ATP13A5 - ATPase 13A5 Gene
Species: Homo sapiens
About ATP13A5
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-type ATPase cation transporter (17 - 142)
Cation_ATPase_N: Cation transporter/ATPase, N-terminus (161 - 210)
E1-E2_ATPase: E1-E2 ATPase (230 - 470)
HAD: haloacid dehalogenase-like hydrolase (483 - 859)
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- 1218 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
probable cation-transporting ATPase 13A5 |
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Related Diseases
| Diseases | Alias | |
|---|---|---|
| Benign Chronic Pemphigus |
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| Dicarboxylic Aminoaciduria |
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| Spinocerebellar Ataxia, X-Linked 1 |
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| Hydranencephaly |
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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 |