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ATP13A5 ATPase 13A5 [ Homo sapiens (human) ]

Gene ID: 344905, updated on 5-Mar-2024

Summary

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Official Symbol
ATP13A5provided by HGNC
Official Full Name
ATPase 13A5provided by HGNC
Primary source
HGNC:HGNC:31789
See related
Ensembl:ENSG00000187527 MIM:619119; AllianceGenome:HGNC:31789
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This gene encodes a member of the P5 subfamily of P-type transport ATPases. P-type ATPases form a large superfamily of cation and lipid pumps that transport inorganic cations and other substrates across cell membranes. P5 ATPases are localized to membranes of the endoplasmic reticulum (ER) and serve many important functions including transport of cargo proteins to the Golgi, glycosylation and cell wall biosynthesis, control of protein insertion orientation, 3-hydroxy-3-methylglutaryl-CoA reductase (HMGR) degradation, and sensitivity to unfolded protein response (UPR) activators. The encoded protein is organized into three cytoplasmic domains (A, P, and N) and two membrane-embedded domains (T and S). The N-domain binds ATP and serves as a built-in protein kinase, which phosphorylates the P-domain. The A-domain is an intrinsic protein phosphatase, which dephosphorylates the P-domain once during each catalytic cycle. [provided by RefSeq, Jul 2017]
Expression
Biased expression in salivary gland (RPKM 2.0), skin (RPKM 0.9) and 5 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
3q29
Exon count:
31
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (193274789..193378753, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (195970174..196074132, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (192992578..193096542, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374280 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15008 Neighboring gene uncharacterized protein MGC2889 Neighboring gene phospholipase A and acyltransferase 1 Neighboring gene ATP13A5 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:193065706-193066384 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:193107044-193107612 Neighboring gene ATPase 13A4 Neighboring gene ATP13A4 antisense RNA 1 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 23

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. Structural divergence between the two subgroups of P5 ATPases. Sørensen DM, et al. Biochim Biophys Acta, 2010 Jun-Jul. PMID 20416272
  2. Phylogenetic analysis of P5 P-type ATPases, a eukaryotic lineage of secretory pathway pumps. Møller AB, et al. Mol Phylogenet Evol, 2008 Feb. PMID 18155930
  3. Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25-q29 inversion in an individual with language delay. Kwasnicka-Crawford DA, et al. Genomics, 2005 Aug. PMID 15925480
  4. Parkinson disease related ATP13A2 evolved early in animal evolution. Sørensen DM, et al. PLoS One, 2018. PMID 29505581, Free PMC Article
  5. Characterization of the P5 subfamily of P-type transport ATPases in mice. Schultheis PJ, et al. Biochem Biophys Res Commun, 2004 Oct 22. PMID 15381061

See all (10) citations in PubMed

GeneRIFs: Gene References Into Functions

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ16025

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables ATP hydrolysis activity IEA
Inferred from Electronic Annotation
more info
  
enables ATPase-coupled monoatomic cation transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ATPase-coupled monoatomic cation transmembrane transporter activity TAS
Traceable Author Statement
more info
  
enables P-type ion transporter activity IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables polyamine transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in intracellular calcium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in monoatomic cation transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in monoatomic ion transmembrane transport TAS
Traceable Author Statement
more info
  
involved_in polyamine transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in late endosome membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
probable cation-transporting ATPase 13A5
Names
ATPase type 13A5
P5-ATPase
NP_940907.2
XP_011511072.1
XP_016861794.1
XP_047304031.1
XP_054202409.1
XP_054202410.1
XP_054202411.1

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_198505.4 → NP_940907.2  probable cation-transporting ATPase 13A5

    See identical proteins and their annotated locations for NP_940907.2

    Status: REVIEWED

    Source sequence(s)
    AC105057
    Consensus CDS
    CCDS33914.1
    UniProtKB/Swiss-Prot
    Q4VNC0, Q6UWS4, Q6ZWL0
    Related
    ENSP00000341942.4, ENST00000342358.9
    Conserved Domains (6) summary
    COG4087
    Location:822 → 871
    COG4087; Soluble P-type ATPase [General function prediction only]
    TIGR01657
    Location:18 → 1119
    P-ATPase-V; P-type ATPase of unknown pump specificity (type V)
    pfam00122
    Location:228 → 471
    E1-E2_ATPase; E1-E2 ATPase
    pfam00690
    Location:170 → 239
    Cation_ATPase_N; Cation transporter/ATPase, N-terminus
    pfam12409
    Location:17 → 137
    P5-ATPase; P5-type ATPase cation transporter
    pfam13246
    Location:595 → 636
    Cation_ATPase; Cation transport ATPase (P-type)

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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    193274789..193378753 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047448075.1 → XP_047304031.1  probable cation-transporting ATPase 13A5 isoform X2

  2. XM_017006305.1 → XP_016861794.1  probable cation-transporting ATPase 13A5 isoform X3

  3. XM_011512770.3 → XP_011511072.1  probable cation-transporting ATPase 13A5 isoform X1

    Conserved Domains (6) summary
    COG4087
    Location:822 → 871
    COG4087; Soluble P-type ATPase [General function prediction only]
    TIGR01494
    Location:230 → 945
    ATPase_P-type; ATPase, P-type (transporting), HAD superfamily, subfamily IC
    pfam00122
    Location:228 → 471
    E1-E2_ATPase; E1-E2 ATPase
    pfam00690
    Location:170 → 239
    Cation_ATPase_N; Cation transporter/ATPase, N-terminus
    pfam12409
    Location:17 → 137
    P5-ATPase; P5-type ATPase cation transporter
    pfam13246
    Location:595 → 636
    Cation_ATPase; Cation transport ATPase (P-type)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    195970174..196074132 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054346435.1 → XP_054202410.1  probable cation-transporting ATPase 13A5 isoform X2

  2. XM_054346436.1 → XP_054202411.1  probable cation-transporting ATPase 13A5 isoform X3

  3. XM_054346434.1 → XP_054202409.1  probable cation-transporting ATPase 13A5 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q4VNC0.1 GenPept UniProtKB/Swiss-Prot:Q4VNC0

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