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IKZF3 IKAROS family zinc finger 3 [ Homo sapiens (human) ]

Gene ID: 22806, updated on 5-Mar-2024

Summary

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Official Symbol
IKZF3provided by HGNC
Official Full Name
IKAROS family zinc finger 3provided by HGNC
Primary source
HGNC:HGNC:13178
See related
Ensembl:ENSG00000161405 MIM:606221; AllianceGenome:HGNC:13178
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
AIO; IMD84; AIOLOS; ZNFN1A3
Summary
This gene encodes a member of the Ikaros family of zinc-finger proteins. Three members of this protein family (Ikaros, Aiolos and Helios) are hematopoietic-specific transcription factors involved in the regulation of lymphocyte development. This gene product is a transcription factor that is important in the regulation of B lymphocyte proliferation and differentiation. Both Ikaros and Aiolos can participate in chromatin remodeling. Regulation of gene expression in B lymphocytes by Aiolos is complex as it appears to require the sequential formation of Ikaros homodimers, Ikaros/Aiolos heterodimers, and Aiolos homodimers. Several alternative transcripts encoding different isoforms have been described, as well as some non-protein coding variants. [provided by RefSeq, Apr 2012]
Expression
Biased expression in lymph node (RPKM 17.4), spleen (RPKM 11.5) and 10 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
17q12-q21.1
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (39757715..39864312, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (40621278..40728035, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (37913968..38020565, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene erb-b2 receptor tyrosine kinase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8463 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:37896451-37897048 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:37897647-37898244 Neighboring gene migration and invasion enhancer 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8464 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8465 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8466 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12104 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12105 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12106 Neighboring gene growth factor receptor bound protein 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12107 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8467 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12108 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:37934634-37934867 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:37940879-37941109 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12109 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12110 Neighboring gene MPRA-validated peak2840 silencer Neighboring gene MPRA-validated peak2841 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37991649-37992148 Neighboring gene keratin 8 pseudogene 34 Neighboring gene ribosomal protein L39 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12111 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12112 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12113 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12114 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12115 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12116 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:38023509-38023724 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12117 Neighboring gene zona pellucida binding protein 2 Neighboring gene GSDMB 5' regulatory region Neighboring gene gasdermin B

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. IKZF3 is a novel prognostic biomarker for head and neck squamous cell carcinoma: A study based on bioinformatics analysis. Li H, et al. Medicine (Baltimore), 2023 Mar 17. PMID 36930079, Free PMC Article
  2. IKZF3 amplification frequently occurs in HER2-positive breast cancer and is a potential therapeutic target. Lin CY, et al. Med Oncol, 2022 Sep 30. PMID 36180600
  3. [Relationship between IKZF3 Gene Single Nucleotide Polymorphisms and Childhood Acute Lymphoblastic Leukemia]. Hong Y, et al. Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2021 Jun. PMID 34105458
  4. Overexpression of Aiolos promotes epithelial-mesenchymal transition and cancer stem cell-like properties in lung cancer cells. Hung JJ, et al. Sci Rep, 2019 Feb 28. PMID 30816208, Free PMC Article
  5. Polymorphisms of IKZF3 Gene and Autoimmune Thyroid Diseases: Associated with Graves' Disease but Not with Hashimoto's Thyroiditis. Li L, et al. Cell Physiol Biochem, 2018. PMID 29510406

See all (109) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. IKZF3 polymorphisms contribute to the increased risk of acute lymphoblastic leukemia in children.
    Title: IKZF3 polymorphisms contribute to the increased risk of acute lymphoblastic leukemia in children.
  2. Disease-associated AIOLOS variants lead to immune deficiency/dysregulation by haploinsufficiency and redefine AIOLOS functional domains.
    Title: Disease-associated AIOLOS variants lead to immune deficiency/dysregulation by haploinsufficiency and redefine AIOLOS functional domains.
  3. Genetic variations in IKZF3, LET7-a2, and CDKN2B-AS1: Exploring associations with metabolic syndrome susceptibility and clinical manifestations.
    Title: Genetic variations in IKZF3, LET7-a2, and CDKN2B-AS1: Exploring associations with metabolic syndrome susceptibility and clinical manifestations.
  4. IKZF3 is a novel prognostic biomarker for head and neck squamous cell carcinoma: A study based on bioinformatics analysis.
    Title: IKZF3 is a novel prognostic biomarker for head and neck squamous cell carcinoma: A study based on bioinformatics analysis.
  5. IKZF3 amplification frequently occurs in HER2-positive breast cancer and is a potential therapeutic target.
    Title: IKZF3 amplification frequently occurs in HER2-positive breast cancer and is a potential therapeutic target.
  6. AIOLOS Variants Causing Immunodeficiency in Human and Mice.
    Title: AIOLOS Variants Causing Immunodeficiency in Human and Mice.
  7. Tissue signals imprint Aiolos expression in ILC2s to modulate type 2 immunity.
    Title: Tissue signals imprint Aiolos expression in ILC2s to modulate type 2 immunity.
  8. Aiolos regulates eosinophil migration into tissues.
    Title: Aiolos regulates eosinophil migration into tissues.
  9. IKZF3 deficiency potentiates chimeric antigen receptor T cells targeting solid tumors.
    Title: IKZF3 deficiency potentiates chimeric antigen receptor T cells targeting solid tumors.
  10. T and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patients.
    Title: T and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patients.
Submit: New GeneRIF Correction See all GeneRIFs (50)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Immunodeficiency 84
MedGen: C5561940 OMIM: 619437 GeneReviews: Not available
not available

EBI GWAS Catalog

Description
A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.
EBI GWAS Catalog
A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.
EBI GWAS Catalog
Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.
EBI GWAS Catalog
Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
EBI GWAS Catalog
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.
EBI GWAS Catalog
Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.
EBI GWAS Catalog
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
EBI GWAS Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
EBI GWAS Catalog
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
EBI GWAS Catalog
Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Vif vif HIV-1 Vif interacts with IKZF3; predicted interaction to be relevant to gene regulation PubMed
vif HIV-1 Vif downregulates the expression of IKAROS family zinc finger 3 (IKZF3) in Vif-expression T cells PubMed
integrase gag-pol Analysis of HIV-1 proviral integration sites in antiretroviral treatment patients indicates that IKZF3 gene favors HIV-1 integration for expansion and persistence of infected cells, suggesting HIV-1 IN interacts with IKZF3 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables DNA-binding transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables histone deacetylase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables promoter-specific chromatin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein heterodimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables sequence-specific DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in B cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in T cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in mesoderm development TAS
Traceable Author Statement
more info
 PubMed 
involved_in positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of B cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of B cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of lymphocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in response to bacterium IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
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

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Preferred Names
zinc finger protein Aiolos
Names
zinc finger DNA binding protein Aiolos
zinc finger protein, subfamily 1A, 3 (Aiolos)

NCBI Reference Sequences (RefSeq)

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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_029104.2 RefSeqGene

    Range
    4877..111471
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001257408.2 → NP_001244337.1  zinc finger protein Aiolos isoform 7

    See identical proteins and their annotated locations for NP_001244337.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (7, also known as Aio-del2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC079199, AC090844, AI866838, AY377973
    Consensus CDS
    CCDS58540.1
    UniProtKB/Swiss-Prot
    Q9UKT9
    Related
    ENSP00000438972.1, ENST00000535189.5
    Conserved Domains (3) summary
    COG5048
    Location:45 → 185
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:86 → 106
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:99 → 123
    zf-H2C2_2; Zinc-finger double domain

  2. NM_001257409.2 → NP_001244338.1  zinc finger protein Aiolos isoform 8

    See identical proteins and their annotated locations for NP_001244338.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (8, also known as Aio-del2,5) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC079199, AC090844, AI866838, AY377975
    Consensus CDS
    CCDS58539.1
    UniProtKB/Swiss-Prot
    Q9UKT9
    Related
    ENSP00000403776.2, ENST00000439167.6
    Conserved Domains (2) summary
    sd00017
    Location:86 → 106
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:99 → 123
    zf-H2C2_2; Zinc-finger double domain

  3. NM_001257410.2 → NP_001244339.1  zinc finger protein Aiolos isoform 9

    See identical proteins and their annotated locations for NP_001244339.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (9, also known as Aio-del3) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC079199, AC090844, AI866838, AY377976
    Consensus CDS
    CCDS58544.1
    UniProtKB/Swiss-Prot
    Q9UKT9
    Related
    ENSP00000367194.2, ENST00000377958.6
    Conserved Domains (4) summary
    COG5048
    Location:58 → 132
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:61 → 81
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:59 → 81
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:73 → 96
    zf-H2C2_2; Zinc-finger double domain

  4. NM_001257411.2 → NP_001244340.1  zinc finger protein Aiolos isoform 10

    See identical proteins and their annotated locations for NP_001244340.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (10, also known as Aio-del3,4) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC079199, AC090844, AI866838, AY377977
    Consensus CDS
    CCDS58543.1
    UniProtKB/Swiss-Prot
    Q9UKT9
    Related
    ENSP00000367179.3, ENST00000377944.7
    Conserved Domains (2) summary
    COG5189
    Location:33 → 78
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:61 → 78
    ZF_C2H2; C2H2 Zn finger [structural motif]

  5. NM_001257412.2 → NP_001244341.1  zinc finger protein Aiolos isoform 11

    See identical proteins and their annotated locations for NP_001244341.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11) lacks three alternate in-frame exons compared to variant 1. The resulting isoform (11, also known as Aio-del3,4,5) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC079199, AC090844, AI866838, AY377978
    Consensus CDS
    CCDS58542.1
    UniProtKB/Swiss-Prot
    Q9UKT9
    Related
    ENSP00000377741.2, ENST00000394189.6

  6. NM_001257413.2 → NP_001244342.1  zinc finger protein Aiolos isoform 12

    See identical proteins and their annotated locations for NP_001244342.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12) lacks four alternate in-frame exons compared to variant 1. The resulting isoform (12, also known as Aio-del3,4,5,6) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC079199, AC090844, AI866838, AY377979
    Consensus CDS
    CCDS58541.1
    UniProtKB/Swiss-Prot
    Q9UKT9
    Related
    ENSP00000367188.2, ENST00000377952.6

  7. NM_001257414.2 → NP_001244343.1  zinc finger protein Aiolos isoform 13

    See identical proteins and their annotated locations for NP_001244343.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (13) lacks three alternate in-frame exons compared to variant 1. The resulting isoform (13, also known as Aio-del4,5,6) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC079199, AC090844, AI866838, AY377980
    Consensus CDS
    CCDS58545.1
    UniProtKB/Swiss-Prot
    Q9UKT9
    Related
    ENSP00000367180.3, ENST00000377945.7

  8. NM_001284514.2 → NP_001271443.1  zinc finger protein Aiolos isoform 14

    See identical proteins and their annotated locations for NP_001271443.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (14) uses an alternate 5' exon structure and thus differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (14) with a shorter N-terminus, compared to isoform 1. Variants 14, 15, and 16 encode the same isoform (14).
    Source sequence(s)
    AC079199, AC090844, AI866838, AY377981
    Consensus CDS
    CCDS74055.1
    UniProtKB/Swiss-Prot
    Q9UKT9
    Related
    ENSP00000485515.1, ENST00000623724.3

  9. NM_001284515.2 → NP_001271444.1  zinc finger protein Aiolos isoform 14

    See identical proteins and their annotated locations for NP_001271444.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (15) uses an alternate 5' exon structure and thus differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (14) with a shorter N-terminus, compared to isoform 1. Variants 14, 15, and 16 encode the same isoform (14).
    Source sequence(s)
    AC079199, AC090844, AI866838, AY377982
    Consensus CDS
    CCDS74055.1
    UniProtKB/Swiss-Prot
    Q9UKT9

  10. NM_001284516.1 → NP_001271445.1  zinc finger protein Aiolos isoform 14

    See identical proteins and their annotated locations for NP_001271445.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (16) represents use of an alternate promoter and thus differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (14) with a shorter N-terminus, compared to isoform 1. Variants 14, 15, and 16 encode the same isoform (14).
    Source sequence(s)
    AC079199, AI866838, AK301250
    Consensus CDS
    CCDS74055.1
    UniProtKB/Swiss-Prot
    Q9UKT9
    Related
    ENSP00000462452.1, ENST00000583368.1

  11. NM_012481.5 → NP_036613.2  zinc finger protein Aiolos isoform 1

    See identical proteins and their annotated locations for NP_036613.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1, also known as Aio-1).
    Source sequence(s)
    AC079199, AC090844, AF129512, AI866838
    Consensus CDS
    CCDS11346.1
    UniProtKB/Swiss-Prot
    B4DVV5, Q69BL6, Q69BL7, Q69BL8, Q69BL9, Q69BM0, Q69BM1, Q69BM2, Q69BM3, Q69BM5, Q8N574, Q8WWQ9, Q8WWR0, Q8WWR1, Q8WWR2, Q8WWR3, Q9UKT9
    Related
    ENSP00000344544.3, ENST00000346872.8
    Conserved Domains (3) summary
    COG5048
    Location:79 → 219
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:120 → 140
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:133 → 157
    zf-H2C2_2; Zinc-finger double domain

  12. NM_183228.3 → NP_899051.1  zinc finger protein Aiolos isoform 2

    See identical proteins and their annotated locations for NP_899051.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2, also known as Aio-del4) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC079199, AC090844, AF129512, AI866838, AJ292565
    Consensus CDS
    CCDS11347.1
    UniProtKB/Swiss-Prot
    Q9UKT9
    Related
    ENSP00000420463.1, ENST00000467757.5
    Conserved Domains (2) summary
    sd00017
    Location:120 → 140
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:133 → 157
    zf-H2C2_2; Zinc-finger double domain

  13. NM_183229.3 → NP_899052.1  zinc finger protein Aiolos isoform 3

    See identical proteins and their annotated locations for NP_899052.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3, also known as Aio-del5) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC079199, AC090844, AF129512, AI866838, AJ292566
    Consensus CDS
    CCDS11348.1
    UniProtKB/Swiss-Prot
    Q9UKT9
    Related
    ENSP00000345622.3, ENST00000351680.7
    Conserved Domains (2) summary
    sd00017
    Location:120 → 140
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:133 → 157
    zf-H2C2_2; Zinc-finger double domain

  14. NM_183230.3 → NP_899053.1  zinc finger protein Aiolos isoform 4

    See identical proteins and their annotated locations for NP_899053.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (4, also known as Aio-del6) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC079199, AC090844, AF129512, AI866838, AJ292567
    Consensus CDS
    CCDS11349.1
    UniProtKB/Swiss-Prot
    Q9UKT9
    Related
    ENSP00000344471.3, ENST00000350532.7
    Conserved Domains (3) summary
    COG5048
    Location:79 → 219
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:120 → 140
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:133 → 157
    zf-H2C2_2; Zinc-finger double domain

  15. NM_183231.3 → NP_899054.1  zinc finger protein Aiolos isoform 5

    See identical proteins and their annotated locations for NP_899054.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (5, also known as Aio-del4,5) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC079199, AC090844, AF129512, AI866838, AJ292568
    Consensus CDS
    CCDS11350.1
    UniProtKB/Swiss-Prot
    Q9UKT9
    Related
    ENSP00000403027.2, ENST00000439016.2

  16. NM_183232.3 → NP_899055.1  zinc finger protein Aiolos isoform 6

    See identical proteins and their annotated locations for NP_899055.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (6, also known as Aio-del5,6) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC079199, AC090844, AF129512, AI866838, AJ292569
    Consensus CDS
    CCDS11351.1
    UniProtKB/Swiss-Prot
    Q9UKT9
    Related
    ENSP00000341977.3, ENST00000346243.7
    Conserved Domains (3) summary
    COG5048
    Location:79 → 241
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:120 → 140
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:133 → 157
    zf-H2C2_2; Zinc-finger double domain

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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    39757715..39864312 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047435625.1 → XP_047291581.1  zinc finger protein Aiolos isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    40621278..40728035 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054315483.1 → XP_054171458.1  zinc finger protein Aiolos isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UKT9.2 GenPept UniProtKB/Swiss-Prot:Q9UKT9

Gene LinkOut

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