1. Gene
  2. GNB5 - G protein subunit beta 5 Gene

GNB5 - G protein subunit beta 5 Gene

中文名称:G 蛋白亚基β5

种属: Homo sapiens

同用名: GB5; HG2E; IDDCA; LADCI; gbeta5

基因 ID: 10681 | 基因类型: protein coding

关于 GNB5

Cytogenetic location: 15q21.2 Genomic coordinates (GRCh38): 15:52,115,100-52,191,392 (from NCBI)

This gene has 12 transcripts (splice variants), 283 orthologues, 4 paralogues and is associated with 4 phenotypes. Ubiquitous expression in ovary (RPKM 9.7), kidney (RPKM 8.8) and 25 other tissues.

功能概要

异源三聚体鸟嘌呤核苷酸结合蛋白 (G 蛋白) 整合受体和效应蛋白之间的信号,由 alpha、beta 和 gamma 亚基组成。这些亚基由相关基因家族编码。该基因编码一个β亚基。 β 亚基是 α 亚基以及某些信号转导受体和效应器的重要调节剂。存在编码不同亚型的选择性剪接转录物变体。[RefSeq 提供,2008 年 7 月]

Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Jul 2008]

GNB5 基因产物(3)

mRNA Protein Name
NM_001379343.1 NP_001366272.1 guanine nucleotide-binding protein subunit beta-5 isoform c
NM_006578.4 NP_006569.1 guanine nucleotide-binding protein subunit beta-5 isoform a
NM_016194.4 NP_057278.2 guanine nucleotide-binding protein subunit beta-5 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 G-protein gamma-subunit binding IPI
IPI: 通过物理相互作用推断
12606627 GOA
contributes to GTPase activator activity IDA
IDA: 通过直接分析推断
27677260 GOA
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
12606627 GOA
enables protein-folding chaperone binding IPI
IPI: 通过物理相互作用推断
19376773 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in G protein-coupled dopamine receptor signaling pathway IDA
IDA: 通过直接分析推断
27677260 GOA
involved in negative regulation of voltage-gated calcium channel activity IDA
IDA: 通过直接分析推断
11007869 GOA
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
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

GNB5 蛋白结构

WD40

WD40: WD domain, G-beta repeat (98 - 133)

WD40

WD40: WD domain, G-beta repeat (149 - 174)

WD40

WD40: WD domain, G-beta repeat (193 - 223)

WD40

WD40: WD domain, G-beta repeat (227 - 267)

WD40

WD40: WD domain, G-beta repeat (271 - 309)

WD40

WD40: WD domain, G-beta repeat (329 - 353)

WD40

WD40: WD domain, G-beta repeat (359 - 394)

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

guanine nucleotide-binding protein subunit beta-5

G protein, beta subunit 5L

GNB5 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
GNB5 O14775 PFDN5 Homo sapiens Q99471
Lumier
25036637
种属内
GNB5 O14775 PFDN5 Homo sapiens Q99471
Anti Tag CoIP
33961781
种属内
GNB5 O14775 RGS6 Homo sapiens P49758
Anti Tag CoIP
33961781
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
Intellectual Developmental Disorder With Cardiac Arrhythmia

Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome

IDDCA

Intellectual Developmental Disorder, With Cardiac Arrhythmia

Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia

LADCI

Language Delay And Adhd/Cognitive Impairment With Or Without Cardiac Arrhythmia

Language Delay, Adhd/Cognitive Impairment With/Without Cardiac Arrhythmia

Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder

ADHD

Attention Deficit Disorder

Attention Deficit-Hyperactivity Disorder, Susceptibility To

Attention Deficit Disorder With Hyperactivity

Hyperkinetic Disorder

Hyperactivity Of Childhood

Attention-Deficit/Hyperactivity Disorder

Add

Addh

Attention Deficit

Attention Deficit Disorder Of Childhood With Hyperactivity

Attention Deficit Disorder With Hyperactivity Syndrome

Hyperkinetic Syndrome

Attention-Deficit Hyperactivity Disorder

Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type

Disturbance Of Activity And Attention

Disorder Of Activity And Attention

Adhd - [Attention Deficit Hyperactivity Disorder]

Hyperkinetic Disorders

Disorder Of Activity And Attention With Hyperkinesia

Attention Deficit Syndrome With Hyperactivity

Prolonged Electroretinal Response Suppression

Bradyopsia

PERRS

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Night Blindness, Congenital Stationary, Type 1h

Congenital Stationary Night Blindness 1h

CSNB1H

Congenital Stationary Night Blindness Type 1h

Night Blindness, Congenital Stationary, 1h

Progressive Familial Heart Block, Type Ib

Progressive Familial Heart Block Type Ib

PFHB1B

Pfhbib

Progressive Familial Heart Block Type 1b

Heart Block Progressive Familial Type 1b

Progressive Familial Heart Block 1b

Cardiac Conduction Block

Right-Bundle Branch Block

Heart Block, Familial, Progressive, Type 1b

Heart Block

Right Bundle Branch Block

Congenital Stationary Night Blindness

Night Blindness, Congenital Stationary

Congenital Essential Nyctalopia

Oguchi Disease

Blindness, Night, Stationary, Congenital

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy

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 GNB5 VGNC VGNC:80963
Rattus norvegicus GNB5 RGD RGD:620759
Mus musculus GNB5 MGD MGI:101848
Canis familiaris GNB5 VGNC VGNC:41316
Macaca mulatta GNB5 VGNC VGNC:73097
Bos taurus GNB5 VGNC VGNC:29462