1. Gene
  2. RHAG - Rh associated glycoprotein Gene

RHAG - Rh associated glycoprotein Gene

中文名称:Rh 相关糖蛋白

种属: Homo sapiens

同用名: OHS; RH2; OHST; RHNR; Rh50; CD241; RH50A; Rh50GP; SLC42A1

基因 ID: 6005 | 基因类型: protein coding

关于 RHAG

Cytogenetic location: 6p12.3 Genomic coordinates (GRCh38): 6:49,605,175-49,636,839 (from NCBI)

This gene has 6 transcripts (splice variants), 213 orthologues, 4 paralogues and is associated with 4 phenotypes. Restricted expression toward bone marrow (RPKM 40.5).

功能概要

由该基因编码的蛋白质是红细胞特异性的,被认为是跨血细胞膜运输铵和二氧化碳的膜通道的一部分。编码的蛋白质似乎与 Rh 血型抗原和 Rh30 多肽相互作用。该基因的缺陷是调节型 Rh-null 溶血性贫血 (RHN) 或 Rh-缺陷综合征的原因。[RefSeq 提供,2009 年 3 月]

The protein encoded by this gene is erythrocyte-specific and is thought to be part of a membrane channel that transports ammonium and carbon dioxide across the blood cell membrane. The encoded protein appears to interact with Rh blood group antigens and Rh30 polypeptides. Defects in this gene are a cause of regulator type Rh-null hemolytic anemia (RHN), or Rh-deficiency syndrome.[provided by RefSeq, Mar 2009]

RHAG 基因产物(1)

mRNA Protein Name
NM_000324.3 NP_000315.2 ammonium transporter Rh type A
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 ammonium channel activity IDA
IDA: 通过直接分析推断
15856280 GOA
enables ammonium channel activity IGI
IGI: 通过遗传相互作用推断
11062476 GOA
enables ankyrin binding IPI
IPI: 通过物理相互作用推断
12719424 GOA
enables carbon dioxide transmembrane transporter activity IDA
IDA: 通过直接分析推断
19273840 GOA
enables leak channel activity IDA
IDA: 通过直接分析推断
18931342 GOA
enables methylammonium transmembrane transporter activity IDA
IDA: 通过直接分析推断
15856280 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 ammonium transmembrane transport IDA
IDA: 通过直接分析推断
11861637 GOA
involved in ammonium transmembrane transport IGI
IGI: 通过遗传相互作用推断
11062476 GOA
involved in ammonium transmembrane transport IMP
IMP: 通过突变表型推断
22012326 GOA
involved in carbon dioxide transmembrane transport IDA
IDA: 通过直接分析推断
19273840 GOA
involved in carbon dioxide transport IDA
IDA: 通过直接分析推断
16574458 GOA
involved in inorganic cation transmembrane transport IDA
IDA: 通过直接分析推断
18931342 GOA
involved in intracellular monoatomic ion homeostasis IDA
IDA: 通过直接分析推断
15856280 GOA
involved in methylammonium transmembrane transport IDA
IDA: 通过直接分析推断
15856280 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of ankyrin-1 complex IDA
IDA: 通过直接分析推断
35835865 GOA
located in membrane IDA
IDA: 通过直接分析推断
22012326 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
15929723 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

RHAG 蛋白结构

Ammonium_transp

Ammonium_transp: Ammonium Transporter Family (15 - 402)

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

ammonium transporter Rh type A

Rh 50 glycoprotein

RHAG 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
RHAG Q02094 UNC93A Homo sapiens Q86WB7-2 32296183
种属内
RHAG Q02094 UNC93A Homo sapiens Q86WB7-2 32296183
种属内
RHAG Q02094 UNC93A Homo sapiens Q86WB7-2 32296183
种属内
RHAG Q02094 FAM209A Homo sapiens Q5JX71 32296183
种属内
RHAG Q02094 FAM209A Homo sapiens Q5JX71 32296183
种属内
RHAG Q02094 FAM209A Homo sapiens Q5JX71 32296183
种属内
RHAG Q02094 TEX29 Homo sapiens Q8N6K0 32296183
种属内
RHAG Q02094 TEX29 Homo sapiens Q8N6K0 32296183
种属内
RHAG Q02094 TEX29 Homo sapiens Q8N6K0 32296183
种属内
RHAG Q02094 ERGIC3 Homo sapiens Q9Y282 32296183
种属内
RHAG Q02094 ERGIC3 Homo sapiens Q9Y282 32296183
种属内
RHAG Q02094 ERGIC3 Homo sapiens Q9Y282 32296183
种属内
RHAG Q02094 CREB3L3 Homo sapiens Q68CJ9 32296183
种属内
RHAG Q02094 CREB3L3 Homo sapiens Q68CJ9 32296183
种属内
RHAG Q02094 CREB3L3 Homo sapiens Q68CJ9 32296183
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
Overhydrated Hereditary Stomatocytosis

Ohs

Potassium Sodium Disorder Of Erythrocyte

OHST

Stomatocytosis I

Potassium-Sodium Disorder Of Erythrocyte

Stomatocytosisiohst

Hereditary, Overhydrated, Cation-Leak Stomatocytosis

Overhydrated Cation Leak Stomatocytosis

Stomatocytosis, Overhydrated Hereditary

Rh-Null, Regulator Type

Anemia, Hemolytic, Rh-Null, Regulator Type

RHNR

Rh-Null Hemolytic Anemia, Regulator Type

Rh-Null Disease, Regulator Type

Regulator Type Rh-Null Hemolytic Anemia

RHN

Rh-Deficiency Syndrome

Rh Deficiency Syndrome

Hemolytic Disease Of Fetus And Newborn, Rh-Induced

Rh Deficiency Syndrome

Rh Disease

HDFNRH

Rh Fetomaternal Incompatibility

Rh-Null Syndrome

Hemolytic Anemia

Anemia, Hemolytic

Anemia Hemolytic

Anaemia Due To Other Disorders Of Glutathione Metabolism

Chronic Non Spherocytic Anaemia

G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia

Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency

Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia

Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia

Favism Anaemia

Haemolytic Anaemia Due Tog6pd Deficiency

Favism

Pentose Phosphate Pathway Disorder Anaemia

Anaemia Due To Pentose Phosphate Pathway Defect

Hereditary Stomatocytosis

Hereditary Stomatocytic Disease

Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema

Dehydrated Hereditary Stomatocytosis

Hereditary Xerocytosis

Xerocytosis, Hereditary

Pshk1

Pseudohyperkalemia Edinburgh

Dehydrated Hereditary Stomatocytosis With Or Without Pseudohyperkalemia And/Or Perinatal Edema

DHS1

Dhs

Hereditary Desiccytosis

Dehydrated Hereditary Stomatocytosis 1

Desiccytosis, Hereditary

Pseudohyperkalemia, Familial, 1, Due To Red Cell Leak

Pseudohyperkalemia Familial 1, Due To Red Cell Leak

Desiccytosis Hereditary

Xerocytosis Hereditary

Familial Pseudohyperkalemia 1 Due To Red Cell Leak

Stomatocytosis, Dehydrated, Hereditary, With/Without Pseudohyperkalemia And/Or Perinatal Edema

Xerocytosis

Spastic Paraplegia 27, Autosomal Recessive

SPG27

Hereditary Spastic Paraplegia 27

Autosomal Recessive Spastic Paraplegia Type 27

Autosomal Recessive Spastic Paraplegia 27

Spastic Paraplegia-27, Autosomal Recessive

Colorblindness, Partial, Protan Series

Protanopia

Red Color Blindness

Protan Defect

CBP

Red Colorblindness

Colorblindness, Protan

Color Blindness, Red

Hereditary Elliptocytosis

Congenital Elliptocytosis

Ovalocytosis

Elliptocytosis, Hereditary

He

Elliptocytosis Hereditary

Congenital Ovalocytosis

Elliptocytosis

Hereditary Elliptocytosis With Infantile Poikilocytosis

Hereditary Ovalocytosis

Oval Erythrocytosis

He - [Hereditary Elliptocytosis]

Elliptocytosis Anaemia

Hereditary Spherocytosis

Congenital Spherocytic Hemolytic Anemia

Spherocytic Anemia

Congenital Spherocytosis

Spherocytosis, Type 1

Minkowski Chauffard Syndrome

Hs

Minkowski-Chauffard Disease

Minkowski-Chauffard Syndrome

Spherocytosis Hereditary

Spherocytosis, Hereditary

Anemia, Hereditary Spherocytic Hemolytic

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
Macaca mulatta RHAG VGNC VGNC:76693
Canis familiaris RHAG VGNC VGNC:45542
Rattus norvegicus RHAG RGD RGD:61871
Mus musculus RHAG MGD MGI:1202713
Felis catus RHAG VGNC VGNC:64601
Bos taurus RHAG VGNC VGNC:33929