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

Gene ID: 341405, updated on 7-Jun-2020

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

Genomic context

See ANKRD33 in Genome Data Viewer
Location:
12q13.13
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (51888103..51891727)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (52281745..52285505)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene sodium voltage-gated channel alpha subunit 8 Neighboring gene heterogeneous nuclear ribonucleoprotein A3 pseudogene 10 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

NHGRI GWAS Catalog

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

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
negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of transcription regulatory region DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
skeletal muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IEA
Inferred from Electronic Annotation
more info
 
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)

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.

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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