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POTEA POTE ankyrin domain family member A [ Homo sapiens (human) ]

Gene ID: 340441, updated on 5-Mar-2024

Summary

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Official Symbol
POTEAprovided by HGNC
Official Full Name
POTE ankyrin domain family member Aprovided by HGNC
Primary source
HGNC:HGNC:33893
See related
Ensembl:ENSG00000188877 MIM:608915; AllianceGenome:HGNC:33893
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
A26A1; POTE8; POTE-8; CT104.3
Expression
Low expression observed in reference dataset See more
Orthologs
all
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Genomic context

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Location:
8p11.1
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (43292370..43365175)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (43566549..43639364)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (43147585..43218328)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene protein enabled homolog Neighboring gene AFG3L2 pseudogene 1 Neighboring gene RNA, U6 small nuclear 104, pseudogene Neighboring gene small nucleolar RNA U3 Neighboring gene Rho GTPase activating protein 20 pseudogene

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. Recurrent, low-frequency coding variants contributing to colorectal cancer in the Swedish population. Jiao X, et al. PLoS One, 2018. PMID 29547645, Free PMC Article
  2. Cell membrane-bound CD200 signals both via an extracellular domain and following nuclear translocation of a cytoplasmic fragment. Chen Z, et al. Leuk Res, 2018 Jun. PMID 29698858
  3. Five POTE paralogs and their splice variants are expressed in human prostate and encode proteins of different lengths. Bera TK, et al. Gene, 2004 Aug 4. PMID 15276201
  4. Duplication and extensive remodeling shaped POTE family genes encoding proteins containing ankyrin repeat and coiled coil domains. Hahn Y, et al. Gene, 2006 Feb 1. PMID 16364570
  5. POTE, a highly homologous gene family located on numerous chromosomes and expressed in prostate, ovary, testis, placenta, and prostate cancer. Bera TK, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12475935, Free PMC Article

See all (8) citations in PubMed

GeneRIFs: Gene References Into Functions

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

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

General protein information

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Preferred Names
POTE ankyrin domain family member A
Names
ANKRD26-like family A, member 1
cancer/testis antigen family 104, member 3
prostate, ovary, testis-expressed protein on chromosome 8
protein expressed in prostate, ovary, testis, and placenta 8

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.

mRNA and Protein(s)

  1. NM_001002920.1 → NP_001002920.1  POTE ankyrin domain family member A isoform 1

    See identical proteins and their annotated locations for NP_001002920.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter isoform (1). It should be noted that this variant may possibly undergo nonsense-mediated mRNA decay (NMD); this RefSeq is currently being retained because this gene is considered to be protein-coding in the literature, including PMID:15276201.
    Source sequence(s)
    AY462870
    UniProtKB/Swiss-Prot
    Q6S8J7
    Conserved Domains (4) summary
    cd00204
    Location:93 → 218
    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:103 → 195
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:69 → 119
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:133 → 162
    ANK; ANK repeat [structural motif]

  2. NM_001005365.2 → NP_001005365.2  POTE ankyrin domain family member A isoform 2

    See identical proteins and their annotated locations for NP_001005365.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) includes an additional in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (2) that is longer than isoform 1. It should be noted that this variant may possibly undergo nonsense-mediated mRNA decay (NMD); this RefSeq is currently being retained because this gene is considered to be protein-coding in the literature, including PMID:15276201.
    Source sequence(s)
    AY462869
    UniProtKB/Swiss-Prot
    A6ND17, A6ND71, Q6S8J6, Q6S8J7
    Conserved Domains (4) summary
    cd00204
    Location:93 → 218
    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:103 → 195
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:69 → 119
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:164 → 195
    ANK; ANK repeat [structural motif]

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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    43292370..43365175
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024447146.1 → XP_024302914.1  POTE ankyrin domain family member A isoform X2

    Related
    ENSP00000492193.1, ENST00000519951.2
    Conserved Domains (4) summary
    cd00204
    Location:93 → 218
    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:164 → 195
    ANK; ANK repeat [structural motif]
    pfam14915
    Location:452 → 559
    CCDC144C; CCDC144C protein coiled-coil region
    cl25732
    Location:302 → 538
    SMC_N; RecF/RecN/SMC N terminal domain

  2. XM_047421756.1 → XP_047277712.1  POTE ankyrin domain family member A isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    43566549..43639364
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054360426.1 → XP_054216401.1  POTE ankyrin domain family member A isoform X2

  2. XM_054360425.1 → XP_054216400.1  POTE ankyrin domain family member A isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6S8J7.1 GenPept UniProtKB/Swiss-Prot:Q6S8J7

Gene LinkOut

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Chemical Information
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