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

    Gene ID: 340441, updated on 27-Nov-2024

    Summary

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    Official Symbol
    POTEAprovided by HGNC
    Official Full Name
    POTE ankyrin domain family member A (gene/pseudogene)provided 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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    See POTEA in Genome Data Viewer
    Location:
    8p11.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (43292370..43365175)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (43566549..43639364)
    RS_2024_09 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)

    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
    POTE ankyrin domain family, member A
    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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    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_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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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