GNAO1 - G protein subunit alpha o1 Gene

Homo sapiens

Also known as GNAO; HG1G; DEE17; NEDIM; EIEE17; HLA-DQB1; G-ALPHA-o

Gene ID: 2775 | Gene type: protein coding

About GNAO1

Cytogenetic location: 16q13 Genomic coordinates (GRCh38): 16:56,191,489-56,357,444 (from NCBI)

This gene has 27 transcripts (splice variants), 169 orthologues, 15 paralogues and is associated with 5 phenotypes. Biased expression in brain (RPKM 43.5), testis (RPKM 4.7) and 2 other tissues.

Summary

The protein encoded by this gene represents the alpha subunit of the Go heterotrimeric G-protein signal-transducing complex. Defects in this gene are a cause of early-onset epileptic encephalopathy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]

GNAO1 Products(2)

mRNA	Protein	Name
NM_020988.3	NP_066268.1	guanine nucleotide-binding protein G(o) subunit alpha isoform a
NM_138736.3	NP_620073.2	guanine nucleotide-binding protein G(o) subunit alpha isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	17500595	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in adenylate cyclase-inhibiting serotonin receptor signaling pathway	IDA IDA: Inferred from direct assay	29925951	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of heterotrimeric G-protein complex	IDA IDA: Inferred from direct assay	29925951	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	34685729	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

GNAO1 Protein Structure

G-alpha

0
100
200
300
354 a.a.

Protein Preferred Names

Protein Names

guanine nucleotide-binding protein G(o) subunit alpha

GO2-q chimeric G-protein

GNAO1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	GNAO1	P09471	RPS6KA3	Homo sapiens	P51812	Y2H Pooling	32814053
Intra	GNAO1	P09471	RPS6KA3	Homo sapiens	P51812	Validated Y2H	32814053
Intra	GNAO1	P09471	RPS6KA3	Homo sapiens	P51812	Y2H Array	32814053
Intra	GNAO1	P09471	NEK7	Homo sapiens	Q8TDX7	Y2H Pooling	32814053
Intra	GNAO1	P09471	NEK7	Homo sapiens	Q8TDX7	Validated Y2H	32814053
Intra	GNAO1	P09471	NEK7	Homo sapiens	Q8TDX7	Y2H Array	32814053
Intra	GNAO1	P09471	TGFBR2	Homo sapiens	P37173	Y2H Array	32814053
Intra	GNAO1	P09471	TGFBR2	Homo sapiens	P37173	Validated Y2H	32814053
Intra	GNAO1	P09471	TGFBR2	Homo sapiens	P37173	Y2H Pooling	32814053
Intra	GNAO1	P09471	DLST	Homo sapiens	P36957	Validated Y2H	32814053
Intra	GNAO1	P09471	DLST	Homo sapiens	P36957	Y2H Array	32814053
Intra	GNAO1	P09471	DLST	Homo sapiens	P36957	Y2H Pooling	32814053
Intra	GNAO1	P09471	VCP	Homo sapiens	P55072	Validated Y2H	32814053
Intra	GNAO1	P09471	VCP	Homo sapiens	P55072	Y2H Pooling	32814053
Intra	GNAO1	P09471	VCP	Homo sapiens	P55072	Y2H Array	32814053
Intra	GNAO1	P09471	HTT	Homo sapiens	P42858	Validated Y2H	32814053
Intra	GNAO1	P09471	HTT	Homo sapiens	P42858	Y2H Array	32814053
Intra	GNAO1	P09471	HTT	Homo sapiens	P42858	Y2H Pooling	32814053
Intra	GNAO1	P09471	RIC8A	Homo sapiens	Q9NPQ8	Anti Tag CoIP	33961781
Intra	GNAO1	P09471	CBX5	Homo sapiens	P45973	Validated Y2H	32814053
Intra	GNAO1	P09471	CBX5	Homo sapiens	P45973	Y2H Array	32814053
Intra	GNAO1	P09471	CBX5	Homo sapiens	P45973	Y2H Pooling	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Developmental And Epileptic Encephalopathy 17

DEE17	Epileptic Encephalopathy, Early Infantile, 17
Eiee17	Developmental And Epileptic Encephalopathy, 17
Early Infantile Epileptic Encephalopathy 17	Developmental And Epileptic Encephalopathy, Type 17

Neurodevelopmental Disorder With Involuntary Movements

NEDIM

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression	Early Infantile Epileptic Encephalopathy With Suppression Bursts
Eiee	Early Infantile Epileptic Encephalopathy With Suppression-Bursts
Ohtahara Syndrome	Encephalopathy, Epileptic, Early Infantile

Gnao1-Related Developmental Delay-Seizures-Movement Disorder Spectrum

Gnao1-Related Spectrum

Ohtahara Syndrome

Rare Genetic Intellectual Disability

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

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

Movement Disease

Movement Disorders

Movement Disorder

Choreatic Disease

Chorea

Hereditary Chorea

Developmental And Epileptic Encephalopathy 1

Epileptic Encephalopathy, Early Infantile, 1	Infantile Epileptic-Dyskinetic Encephalopathy
DEE1	Eiee1
Issx1	Xmesid
X-Linked Infantile Spasm Syndrome 1	X-Linked Infantile Spasm Syndrome
X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome	Developmental And Epileptic Encephalopathy, 1
Infantile Epileptic Dyskinetic Encephalopathy	Infantile Spasm Syndrome, X-Linked 1
West Syndrome, X-Linked	Ohtahara Syndrome, X-Linked
Early Infantile Epileptic Encephalopathy 1	Early Infantile Epileptic Encephalopathy-1
Issx	X-Linked Ohtahara Syndrome
X-Linked West Syndrome	Infantile Spasm Syndrome X-Linked 1
Myoclonic Epilepsy X-Linked With Intellectual Disability And Spasticity	Ohtahara Syndrome X-Linked
West Syndrome X-Linked	Encephalopathy, Epileptic, Early Infantile, Type 1

Encephalopathy

Brain Diseases	Encephalopathies
Toxic Encephalopathy	Toxic Brain Fever
Toxic Brain Inflammation	Toxic Brain Stem Inflammation
Toxic Cerebral Fever	Toxic Cerebrospinal Fever
Toxic Cerebrospinal Inflammation	Encephalopathy Nec
Encephalopathy Nos	Encephalopathy Disease
Encephalopathy Syndrome

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

Congenital Stationary Night Blindness

Night Blindness, Congenital Stationary	Congenital Essential Nyctalopia
Oguchi Disease	Blindness, Night, Stationary, Congenital

Microcephaly

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

Night Blindness

Nyctalopia

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

Peho Syndrome

Progressive Encephalopathy With Edema, Hypsarrhythmia, And Optic Atrophy	Infantile Cerebellooptic Atrophy
PEHO	Progressive Encephalopathy With Edema, Hypsarrhythmia And Optic Atrophy
Progressive Encephalopathy-Optic Atrophy Syndrome

Dyskinetic Cerebral Palsy

Athetoid Cerebral Palsy	Athetoid Dyskinetic Cerebral Palsy
Cerebral Palsy Athetoid	Cerebral Palsy Dyskinetic
Athetoid Cerebral Paralysis	Dyskinetic Cerebral Paralysis
Vogt Disease	Athetoid Cerebrum Palsy
Double Athetosis Syndrome	État Marbré

Partial Motor Epilepsy

Epilepsy, Partial, Motor	Epilepsy, Focal Motor
Focal Motor Seizure

Rett Syndrome

Atypical Rett Syndrome	RTT
Rett Disorder	Rts
Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use	Rett Syndrome, Preserved Speech Variant
Rett Syndrome, Atypical	Rett'S Disorder
Rett Syndrome Variant	Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome
Cerebroatrophic Hyperammonemia	Rett Like Syndrome
Rett'S Syndrome	Atypical Rtt
Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use	Rett Syndrome Preserved Speech Variant
Rett Syndrome Zappella Variant	Rett Syndrome, Zappella Variant

Benign Familial Infantile Epilepsy

Benign Familial Infantile Seizures	Bfie
Benign Familial Infantile Convulsion	Bfic
Bfis	Benign Familial Infantile Convulsions
Familial Benign Neonatal Epilepsy	Watanabe-Vigevano Syndrome

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05538	GNAO1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	GNAO1	VGNC	VGNC:41305
Bos taurus	GNAO1	VGNC	VGNC:57047
Rattus norvegicus	GNAO1	RGD	RGD:628732
Macaca mulatta	GNAO1	VGNC	VGNC:73092
Mus musculus	GNAO1	MGD	MGI:95775
Others	GNAO1	NCBI

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