1. Gene
  2. TMEM30A - transmembrane protein 30A Gene

TMEM30A - transmembrane protein 30A Gene

中文名称:跨膜蛋白 30A

种属: Homo sapiens

同用名: CDC50A; C6orf67

基因 ID: 55754 | 基因类型: protein coding

关于 TMEM30A

Cytogenetic location: 6q14.1 Genomic coordinates (GRCh38): 6:75,252,924-75,284,792 (from NCBI)

This gene has 9 transcripts (splice variants), 284 orthologues and 1 paralogue. Ubiquitous expression in brain (RPKM 71.6), lung (RPKM 58.3) and 25 other tissues.

功能概要

启用氨基磷脂翻转酶活性。参与多个过程,包括磷脂转运;运输的积极监管;和外源性跨膜转运。位于内质网和质膜。磷脂转运 ATP 酶复合物的一部分。 [由基因组资源联盟提供,2022 年 4 月]

Enables aminophospholipid flippase activity. Involved in several processes, including phospholipid transport; positive regulation of transport; and xenobiotic transmembrane transport. Located in endoplasmic reticulum and plasma membrane. Part of phospholipid-translocating ATPase complex. [provided by Alliance of Genome Resources, Apr 2022]

TMEM30A 基因产物(2)

mRNA Protein Name
NM_001143958.2 NP_001137430.1 cell cycle control protein 50A isoform 2
NM_018247.4 NP_060717.1 cell cycle control protein 50A isoform 1
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 aminophospholipid flippase activity IDA
IDA: 通过直接分析推断
20510206 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
19731236 GOA
enables structural molecule activity IDA
IDA: 通过直接分析推断
32493773 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in aminophospholipid transport IDA
IDA: 通过直接分析推断
20510206 GOA
involved in phospholipid translocation IDA
IDA: 通过直接分析推断
20510206 GOA
involved in positive regulation of phospholipid translocation IDA
IDA: 通过直接分析推断
25947375 GOA
involved in positive regulation of protein exit from endoplasmic reticulum IDA
IDA: 通过直接分析推断
21914794 GOA
involved in protein localization to endosome IMP
IMP: 通过突变表型推断
21914794 GOA
involved in xenobiotic transmembrane transport IDA
IDA: 通过直接分析推断
20510206 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 late endosome membrane IDA
IDA: 通过直接分析推断
26567335 GOA
located in membrane IDA
IDA: 通过直接分析推断
25947375 GOA
located in membrane IPI
IPI: 通过物理相互作用推断
31571211 GOA
part of phospholipid-translocating ATPase complex IDA
IDA: 通过直接分析推断
25239307 GOA
part of phospholipid-translocating ATPase complex IPI
IPI: 通过物理相互作用推断
20947505 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
20510206 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

TMEM30A 蛋白结构

CDC50

CDC50: LEM3 (ligand-effect modulator 3) family / CDC50 family (69 - 353)

  • 0
  • 100
  • 200
  • 300
  • 361 a.a.
蛋白主名 其他名称

cell cycle control protein 50A

P4-ATPase flippase complex beta subunit TMEM30A

TMEM30A 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
TMEM30A Q9NV96 ATP11C Homo sapiens Q8NB49 21914794
种属内
TMEM30A Q9NV96 ATP11B Homo sapiens Q9Y2G3 21914794
种属内
TMEM30A Q9NV96 ATP11A Homo sapiens P98196 21914794
种属内
TMEM30A Q9NV96 APP Homo sapiens P05067 33961781
种属内
TMEM30A Q9NV96 ATP8B1 Homo sapiens O43520 19731236
种属内
TMEM30A Q9NV96 ATP8B1 Homo sapiens O43520 20947505
种属内
TMEM30A Q9NV96 ATP8B4 Homo sapiens Q8TF62 20947505
种属内
TMEM30A Q9NV96 ATP8B4 Homo sapiens Q8TF62 20947505
种属内
TMEM30A Q9NV96 ATP8B2 Homo sapiens P98198 20947505
种属内
TMEM30A Q9NV96 ATP8A1 Homo sapiens Q9Y2Q0 20947505
种属内
TMEM30A Q9NV96 ATP8A1 Homo sapiens Q9Y2Q0 21914794
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
Cholestasis, Benign Recurrent Intrahepatic, 1

Benign Recurrent Intrahepatic Cholestasis

BRIC1

Summerskill Syndrome

Bric

Summerskill-Walshe-Tygstrup Syndrome

Cholestasis, Benign Recurrent Intrahepatic

Benign Recurrent Intrahepatic Cholestasis 1

Benign Recurrent Intrahepatic Cholestasis Type 1

Bric Type 1

Low Gamma-Gt Familial Intrahepatic Cholestasis

Recurrent Familial Intrahepatic Cholestasis

Cholestasis, Benign Recurrent Intrahepatic 1

Mild Atp8b1 Deficiency

Recurrent Familial Intrahepatic Cholestasis 1

Abcb11-Related Intrahepatic Cholestasis

Atp8b1-Related Intrahepatic Cholestasis

Cholestasis, Intrahepatic, Recurrent, Benign, Type 1

Progressive Intrahepatic Cholestasis

Cholestasis, Progressive Familial Intrahepatic 3

Bric - [Benign Recurrent Intrahepatic Cholestasis]

Intrahepatic Cholestasis

Cholestasis, Intrahepatic

Neonatal Intrahepatic Cholestasis

Cholestasis Intrahepatic

Cholestasis Of Pregnancy

X-Linked Nephrolithiasis Type I

Nephrolithiasis 1

Nephrolithiasis X-Linked Recessive Type 1

Nphl1

X-Linked Nephrolithiasis With Renal Failure

X-Linked Recessive Urolithiasis Type 1

Xrn

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

Cholestasis, Benign Recurrent Intrahepatic, 2

BRIC2

Benign Recurrent Intrahepatic Cholestasis 2

Benign Recurrent Intrahepatic Cholestasis Type 2

Bric Type 2

Cholestasis, Intrahepatic, Recurrent, Benign, Type 2

Cholestasis, Benign Recurrent Intrahepatic 2

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]

Bilirubin Metabolic Disorder

Hyperbilirubinemia

Hereditary Hyperbilirubinemia

Hyperbilirubinemia, Hereditary

Hyperbilirubinaemia

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
Rattus norvegicus TMEM30A RGD RGD:1303315
Mus musculus TMEM30A MGD MGI:106402
Bos taurus TMEM30A VGNC VGNC:36074
Felis catus TMEM30A VGNC VGNC:66339
Macaca mulatta TMEM30A VGNC VGNC:79042
Canis familiaris TMEM30A VGNC VGNC:47570