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

Gene ID: 653269, updated on 11-Apr-2024

Summary

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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
all
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Genomic context

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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

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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. 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
  2. Identification of a novel actin isoform in hepatocellular carcinoma. Chang KW, et al. Hepatol Res, 2006 Sep. PMID 16824795
  3. Plk4 Promotes Cancer Invasion and Metastasis through Arp2/3 Complex Regulation of the Actin Cytoskeleton. Kazazian K, et al. Cancer Res, 2017 Jan 15. PMID 27872092
  4. RNF12 catalyzes BRF1 ubiquitination and regulates RNA polymerase III-dependent transcription. Wang F, et al. J Biol Chem, 2019 Jan 4. PMID 30413534, Free PMC Article
  5. HSP27 and HSP70 interact with CD10 in C4-2 prostate cancer cells. Dall'Era MA, et al. Prostate, 2007 May 15. PMID 17342744

See all (24) 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 variants in ClinVar

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

Homology

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

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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_001277406.2 → NP_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:370 → 607
    2A1904; K+-dependent Na+/Ca+ exchanger
    sd00045
    Location:238 → 269
    ANK; ANK repeat [structural motif]
    pfam14915
    Location:648 → 701
    CCDC144C; CCDC144C protein coiled-coil region
    cl17037
    Location:701 → 1075
    NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
    cl39094
    Location:158 → 361
    Ank_2; Ankyrin repeats (3 copies)

  2. NM_001371926.1 → NP_001358855.1  POTE ankyrin domain family member I isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC013269, AC132479
    Conserved Domains (4) summary
    sd00045
    Location:238 → 269
    ANK; ANK repeat [structural motif]
    pfam14915
    Location:670 → 723
    CCDC144C; CCDC144C protein coiled-coil region
    cl17037
    Location:723 → 1097
    NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
    cl39094
    Location:158 → 361
    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_024453046.2 → XP_024308814.1  POTE ankyrin domain family member I isoform X2

    UniProtKB/Swiss-Prot
    P0CG38
    Conserved Domains (5) summary
    TIGR00927
    Location:370 → 607
    2A1904; K+-dependent Na+/Ca+ exchanger
    sd00045
    Location:238 → 269
    ANK; ANK repeat [structural motif]
    pfam14915
    Location:648 → 701
    CCDC144C; CCDC144C protein coiled-coil region
    cl17037
    Location:701 → 1075
    NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
    cl39094
    Location:158 → 361
    Ank_2; Ankyrin repeats (3 copies)

  2. XM_017004732.3 → XP_016860221.1  POTE ankyrin domain family member I isoform X1

    Conserved Domains (5) summary
    smart00268
    Location:715 → 1085
    ACTIN; Actin
    cd00204
    Location:167 → 302
    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:253 → 345
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:248 → 279
    ANK; ANK repeat [structural motif]
    cl17037
    Location:711 → 1085
    NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

  3. XM_017004733.2 → XP_016860222.1  POTE ankyrin domain family member I isoform X3

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

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

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

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

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P0CG38.1 GenPept UniProtKB/Swiss-Prot:P0CG38

Gene LinkOut

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