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    Atp13a1 ATPase type 13A1 [ Mus musculus (house mouse) ]

    Gene ID: 170759, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Atp13a1provided by MGI
    Official Full Name
    ATPase type 13A1provided by MGI
    Primary source
    MGI:MGI:2180801
    See related
    Ensembl:ENSMUSG00000031862 AllianceGenome:MGI:2180801
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    catp; Atp13a; Cgi152
    Summary
    Predicted to enable ATPase-coupled monoatomic cation transmembrane transporter activity; P-type ion transporter activity; and membrane protein dislocase activity. Predicted to be involved in extraction of mislocalized protein from ER membrane; intracellular calcium ion homeostasis; and transmembrane transport. Located in endoplasmic reticulum membrane. Orthologous to human ATP13A1 (ATPase 13A1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thymus adult (RPKM 77.4), ovary adult (RPKM 67.7) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Atp13a1 in Genome Data Viewer
    Location:
    8 B3.3; 8 33.88 cM
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (70243813..70260399)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (69791163..69807749)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_21745 Neighboring gene predicted gene, 19893 Neighboring gene zinc finger protein 866 Neighboring gene STARR-positive B cell enhancer ABC_E6643 Neighboring gene STARR-positive B cell enhancer ABC_E6644 Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:72332338-72332525 Neighboring gene Gem-interacting protein Neighboring gene predicted gene, 33695 Neighboring gene lysophosphatidic acid receptor 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The Endoplasmic Reticulum ATP13A1 is Essential for MAVS-Mediated Antiviral Innate Immunity.
      Title: The Endoplasmic Reticulum ATP13A1 is Essential for MAVS-Mediated Antiviral Innate Immunity.
    2. Double mutant mice with loss of Atp13a2 function combined with overexpression of human wildtype aSyn showed an earlier onset and accelerated alterations in sensorimotor function that were age, sex and test-dependent. Female 13a2-aSyn mice showed early and progressive dysfunction on the beam and in locomotor activity. In males, 13a2-aSyn mice showed more severe impairments in spontaneous activity and adhesive removal.
      Title: Exacerbation of sensorimotor dysfunction in mice deficient in Atp13a2 and overexpressing human wildtype alpha-synuclein.
    3. This study revealed a novel role of ATP13A2 in modulating astrocyte-mediated neuroinflammation via NLRP3 inflammasome activation.
      Title: Atp13a2 Deficiency Aggravates Astrocyte-Mediated Neuroinflammation via NLRP3 Inflammasome Activation.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (4) 

    Pathways from PubChem

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    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 MGI

    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 P-type ion transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables P-type transmembrane transporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables membrane protein dislocase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables membrane protein dislocase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables membrane protein dislocase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in extraction of mislocalized protein from ER membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in extraction of mislocalized protein from ER membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in extraction of mislocalized protein from ER membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in intracellular calcium ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    endoplasmic reticulum transmembrane helix translocase
    Names
    cation-transporting ATPase 2
    endoplasmic reticulum P5A-ATPase
    manganese-transporting ATPase 13A1
    probable cation-transporting ATPase 13A1
    NP_573487.2
    XP_006509627.1
    XP_030099178.1
    XP_030099179.1

    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_133224.2 → NP_573487.2  endoplasmic reticulum transmembrane helix translocase

      See identical proteins and their annotated locations for NP_573487.2

      Status: VALIDATED

      Source sequence(s)
      AC157564, AK052057
      Consensus CDS
      CCDS22349.1
      UniProtKB/Swiss-Prot
      B2RS54, Q9EPE9
      UniProtKB/TrEMBL
      Q69Z96
      Related
      ENSMUSP00000034326.7, ENSMUST00000034326.7
      Conserved Domains (5) summary
      COG4087
      Location:828 → 881
      COG4087; Soluble P-type ATPase [General function prediction only]
      TIGR01657
      Location:82 → 1169
      P-ATPase-V; P-type ATPase of unknown pump specificity (type V)
      pfam00122
      Location:295 → 507
      E1-E2_ATPase; E1-E2 ATPase
      pfam12710
      Location:640 → 762
      HAD; haloacid dehalogenase-like hydrolase
      pfam13246
      Location:581 → 664
      Cation_ATPase; Cation transport ATPase (P-type)

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000074.7 Reference GRCm39 C57BL/6J

      Range
      70243813..70260399
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006509564.4 → XP_006509627.1  endoplasmic reticulum transmembrane helix translocase isoform X1

      UniProtKB/TrEMBL
      Q69Z96
      Conserved Domains (1) summary
      cd07543
      Location:211 → 1130
      P-type_ATPase_cation; P-type cation-transporting ATPases, similar to human cation-transporting ATPase type 13A1 (ATP13A1) and Saccharomyces manganese-transporting ATPase 1 Spf1p

    2. XM_030243318.1 → XP_030099178.1  endoplasmic reticulum transmembrane helix translocase isoform X2

      Conserved Domains (1) summary
      cl21460
      Location:29 → 696
      HAD_like; Haloacid Dehalogenase-like Hydrolases

    3. XM_030243319.1 → XP_030099179.1  endoplasmic reticulum transmembrane helix translocase isoform X3

      Conserved Domains (1) summary
      cl21460
      Location:1 → 621
      HAD_like; Haloacid Dehalogenase-like Hydrolases

    RNA

    1. XR_003947239.1 RNA Sequence

      Related
      ENSMUST00000238453.2
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9EPE9.2 GenPept UniProtKB/Swiss-Prot:Q9EPE9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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