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  2. ATP13A5 - ATPase 13A5 Gene

ATP13A5 - ATPase 13A5 Gene

中文名称:ATP 酶 13A5

种属: Homo sapiens

基因 ID: 344905 | 基因类型: protein coding

关于 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.

功能概要

该基因编码 P 型转运 ATP 酶 P5 亚家族的成员。 P 型 ATP 酶形成一个大的阳离子泵和脂质泵超家族,可跨细胞膜运输无机阳离子和其他底物。 P5 ATPases 位于内质网 (ER) 的膜上,具有许多重要功能,包括将货物蛋白运输到高尔基体、糖基化和细胞壁生物合成、控制蛋白质插入方向、3-羟基-3-甲基戊二酰辅酶 A 还原酶 ( HMGR) 降解,以及对未折叠蛋白反应 (UPR) 激活剂的敏感性。编码的蛋白质分为三个细胞质结构域 (A、P 和 N) 和两个膜嵌入结构域 (T 和 S) 。 N 结构域结合 ATP 并充当内置蛋白激酶,磷酸化 P 结构域。 A 结构域是一种内在蛋白磷酸酶,它在每个催化循环期间使 P 结构域去磷酸化一次。[RefSeq 提供,2017 年 7 月]

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 基因产物(1)

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

ATP13A5 蛋白结构

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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蛋白主名 其他名称

probable cation-transporting ATPase 13A5

ATPase type 13A5

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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