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

    Gene ID: 653269, updated on 5-May-2024

    Summary

    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
    Involved in retina homeostasis. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in testis (RPKM 2.9), prostate (RPKM 1.4) and 3 other tissues See more
    Orthologs
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    Try the new Transcript table

    Genomic context

    See POTEI in Genome Data Viewer
    Location:
    2q21.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (130459455..130509707, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (130893363..130943575, complement)
    105.20220307 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

    Expression

    • 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
     
    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

    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_001277406.2NP_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:370607
      2A1904; K+-dependent Na+/Ca+ exchanger
      sd00045
      Location:238269
      ANK; ANK repeat [structural motif]
      pfam14915
      Location:648701
      CCDC144C; CCDC144C protein coiled-coil region
      cl17037
      Location:7011075
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
      cl39094
      Location:158361
      Ank_2; Ankyrin repeats (3 copies)
    2. NM_001371926.1NP_001358855.1  POTE ankyrin domain family member I isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC013269, AC132479
      Conserved Domains (4) summary
      sd00045
      Location:238269
      ANK; ANK repeat [structural motif]
      pfam14915
      Location:670723
      CCDC144C; CCDC144C protein coiled-coil region
      cl17037
      Location:7231097
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
      cl39094
      Location:158361
      Ank_2; Ankyrin repeats (3 copies)

    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_000002.12 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

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

      UniProtKB/Swiss-Prot
      P0CG38
      Conserved Domains (5) summary
      TIGR00927
      Location:370607
      2A1904; K+-dependent Na+/Ca+ exchanger
      sd00045
      Location:238269
      ANK; ANK repeat [structural motif]
      pfam14915
      Location:648701
      CCDC144C; CCDC144C protein coiled-coil region
      cl17037
      Location:7011075
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
      cl39094
      Location:158361
      Ank_2; Ankyrin repeats (3 copies)
    2. XM_017004732.3XP_016860221.1  POTE ankyrin domain family member I isoform X1

      Conserved Domains (5) summary
      smart00268
      Location:7151085
      ACTIN; Actin
      cd00204
      Location:167302
      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:253345
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:248279
      ANK; ANK repeat [structural motif]
      cl17037
      Location:7111085
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
    3. XM_017004733.2XP_016860222.1  POTE ankyrin domain family member I isoform X3

    4. XM_017004734.3XP_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_054343473.1XP_054199448.1  POTE ankyrin domain family member I isoform X2

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

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

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