1. Gene
  2. RGS6 - regulator of G protein signaling 6 Gene

RGS6 - regulator of G protein signaling 6 Gene

中文名称:G 蛋白信号调节器 6

种属: Homo sapiens

同用名: GAP; S914; HA117

基因 ID: 9628 | 基因类型: protein coding

关于 RGS6

Cytogenetic location: 14q24.2 Genomic coordinates (GRCh38): 14:71,867,335-72,630,029 (from NCBI)

This gene has 20 transcripts (splice variants), 265 orthologues and 23 paralogues. Low expression observed in reference dataset.

功能概要

该基因编码 RGS (G 蛋白信号转导调节因子) 蛋白家族的成员,该蛋白家族由 RGS 结构域的存在定义,该结构域赋予这些蛋白质对某些 G α 亚基的 GTP 酶激活活性。该蛋白还属于 RGS 蛋白的一个亚家族,其特征在于存在 DEP 和 GGL 结构域,后者是 G beta 5 相互作用结构域。 RGS 蛋白负向调节 G 蛋白信号,并可能调节神经元、心血管、淋巴细胞活动和癌症风险。许多选择性剪接的转录变体编码具有长或短的 N 末端结构域、完整或不完整的 GGL 结构域以及不同的 C 末端结构域的不同同种型,已经对该基因进行了描述,然而,其中一些变体的全长性质是未知。[RefSeq 提供,2011 年 3 月]

This gene encodes a member of the RGS (regulator of G protein signaling) family of proteins, which are defined by the presence of a RGS domain that confers the GTPase-activating activity of these proteins toward certain G alpha subunits. This protein also belongs to a subfamily of RGS proteins characterized by the presence of DEP and GGL domains, the latter a G beta 5-interacting domain. The RGS proteins negatively regulate G protein signaling, and may modulate neuronal, cardiovascular, lymphocytic activities, and Cancer risk. Many alternatively spliced transcript variants encoding different isoforms with long or short N-terminal domains, complete or incomplete GGL domains, and distinct C-terminal domains, have been described for this gene, however, the full-length nature of some of these variants is not known.[provided by RefSeq, Mar 2011]

RGS6 基因产物(34)

mRNA Protein Name
NM_001204416.3 NP_001191345.1 regulator of G-protein signaling 6 isoform 1
NM_001204417.3 NP_001191346.1 regulator of G-protein signaling 6 isoform 3
NM_001204418.3 NP_001191347.1 regulator of G-protein signaling 6 isoform 4
NM_001204419.3 NP_001191348.1 regulator of G-protein signaling 6 isoform 5
NM_001204420.3 NP_001191349.1 regulator of G-protein signaling 6 isoform 6
NM_001204421.3 NP_001191350.1 regulator of G-protein signaling 6 isoform 7
NM_001204422.3 NP_001191351.1 regulator of G-protein signaling 6 isoform 8
NM_001204423.2 NP_001191352.1 regulator of G-protein signaling 6 isoform 9
NM_001204424.2 NP_001191353.1 regulator of G-protein signaling 6 isoform 1
NM_001370270.1 NP_001357199.1 regulator of G-protein signaling 6 isoform 10
NM_001370271.1 NP_001357200.1 regulator of G-protein signaling 6 isoform 10
NM_001370272.1 NP_001357201.1 regulator of G-protein signaling 6 isoform 10
NM_001370273.1 NP_001357202.1 regulator of G-protein signaling 6 isoform 10
NM_001370274.1 NP_001357203.1 regulator of G-protein signaling 6 isoform 10
NM_001370275.1 NP_001357204.1 regulator of G-protein signaling 6 isoform 11
NM_001370276.1 NP_001357205.1 regulator of G-protein signaling 6 isoform 11
NM_001370277.1 NP_001357206.1 regulator of G-protein signaling 6 isoform 12
NM_001370278.1 NP_001357207.1 regulator of G-protein signaling 6 isoform 13
NM_001370279.1 NP_001357208.1 regulator of G-protein signaling 6 isoform 14
NM_001370280.1 NP_001357209.1 regulator of G-protein signaling 6 isoform 15
NM_001370281.1 NP_001357210.1 regulator of G-protein signaling 6 isoform 16
NM_001370282.1 NP_001357211.1 regulator of G-protein signaling 6 isoform 17
NM_001370283.1 NP_001357212.1 regulator of G-protein signaling 6 isoform 18
NM_001370284.1 NP_001357213.1 regulator of G-protein signaling 6 isoform 1
NM_001370286.1 NP_001357215.1 regulator of G-protein signaling 6 isoform 19
NM_001370287.1 NP_001357216.1 regulator of G-protein signaling 6 isoform 2
NM_001370288.1 NP_001357217.1 regulator of G-protein signaling 6 isoform 2
NM_001370289.1 NP_001357218.1 regulator of G-protein signaling 6 isoform 2
NM_001370290.1 NP_001357219.1 regulator of G-protein signaling 6 isoform 20
NM_001370291.1 NP_001357220.1 regulator of G-protein signaling 6 isoform 20
NM_001370292.1 NP_001357221.1 regulator of G-protein signaling 6 isoform 6
NM_001370293.1 NP_001357222.1 regulator of G-protein signaling 6 isoform 6
NM_001370294.1 NP_001357223.1 regulator of G-protein signaling 6 isoform 21
NM_004296.7 NP_004287.3 regulator of G-protein signaling 6 isoform 2
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 GTPase activator activity IDA
IDA: 通过直接分析推断
10521509 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
22939624 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of GTPase activity IDA
IDA: 通过直接分析推断
10521509 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytosol IDA
IDA: 通过直接分析推断
10521509 GOA
located in membrane IDA
IDA: 通过直接分析推断
10521509 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

RGS6 蛋白结构

DEP

DEP: Domain found in Dishevelled, Egl-10, and Pleckstrin (DEP) (43 - 113)

G-gamma

G-gamma: GGL domain (256 - 318)

RGS

RGS: Regulator of G protein signaling domain (336 - 450)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 472 a.a.
蛋白主名 其他名称

regulator of G-protein signaling 6

regulator of G-protein signalling 6

RGS6 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
RGS6 P49758 HSP90AB1 Homo sapiens P08238
Lumier
22939624
种属内
RGS6 P49758 GNB5 Homo sapiens O14775
Anti Tag CoIP
33961781
种属间: 跨种属相互作用 种属内: 同种属相互作用

RGS6 抗体

目录号 产品名 应用 反应物种
HY-P83466 RGS6 Antibody (YA3211) WB Human

关联疾病

疾病名称 别名
Hirschsprung Disease 1

Hirschsprung Disease

Aganglionic Megacolon

Hscr

Hirschsprung'S Disease

Congenital Megacolon

Congenital Intestinal Aganglionosis

Colonic Aganglionosis

Hirschsprung Disease, Susceptibility To, 1

Hirschsprung Disease, Protection Against

HSCR1

Mgc

Pelvirectal Achalasia

Total Intestinal Aganglionosis

Megacolon, Aganglionic

Macrocolon

Hscr 1

Hirschsprung Disease Type 1

Hirschsprung Disease, Type 1

Congenital Dilatation Of Colon

Aganglionosis

Congenital Aganglionic Megacolon

Aganglionosis Of Colon

Bowel Aganglionosis

Colon Aganglionosis

Hirschsprung Megacolon

Night Blindness, Congenital Stationary, Type 1h

Congenital Stationary Night Blindness 1h

CSNB1H

Congenital Stationary Night Blindness Type 1h

Night Blindness, Congenital Stationary, 1h

Neuronitis
Prolonged Electroretinal Response Suppression

Bradyopsia

PERRS

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Tetralogy Of Fallot

TOF

Fallot Tetralogy

Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle

Tetrad Of Fallot

Fallot Tetrad

Fallot Disease

Fallot Complex

Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy

Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle

Interventricular Septal Defect, In Tetralogy Of Fallot

Ventricular Septal Defect With Obstructed Right Ventricular Outflow

Tof - [Tetralogy Of Fallot]

Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]

Pulmonary Atresia, Ventricular Septal Defect And Mapcas

Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]

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 RGS6 VGNC VGNC:64597
Bos taurus RGS6 VGNC VGNC:54476
Macaca mulatta RGS6 VGNC VGNC:76691
Rattus norvegicus RGS6 RGD RGD:3569
Canis familiaris RGS6 VGNC VGNC:45535
Mus musculus RGS6 MGD MGI:1354730