ATP13A1 - ATPase 13A1 Gene

Homo sapiens

Also known as ATP13A; CGI-152

Gene ID: 57130 | Gene type: protein coding

About ATP13A1

Cytogenetic location: 19p13.11 Genomic coordinates (GRCh38): 19:19,645,198-19,663,676 (from NCBI)

This gene has 15 transcripts (splice variants), 207 orthologues and 21 paralogues. Ubiquitous expression in spleen (RPKM 18.6), testis (RPKM 14.9) and 25 other tissues.

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]

ATP13A1 Products(1)

mRNA	Protein	Name
NM_020410.3	NP_065143.2	endoplasmic reticulum transmembrane helix translocase

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables membrane protein dislocase activity	IDA IDA: Inferred from direct assay	32973005	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in extraction of mislocalized protein from ER membrane	IDA IDA: Inferred from direct assay	32973005	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ATP13A1 Protein Structure

E1-E2_ATPase

HAD

0
200
400
600
800
1000
1204 a.a.

Protein Preferred Names

Protein Names

endoplasmic reticulum transmembrane helix translocase

ATPase type 13A1

Related Diseases

Diseases

Alias

Juvenile-Onset Parkinson'S Disease

Juvenile-Onset Parkinson Disease

Kufor-Rakeb Syndrome

Park9	Krppd
KRS	Pallidopyramidal Degeneration With Supranuclear Upgaze Paresis And Dementia
Autosomal Recessive Parkinson Disease 9	Parkinson Disease 9
Parkinson Disease 9, Autosomal Recessive, Juvenile-Onset	Autosomal Recessive Juvenile Onset Parkinson Disease 9
Parkinson Disease Type 9	Pallidopyramidal Degeneration With Supranuclear Upgaze Paresis, And Dementia
Park 9	Atp13a2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Cln12 Disease	Juvenile Parkinsonism-Neuronal Ceroid Lipofuscinosis
Parkinson Disease Autosomal Recessive 9

Spastic Paraplegia 78, Autosomal Recessive

SPG78	Autosomal Recessive Spastic Paraplegia Type 78
Hereditary Spastic Paraplegia 78	Spastic Paraplegia 78 Autosomal Recessive
Doid:0112348

Dystonia 12

DYT12	Rdp
Generalized Dystonia	Dystonia-12
Rapid-Onset Dystonia-Parkinsonism	Familial Dystonia
Dystonia Musculorum Deformans	Dystonic Disorders
Idiopathic Familial Dystonia	Dystonia-Parkinsonism, Rapid-Onset
Fragments Of Torsion Dystonia	Dyt-Atp1a3
Rapid-Onset Dystonia Parkinsonism	Rodp
Dystonia, Type 12	Dystonia 3, Torsion, X-Linked
Idiopathic Non-Familial Dystonia	Symptomatic Torsion Dystonia
Dystonia Disorders

Early-Onset Parkinson'S Disease

Early-Onset Parkinson Disease

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01178	ATP13A1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	ATP13A1	VGNC	VGNC:60015
Bos taurus	ATP13A1	VGNC	VGNC:26277
Rattus norvegicus	ATP13A1	RGD	RGD:1306033
Mus musculus	ATP13A1	MGD	MGI:2180801
Canis familiaris	ATP13A1	VGNC	VGNC:38241
Macaca mulatta	ATP13A1	VGNC	VGNC:108474

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