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    POTEI POTE ankyrin domain family member I [ Homo sapiens (human) ]

    Gene ID: 653269, updated on 10-Dec-2024

    Summary

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    Official Symbol
    POTEIprovided by HGNC
    Official Full Name
    POTE ankyrin domain family member Iprovided by HGNC
    Primary source
    HGNC:HGNC:37093
    See related
    Ensembl:ENSG00000196834 AllianceGenome:HGNC:37093
    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
    POTE2beta
    Summary
    Predicted to enable protein kinase binding activity. Predicted to be a structural constituent of postsynaptic actin cytoskeleton. Predicted to be involved in axonogenesis and cell motility. Located in extracellular exosome. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in testis (RPKM 2.9), prostate (RPKM 1.4) and 3 other tissues See more
    Orthologs
    all
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    Genomic context

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    See POTEI in Genome Data Viewer
    Location:
    2q21.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (130459455..130509707, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (130893363..130943575, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (131217028..131267280, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene fatty acyl-CoA reductase 2 pseudogene 2 Neighboring gene Kruppel like factor 2 pseudogene 2 Neighboring gene cytochrome P450 family 4 subfamily F member 62, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:131206043-131206542 Neighboring gene RNA, U6 small nuclear 473, pseudogene Neighboring gene cryptic, EGF-CFC family member 1B Neighboring gene serine protease 40B (pseudogene)

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 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. Plk4 Promotes Cancer Invasion and Metastasis through Arp2/3 Complex Regulation of the Actin Cytoskeleton. Kazazian K, et al. Cancer Res, 2017 Jan 15. PMID 27872092
    4. RNF12 catalyzes BRF1 ubiquitination and regulates RNA polymerase III-dependent transcription. Wang F, et al. J Biol Chem, 2019 Jan 4. PMID 30413534, Free PMC Article
    5. HSP27 and HSP70 interact with CD10 in C4-2 prostate cancer cells. Dall'Era MA, et al. Prostate, 2007 May 15. PMID 17342744

    See all (30) 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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein kinase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables structural constituent of postsynaptic actin cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in axonogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell motility IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in postsynaptic actin cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of NuA4 histone acetyltransferase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in actin cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in actin filament IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in axon IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in extracellular space HDA PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    POTE ankyrin domain family member I

    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_001277406.2 → NP_001264335.1  POTE ankyrin domain family member I isoform 2

      See identical proteins and their annotated locations for NP_001264335.1

      Status: VALIDATED

      Source sequence(s)
      AC013269, AC132479
      Consensus CDS
      CCDS59431.1
      UniProtKB/Swiss-Prot
      P0CG38
      Related
      ENSP00000392718.2, ENST00000451531.7
      Conserved Domains (5) summary
      TIGR00927
      Location:370 → 607
      2A1904; K+-dependent Na+/Ca+ exchanger
      sd00045
      Location:238 → 269
      ANK; ANK repeat [structural motif]
      pfam14915
      Location:648 → 701
      CCDC144C; CCDC144C protein coiled-coil region
      cl17037
      Location:701 → 1075
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
      cl39094
      Location:158 → 361
      Ank_2; Ankyrin repeats (3 copies)

    2. NM_001371926.1 → NP_001358855.1  POTE ankyrin domain family member I isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC013269, AC132479
      Conserved Domains (4) summary
      sd00045
      Location:238 → 269
      ANK; ANK repeat [structural motif]
      pfam14915
      Location:670 → 723
      CCDC144C; CCDC144C protein coiled-coil region
      cl17037
      Location:723 → 1097
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
      cl39094
      Location:158 → 361
      Ank_2; Ankyrin repeats (3 copies)

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      130459455..130509707 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024453046.2 → XP_024308814.1  POTE ankyrin domain family member I isoform X2

      UniProtKB/Swiss-Prot
      P0CG38
      Conserved Domains (5) summary
      TIGR00927
      Location:370 → 607
      2A1904; K+-dependent Na+/Ca+ exchanger
      sd00045
      Location:238 → 269
      ANK; ANK repeat [structural motif]
      pfam14915
      Location:648 → 701
      CCDC144C; CCDC144C protein coiled-coil region
      cl17037
      Location:701 → 1075
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
      cl39094
      Location:158 → 361
      Ank_2; Ankyrin repeats (3 copies)

    2. XM_017004732.3 → XP_016860221.1  POTE ankyrin domain family member I isoform X1

      Conserved Domains (5) summary
      smart00268
      Location:715 → 1085
      ACTIN; Actin
      cd00204
      Location:167 → 302
      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:253 → 345
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:248 → 279
      ANK; ANK repeat [structural motif]
      cl17037
      Location:711 → 1085
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

    3. XM_017004733.2 → XP_016860222.1  POTE ankyrin domain family member I isoform X3

    4. XM_017004734.3 → XP_016860223.1  POTE ankyrin domain family member I isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      130893363..130943575 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343473.1 → XP_054199448.1  POTE ankyrin domain family member I isoform X2

    2. XM_054343472.1 → XP_054199447.1  POTE ankyrin domain family member I isoform X1

    3. XM_054343474.1 → XP_054199449.1  POTE ankyrin domain family member I isoform X3

    4. XM_054343475.1 → XP_054199450.1  POTE ankyrin domain family member I isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0CG38.1 GenPept UniProtKB/Swiss-Prot:P0CG38

    Gene LinkOut

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

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