1. Gene
  2. ATP13A1 - ATPase 13A1 Gene

ATP13A1 - ATPase 13A1 Gene

中文名称:ATP 酶 13A1

种属: Homo sapiens

同用名: ATP13A; CGI-152

基因 ID: 57130 | 基因类型: protein coding

关于 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.

功能概要

启用跨膜蛋白脱位酶活性。参与从 ER 膜中提取错误定位的蛋白质。位于膜内。 [由基因组资源联盟提供,2022 年 4 月]

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 基因产物(1)

mRNA Protein Name
NM_020410.3 NP_065143.2 endoplasmic reticulum transmembrane helix translocase
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables membrane protein dislocase activity IDA
IDA: 通过直接分析推断
32973005 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in extraction of mislocalized protein from ER membrane IDA
IDA: 通过直接分析推断
32973005 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

ATP13A1 蛋白结构

E1-E2_ATPase

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

HAD

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

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  • 1204 a.a.
蛋白主名 其他名称

endoplasmic reticulum transmembrane helix translocase

ATPase type 13A1

ATP13A1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
ATP13A1 Q9HD20 ZYG11B Homo sapiens Q9C0D3
Anti Tag CoIP
33961781
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

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
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