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    POTEKP POTE ankyrin domain family member K, pseudogene [ Homo sapiens (human) ]

    Gene ID: 440915, updated on 5-May-2024

    Summary

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    Official Symbol
    POTEKPprovided by HGNC
    Official Full Name
    POTE ankyrin domain family member K, pseudogeneprovided by HGNC
    Primary source
    HGNC:HGNC:30182
    See related
    MIM:611266; AllianceGenome:HGNC:30182
    Gene type
    pseudo
    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; POTEK; ACTBL3; POTE2delta
    Summary
    Predicted to be a structural constituent of postsynaptic actin cytoskeleton. Predicted to be involved in postsynaptic actin cytoskeleton organization. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Restricted expression toward testis (RPKM 4.4) See more
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    Genomic context

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    See POTEKP in Genome Data Viewer
    Location:
    2q21.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (131592042..131626429)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (132026723..132061081)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (132349615..132384002)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11967 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11968 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16534 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16535 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:132293270-132293826 Neighboring gene coiled-coil domain containing 74A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:132300775-132301276 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:132301277-132301776 Neighboring gene mediator complex subunit 15 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11969 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16536 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:132349769-132349979 Neighboring gene RNA, U6 small nuclear 617, pseudogene Neighboring gene long intergenic non-protein coding RNA 1087 Neighboring gene GRAM domain containing 4 pseudogene 8 Neighboring gene CRISPRi-validated cis-regulatory element chr2.4815 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:132429946-132430584 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:132430585-132431224 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:132431225-132431862 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16539 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11970 Neighboring gene long intergenic non-protein coding RNA 3124 Neighboring gene TOMM40 pseudogene 4 Neighboring gene neurobeachin pseudogene 2

    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. Long non-coding RNA PVT1 encapsulated in bone marrow mesenchymal stem cell-derived exosomes promotes osteosarcoma growth and metastasis by stabilizing ERG and sponging miR-183-5p. Zhao W, et al. Aging (Albany NY), 2019 Nov 7. PMID 31699956, Free PMC Article
    2. 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
    3. Identification of a novel actin isoform in hepatocellular carcinoma. Chang KW, et al. Hepatol Res, 2006 Sep. PMID 16824795
    4. Characterization of the proteins of isolated human platelet alpha-granules. Evidence for a separate alpha-granule-pool of the glycoproteins IIb and IIIa. Gogstad GO, et al. Biochim Biophys Acta, 1981 Sep 29. PMID 6457647
    5. Highly efficient purification of protein complexes from mammalian cells using a novel streptavidin-binding peptide and hexahistidine tandem tag system: application to Bruton's tyrosine kinase. Li Y, et al. Protein Sci, 2011 Jan. PMID 21080425, Free PMC Article

    See all (28) 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 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

    Other Names

    • actin, beta-like 3
    • actin-like protein
    • beta-actin-like protein 3
    • kappa-actin

    Clone Names

    • FKSG30

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    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 cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    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
    		  

    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.

    RNA

    1. NR_033885.3 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC093838

    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
      131592042..131626429
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      132026723..132061081
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001017421.1: Suppressed sequence

      Description
      NM_001017421.1: This RefSeq was permanently suppressed because the CDS was partial.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BYX7.1 GenPept UniProtKB/Swiss-Prot:Q9BYX7

    Gene LinkOut

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

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