1. Gene
  2. GNAL - G protein subunit alpha L Gene

GNAL - G protein subunit alpha L Gene

中文名称:G 蛋白亚基α L

种属: Homo sapiens

同用名: HG1O; DYT25

基因 ID: 2774 | 基因类型: protein coding

关于 GNAL

Cytogenetic location: 18p11.21 Genomic coordinates (GRCh38): 18:11,689,264-11,885,685 (from NCBI)

This gene has 10 transcripts (splice variants), 233 orthologues, 15 paralogues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 7.2), prostate (RPKM 5.5) and 24 other tissues.

功能概要

该基因编码一个刺激性 G 蛋白 α 亚基,该亚基介导嗅觉上皮细胞中的气味信号。这种蛋白质偶联多巴胺 1 型受体和腺苷 A2A 受体,并在中枢神经系统中广泛表达。该基因的突变与肌张力障碍有关 25 并且该基因位于双相情感障碍和精神分裂症的易感区域。可变剪接导致多个转录本变体。[RefSeq 提供,2013 年 12 月]

This gene encodes a stimulatory G protein alpha subunit which mediates odorant signaling in the olfactory epithelium. This protein couples dopamine type 1 receptors and adenosine A2A receptors and is widely expressed in the central nervous system. Mutations in this gene have been associated with dystonia 25 and this gene is located in a susceptibility region for bipolar disorder and schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

GNAL 基因产物(5)

mRNA Protein Name
NM_001142339.3 NP_001135811.1 guanine nucleotide-binding protein G(olf) subunit alpha isoform 2
NM_001261443.2 NP_001248372.1 guanine nucleotide-binding protein G(olf) subunit alpha isoform 2
NM_001261444.2 NP_001248373.1 guanine nucleotide-binding protein G(olf) subunit alpha isoform 3
NM_001369387.1 NP_001356316.1 guanine nucleotide-binding protein G(olf) subunit alpha isoform 2
NM_182978.4 NP_892023.1 guanine nucleotide-binding protein G(olf) subunit alpha isoform 1
基因本体论
  • 分子功能
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
23994616 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

GNAL 蛋白结构

G-alpha

G-alpha: G-protein alpha subunit (17 - 370)

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

guanine nucleotide-binding protein G(olf) subunit alpha

adenylate cyclase-stimulating G alpha protein, olfactory type

关联疾病

疾病名称 别名
Dystonia 25

DYT25

Dystonia-25

Dystonia, Type 25

Dyt-Gnal

Dyt25

Autosomal Dominant Focal Dystonia, Dyt25 Type

Gnal-Related Dystonia

Adult Onset Cranial-Cervical Dystonia

Dystonia-25

Dystonia 25

Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia

Pseudohypoparathyroidism

Familial Pseudohypoparathyroidism

Parathyroid Hormone Resistant Hypoparathyroidism

Php - [Pseudohypoparathyroidism]

Constitutional Chronic Hypocalcaemia

Focal Dystonia

Dystonia, Focal, Task-Specific

Spasmodic Dystonia

Laryngeal Dystonia

Bipolar Disorder

Bipolar Depression

Manic Disorder

Depression, Bipolar

Bipolar Disorder Manic Phase

Depressive-Manic Psych.

Manic Bipolar Affective Disorder

Manic Bipolar I Disorder

Manic Depression

Manic Depressive Disorder

Mixed Bipolar Disorder

Bipolar Affective Disorder

Bipolar Affective Psychosis

Bipolar Spectrum Disorder

Manic Depressive Illness

Depression Bipolar

Bipolar Disorder, Mixed

Major Affective Disorder

Major Affective Disorder 1

Major Affective Disorder 2

Segmental Dystonia
Dystonia 24

DYT24

Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement

Dystonia-24

Dystonia, Type 24

Dystonia 12

DYT12

Rdp

Generalized Dystonia

Dystonia-12

Rapid-Onset Dystonia-Parkinsonism

Familial Dystonia

Dystonia Musculorum Deformans

Dystonic Disorders

Idiopathic Familial Dystonia

Dystonia-Parkinsonism, Rapid-Onset

Fragments Of Torsion Dystonia

Dyt-Atp1a3

Rapid-Onset Dystonia Parkinsonism

Rodp

Dystonia, Type 12

Dystonia 3, Torsion, X-Linked

Idiopathic Non-Familial Dystonia

Symptomatic Torsion Dystonia

Dystonia Disorders

Focal Hand Dystonia

Organic Writer'S Cramp

Dystonia, Focal, Task-Specific

Torsion Dystonia 2

Dystonia 2, Torsion, Autosomal Recessive

Cervical Dystonia

Spasmodic Torticollis

Torsion Dystonia 4
Multifocal Dystonia
Dystonia 1, Torsion, Autosomal Dominant

Dystonia Musculorum Deformans 1

Dystonia Musculorum Deformans

DYT1

Early-Onset Torsion Dystonia

Eotd

Dystonia-1, Torsion

Torsion Dystonia 1

Autosomal Dominant Torsion Dystonia 1

Dystonia-1

Oppenheim'S Dystonia

Oppenheim-Ziehen Disease

Early Onset Torsion Dystonia

Dystonia 3, Torsion, X-Linked

Hereditary Lymphedema Ii

Meige Syndrome

Meige Disease

Meige Lymphedema

Hereditary Lymphedema Type Ii

Lymphedema Hereditary Type 2

Lymphedema Praecox

Lymphedema, Hereditary, Ii

Blepharospasm-Oromandibular Dystonia Syndrome

Meige Dystonia

Meige'S Syndrome

Late-Onset Lymphedema

Lmph2

Lymphedema Preacox

Lymphedema, Late-Onset

Blepharospasm - Oromandibular Dystonia

Blepharospasm-Oromandibular Dystonia

Brueghel Syndrome

Idiopathic Blepharospasm-Oromandibular Dystonia Syndrome

Oral Facial Dystonia

Segmental Cranial Dystonia

Meigs Syndrome

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Blepharospasm
Oromandibular Dystonia
Lymphatic Malformation 5

Meige Syndrome

Meige Disease

Meige Lymphedema

Lymphedema Praecox

Lymphedema, Late-Onset

Late-Onset Lymphedema

LMPH2

Meigs Syndrome

LMPHM5

Lymphedema, Hereditary, Ii, Formerly

Lmph2, Formerly

Hereditary Lymphedema Ii

Demons-Meigs Syndrome

Hereditary Lymphedema Type Ii

Lymphedema, Hereditary, 2

Lymphedema, Hereditary, Ii

Meige'S Disease

Dystonia 27

DYT27

Primary Dystonia, Dyt27 Type

Dystonia, Type 27

Hemidystonia
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

Leukodystrophy, Hypomyelinating, 6

Habc

Hypomyelinating Leukodystrophy 6

HLD6

H-Abc

Hypomyelination With Atrophy Of Basal Ganglia And Cerebellum

Leukodystrophy, Hypomyelinating, With Atrophy Of The Basal Ganglia And Cerebellum

Hypomyelinating Leukodystrophy With Atrophy Of The Basal Ganglia And Cerebellum

HLD

Leukodystrophy, Hypomyelinating, Type 6

Major Depressive Disorder

Seasonal Affective Disorder

Unipolar Depression

Depression

MDD

Depressive Disorder

Unipolar Depression, Susceptibility To

Major Depressive Disorder 1

Major Depressive Disorder, Response To Citalopram Therapy In

Major Depressive Disorder 2

Winter Depression

Single Major Depressive Episode

Sad

Clinical Depression

Major Depression

Depressive Syndrome

Major Depressive Disorder And Accelerated Response To Antidepressant Drug Treatment

Seasonal Affective Disorder, Susceptibility To

Recurrent Major Depression

Affective Disorder, Seasonal

Depression In A Seasonal Pattern

Depression

Seasonal

Major Depressive Disorder With A Seasonal Pattern

Seasonal Depression

Seasonal Mood Disorder

Mental Depression

Recurrent Major Depressive Episodes

Dystonia 11, Myoclonic

Myoclonic Dystonia

Myoclonus-Dystonia Syndrome

DYT11

Myoclonic Dystonia 11

Alcohol-Responsive Dystonia

Myoclonus, Hereditary Essential

Dystonia-11, Myoclonic

Myoclonus-Dystonia

Dystonia 11

Hereditary Essential Myoclonus

Dystonia, Alcohol-Responsive

Dyt-Sgce

Dystonia, Alcohol Responsive

Dystonia-11

Dystonia, Myoclonic

Dystonia, Myoclonic, Type 11

Mood Disorder

Mood Disorders

Episodic Mood Disorder

Movement Disease

Movement Disorders

Movement Disorder

Alternating Hemiplegia Of Childhood

Alternating Hemiplegia

Ahc

Alternating Hemiplegia Syndrome

Hemiplegia, Alternating, Of Childhood

Hemiplegia, Crossed

Choreatic Disease

Chorea

Hereditary Chorea

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
Bos taurus GNAL VGNC VGNC:29452
Felis catus GNAL VGNC VGNC:62618
Macaca mulatta GNAL VGNC VGNC:104224
Mus musculus GNAL MGD MGI:95774
Canis familiaris GNAL VGNC VGNC:41304
Rattus norvegicus GNAL RGD RGD:2715
Macaca fascicularis GNAL NCBI NCBI:102137826
Others GNAL NCBI