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

Gene ID: 440915, updated on 11-Apr-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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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.

Chemical Information
Molecular Biology Databases
Research Materials
Miscellaneous