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

Summary

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 transmembrane protein dislocase activity. Predicted to be involved in cellular calcium ion homeostasis and extraction of mislocalized protein from ER membrane. Predicted to act upstream of or within protein transport. Located in endoplasmic reticulum membrane. Orthologous to human ATP13A1 (ATPase 13A1). [provided by Alliance of Genome Resources, Apr 2022]
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

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_000074.7 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: 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?

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.
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.
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.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Atp13a1 (e-PCR), detects polymorphism
- UniSTS:527258

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 metal ion binding	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables transporter activity	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 intracellular calcium ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within 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
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
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
located_in membrane	IEA Inferred from Electronic Annotation more info

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

EC 7.2.2.10

XP_006509627.1

EC 7.2.2.10

XP_030099178.1

EC 7.2.2.10

XP_030099179.1

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_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

NC_000074.7 Reference GRCm39 C57BL/6J

Range

70243813..70260399

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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