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

Gene ID: 728378, updated on 3-Nov-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
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 blood microparticle and extracellular exosome. [provided by Alliance of Genome Resources, Nov 2024]
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_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (130073535..130129222, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (130496742..130563302, complement)
RS_2024_09 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 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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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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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)

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 binding IPI
Inferred from Physical Interaction
more info
 PubMed 
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_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
    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

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.

Chemical Information
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