1. Gene
  2. ATP13A5 - ATPase 13A5 Gene

ATP13A5 - ATPase 13A5 Gene

Homo sapiens
Gene ID: 344905 | Gene type: protein coding

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