ATP13A1 - ATPase 13A1 Gene

Also Known as ATP13A; CGI-152

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 57130

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 References 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 References 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

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

HAD

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

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1204 a.a.
Protein Preferred Names Protein Names

endoplasmic reticulum transmembrane helix translocase

  • ATPase type 13A1

ATP13A1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
ATP13A1 Q9HD20 ZYG11B Homo sapiens Q9C0D3
Anti Tag CoIP
33961781
Cross: Cross-species interaction Intra: Intraspecies interaction

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

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 Set / 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
Others ATP13A1 NCBI