GNB1 - G protein subunit beta 1 Gene

Also Known as MDS; HG2A; MRD42

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2782

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	Références	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	Références	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

GNB1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
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

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS05545	GNB1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS05546	GNB1L Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20745	Gnb1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27257	Gnb1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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