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    ATP13A5 ATPase 13A5 [ Homo sapiens (human) ]

    Gene ID: 344905, updated on 17-Jun-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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    See ATP13A5 in Genome Data Viewer
    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

    Gene LinkOut

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