1. Gene
  2. ATP11A - ATPase phospholipid transporting 11A Gene

ATP11A - ATPase phospholipid transporting 11A Gene

中文名称:ATP 酶磷脂转运 11A

种属: Homo sapiens

同用名: ATPIH; ATPIS; HLD24; DFNA84

基因 ID: 23250 | 基因类型: protein coding

关于 ATP11A

Cytogenetic location: 13q34 Genomic coordinates (GRCh38): 13:112,690,038-112,887,168 (from NCBI)

This gene has 17 transcripts (splice variants), 267 orthologues, 13 paralogues and is associated with 3 phenotypes. Broad expression in lung (RPKM 20.5), gall bladder (RPKM 8.1) and 25 other tissues.

功能概要

该基因编码的蛋白质是一种完整的膜 ATP 酶。编码的蛋白质可能在其中间状态被磷酸化,并可能驱动钙离子等离子跨膜运输。[RefSeq 提供,2022 年 4 月]

The protein encoded by this gene is an integral membrane ATPase. The encoded protein is probably phosphorylated in its intermediate state and likely drives the transport of ions such as calcium across membranes. [provided by RefSeq, Apr 2022]

ATP11A 基因产物(5)

mRNA Protein Name
NM_001405661.1 NP_001392590.1 phospholipid-transporting ATPase IH isoform c
NM_001405662.1 NP_001392591.1 phospholipid-transporting ATPase IH isoform d
NM_001405663.1 NP_001392592.1 phospholipid-transporting ATPase IH isoform e
NM_015205.3 NP_056020.2 phospholipid-transporting ATPase IH isoform a
NM_032189.4 NP_115565.3 phospholipid-transporting ATPase IH isoform b
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables phosphatidylethanolamine flippase activity IDA
IDA: 通过直接分析推断
25315773 GOA
enables phosphatidylethanolamine flippase activity IMP
IMP: 通过突变表型推断
36300302 GOA
enables phosphatidylserine flippase activity IDA
IDA: 通过直接分析推断
25315773 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21914794 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of myotube differentiation IMP
IMP: 通过突变表型推断
29799007 GOA
involved in regulation of membrane lipid distribution IMP
IMP: 通过突变表型推断
34403372 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
21914794 GOA
part of phospholipid-translocating ATPase complex IDA
IDA: 通过直接分析推断
25947375 GOA
part of phospholipid-translocating ATPase complex IPI
IPI: 通过物理相互作用推断
25947375 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
25315773 GOA
located in plasma membrane IMP
IMP: 通过突变表型推断
36300302 GOA
located in recycling endosome IDA
IDA: 通过直接分析推断
21914794 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

ATP11A 蛋白结构

E1-E2_ATPase

E1-E2_ATPase: E1-E2 ATPase (100 - 377)

HAD

HAD: haloacid dehalogenase-like hydrolase (411 - 833)

  • 0
  • 200
  • 400
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  • 1000
  • 1134 a.a.
蛋白主名 其他名称

phospholipid-transporting ATPase IH

ATPase, class VI, type 11A

ATP11A 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
ATP11A P98196 TMEM30A Homo sapiens Q9NV96 33961781
种属内
ATP11A P98196 TMEM30A Homo sapiens Q9NV96 25947375
种属内
ATP11A P98196 TMEM30A Homo sapiens Q9NV96 25947375
种属内
ATP11A P98196 TMEM30A Homo sapiens Q9NV96 31571211
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
Leukodystrophy, Hypomyelinating, 24

HLD24

Deafness, Autosomal Dominant 84

DFNA84

Deafness, Autosomal Dominant, 84

Deafness, Autosomal Dominant 33

DFNA33

Autosomal Dominant Nonsyndromic Deafness 33

Autosomal Dominant Deafness 33

Interstitial Lung Disease 2

Idiopathic Pulmonary Fibrosis

Ipf

Fibrocystic Pulmonary Dysplasia

Pulmonary Fibrosis, Idiopathic

Pulmonary Fibrosis, Idiopathic, Susceptibility To

Cryptogenic Fibrosing Alveolitis

ILD2

Idiopathic Pulmonary Fibrosis, Familial

Fibrosing Alveolitis, Cryptogenic

Uip

Fibrosing Alveolitis

Interstitial Pneumonitis, Usual

Familial Idiopathic Pulmonary Fibrosis

Idiopathic Fibrosing Alveolitis, Chronic Form

Usual Interstitial Pneumonia

Fibrosing Alveolitis Cryptogenic

Hamman-Rich Disease

Idiopathic Pulmonary Fibrosis Familial

Interstitial Pneumonitis Usual

Fibrosis Idiopathic Pulmonary

Fibrosis, Pulmonary, Idiopathic

Hamman-Rich Syndrome

Chronic Idiopathic Pulmonary Fibrosis

Acute Interstitial Pneumonia

Interstitial Pulmonary Fibrosis

Ipf - [Idiopathic Pulmonary Fibrosis]

Idiopathic Lung Fibrosis

Fibrosing Lung Disease

Pulmonary Fibrosis Nos

Fibrosing Pneumonitis

Hypoparathyroidism, X-Linked

HYPX

X-Linked Hypoparathyroidism

Parathyroid Glands, Agenesis Of

Agenesis Of Parathyroid Glands

Hypoparathyroidism X-Linked

Hypoparathyroidism - X-Linked

Diffuse Pulmonary Fibrosis
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1

Dysequilibrium Syndrome

CAMRQ1

Des

Cerebellar Ataxia, Intellectual Disability, And Dysequilibrium Syndrome 1

Cerebellar Hypoplasia, Vldlr-Associated

Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion 1

Cerebellar Ataxia, Mental Retardation And Dysequlibrium Syndrome

Uner Tan Syndrome

Vldlr Cerebellar Hypoplasia

Vldlrch

Vldlr-Associated Cerebellar Hypoplasia

Cerebellar Ataxia And Mental Retardation With Or Without Quadrupedal Locomotion 1

Cerebellar Ataxia, Congenital, And Mental Retardation, Autosomal Recessive

Camrq

Cerebellar Ataxia, Mental Retardation, Dysequilibrium Syndrome 1

Cerebellar Disorder, Nonprogressive, With Intellectual Disability

Cerebellar Hypoplasia, Vldlr Associated

Autosomal Recessive Cerebellar Ataxia With Mental Retardation

Autosomal Recessive Cerebellar Hypoplasia With Cerebral Gyral Simplification

Cerebellar Disorder, Nonprogressive, With Mental Retardation

Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion

Chmrq1

Des-Vldlr

Dysequilibrium Syndrome-Vldlr

Vldlr-Ch

Camrq Syndrome

Cerebellar Ataxia-Intellectual Disability-Dysequilibrium Syndrome Syndrome

Non-Progressive Cerebellar Ataxia-Intellectual Disability Syndrome

Uts

Cerebellar Hypoplasia Vldlr-Associated

Dialysis Disequilibrium Syndrome

Cholestasis, Progressive Familial Intrahepatic, 1

PFIC1

Byler Disease

Cholestasis, Progressive Familial Intrahepatic 1

Progressive Familial Intrahepatic Cholestasis 1

Progressive Familial Intrahepatic Cholestasis Type 1

Fic1 Deficiency

Byler'S Disease

Cholestasis, Fatal Intrahepatic

Progressive Familial Intrahepatic Cholestasis

Severe Atp8b1 Deficiency

Fatal Intrahepatic Cholestasis

Cholestasis, Intrahepatic, Familial, Progressive, Type 1

Progressive Intrahepatic Cholestasis

Cholestasis, Progressive Familial Intrahepatic 3

Idiopathic Interstitial Pneumonia

Hamman-Rich Syndrome

Diffuse Idiopathic Pulmonary Fibrosis

Idiopathic Fibrosing Alveolitis

Ipf

Idiopathic Interstitial Pneumonias

Idiopathic Interstitial Pneumonia, Not Otherwise Specified

Pulmonary Fibrosis

Progressive Familial Intrahepatic Cholestasis

Abcb4-Related Intrahepatic Cholestasis

Cholestasis, Progressive Familial Intrahepatic

Pfic

Byler Disease

Abcb11-Related Intrahepatic Cholestasis

Atp8b1-Related Intrahepatic Cholestasis

Bsep Deficiency

Byler Disease

Byler Syndrome

Fic1 Deficiency

Low Γ-Gt Familial Intrahepatic Cholestasis

Mdr3 Deficiency

Pfic

Cholestasis, Intrahepatic, Familial, Progressive

Pfic - [Progressive Familial Intrahepatic Cholestasis]

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
Bos taurus ATP11A VGNC VGNC:26274
Mus musculus ATP11A MGD MGI:1354735
Macaca mulatta ATP11A VGNC VGNC:70064
Felis catus ATP11A VGNC VGNC:60012
Canis familiaris ATP11A VGNC VGNC:38238
Rattus norvegicus ATP11A RGD RGD:1308688