1. Gene
  2. ADCY1 - adenylate cyclase 1 Gene

ADCY1 - adenylate cyclase 1 Gene

中文名称:腺苷酸环化酶 1

种属: Homo sapiens

同用名: AC1; DFNB44

基因 ID: 107 | 基因类型: protein coding

关于 ADCY1

Cytogenetic location: 7p12.3 Genomic coordinates (GRCh38): 7:45,574,140-45,723,116 (from NCBI)

This gene has 5 transcripts (splice variants), 294 orthologues, 17 paralogues and is associated with 2 phenotypes. Biased expression in brain (RPKM 14.3), testis (RPKM 1.6) and 7 other tissues.

功能概要

该基因编码主要在大脑中表达的腺苷酸环化酶基因家族的成员。这种蛋白质受钙/钙调蛋白浓度调节,可能参与大脑发育。交替剪接导致多个转录本变体。[RefSeq 提供,2013 年 8 月]

This gene encodes a member of the of Adenylate Cyclase gene family that is primarily expressed in the brain. This protein is regulated by calcium/Calmodulin concentration and may be involved in brain development. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

ADCY1 基因产物(2)

mRNA Protein Name
NM_001281768.2 NP_001268697.1 adenylate cyclase type 1 isoform 2
NM_021116.4 NP_066939.1 adenylate cyclase type 1 isoform 1
基因本体论
  • 细胞组分
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in plasma membrane IDA
IDA: 通过直接分析推断
11549699 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

ADCY1 蛋白结构

Guanylate_cyc

Guanylate_cyc: Adenylate and Guanylate cyclase catalytic domain (295 - 476)

Guanylate_cyc

Guanylate_cyc: Adenylate and Guanylate cyclase catalytic domain (860 - 1055)

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  • 1119 a.a.
蛋白主名 其他名称

adenylate cyclase type 1

3',5'-cyclic AMP synthetase

关联疾病

疾病名称 别名
Deafness, Autosomal Recessive 44

DFNB44

Autosomal Recessive Nonsyndromic Deafness 44

Autosomal Recessive Deafness 44

Deafness, Autosomal Recessive, 44

Deafness, Autosomal Recessive, Type 44

Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb

Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb

Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb

Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb

Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb

Cholera

Vibrio Cholerae Infection

Cholera - Vibrio Cholerae

Cholera Due To Vibrio Cholerae

Vibrio Cholerae

Cholera Syndrome

Asiatic Cholera

Epidemic Cholera

Intracranial Vasospasm

Vasospasm, Intracranial

Portal Hypertension

Hypertension, Portal

Hypertension Portal

Pht - [Portal Hypertension]

Portal Htn

Type 2 Diabetes Mellitus

Insulin Resistance

NIDDM

Type 2 Diabetes

Diabetes Mellitus, Non-Insulin-Dependent

T2D

Noninsulin-Dependent Diabetes Mellitus

Diabetes Mellitus, Type Ii

Maturity-Onset Diabetes

Insulin Resistance, Severe, Digenic

Diabetes Mellitus, Type 2

Diabetes Mellitus, Noninsulin-Dependent

Diabetes Mellitus, Noninsulin-Dependent, Association With

Diabetes Mellitus, Noninsulin-Dependent, Late Onset

Hypertension, Insulin Resistance-Related, Susceptibility To

Insulin Resistance, Susceptibility To

Non-Insulin-Dependent Diabetes Mellitus

Type Ii Diabetes Mellitus

Adult-Onset Diabetes Mellitus

Maturity-Onset Diabetes Mellitus

Diabetes Mellitus Type 2

Type Ii Diabetes

Type 2 Diabetes Mellitus, Susceptibility To

Diabetes, Type 2

Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 2, Susceptibility To

Diabetes Mellitus, Noninsulin-Dependent, 2

Diabetes Mellitus, Type Ii, Susceptibility To

Hypertension, Insulin Resistance-Related

Adult-Onset Diabetes

Aodm

Diabetes Mellitus, Adult-Onset

Diabetes Mellitus Type Ii

Diabetes Mellitus Type 2, Susceptibility To

Diabetes, Type Ii, Susceptibility To

Diabetes Type 2

Diabetes Mellitus

Adult Onset Diabetes

Maturity Onset Diabetes

Nonketotic Diabetes

Non-Insulin Dependent Diabetes Mellitus

T2dm - [Type 2 Diabetes Mellitus]

Niddm - [Non Insulin Dependent Diabetes Mellitus]

Dm2

Dm Type Ii

Diabetic Type 2

Insulin Requiring Type 2 Diabetes

Noninsulin Dependent Diabetes

Non-Insulin-Dependent Diabetes Mellitus Without Complications

Diabetes Due To Insulin Secretory Defect

Diabetes Mellitus Due To Insulin Secretory Defect

Non-Insulin-Dependent Diabetes Of The Young

Senile Diabetes

Nonketotic Hyperglycaemia

Stable Diabetes

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
Rattus norvegicus ADCY1 RGD RGD:1309318
Canis familiaris ADCY1 VGNC VGNC:37618
Mus musculus ADCY1 MGD MGI:99677
Felis catus ADCY1 VGNC VGNC:59613
Macaca mulatta ADCY1 VGNC VGNC:69505
Bos taurus ADCY1 VGNC VGNC:25642