Atp13a2 ATPase type 13A2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Atp13a2provided by MGI
Official Full Name: ATPase type 13A2provided by MGI
Primary source: MGI:MGI:1922022
See related: Ensembl:ENSMUSG00000036622 AllianceGenome:MGI:1922022
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: 1110012E06Rik
Summary: Predicted to enable ABC-type polyamine transporter activity; phosphatidic acid binding activity; and phosphatidylinositol-3,5-bisphosphate binding activity. Involved in several processes, including autophagosome-lysosome fusion; positive regulation of exosomal secretion; and zinc ion homeostasis. Located in neuron projection; neuronal cell body; and vesicle membrane. Is expressed in alimentary system; eye; genitourinary system; nervous system; and skin. Used to study Kufor-Rakeb syndrome. Human ortholog(s) of this gene implicated in Kufor-Rakeb syndrome; Parkinson's disease; and hereditary spastic paraplegia. Orthologous to human ATP13A2 (ATPase cation transporting 13A2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in spleen adult (RPKM 76.5), ovary adult (RPKM 68.9) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 D3; 4 73.29 cM

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (140711812..140734641)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (140986216..141007330)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

ATP13A2 activates the pentose phosphate pathway to promote colorectal cancer growth though TFEB-PGD axis.
Title: ATP13A2 activates the pentose phosphate pathway to promote colorectal cancer growth though TFEB-PGD axis.
ATP13A2 Declines Zinc-Induced Accumulation of alpha-Synuclein in a Parkinson's Disease Model.
Title: ATP13A2 Declines Zinc-Induced Accumulation of α-Synuclein in a Parkinson's Disease Model.
Heterozygous GBA D409V and ATP13a2 mutations do not exacerbate pathological alpha-synuclein spread in the prodromal preformed fibrils model in young mice.
Title: Heterozygous GBA D409V and ATP13a2 mutations do not exacerbate pathological α-synuclein spread in the prodromal preformed fibrils model in young mice.
Study shows for the first time in vivo that loss of function of ATP13A2 causes an increased sensitivity to manganese.
Title: The effect of manganese exposure in Atp13a2-deficient mice.
Loss of one functional Atp13a2 allele leads to selective gliosis independent of robust lipofuscinosis.
Title: Partial loss of ATP13A2 causes selective gliosis independent of robust lipofuscinosis.
the loss of Atp13a2 causes sensorimotor impairments, alpha-synuclein accumulation as occurs in PD and related synucleinopathies, and accumulation of lipofuscin deposits characteristic of NCL
Title: Atp13a2-deficient mice exhibit neuronal ceroid lipofuscinosis, limited α-synuclein accumulation and age-dependent sensorimotor deficits.
study reveals a number of intriguing neuronal phenotypes due to the loss- or gain-of-function of ATP13A2 that support a role for this protein in regulating intracellular cation homeostasis and neuronal integrity
Title: PARK9-associated ATP13A2 localizes to intracellular acidic vesicles and regulates cation homeostasis and neuronal integrity.
This study showed that ATP13A2 regulates mitochondrial bioenergetics through macroautophagy.
Title: ATP13A2 regulates mitochondrial bioenergetics through macroautophagy.

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Variation

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Alleles

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

Targeted (7) 1 citation
Endonuclease-mediated (4)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Atp13a2 (e-PCR), detects polymorphism
- UniSTS:527259

RH124964 (e-PCR)
- UniSTS:161786

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	IEA Inferred from Electronic Annotation more info
enables P-type transmembrane transporter activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables phosphatidic acid binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-3,5-bisphosphate binding	ISO Inferred from Sequence Orthology more info
enables polyamine transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables transporter activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in autophagosome organization	ISO Inferred from Sequence Orthology more info
involved_in autophagosome-lysosome fusion	IBA Inferred from Biological aspect of Ancestor more info
involved_in autophagosome-lysosome fusion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in autophagosome-lysosome fusion	ISO Inferred from Sequence Orthology more info
involved_in autophagy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in autophagy	ISO Inferred from Sequence Orthology more info
involved_in cellular response to manganese ion	ISO Inferred from Sequence Orthology more info
involved_in cellular response to oxidative stress	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to oxidative stress	ISO Inferred from Sequence Orthology more info
involved_in extracellular exosome biogenesis	ISO Inferred from Sequence Orthology more info
involved_in intracellular calcium ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular calcium ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in intracellular iron ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in intracellular zinc ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular zinc ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in lipid homeostasis	ISO Inferred from Sequence Orthology more info
involved_in lysosomal transport	ISO Inferred from Sequence Orthology more info
involved_in peptidyl-aspartic acid autophosphorylation	ISO Inferred from Sequence Orthology more info
involved_in polyamine transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of exosomal secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of exosomal secretion	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein secretion	ISO Inferred from Sequence Orthology more info
involved_in protein localization to lysosome	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to lysosome	ISO Inferred from Sequence Orthology more info
involved_in regulation of autophagosome size	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of autophagosome size	ISO Inferred from Sequence Orthology more info
involved_in regulation of endopeptidase activity	ISO Inferred from Sequence Orthology more info
involved_in regulation of glucosylceramidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of intracellular protein transport	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of lysosomal protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of lysosomal protein catabolic process	ISO Inferred from Sequence Orthology more info
involved_in regulation of macroautophagy	ISO Inferred from Sequence Orthology more info
involved_in regulation of mitochondrion organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of mitochondrion organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of mitochondrion organization	ISO Inferred from Sequence Orthology more info
involved_in regulation of protein localization to nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of protein localization to nucleus	ISO Inferred from Sequence Orthology more info
involved_in regulation of ubiquitin-specific protease activity	ISO Inferred from Sequence Orthology more info
involved_in spermine transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in autophagosome	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in endosome	IEA Inferred from Electronic Annotation more info
located_in late endosome	ISO Inferred from Sequence Orthology more info
located_in late endosome membrane	ISO Inferred from Sequence Orthology more info
located_in lysosomal membrane	ISO Inferred from Sequence Orthology more info
located_in lysosome	ISO Inferred from Sequence Orthology more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in multivesicular body	ISO Inferred from Sequence Orthology more info
located_in neuron projection	IDA Inferred from Direct Assay more info	PubMed
located_in neuron projection	ISO Inferred from Sequence Orthology more info
located_in neuronal cell body	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in transport vesicle	ISO Inferred from Sequence Orthology more info
located_in vesicle	ISO Inferred from Sequence Orthology more info
located_in vesicle membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: polyamine-transporting ATPase 13A2

Names: cation-transporting ATPase 13A2; probable cation-transporting ATPase 13A2

NP_001157838.1

EC 7.2.2.10

NP_001366548.1

EC 7.2.2.10

NP_001366549.1

EC 7.2.2.10

NP_001366550.1

EC 7.2.2.10

NP_001366551.1

EC 7.2.2.10

NP_083373.2

EC 7.2.2.10

XP_006539299.1

EC 7.2.2.10

XP_006539300.1

EC 7.2.2.10

XP_036020402.1

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_001164366.2 → NP_001157838.1 polyamine-transporting ATPase 13A2 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform 2, which has a shorter and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AL645625

Consensus CDS

CCDS51345.1

UniProtKB/TrEMBL

E9Q2A4

Related

ENSMUSP00000132183.2, ENSMUST00000127833.3

Conserved Domains (6) summary

COG4087
Location:839 → 888

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

TIGR01657
Location:35 → 1067

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

pfam00122
Location:258 → 493

E1-E2_ATPase; E1-E2 ATPase

pfam12409
Location:35 → 161

P5-ATPase; P5-type ATPase cation transporter

pfam13246
Location:621 → 658

Cation_ATPase; Cation transport ATPase (P-type)

cl02930
Location:188 → 260

Cation_ATPase_N; Cation transporter/ATPase, N-terminus
NM_001379619.1 → NP_001366548.1 polyamine-transporting ATPase 13A2 isoform 3

Status: VALIDATED

Source sequence(s)

AL645625

Conserved Domains (1) summary

TIGR01657
Location:35 → 1111

P-ATPase-V; P-type ATPase of unknown pump specificity (type V)
NM_001379620.1 → NP_001366549.1 polyamine-transporting ATPase 13A2 isoform 4

Status: VALIDATED

Source sequence(s)

AL645625

Conserved Domains (1) summary

TIGR01657
Location:35 → 1066

P-ATPase-V; P-type ATPase of unknown pump specificity (type V)
NM_001379621.1 → NP_001366550.1 polyamine-transporting ATPase 13A2 isoform 5

Status: VALIDATED

Source sequence(s)

AL645625

UniProtKB/TrEMBL

E9PYX5

Conserved Domains (1) summary

TIGR01657
Location:35 → 941

P-ATPase-V; P-type ATPase of unknown pump specificity (type V)
NM_001379622.1 → NP_001366551.1 polyamine-transporting ATPase 13A2 isoform 6

Status: VALIDATED

Source sequence(s)

AL645625

UniProtKB/TrEMBL

E9PYX5

Related

ENSMUSP00000126461.2, ENSMUST00000168047.8

Conserved Domains (1) summary

TIGR01657
Location:35 → 942

P-ATPase-V; P-type ATPase of unknown pump specificity (type V)
NM_029097.3 → NP_083373.2 polyamine-transporting ATPase 13A2 isoform 1

See identical proteins and their annotated locations for NP_083373.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AL645625

Consensus CDS

CCDS18859.1

UniProtKB/Swiss-Prot

A2AA78, Q8CG98, Q9CTG6

Related

ENSMUSP00000039648.8, ENSMUST00000037055.14

Conserved Domains (6) summary

COG4087
Location:839 → 888

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

TIGR01657
Location:35 → 1112

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

pfam00122
Location:258 → 493

E1-E2_ATPase; E1-E2 ATPase

pfam12409
Location:35 → 161

P5-ATPase; P5-type ATPase cation transporter

pfam13246
Location:621 → 658

Cation_ATPase; Cation transport ATPase (P-type)

cl02930
Location:188 → 260

Cation_ATPase_N; Cation transporter/ATPase, N-terminus

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_000070.7 Reference GRCm39 C57BL/6J

Range

140711812..140734641

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036164509.1 → XP_036020402.1 polyamine-transporting ATPase 13A2 isoform X3

Conserved Domains (1) summary

TIGR01657
Location:35 → 1118

P-ATPase-V; P-type ATPase of unknown pump specificity (type V)
XM_006539236.3 → XP_006539299.1 polyamine-transporting ATPase 13A2 isoform X1

Conserved Domains (1) summary

TIGR01657
Location:35 → 1195

P-ATPase-V; P-type ATPase of unknown pump specificity (type V)
XM_006539237.3 → XP_006539300.1 polyamine-transporting ATPase 13A2 isoform X2

UniProtKB/TrEMBL

E9PYX5

Conserved Domains (1) summary

TIGR01657
Location:35 → 1150

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