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

    Gene ID: 341405, updated on 11-Jun-2021

    Summary

    Official Symbol
    ANKRD33provided by HGNC
    Official Full Name
    ankyrin repeat domain 33provided by HGNC
    Primary source
    HGNC:HGNC:13788
    See related
    Ensembl:ENSG00000167612
    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
    Expression
    Biased expression in placenta (RPKM 1.3) and testis (RPKM 0.1) See more
    Orthologs
    NEW
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    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
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (51888103..51891727)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (52281887..52285511)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene transmembrane and death domain 1 Neighboring gene fidgetin like 2 Neighboring gene FIGNL2 divergent transcript Neighboring gene filamin-B-like Neighboring gene activin A receptor like type 1

    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

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia.
    GeneReviews: Not available

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • DKFZp686O1689

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in negative regulation of transcription regulatory region DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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, Q5K617
      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
      Q7Z3H0
      UniProtKB/TrEMBL
      Q0VAA8, Q5K617
      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: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_017019258.1XP_016874747.1  photoreceptor ankyrin repeat protein isoform X1

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