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ATP13A1 ATPase 13A1 [ Homo sapiens (human) ]

Gene ID: 57130, updated on 22-Sep-2022

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 transmembrane protein dislocase activity. Involved in extraction of mislocalized protein from ER membrane. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in spleen (RPKM 18.6), testis (RPKM 14.9) and 25 other tissues See more
Orthologs
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Genomic context

See ATP13A1 in Genome Data Viewer
Location:
19p13.11
Exon count:
26
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (19645198..19663676, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (19782708..19801186, complement)
105.20220307 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 lysophosphatidic acid receptor 2 Neighboring gene GEM interacting protein Neighboring gene conserved acetylation island sequence C14 enhancer Neighboring gene zinc finger protein 101 Neighboring gene zinc finger protein 14

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

Homology

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 P-type ion transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables transmembrane protein dislocase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables transmembrane protein dislocase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in cellular calcium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in extraction of mislocalized protein from ER membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in extraction of mislocalized protein from ER membrane IDA
Inferred from Direct Assay
more info
PubMed 
involved_in ion transmembrane transport TAS
Traceable Author Statement
more info
 
involved_in manganese ion transmembrane transport IEA
Inferred from Electronic Annotation
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
PubMed 
Component Evidence Code Pubs
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
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)

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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_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
    Q9H6C6, Q9HD20
    UniProtKB/TrEMBL
    A0A024R7N2
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)