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  2. ATP13A3 - ATPase 13A3 Gene

ATP13A3 - ATPase 13A3 Gene

中文名称:ATP 酶 13A3

种属: Homo sapiens

同用名: PPH5; AFURS1

基因 ID: 79572 | 基因类型: protein coding

关于 ATP13A3

Cytogenetic location: 3q29 Genomic coordinates (GRCh38): 3:194,402,677-194,494,334 (from NCBI)

This gene has 15 transcripts (splice variants), 285 orthologues and 21 paralogues. Ubiquitous expression in thyroid (RPKM 24.7), appendix (RPKM 18.3) and 25 other tissues.

功能概要

ATP13A3 是 P 型 ATPase 蛋白家族的成员,可跨膜转运多种阳离子。其他 P 型 ATP 酶包括 ATP7B (MIM 606882) 和 ATP7A (MIM 300011) 。[OMIM 提供,2008 年 8 月]

ATP13A3 is a member of the P-type ATPase family of proteins that transport a variety of cations across membranes. Other P-type ATPases include ATP7B (MIM 606882) and ATP7A (MIM 300011).[supplied by OMIM, Aug 2008]

ATP13A3 基因产物(3)

mRNA Protein Name
NM_001367549.1 NP_001354478.1 polyamine-transporting ATPase 13A3 isoform 2
NM_001374836.1 NP_001361765.1 polyamine-transporting ATPase 13A3 isoform 3
NM_024524.4 NP_078800.3 polyamine-transporting ATPase 13A3 isoform 1
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables P-type transmembrane transporter activity IDA
IDA: 通过直接分析推断
33310703 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in early endosome membrane IDA
IDA: 通过直接分析推断
29505581 GOA
located in late endosome membrane IDA
IDA: 通过直接分析推断
29505581 GOA
located in recycling endosome membrane IDA
IDA: 通过直接分析推断
29505581 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

ATP13A3 蛋白结构

P5-ATPase

P5-ATPase: P5-type ATPase cation transporter (13 - 142)

Cation_ATPase_N

Cation_ATPase_N: Cation transporter/ATPase, N-terminus (175 - 226)

E1-E2_ATPase

E1-E2_ATPase: E1-E2 ATPase (238 - 482)

HAD

HAD: haloacid dehalogenase-like hydrolase (495 - 892)

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  • 1226 a.a.
蛋白主名 其他名称

polyamine-transporting ATPase 13A3

ATPase family homolog up-regulated in senescence cells 1

关联疾病

疾病名称 别名
Pulmonary Hypertension, Primary, 5

Pulmonary Hypertension, Primary, 5, Autosomal Recessive

PPH5

Hypertension, Pulmonary, Primary, Type 5

Pulmonary Hypertension, Primary, 1

Pulmonary Arterial Hypertension

Pah

Idiopathic Pulmonary Arterial Hypertension

Idiopathic Pulmonary Hypertension

Primary Pulmonary Hypertension

PPH1

Pulmonary Hypertension, Primary, Fenfluramine Or Dexfenfluramine-Associated

Pulmonary Hypertension, Familial Primary, 1, With Or Without Hht

Pph

Familial Primary Pulmonary Hypertension

Sporadic Primary Pulmonary Hypertension

Pht

Fpah

Familial Pulmonary Arterial Hypertension

Hereditary Pulmonary Arterial Hypertension

Heritable Pulmonary Arterial Hypertension

Ayerza Syndrome

Fpph

Ppht

Ipah

Primary Pulmonary Arterial Hypertension

Pulmonary Hypertension, Familial Primary

Hypertension, Pulmonary, Primary, Type 1

Ayerza'S Syndrome

Pah - [Pulmonary Arterial Hypertension]

Arrillaga Ayerza Syndrome

Pulmonary Venoocclusive Disease

Pulmonary Veno-Occlusive Disease

Obstructive Disease Of The Pulmonary Veins

Pvod

Isolated Pulmonary Venous Sclerosis

Venous Form Of Primary Pulmonary Hypertension

Pulmonary Venoocclusive Disease 1, Autosomal Dominant

Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension

Small Patella Syndrome

Ischiopatellar Dysplasia

Coxopodopatellar Syndrome

Scott-Taor Syndrome

Sps

Ischiocoxopodopatellar Syndrome

Patella Aplasia, Coxa Vara, And Tarsal Synostosis

ICPPS

Congenital Coxa Vara, Patella Aplasia And Tarsal Synostosis

Coxo-Podo-Patellar Syndrome

Patella Aplasia, Coxa Vara, Tarsal Synostosis

Coxopodipatellar Syndrome

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
Canis familiaris ATP13A3 VGNC VGNC:38243
Rattus norvegicus ATP13A3 RGD RGD:1590881
Felis catus ATP13A3 VGNC VGNC:60017
Mus musculus ATP13A3 MGD MGI:2685387
Macaca mulatta ATP13A3 VGNC VGNC:70117
Bos taurus ATP13A3 VGNC VGNC:26279