1. Gene
  2. ADCY5 - adenylate cyclase 5 Gene

ADCY5 - adenylate cyclase 5 Gene

中文名称:腺苷酸环化酶 5

种属: Homo sapiens

同用名: AC5; FDFM; DSKOD

基因 ID: 111 | 基因类型: protein coding

关于 ADCY5

Cytogenetic location: 3q21.1 Genomic coordinates (GRCh38): 3:123,282,296-123,449,090 (from NCBI)

This gene has 16 transcripts (splice variants), 206 orthologues, 17 paralogues and is associated with 6 phenotypes. Broad expression in heart (RPKM 22.9), brain (RPKM 7.3) and 17 other tissues.

功能概要

该基因编码膜结合腺苷酸环化酶的成员。腺苷酸环化酶通过合成第二信使 cAMP 介导 G 蛋白偶联受体信号传导。编码蛋白的活性受 G 蛋白偶联受体的 Gs α 亚基刺激,并受蛋白激酶 A、钙和 Gi α 亚基抑制。该基因的单核苷酸多态性可能与低出生体重和 2 型糖尿病有关。已经观察到该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2010 年 12 月]

This gene encodes a member of the membrane-bound adenylyl cyclase enzymes. Adenylyl cyclases mediate G protein-coupled receptor signaling through the synthesis of the second messenger cAMP. Activity of the encoded protein is stimulated by the Gs alpha subunit of G protein-coupled receptors and is inhibited by protein kinase A, calcium and Gi alpha subunits. Single nucleotide polymorphisms in this gene may be associated with low birth weight and type 2 diabetes. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]

ADCY5 基因产物(3)

mRNA Protein Name
NM_001199642.1 NP_001186571.1 adenylate cyclase type 5 isoform 2
NM_001378259.1 NP_001365188.1 adenylate cyclase type 5 isoform 3
NM_183357.3 NP_899200.1 adenylate cyclase type 5 isoform 1

ADCY5 蛋白结构

Guanylate_cyc

Guanylate_cyc: Adenylate and Guanylate cyclase catalytic domain (461 - 621)

DUF1053

DUF1053: Domain of Unknown Function (DUF1053) (669 - 761)

Guanylate_cyc

Guanylate_cyc: Adenylate and Guanylate cyclase catalytic domain (1063 - 1256)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1261 a.a.
蛋白主名 其他名称

adenylate cyclase type 5

ATP pyrophosphate-lyase 5

关联疾病

疾病名称 别名
Dyskinesia With Orofacial Involvement, Autosomal Dominant

Dyskinesia, Familial, With Facial Myokymia

FDFM

Adcy5-Related Dyskinesia

Familial Dyskinesia And Facial Myokymia

DSKOD

Familial Dyskinesia With Facial Myokymia

Dyskinesia With Orofacial Involvement, Autosomal Recessive

DSKOR

Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia

NEDHYD

Chorea, Benign Hereditary

Benign Hereditary Chorea

BHC

Chorea, Hereditary Benign

Benign Familial Chorea

Bch

Hereditary Progressive Chorea Without Dementia

Chorea Familial Benign

Hereditary Chorea Without Dementia

Chorea Benign Hereditary

Bche Deficiency

Chorea, Hereditary, Benign

Chorea, Benign Familial

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

Hemiplegia

Infantile Hemiplegia

Postnatal Infantile Hemiplegia

Hemiplegia, Infantile

Neurodevelopmental Disorder With Involuntary Movements

NEDIM

Cowden Syndrome 6

CWS6

Cowden Syndrome, Type 6

Choreatic Disease

Chorea

Hereditary Chorea

Alternating Hemiplegia Of Childhood

Alternating Hemiplegia

Ahc

Alternating Hemiplegia Syndrome

Hemiplegia, Alternating, Of Childhood

Hemiplegia, Crossed

Angiostrongyliasis

A. Cantonensis Angiostrongyliasis

Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia

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

Movement Disease

Movement Disorders

Movement Disorder

Long Qt Syndrome 1

Romano-Ward Syndrome

LQT1

Ward-Romano Syndrome

Rws

Ventricular Fibrillation With Prolonged Qt Interval

Wrs

Long Qt Syndrome 1, Acquired, Susceptibility To

Long Qt Syndrome 1, Acquired

Romano-Ward Long Qt Syndrome

Long Qt Syndrome Type 1

Long Qt Syndrome-1

Acquired Susceptibility To Long Qt Syndrome 1

Qt Syndrome, Long, Type 1

Maturity-Onset Diabetes Of The Young

MODY

Maturity Onset Diabetes Mellitus In Young

Mason-Type Diabetes

Mason Type Diabetes

Maturity Onset Diabetes Of The Young

Mody Syndrome

Diabetes Of The Young, Maturity-Onset

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 ADCY5 VGNC VGNC:25646
Felis catus ADCY5 VGNC VGNC:59618
Rattus norvegicus ADCY5 RGD RGD:71014
Mus musculus ADCY5 MGD MGI:99673
Canis familiaris ADCY5 VGNC VGNC:37622
Macaca mulatta ADCY5 VGNC VGNC:69512