiss-Prot
      P26367, Q6N006, Q99413
      UniProtKB/TrEMBL
      B3KQG1, Q66SS1
      Related
      ENSP00000368403.2, ENST00000379109.7
      Conserved Domains (2) summary
      smart00351
      Location:4128
      PAX; Paired Box domain
      pfam00046
      Location:214267
      Homeobox; Homeobox domain
    14. NM_001368890.2NP_001355819.1  paired box protein Pax-6 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (15), as well as variants 1, 3, 6, 7, 12-14, and 16, encodes isoform a.
      Source sequence(s)
      Z83307, Z95332
      Consensus CDS
      CCDS31451.1
      UniProtKB/Swiss-Prot
      P26367, Q6N006, Q99413
      UniProtKB/TrEMBL
      B3KQG1, Q66SS1
      Related
      ENSP00000491862.1, ENST00000639950.1
      Conserved Domains (2) summary
      smart00351
      Location:4128
      PAX; Paired Box domain
      pfam00046
      Location:214267
      Homeobox; Homeobox domain
    15. NM_001368891.2NP_001355820.1  paired box protein Pax-6 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (16), as well as variants 1, 3, 6, 7, and 12-15, encodes isoform a.
      Source sequence(s)
      Z83307, Z95332
      Consensus CDS
      CCDS31451.1
      UniProtKB/Swiss-Prot
      P26367, Q6N006, Q99413
      UniProtKB/TrEMBL
      B3KQG1, Q66SS1
      Related
      ENSP00000492802.1, ENST00000640460.1
      Conserved Domains (2) summary
      smart00351
      Location:4128
      PAX; Paired Box domain
      pfam00046
      Location:214267
      Homeobox; Homeobox domain
    16. NM_001368892.2NP_001355821.1  paired box protein Pax-6 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (17), as well as variants 2, 4, 5, 8, 18, and 19, encodes isoform b.
      Source sequence(s)
      Z83307, Z95332
      Consensus CDS
      CCDS31452.1
      UniProtKB/TrEMBL
      B3KQG1, F1T0F8
      Related
      ENSP00000480026.1, ENST00000606377.7
      Conserved Domains (2) summary
      smart00351
      Location:4142
      PAX; Paired Box domain
      pfam00046
      Location:228281
      Homeobox; Homeobox domain
    17. NM_001368893.2NP_001355822.1  paired box protein Pax-6 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (18), as well as variants 2, 4, 5, 8, 17, and 19, encodes isoform b.
      Source sequence(s)
      Z83307, Z95332
      Consensus CDS
      CCDS31452.1
      UniProtKB/TrEMBL
      B3KQG1, F1T0F8
      Conserved Domains (2) summary
      smart00351
      Location:4142
      PAX; Paired Box domain
      pfam00046
      Location:228281
      Homeobox; Homeobox domain
    18. NM_001368894.2NP_001355823.1  paired box protein Pax-6 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (19), as well as variants 2, 4, 5, 8, 17, and 18, encodes isoform b.
      Source sequence(s)
      Z83307, Z95332
      Consensus CDS
      CCDS31452.1
      UniProtKB/TrEMBL
      B3KQG1, F1T0F8
      Related
      ENSP00000492024.1, ENST00000640368.2
      Conserved Domains (2) summary
      smart00351
      Location:4142
      PAX; Paired Box domain
      pfam00046
      Location:228281
      Homeobox; Homeobox domain
    19. NM_001368899.2NP_001355828.1  paired box protein Pax-6 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (20), as well as variants 10, 11, and 21-30, encodes isoform d.
      Source sequence(s)
      Z83307
      Consensus CDS
      CCDS86189.1
      UniProtKB/TrEMBL
      A0A1W2PPH0, A0A1W2PRA8
      Related
      ENSP00000492081.1, ENST00000638878.1
      Conserved Domains (1) summary
      pfam00046
      Location:78131
      Homeobox; Homeobox domain
    20. NM_001368900.2NP_001355829.1  paired box protein Pax-6 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (21), as well as variants 10, 11, 20, and 22-30, encodes isoform d.
      Source sequence(s)
      Z83307
      Consensus CDS
      CCDS86189.1
      UniProtKB/TrEMBL
      A0A1W2PPH0, A0A1W2PRA8
      Related
      ENSP00000492437.1, ENST00000638802.1
      Conserved Domains (1) summary
      pfam00046
      Location:78131
      Homeobox; Homeobox domain
    21. NM_001368901.2NP_001355830.1  paired box protein Pax-6 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (22), as well as variants 10, 11, 20, 21, and 23-30, encodes isoform d.
      Source sequence(s)
      Z83307
      Consensus CDS
      CCDS86189.1
      UniProtKB/TrEMBL
      A0A1W2PPH0, A0A1W2PRA8
      Related
      ENSP00000492658.1, ENST00000639386.2
      Conserved Domains (1) summary
      pfam00046
      Location:78131
      Homeobox; Homeobox domain
    22. NM_001368902.2NP_001355831.1  paired box protein Pax-6 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (23), as well as variants 10, 11, 20-22, and 24-30, encodes isoform d.
      Source sequence(s)
      Z83307
      Consensus CDS
      CCDS86189.1
      UniProtKB/TrEMBL
      A0A1W2PPH0, A0A1W2PRA8
      Related
      ENSP00000491904.1, ENST00000639109.1
      Conserved Domains (1) summary
      pfam00046
      Location:78131
      Homeobox; Homeobox domain
    23. NM_001368903.2NP_001355832.1  paired box protein Pax-6 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (24), as well as variants 10, 11, 20-23, and 25-30, encodes isoform d.
      Source sequence(s)
      Z83307
      Consensus CDS
      CCDS86189.1
      UniProtKB/TrEMBL
      A0A1W2PPH0, A0A1W2PRA8
      Related
      ENSP00000491517.1, ENST00000638762.1
      Conserved Domains (1) summary
      pfam00046
      Location:78131
      Homeobox; Homeobox domain
    24. NM_001368904.2NP_001355833.1  paired box protein Pax-6 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (25), as well as variants 10, 11, 20-24, and 26-30, encodes isoform d.
      Source sequence(s)
      Z83307, Z95332
      Consensus CDS
      CCDS86189.1
      UniProtKB/TrEMBL
      A0A1W2PPH0, A0A1W2PRA8
      Related
      ENSP00000491365.1, ENST00000638250.1
      Conserved Domains (1) summary
      pfam00046
      Location:78131
      Homeobox; Homeobox domain
    25. NM_001368905.2NP_001355834.1  paired box protein Pax-6 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (26), as well as variants 10, 11, 20-25, and 27-30, encodes isoform d.
      Source sequence(s)
      Z83307, Z95332
      Consensus CDS
      CCDS86189.1
      UniProtKB/TrEMBL
      A0A1W2PPH0, A0A1W2PRA8
      Conserved Domains (1) summary
      pfam00046
      Location:78131
      Homeobox; Homeobox domain
    26. NM_001368906.2NP_001355835.1  paired box protein Pax-6 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (27), as well as variants 10, 11, 20-26, and 28-30, encodes isoform d.
      Source sequence(s)
      Z83307, Z95332
      Consensus CDS
      CCDS86189.1
      UniProtKB/TrEMBL
      A0A1W2PPH0, A0A1W2PRA8
      Related
      ENSP00000491214.1, ENST00000640766.1
      Conserved Domains (1) summary
      pfam00046
      Location:78131
      Homeobox; Homeobox domain
    27. NM_001368907.2NP_001355836.1  paired box protein Pax-6 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (28), as well as variants 10, 11, 20-27, 29, and 30, encodes isoform d.
      Source sequence(s)
      Z83307
      Consensus CDS
      CCDS86189.1
      UniProtKB/TrEMBL
      A0A1W2PPH0, A0A1W2PRA8
      Related
      ENSP00000491065.1, ENST00000640872.1
      Conserved Domains (1) summary
      pfam00046
      Location:78131
      Homeobox; Homeobox domain
    28. NM_001368908.2NP_001355837.1  paired box protein Pax-6 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (29), as well as variants 10, 11, 20-28, and 30, encodes isoform d.
      Source sequence(s)
      Z83307, Z95332
      Consensus CDS
      CCDS86189.1
      UniProtKB/TrEMBL
      A0A1W2PPH0, A0A1W2PRA8
      Conserved Domains (1) summary
      pfam00046
      Location:78131
      Homeobox; Homeobox domain
    29. NM_001368909.2NP_001355838.1  paired box protein Pax-6 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (30), as well as variants 10, 11, and 20-29, encodes isoform d.
      Source sequence(s)
      Z83307, Z95332
      Consensus CDS
      CCDS86189.1
      UniProtKB/TrEMBL
      A0A1W2PPH0, A0A1W2PRA8
      Conserved Domains (1) summary
      pfam00046
      Location:78131
      Homeobox; Homeobox domain
    30. NM_001368910.2NP_001355839.1  paired box protein Pax-6 isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (31) encodes the longest isoform (e).
      Source sequence(s)
      Z83307, Z95332
      UniProtKB/TrEMBL
      B3KQG1
      Conserved Domains (2) summary
      smart00351
      Location:85209
      PAX; Paired Box domain
      pfam00046
      Location:295348
      Homeobox; Homeobox domain
    31. NM_001368911.2NP_001355840.1  paired box protein Pax-6 isoform f

      Status: REVIEWED

      Source sequence(s)
      Z83307, Z95332
      Conserved Domains (2) summary
      smart00351
      Location:5143
      PAX; Paired Box domain
      pfam00046
      Location:229282
      Homeobox; Homeobox domain
    32. NM_001368912.2NP_001355841.1  paired box protein Pax-6 isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (33), as well as variants 34 and 35, encodes isoform g.
      Source sequence(s)
      Z83307, Z95332
      Conserved Domains (2) summary
      smart00351
      Location:4142
      PAX; Paired Box domain
      pfam00046
      Location:228281
      Homeobox; Homeobox domain
    33. NM_001368913.2NP_001355842.1  paired box protein Pax-6 isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (34), as well as variants 33 and 35, encodes isoform g.
      Source sequence(s)
      Z83307, Z95332
      Conserved Domains (2) summary
      smart00351
      Location:4142
      PAX; Paired Box domain
      pfam00046
      Location:228281
      Homeobox; Homeobox domain
    34. NM_001368914.2NP_001355843.1  paired box protein Pax-6 isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (35), as well as variants 33 and 34, encodes isoform g.
      Source sequence(s)
      Z83307, Z95332
      Conserved Domains (2) summary
      smart00351
      Location:4142
      PAX; Paired Box domain
      pfam00046
      Location:228281
      Homeobox; Homeobox domain
    35. NM_001368915.2NP_001355844.1  paired box protein Pax-6 isoform h

      Status: REVIEWED

      Description
      Transcript Variant: This variant (36), as well as variants 37 and 38, encodes isoform h.
      Source sequence(s)
      Z83307, Z95332
      Consensus CDS
      CCDS91456.1
      UniProtKB/TrEMBL
      A0A1W2PQG7
      Conserved Domains (2) summary
      smart00351
      Location:4128
      PAX; Paired Box domain
      pfam00046
      Location:214266
      Homeobox; Homeobox domain
    36. NM_001368916.2NP_001355845.1  paired box protein Pax-6 isoform h

      Status: REVIEWED

      Description
      Transcript Variant: This variant (37), as well as variants 36 and 38, encodes isoform h.
      Source sequence(s)
      Z83307, Z95332
      Consensus CDS
      CCDS91456.1
      UniProtKB/TrEMBL
      A0A1W2PQG7
      Related
      ENSP00000491948.1, ENST00000638963.1
      Conserved Domains (2) summary
      smart00351
      Location:4128
      PAX; Paired Box domain
      pfam00046
      Location:214266
      Homeobox; Homeobox domain
    37. NM_001368917.2NP_001355846.1  paired box protein Pax-6 isoform h

      Status: REVIEWED

      Description
      Transcript Variant: This variant (38), as well as variants 36 and 37, encodes isoform h.
      Source sequence(s)
      Z83307, Z95332
      Consensus CDS
      CCDS91456.1
      UniProtKB/TrEMBL
      A0A1W2PQG7
      Conserved Domains (2) summary
      smart00351
      Location:4128
      PAX; Paired Box domain
      pfam00046
      Location:214266
      Homeobox; Homeobox domain
    38. NM_001368918.2NP_001355847.1  paired box protein Pax-6 isoform i

      Status: REVIEWED

      Description
      Transcript Variant: This variant (39), as well as variant 40, encodes isoform i.
      Source sequence(s)
      Z83307, Z95332
      UniProtKB/TrEMBL
      B3KQG1
      Conserved Domains (2) summary
      smart00351
      Location:4167
      PAX; Paired Box domain
      pfam00046
      Location:253305
      Homeobox; Homeobox domain
    39. NM_001368919.2NP_001355848.1  paired box protein Pax-6 isoform i

      Status: REVIEWED

      Description
      Transcript Variant: This variant (40), as well as variant 39, encodes isoform i.
      Source sequence(s)
      Z83307, Z95332
      UniProtKB/TrEMBL
      B3KQG1
      Conserved Domains (2) summary
      smart00351
      Location:4167
      PAX; Paired Box domain
      pfam00046
      Location:253305
      Homeobox; Homeobox domain
    40. NM_001368920.2NP_001355849.1  paired box protein Pax-6 isoform j

      Status: REVIEWED

      Source sequence(s)
      Z83307, Z95332
      UniProtKB/TrEMBL
      B3KQG1
      Conserved Domains (2) summary
      smart00351
      Location:4153
      PAX; Paired Box domain
      pfam00046
      Location:239291
      Homeobox; Homeobox domain
    41. NM_001368921.2NP_001355850.1  paired box protein Pax-6 isoform k

      Status: REVIEWED

      Source sequence(s)
      Z83307, Z95332
      Conserved Domains (2) summary
      pfam00046
      Location:161214
      Homeobox; Homeobox domain
      cl21459
      Location:470
      HTH; Helix-turn-helix domains
    42. NM_001368922.2NP_001355851.1  paired box protein Pax-6 isoform l

      Status: REVIEWED

      Description
      Transcript Variant: This variant (43), as well as variants 44-48, encodes isoform l.
      Source sequence(s)
      Z83307, Z95332
      UniProtKB/TrEMBL
      A0A1W2PRG3
      Related
      ENSP00000404356.2, ENST00000438681.6
      Conserved Domains (2) summary
      pfam00046
      Location:161214
      Homeobox; Homeobox domain
      cl21459
      Location:470
      HTH; Helix-turn-helix domains
    43. NM_001368923.2NP_001355852.1  paired box protein Pax-6 isoform l

      Status: REVIEWED

      Description
      Transcript Variant: This variant (44), as well as variants 43 and 45-48, encodes isoform l.
      Source sequence(s)
      Z83307, Z95332
      UniProtKB/TrEMBL
      A0A1W2PRG3
      Related
      ENSP00000388132.3, ENST00000423822.7
      Conserved Domains (2) summary
      pfam00046
      Location:161214
      Homeobox; Homeobox domain
      cl21459
      Location:470
      HTH; Helix-turn-helix domains
    44. NM_001368924.2NP_001355853.1  paired box protein Pax-6 isoform l

      Status: REVIEWED

      Description
      Transcript Variant: This variant (45), as well as variants 43, 44, and 46-48, encodes isoform l.
      Source sequence(s)
      Z83307, Z95332
      UniProtKB/TrEMBL
      A0A1W2PRG3
      Related
      ENSP00000491229.1, ENST00000639943.1
      Conserved Domains (2) summary
      pfam00046
      Location:161214
      Homeobox; Homeobox domain
      cl21459
      Location:470
      HTH; Helix-turn-helix domains
    45. NM_001368925.2NP_001355854.1  paired box protein Pax-6 isoform l

      Status: REVIEWED

      Description
      Transcript Variant: This variant (46), as well as variants 43-45, 47, and 48, encodes isoform l.
      Source sequence(s)
      Z83307, Z95332
      UniProtKB/TrEMBL
      A0A1W2PRG3
      Related
      ENSP00000492587.1, ENST00000640613.1
      Conserved Domains (2) summary
      pfam00046
      Location:161214
      Homeobox; Homeobox domain
      cl21459
      Location:470
      HTH; Helix-turn-helix domains
    46. NM_001368926.2NP_001355855.1  paired box protein Pax-6 isoform l

      Status: REVIEWED

      Description
      Transcript Variant: This variant (47), as well as variants 43-46 and 48, encodes isoform l.
      Source sequence(s)
      Z83307, Z95332
      UniProtKB/TrEMBL
      A0A1W2PRG3
      Conserved Domains (2) summary
      pfam00046
      Location:161214
      Homeobox; Homeobox domain
      cl21459
      Location:470
      HTH; Helix-turn-helix domains
    47. NM_001368927.2NP_001355856.1  paired box protein Pax-6 isoform l

      Status: REVIEWED

      Description
      Transcript Variant: This variant (48), as well as variants 43-47, encodes isoform l.
      Source sequence(s)
      Z83307, Z95332
      UniProtKB/TrEMBL
      A0A1W2PRG3
      Related
      ENSP00000368410.5, ENST00000379115.9
      Conserved Domains (2) summary
      pfam00046
      Location:161214
      Homeobox; Homeobox domain
      cl21459
      Location:470
      HTH; Helix-turn-helix domains
    48. NM_001368928.2NP_001355857.1  paired box protein Pax-6 isoform m

      Status: REVIEWED

      Source sequence(s)
      Z83307, Z95332
      UniProtKB/TrEMBL
      A0A1W2PRG3
      Conserved Domains (2) summary
      pfam00046
      Location:147200
      Homeobox; Homeobox domain
      cl21459
      Location:456
      HTH; Helix-turn-helix domains
    49. NM_001368929.2NP_001355858.1  paired box protein Pax-6 isoform n

      Status: REVIEWED

      Source sequence(s)
      Z83307
      UniProtKB/TrEMBL
      A0A1W2PRH6
      Related
      ENSP00000492316.1, ENST00000638685.1
      Conserved Domains (1) summary
      pfam00046
      Location:78131
      Homeobox; Homeobox domain
    50. NM_001368930.2NP_001355859.1  paired box protein Pax-6 isoform o

      Status: REVIEWED

      Source sequence(s)
      Z83307
      Consensus CDS
      CCDS91455.1
      UniProtKB/TrEMBL
      A0A1W2PSB5
      Related
      ENSP00000492769.1, ENST00000638965.1
      Conserved Domains (1) summary
      pfam00046
      Location:1366
      Homeobox; Homeobox domain
    51. NM_001604.6NP_001595.2  paired box protein Pax-6 isoform b

      See identical proteins and their annotated locations for NP_001595.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR, and includes an alternate in-frame exon in the 5' coding region, compared to variant 1. It initiates from the B (P1) promoter. The encoded isoform (b, also known as 5a) is longer than isoform a. Variants 2, 4, 5, 8, and 17-19 all encode the same isoform (b).
      Source sequence(s)
      BX640762, CV569250, DA078958, DA141443, Z83307
      Consensus CDS
      CCDS31452.1
      UniProtKB/TrEMBL
      B3KQG1, F1T0F8
      Related
      ENSP00000404100.1, ENST00000419022.6
      Conserved Domains (2) summary
      smart00351
      Location:4142
      PAX; Paired Box domain
      pfam00046
      Location:228281
      Homeobox; Homeobox domain

    RNA

    1. NR_160916.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      Z83307, Z95332
    2. NR_160917.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      Z83307, Z95332

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      31789026..31817961 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      31924847..31953767 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)