1. Gene
  2. ATP11B - ATPase phospholipid transporting 11B (putative) Gene

ATP11B - ATPase phospholipid transporting 11B (putative) Gene

中文名称:ATPase 磷脂转运 11B (推定)

种属: Homo sapiens

同用名: ATPIF; ATPIR

基因 ID: 23200 | 基因类型: protein coding

关于 ATP11B

Cytogenetic location: 3q26.33 Genomic coordinates (GRCh38): 3:182,793,504-182,921,629 (from NCBI)

This gene has 10 transcripts (splice variants), 225 orthologues and 13 paralogues. Ubiquitous expression in esophagus (RPKM 12.0), bone marrow (RPKM 11.3) and 25 other tissues.

功能概要

型 ATP 酶,如 ATP11B,在其中间状态被磷酸化并驱动离子跨膜上坡运输。已经确定了 P 型 ATP 酶的几个亚家族。一个亚家族运输重金属离子,例如 Cu (2+) 或 Cd (2+) 。另一个亚家族运输非重金属离子,例如 H (+) 、Na (+) 、K (+) 或 CA (+) 。第三个亚家族转运两亲生物,例如磷脂酰丝氨酸。[OMIM 提供,2005 年 2 月]

P-type ATPases, such as ATP11B, are phosphorylated in their intermediate state and drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily transports heavy metal ions, such as Cu(2+) or Cd(2+). Another subfamily transports non-heavy metal ions, such as H(+), Na(+), K(+), or CA(+). A third subfamily transports amphipaths, such as phosphatidylserine.[supplied by OMIM, Feb 2005]

ATP11B 基因产物(1)

mRNA Protein Name
NM_014616.3 NP_055431.1 phospholipid-transporting ATPase IF
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 protein binding IPI
IPI: 通过物理相互作用推断
21914794 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
31571211 GOA
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
21914794 GOA
located in membrane IPI
IPI: 通过物理相互作用推断
31571211 GOA
part of phospholipid-translocating ATPase complex IPI
IPI: 通过物理相互作用推断
31571211 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

ATP11B 蛋白结构

E1-E2_ATPase

E1-E2_ATPase: E1-E2 ATPase (94 - 368)

Hydrolase

Hydrolase: haloacid dehalogenase-like hydrolase (404 - 832)

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  • 1177 a.a.
蛋白主名 其他名称

phospholipid-transporting ATPase IF

ATPase IR

ATP11B 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
ATP11B Q9Y2G3 IFNA21 Homo sapiens P01568 33961781
种属内
ATP11B Q9Y2G3 IFNA21 Homo sapiens P01568 28514442
种属内
ATP11B Q9Y2G3 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
Hypoparathyroidism, X-Linked

HYPX

X-Linked Hypoparathyroidism

Parathyroid Glands, Agenesis Of

Agenesis Of Parathyroid Glands

Hypoparathyroidism X-Linked

Hypoparathyroidism - X-Linked

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

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 ATP11B VGNC VGNC:102600
Macaca mulatta ATP11B VGNC VGNC:84236
Rattus norvegicus ATP11B RGD RGD:1561719
Mus musculus ATP11B MGD MGI:1923545
Bos taurus ATP11B VGNC VGNC:54671