GNAO1 - G protein subunit alpha o1 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2775

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	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	17500595	GOA

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

Cellular Component GO Annotation	Evidence	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05538	GNAO1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18822	Gnao1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25312	Gnao1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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