GNB1 - G protein subunit beta 1 Gene

Homo sapiens

Also known as MDS; HG2A; MRD42

Gene ID: 2782 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables GTPase activity	IDA IDA: Inferred from direct assay	1543505	GOA
enables GTPase binding	IPI IPI: Inferred from physical interaction	19255495	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16782902	GOA
enables protein-containing complex binding	IDA IDA: Inferred from direct assay	23209302	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of heterotrimeric G-protein complex	IDA IDA: Inferred from direct assay	1543505	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GNB1 Protein Structure

WD40

0
100
200
300
340 a.a.

Protein Preferred Names

Protein Names

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

beta subunit, signal-transducing proteins GS/GI

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-N6263	EGCG Octaacetate	Inhibitor	99.90%	Unkown
HY-RS05545	GNB1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS05546	GNB1L Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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