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    POTEF POTE ankyrin domain family member F [ Homo sapiens (human) ]

    Gene ID: 728378, updated on 17-Aug-2024

    Summary

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    Official Symbol
    POTEFprovided by HGNC
    Official Full Name
    POTE ankyrin domain family member Fprovided by HGNC
    Primary source
    HGNC:HGNC:33905
    See related
    Ensembl:ENSG00000196604 AllianceGenome:HGNC:33905
    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
    ACTB; A26C1B; POTEACTIN; POTE2alpha
    Summary
    Involved in retina homeostasis. Located in blood microparticle and extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in testis (RPKM 2.4), prostate (RPKM 1.0) and 12 other tissues See more
    Orthologs
    all
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    Genomic context

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    See POTEF 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 (130073535..130129222, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (130496742..130563302, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (130831108..130886795, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene fatty acyl-CoA reductase 2 pseudogene 1 Neighboring gene Kruppel like factor 2 pseudogene 1 Neighboring gene cytochrome P450 family 4 subfamily F member 27, pseudogene Neighboring gene RNA, U6 small nuclear 1049, pseudogene Neighboring gene POTEF antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:130886707-130887281 Neighboring gene mediator complex subunit 15 pseudogene 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16521 Neighboring gene coiled-coil domain containing 74B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16523 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:130917957-130918586 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:130921824-130922007 Neighboring gene sphingomyelin phosphodiesterase 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:130938087-130938883 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11953 Neighboring gene mitotic spindle organizing protein 2B

    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. A primate-specific POTE-actin fusion protein plays a role in apoptosis. Liu XF, et al. Apoptosis, 2009 Oct. PMID 19669888, Free PMC Article
    2. Evolution and expression of chimeric POTE-actin genes in the human genome. Lee Y, et al. Proc Natl Acad Sci U S A, 2006 Nov 21. PMID 17101985, Free PMC Article
    3. Identification of a novel actin isoform in hepatocellular carcinoma. Chang KW, et al. Hepatol Res, 2006 Sep. PMID 16824795
    4. Rab11-FIP1 and Rab11-FIP5 Regulate pIgR/pIgA Transcytosis through TRIM21-Mediated Polyubiquitination. Fan X, et al. Int J Mol Sci, 2021 Sep 28. PMID 34638806, Free PMC Article
    5. The N-terminal domain of the Schaaf-Yang syndrome protein MAGEL2 likely has a role in RNA metabolism. Sanderson MR, et al. J Biol Chem, 2021 Aug. PMID 34265304, Free PMC Article

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. beta-Actin G342D as a Cause of NK Cell Deficiency Impairing Lytic Synapse Termination.
      Title: β-Actin G342D as a Cause of NK Cell Deficiency Impairing Lytic Synapse Termination.
    2. The Role of Trp79 in beta-Actin on Histidine Methyltransferase SETD3 Catalysis.
      Title: The Role of Trp79 in β-Actin on Histidine Methyltransferase SETD3 Catalysis.
    3. POTE gene family encodes a new family of proapoptotic proteins.
      Title: A primate-specific POTE-actin fusion protein plays a role in apoptosis.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    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

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human POTE ankyrin domain family, member F (POTEF) at amino acid residues 7-8 by the HIV-1 protease PubMed

    Go to the HIV-1, Human Interaction Database

    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
    		  
    located_in blood microparticle HDA PubMed 
    located_in cell cortex IEA
    Inferred from Electronic Annotation
    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 F
    Names
    ANKRD26-like family C member 1B
    POTE-2 alpha-actin
    beta actin
    chimeric POTE-actin protein
    prostate, ovary, testis expressed protein on chromosome 2

    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_001099771.2 → NP_001093241.1  POTE ankyrin domain family member F

      See identical proteins and their annotated locations for NP_001093241.1

      Status: VALIDATED

      Source sequence(s)
      AC018804, AC018865
      Consensus CDS
      CCDS46409.1
      UniProtKB/Swiss-Prot
      A5A3E0, A6NC34
      Related
      ENSP00000386786.2, ENST00000409914.7
      Conserved Domains (6) summary
      smart00268
      Location:705 → 1074
      ACTIN; Actin
      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]
      cl17037
      Location:701 → 1075
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

    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
      130073535..130129222 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047445721.1 → XP_047301677.1  POTE ankyrin domain family member F isoform X2

      UniProtKB/Swiss-Prot
      A5A3E0, A6NC34

    2. XM_017004833.2 → XP_016860322.1  POTE ankyrin domain family member F isoform X1

    3. XM_017004834.2 → XP_016860323.1  POTE ankyrin domain family member F isoform X3

    4. XM_017004835.2 → XP_016860324.1  POTE ankyrin domain family member F isoform X4

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791762.1 Reference GRCh38.p14 PATCHES

      Range
      241401..305918 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332885.1 → XP_054188860.1  POTE ankyrin domain family member F isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      130496742..130563302 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343706.1 → XP_054199681.1  POTE ankyrin domain family member F isoform X2

    2. XM_054343705.1 → XP_054199680.1  POTE ankyrin domain family member F isoform X5

      UniProtKB/TrEMBL
      A0A087X187
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A5A3E0.2 GenPept UniProtKB/Swiss-Prot:A5A3E0

    Gene LinkOut

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

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