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    POTEH POTE ankyrin domain family member H [ Homo sapiens (human) ]

    Gene ID: 23784, updated on 10-Dec-2024

    Summary

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    Official Symbol
    POTEHprovided by HGNC
    Official Full Name
    POTE ankyrin domain family member Hprovided by HGNC
    Primary source
    HGNC:HGNC:133
    See related
    Ensembl:ENSG00000198062 MIM:608913; AllianceGenome:HGNC:133
    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
    A26C3; ACTBL1; POTE22; CT104.7
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward prostate (RPKM 11.9) See more
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    Genomic context

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    See POTEH in Genome Data Viewer
    Location:
    22q11.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (15690026..15721631)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (16263953..16295528)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (16256332..16287937, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene neurofibromin 1 pseudogene 6 Neighboring gene mediator complex subunit 15 pseudogene 7 Neighboring gene mediator complex subunit 15 pseudogene 7 Neighboring gene POTEH antisense RNA 1 Neighboring gene RNA, U6 small nuclear 816, pseudogene Neighboring gene prostate enriched lncRNA Neighboring gene GRAM domain containing 4 pseudogene 2 Neighboring gene OCT4 hESC enhancer GRCh37_chr22:16212624-16213125 Neighboring gene double homeobox A pseudogene 8 Neighboring gene BMS1 pseudogene 22

    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. POTEH hypomethylation, a new epigenetic biomarker for glioma prognosis. Liu X, et al. Brain Res, 2011 May 19. PMID 21439273
    2. 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
    3. 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
    4. The DNA sequence of human chromosome 22. Dunham I, et al. Nature, 1999 Dec 2. PMID 10591208
    5. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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 H
    Names
    ANKRD26-like family C member 3
    actin, beta-like 1
    cancer/testis antigen family 104, member 7
    prostate, ovary, testis-expressed protein on chromosome 22
    protein expressed in prostate, ovary, testis, and placenta 22
    protein expressed in prostate, ovary, testis, and placenta POTE14 like

    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_001136213.1 → NP_001129685.1  POTE ankyrin domain family member H

      See identical proteins and their annotated locations for NP_001129685.1

      Status: VALIDATED

      Source sequence(s)
      AP000529, CR545463
      Consensus CDS
      CCDS74808.1
      UniProtKB/Swiss-Prot
      A2CEK4, A6NCI1, A9Z1W0, Q6S545
      UniProtKB/TrEMBL
      A0A087X187
      Related
      ENSP00000340610.6, ENST00000343518.11
      Conserved Domains (4) summary
      cd00204
      Location:204 → 329
      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:214 → 306
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:180 → 230
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:275 → 306
      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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      15690026..15721631
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      16263953..16295528
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001004053.2: Suppressed sequence

      Description
      NM_001004053.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6S545.3 GenPept UniProtKB/Swiss-Prot:Q6S545

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