ATP13A1 ATPase 13A1 [Homo sapiens (human)] - Gene

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, Oct 2024]
Expression: Ubiquitous expression in spleen (RPKM 18.6), testis (RPKM 14.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

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_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

An ATP13A1-assisted topogenesis pathway for folding multi-spanning membrane proteins.
Title: An ATP13A1-assisted topogenesis pathway for folding multi-spanning membrane proteins.
The P5-type ATPase ATP13A1 modulates major histocompatibility complex I-related protein 1 (MR1)-mediated antigen presentation.
Title: The P5-type ATPase ATP13A1 modulates major histocompatibility complex I-related protein 1 (MR1)-mediated antigen presentation.
The endoplasmic reticulum P5A-ATPase is a transmembrane helix dislocase.
Title: The endoplasmic reticulum P5A-ATPase is a transmembrane helix dislocase.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

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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

EBI GWAS Catalog

Description
Genome-wide association study of selenium concentrations. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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 more info	PubMed

General protein information

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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

EC 7.2.2.10

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)

NM_020410.3 → NP_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:831 → 884

COG4087; Soluble P-type ATPase [General function prediction only]

TIGR01657
Location:85 → 1173

P-ATPase-V; P-type ATPase of unknown pump specificity (type V)

pfam00122
Location:298 → 510

E1-E2_ATPase; E1-E2 ATPase

pfam12710
Location:643 → 873

HAD; haloacid dehalogenase-like hydrolase

pfam13246
Location:584 → 667

Cation_ATPase; Cation transport ATPase (P-type)