GNB1 - G protein subunit beta 1 Gene

中文名称：G 蛋白亚基β1

种属: Homo sapiens

同用名: MDS; HG2A; MRD42

基因 ID: 2782 | 基因类型: protein coding

关于 GNB1

Cytogenetic location: 1p36.33 Genomic coordinates (GRCh38): 1:1,785,286-1,891,087 (from NCBI)

This gene has 31 transcripts (splice variants), 226 orthologues, 4 paralogues and is associated with 5 phenotypes. Ubiquitous expression in brain (RPKM 145.4), small intestine (RPKM 87.2) 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。可变剪接导致多个转录本变体。[RefSeq 提供，2013 年 9 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

GNB1 基因产物(3)

mRNA	Protein	Name
NM_001282538.2	NP_001269467.1	guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1 isoform 2
NM_001282539.2	NP_001269468.1	guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1 isoform 1
NM_002074.5	NP_002065.1	guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1 isoform 1

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 GTPase activity	IDA IDA: 通过直接分析推断	1543505	GOA
enables GTPase binding	IPI IPI: 通过物理相互作用推断	19255495	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	16782902	GOA
enables protein-containing complex binding	IDA IDA: 通过直接分析推断	23209302	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of heterotrimeric G-protein complex	IDA IDA: 通过直接分析推断	1543505	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

GNB1 蛋白结构

WD40

0
100
200
300
340 a.a.

蛋白主名

其他名称

guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1

beta subunit, signal-transducing proteins GS/GI

GNB1 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
Intra	GNB1	P62873	GNG5	Homo sapiens	P63218	MAPPIT	25416956
Intra	GNB1	P62873	GNG5	Homo sapiens	P63218	Anti Tag CoIP	35271311
Intra	GNB1	P62873	CTNNA3	Homo sapiens	Q9UI47-2	Validated Y2H	32296183
Intra	GNB1	P62873	VAC14	Homo sapiens	Q08AM6	Y2H Prey Pooling	32296183
Intra	GNB1	P62873	VAC14	Homo sapiens	Q08AM6	Validated Y2H	32296183
Intra	GNB1	P62873	VAC14	Homo sapiens	Q08AM6	Y2H Array	32296183
Intra	GNB1	P62873	DPF1	Homo sapiens	Q92782-2	Y2H Array	32814053
Intra	GNB1	P62873	DPF1	Homo sapiens	Q92782-2	Y2H Pooling	32814053
Intra	GNB1	P62873	DPF1	Homo sapiens	Q92782-2	Validated Y2H	32814053
Intra	GNB1	P62873	GNAI2	Homo sapiens	P04899	Anti Tag CoIP	16782902
Intra	GNB1	P62873	GNAI2	Homo sapiens	P04899	Anti Tag CoIP	35271311
Intra	GNB1	P62873	PFDN5	Homo sapiens	Q99471	Anti Tag CoIP	33961781
Intra	GNB1	P62873	NCF2	Homo sapiens	P19878	Anti Tag CoIP	16782902
Intra	GNB1	P62873	GNG2	Homo sapiens	P59768	Anti Tag CoIP	35271311
Intra	GNB1	P62873	GNG2	Homo sapiens	P59768	Pull Down	23739333
Intra	GNB1	P62873	GNG2	Homo sapiens	P59768	X-Ray Diffraction	23739333
Intra	GNB1	P62873	GNG2	Homo sapiens	P59768	Ion Exchange Chrom	23739333
Intra	GNB1	P62873	GNG2	Homo sapiens	P59768	GMS	32528175
Intra	GNB1	P62873	GNG2	Homo sapiens	P59768	3D-EM-Single	32528175
Intra	GNB1	P62873	GNG2	Homo sapiens	P59768	GMS	23739333
Intra	GNB1	P62873	GNG2	Homo sapiens	P59768	3D-EM	28437792

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, Autosomal Dominant 42

MRD42	Mental Retardation, Autosomal Dominant 42
Autosomal Dominant Non-Syndromic Intellectual Disability 42	Autosomal Dominant Intellectual Developmental Disorder 42
Autosomal Dominant Mental Retardation 42	Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome

Myelodysplastic Syndrome

Myelodysplastic Syndromes	Myelodysplasia
MDS	Myelodysplastic Syndrome Included
Myelodysplastic Syndrome, Susceptibility To, Included	Myelodysplastic Syndrome, Somatic
Myelodysplastic Syndrome, Susceptibility To

Hypotonia

Cerebral Visual Impairment

Cortical Visual Impairment	Central Visual Impairment
Visual Cortex Disorder

Hypothyroidism

Thyroid Diseases	Thyroid Disease
Thyroid Deficiency	Thyroid Insufficiency
Dysfunction Thyroid	Thyroid Dysfunction

Leukemia, Acute Lymphoblastic

Acute Lymphoblastic Leukemia	ALL
Acute Lymphocytic Leukemia	Leukemia, Acute Lymphocytic, Susceptibility To, 1
Acute Lymphoblastic Leukaemia	Precursor Lymphoblastic Lymphoma/Leukemia
Precursor Lymphoid Neoplasm	Leukemia, Acute Lymphoblastic, Susceptibility To
B-Cell Acute Lymphoblastic Leukemia	Leukemia, Acute Lymphocytic 1
Acute Lymphocytic Leukaemia	Acute Lymphoblastic Leukemia/Lymphoma
All1	Childhood Acute Lymphoblastic Leukemia
Leukemia Acute Lymphoblastic 1	Leukemia Acute Lymphoblastic B-Hyperdiploid
Leukemia Acute Lymphocytic	Leukemia Acute Lymphocytic 1
Leukemia B-Cell Acute Lymphoblastic	Leukemia T-Cell Acute Lymphoblastic
Leukemia, Acute Lymphoblastic, 3	ALL3
Lymphoblastic Leukemia Acute	Leukemia, Acute, Lymphoblastic
Precursor Cell Lymphoblastic Leukemia Lymphoma	Leukemia, Lymphocytic, Acute, L1
Leukemia, Acute Lymphoblastic, Susceptibility To, 3

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Cerebral Palsy

Infantile Cerebral Palsy	Mixed Cerebral Palsy
Palsy Cerebral	Palsy, Cerebral
Cerebral Palsy, Mixed

Strabismus

Strabismus, Susceptibility To	Strabismus, Susceptibility To, 1
Strabismus 1

Cleft Palate, Isolated

Cleft Palate	Isolated Cleft Palate
CPI	Cp
Palatoschisis	Cleft Palate Isolated
Uranostaphyloschisis	Congenital Fissure Of Palate
Cleft Of Secondary Palate

Autism Spectrum Disorder

Asd	Autism Spectrum Disorders
Autistic Continuum	Pervasive Developmental Disorder
Pervasive Development Disorder	Autistic Behavior
Autistic Disorder	Autistic
Autistic Disorder Of Childhood Onset	Infantile Autism
Childhood Autism	Kanner Syndrome
Pervasive Developmental Delay Nos	Pervasive Developmental Disorder, Not Otherwise Specified

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Optic Atrophy 8

OPA8

Night Blindness, Congenital Stationary, Type 1h

Congenital Stationary Night Blindness 1h	CSNB1H
Congenital Stationary Night Blindness Type 1h	Night Blindness, Congenital Stationary, 1h

Chronic Dacryoadenitis

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Chromosome 1p36 Deletion Syndrome

1p36 Deletion Syndrome	Deletion 1p36
Monosomy 1p36	Subtelomeric 1p36 Deletion
Monosomy 1p36 Syndrome	Distal Monosomy 1p36
Del(1)(P36)	Deletion 1pter
Monosomy 1pter

West Syndrome

Infantile Spasms	Infantile Spasms Syndrome
Infantile Spasm	X-Linked Infantile Spasm Syndrome
X-Linked Infantile Spasms	Epileptic Encephalopathy, Early Infantile, 1
Is	Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg
West'S Syndrome	Spasms, Infantile
Is -[Infantile Spasm]	Salaam Spasm
Salaam Tic

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-N6263	EGCG Octaacetate	Inhibitor	99.90%	否
HY-RS05545	GNB1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS05546	GNB1L Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	GNB1	VGNC	VGNC:29457
Canis familiaris	GNB1	VGNC	VGNC:41311
Macaca mulatta	GNB1	VGNC	VGNC:73095
Felis catus	GNB1	VGNC	VGNC:80222
Mus musculus	GNB1	MGD	MGI:95781
Rattus norvegicus	GNB1	RGD	RGD:2718
Others	GNB1	NCBI

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

GNB1 - G protein subunit beta 1 Gene

关于 GNB1

功能概要

GNB1 基因产物(3)

GNB1 蛋白结构

GNB1 蛋白互作信息

关联疾病

直系同源

热门区域

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GNB1 - G protein subunit beta 1 Gene

关于 GNB1

功能概要

GNB1 基因产物(3)

GNB1 蛋白结构

GNB1 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z