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    ANKRD33 ankyrin repeat domain 33 [ Homo sapiens (human) ]

    Gene ID: 341405, updated on 28-Oct-2024

    Summary

    Official Symbol
    ANKRD33provided by HGNC
    Official Full Name
    ankyrin repeat domain 33provided by HGNC
    Primary source
    HGNC:HGNC:13788
    See related
    Ensembl:ENSG00000167612 MIM:620857; AllianceGenome:HGNC:13788
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PANKY; C12orf7
    Summary
    Predicted to act upstream of or within skeletal muscle cell differentiation. Predicted to be located in cytosol and nucleus. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Biased expression in placenta (RPKM 1.3) and testis (RPKM 0.1) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ANKRD33 in Genome Data Viewer
    Location:
    12q13.13
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (51888103..51891727)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (51851678..51855302)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (52281887..52285511)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4473 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:52208409-52208908 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4474 Neighboring gene transmembrane and death domain 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52220360-52220860 Neighboring gene fidgetin like 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:52221534-52222085 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:52223188-52223737 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:52229864-52230815 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52238698-52239408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52239409-52240117 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:52240828-52241536 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:52241735-52242726 Neighboring gene FIGNL2 divergent transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:52256788-52257308 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:52262827-52263460 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52263461-52264092 Neighboring gene filamin-B-like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:52301449-52301957 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:52307107-52307940 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52308586-52309472 Neighboring gene activin A receptor like type 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:52311731-52312303 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6385

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp686O1689

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in skeletal muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    photoreceptor ankyrin repeat protein
    Names
    ankyrin repeat domain-containing protein 33

    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.

    mRNA and Protein(s)

    1. NM_001130015.2NP_001123487.1  photoreceptor ankyrin repeat protein isoform 1

      See identical proteins and their annotated locations for NP_001123487.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) lacks one internal exon and an internal segment in the coding region, compared to variant 3. The resulting isoform (1) lacks two internal segments, compared to isoform 3.
      Source sequence(s)
      AC025259, AF517120, BC121152, BC121153
      Consensus CDS
      CCDS44892.1
      UniProtKB/Swiss-Prot
      Q7Z3H0
      UniProtKB/TrEMBL
      Q0VAA8, Q5K617
      Related
      ENSP00000344690.4, ENST00000340970.8
      Conserved Domains (2) summary
      cd00204
      Location:1115
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:2962
      ANK; ANK repeat [structural motif]
    2. NM_001304459.2NP_001291388.1  photoreceptor ankyrin repeat protein isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes a 348aa protein (isoform 3).
      Source sequence(s)
      AC025259, AF517120, AK125517, BC121152, BX649168
      UniProtKB/Swiss-Prot
      Q7Z3H0
      UniProtKB/TrEMBL
      Q0VAA8, Q5K617
      Conserved Domains (3) summary
      cd00204
      Location:1136
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam13857
      Location:1472
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:2962
      ANK; ANK repeat [structural motif]
    3. NM_001304460.2NP_001291389.1  photoreceptor ankyrin repeat protein isoform 4

      See identical proteins and their annotated locations for NP_001291389.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks two internal exons and an internal segment, compared to variant 3. The resulting isoform (4) is shorter at the N-terminus and lacks two internal segments, compared to isoform 3.
      Source sequence(s)
      AC025259, AF517120, BC121152
      UniProtKB/TrEMBL
      Q0VAA8
      Conserved Domains (2) summary
      cd00204
      Location:155
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam12796
      Location:146
      Ank_2; Ankyrin repeats (3 copies)
    4. NM_182608.4NP_872414.3  photoreceptor ankyrin repeat protein isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has two alternate splice sites and lacks an internal exon in the coding region, compared to variant 3. The resulting isoform (2) is the longest isoform, which is longer at the N-terminus and lacks an internal segment, compared to isoform 3.
      Source sequence(s)
      AC025259, AF517120, AK125517, BC121152, BC121153, BX649168
      Consensus CDS
      CCDS8815.1
      UniProtKB/Swiss-Prot
      Q0VAA7, Q5K619, Q5K621, Q5K622, Q5K623, Q5K624, Q6ZUN0, Q7Z3H0
      Related
      ENSP00000301190.6, ENST00000301190.11
      Conserved Domains (2) summary
      cd00204
      Location:98212
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:98128
      ANK; ANK repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      51888103..51891727
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047428783.1XP_047284739.1  photoreceptor ankyrin repeat protein isoform X3

    2. XM_047428782.1XP_047284738.1  photoreceptor ankyrin repeat protein isoform X1

    3. XM_017019258.2XP_016874747.1  photoreceptor ankyrin repeat protein isoform X2

    4. XM_047428784.1XP_047284740.1  photoreceptor ankyrin repeat protein isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      51851678..51855302
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371949.1XP_054227924.1  photoreceptor ankyrin repeat protein isoform X3

    2. XM_054371947.1XP_054227922.1  photoreceptor ankyrin repeat protein isoform X1

    3. XM_054371950.1XP_054227925.1  photoreceptor ankyrin repeat protein isoform X4

    4. XM_054371948.1XP_054227923.1  photoreceptor ankyrin repeat protein isoform X2