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  2. ATP13A1 - ATPase 13A1 Gene

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

ATP13A1 Protein Structure

E1-E2_ATPase

E1-E2_ATPase: E1-E2 ATPase (280 - 510)

HAD

HAD: haloacid dehalogenase-like hydrolase (530 - 873)

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  • 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

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