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    POTEM POTE ankyrin domain family member M [ Homo sapiens (human) ]

    Gene ID: 641455, updated on 10-Oct-2023

    Summary

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    Official Symbol
    POTEMprovided by HGNC
    Official Full Name
    POTE ankyrin domain family member Mprovided by HGNC
    Primary source
    HGNC:HGNC:37096
    See related
    Ensembl:ENSG00000222036 AllianceGenome:HGNC:37096
    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
    ACT; P704P; POTE14beta
    Summary
    Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in prostate (RPKM 10.9) and testis (RPKM 2.3) See more
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    Genomic context

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    Location:
    14q11.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (18967434..19003752)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (13280571..13316879)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (19983954..20020272, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene neurofibromin 1 pseudogene 7 Neighboring gene mediator complex subunit 15 pseudogene 6 Neighboring gene uncharacterized LOC100508046 Neighboring gene NANOG hESC enhancer GRCh37_chr14:20009730-20010231 Neighboring gene RNA, U6 small nuclear 1239, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:19979352-19979852 Neighboring gene ACTB pseudogene 10 Neighboring gene GRAM domain containing 4 pseudogene 4 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:19944999-19945575 Neighboring gene double homeobox A pseudogene 9 Neighboring gene BMS1 pseudogene 18

    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. 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
    2. Identification of a novel actin isoform in hepatocellular carcinoma. Chang KW, et al. Hepatol Res, 2006 Sep. PMID 16824795
    3. TRIP12 ubiquitination of glucocerebrosidase contributes to neurodegeneration in Parkinson's disease. Seo BA, et al. Neuron, 2021 Dec 1. PMID 34644545, Free PMC Article
    4. The DNA sequence and analysis of human chromosome 14. Heilig R, et al. Nature, 2003 Feb 6. PMID 12508121
    5. The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis. Capalbo L, et al. Nat Commun, 2019 Oct 4. PMID 31586073, Free PMC Article

    See all (6) citations in PubMed

    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)

    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
    putative POTE ankyrin domain family member M
    Names
    ANKRD26-like family C member ENSP00000349402
    prostate-specific P704P

    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_001145442.1 → NP_001138914.1  putative POTE ankyrin domain family member M

      See identical proteins and their annotated locations for NP_001138914.1

      Status: VALIDATED

      Source sequence(s)
      AL589182, AL929601
      Consensus CDS
      CCDS73609.1
      UniProtKB/Swiss-Prot
      A6NI47
      UniProtKB/TrEMBL
      A0A087X187
      Related
      ENSP00000448062.2, ENST00000547889.6
      Conserved Domains (4) summary
      cd00204
      Location:167 → 292
      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:177 → 269
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:143 → 193
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:238 → 269
      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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      18967434..19003752
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      13280571..13316879
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NI47.2 GenPept UniProtKB/Swiss-Prot:A6NI47

    Gene LinkOut

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

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