ATP13A5 - ATPase 13A5 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 344905

About ATP13A5

Cytogenetic location: 3q29 Genomic coordinates (GRCh38): 3:193,274,789-193,378,753 (from NCBI)

This gene has 4 transcripts (splice variants), 454 orthologues and 21 paralogues. Biased expression in salivary gland (RPKM 2.0), skin (RPKM 0.9) and 5 other tissues.

Summary

This gene encodes a member of the P5 subfamily of P-type transport ATPases. P-type ATPases form a large superfamily of cation and lipid pumps that transport inorganic cations and Other substrates across cell membranes. P5 ATPases are localized to membranes of the endoplasmic reticulum (ER) and serve many important functions including transport of cargo proteins to the Golgi, glycosylation and cell wall biosynthesis, control of protein insertion orientation, 3-hydroxy-3-methylglutaryl-CoA reductase (HMGR) degradation, and sensitivity to unfolded protein response (UPR) activators. The encoded protein is organized into three cytoplasmic domains (A, P, and N) and two membrane-embedded domains (T and S). The N-domain binds ATP and serves as a built-in protein kinase, which phosphorylates the P-domain. The A-domain is an intrinsic protein Phosphatase, which dephosphorylates the P-domain once during each catalytic cycle. [provided by RefSeq, Jul 2017]

ATP13A5 Products (1)

mRNA Protein Name
NM_198505.4 NP_940907.2 probable cation-transporting ATPase 13A5

ATP13A5 Protein Structure

P5-ATPase

P5-ATPase: P5-type ATPase cation transporter (17 - 142)

Cation_ATPase_N

Cation_ATPase_N: Cation transporter/ATPase, N-terminus (161 - 210)

E1-E2_ATPase

E1-E2_ATPase: E1-E2 ATPase (230 - 470)

HAD

HAD: haloacid dehalogenase-like hydrolase (483 - 859)

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  • 1218 a.a.
Protein Preferred Names Protein Names

probable cation-transporting ATPase 13A5

  • ATPase type 13A5

Related Diseases

Diseases Alias
Benign Chronic Pemphigus
  • Hailey-Hailey Disease

  • Pemphigus, Benign Familial

  • Familial Benign Pemphigus

  • Benign Familial Pemphigus

  • Familial Benign Chronic Pemphigus

  • BCPM

  • HHD

  • Benign Chronic Familial Pemphigus Of Hailey-Hailey

  • Pemphigus, Chronic, Benign

Dicarboxylic Aminoaciduria
  • Glutamate-Aspartate Transport Defect

  • Dicarboxylicaminoaciduria

  • DCBXA

  • Renal Aminoacidurias

Spinocerebellar Ataxia, X-Linked 1
  • X-Linked Progressive Cerebellar Ataxia

  • SCAX1

  • Opcax

  • X-Linked Spinocerebellar Ataxia 1

  • Olivopontocerebellar Atrophy, X-Linked

  • Opca, X-Linked

  • Olivopontocerebellar Atrophy X-Linked

  • Opca X-Linked

  • Ataxia, Spinocerebellar, X-Linked Type 1

Hydranencephaly
  • Hydroanencephaly

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
Macaca mulatta ATP13A5 VGNC VGNC:70160
Rattus norvegicus ATP13A5 RGD RGD:1306792
Bos taurus ATP13A5 VGNC VGNC:26281
Felis catus ATP13A5 VGNC VGNC:102603
Mus musculus ATP13A5 MGD MGI:2444068
Others ATP13A5 NCBI