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  2. GNAO1 - G protein subunit alpha o1 Gene

GNAO1 - G protein subunit alpha o1 Gene

中文名称:G 蛋白亚基αo1

种属: Homo sapiens

同用名: GNAO; HG1G; DEE17; NEDIM; EIEE17; HLA-DQB1; G-ALPHA-o

基因 ID: 2775 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质代表 Go 异源三聚体 G 蛋白信号转导复合物的 α 亚基。该基因的缺陷是早发性癫痫性脑病的一个原因。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供,2015 年 8 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
17500595 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in adenylate cyclase-inhibiting serotonin receptor signaling pathway IDA
IDA: 通过直接分析推断
29925951 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
29925951 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
34685729 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

GNAO1 蛋白结构

G-alpha

G-alpha: G-protein alpha subunit (6 - 343)

  • 0
  • 100
  • 200
  • 300
  • 354 a.a.
蛋白主名 其他名称

guanine nucleotide-binding protein G(o) subunit alpha

GO2-q chimeric G-protein

GNAO1 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
种属内
GNAO1 P09471 RPS6KA3 Homo sapiens P51812
Y2H Pooling
32814053
种属内
GNAO1 P09471 RPS6KA3 Homo sapiens P51812
Validated Y2H
32814053
种属内
GNAO1 P09471 RPS6KA3 Homo sapiens P51812
Y2H Array
32814053
种属内
GNAO1 P09471 NEK7 Homo sapiens Q8TDX7
Y2H Pooling
32814053
种属内
GNAO1 P09471 NEK7 Homo sapiens Q8TDX7
Validated Y2H
32814053
种属内
GNAO1 P09471 NEK7 Homo sapiens Q8TDX7
Y2H Array
32814053
种属内
GNAO1 P09471 TGFBR2 Homo sapiens P37173
Y2H Array
32814053
种属内
GNAO1 P09471 TGFBR2 Homo sapiens P37173
Validated Y2H
32814053
种属内
GNAO1 P09471 TGFBR2 Homo sapiens P37173
Y2H Pooling
32814053
种属内
GNAO1 P09471 DLST Homo sapiens P36957
Validated Y2H
32814053
种属内
GNAO1 P09471 DLST Homo sapiens P36957
Y2H Array
32814053
种属内
GNAO1 P09471 DLST Homo sapiens P36957
Y2H Pooling
32814053
种属内
GNAO1 P09471 VCP Homo sapiens P55072
Validated Y2H
32814053
种属内
GNAO1 P09471 VCP Homo sapiens P55072
Y2H Pooling
32814053
种属内
GNAO1 P09471 VCP Homo sapiens P55072
Y2H Array
32814053
种属内
GNAO1 P09471 HTT Homo sapiens P42858
Validated Y2H
32814053
种属内
GNAO1 P09471 HTT Homo sapiens P42858
Y2H Array
32814053
种属内
GNAO1 P09471 HTT Homo sapiens P42858
Y2H Pooling
32814053
种属内
GNAO1 P09471 RIC8A Homo sapiens Q9NPQ8
Anti Tag CoIP
33961781
种属内
GNAO1 P09471 CBX5 Homo sapiens P45973
Validated Y2H
32814053
种属内
GNAO1 P09471 CBX5 Homo sapiens P45973
Y2H Array
32814053
种属内
GNAO1 P09471 CBX5 Homo sapiens P45973
Y2H Pooling
32814053
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
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

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

直系同源

种属 基因名 来源 基因 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