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    ATP13A1 ATPase 13A1 [ Homo sapiens (human) ]

    Gene ID: 57130, updated on 10-Dec-2024

    Summary

    Official Symbol
    ATP13A1provided by HGNC
    Official Full Name
    ATPase 13A1provided by HGNC
    Primary source
    HGNC:HGNC:24215
    See related
    Ensembl:ENSG00000105726 MIM:619118; AllianceGenome:HGNC:24215
    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
    ATP13A; CGI-152
    Summary
    Enables membrane protein dislocase activity. Involved in extraction of mislocalized protein from ER membrane. Located in membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in spleen (RPKM 18.6), testis (RPKM 14.9) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See ATP13A1 in Genome Data Viewer
    Location:
    19p13.11
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (19645198..19663676, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (19782708..19801186, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (19756007..19774485, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 12805 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10451 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19739417-19740339 Neighboring gene lysophosphatidic acid receptor 2 Neighboring gene GEM interacting protein Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19753343-19754298 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10453 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19772231-19772878 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14368 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:19773833-19774815 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10455 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19779337-19779903 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19779904-19780469 Neighboring gene zinc finger protein 101 Neighboring gene zinc finger protein 14 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10457

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ31858, FLJ41786, FLJ43873, FLJ90317, KIAA1825, DKFZp761L1623

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ABC-type manganese transporter activity TAS
    Traceable Author Statement
    more info
     
    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 membrane protein dislocase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables membrane protein dislocase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in intracellular calcium ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in manganese ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in monoatomic ion transmembrane transport TAS
    Traceable Author Statement
    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
     
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in membrane HDA PubMed 

    General protein information

    Preferred Names
    endoplasmic reticulum transmembrane helix translocase
    Names
    ATPase type 13A1
    cation transporting ATPase
    endoplasmic reticulum P5A-ATPase
    manganese-transporting ATPase 13A1
    probable cation-transporting ATPase 13A1
    NP_065143.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_020410.3NP_065143.2  endoplasmic reticulum transmembrane helix translocase

      See identical proteins and their annotated locations for NP_065143.2

      Status: VALIDATED

      Source sequence(s)
      AB058728, BC009302, DA103408
      Consensus CDS
      CCDS32970.2
      UniProtKB/Swiss-Prot
      B3KPJ2, B3KTA7, Q6NT90, Q6ZMG7, Q9H6C6, Q9HD20
      Related
      ENSP00000349877.6, ENST00000357324.11
      Conserved Domains (5) summary
      COG4087
      Location:831884
      COG4087; Soluble P-type ATPase [General function prediction only]
      TIGR01657
      Location:851173
      P-ATPase-V; P-type ATPase of unknown pump specificity (type V)
      pfam00122
      Location:298510
      E1-E2_ATPase; E1-E2 ATPase
      pfam12710
      Location:643873
      HAD; haloacid dehalogenase-like hydrolase
      pfam13246
      Location:584667
      Cation_ATPase; Cation transport ATPase (P-type)

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      19645198..19663676 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      19782708..19801186 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)