1. Gene
  2. ADCY7 - adenylate cyclase 7 Gene

ADCY7 - adenylate cyclase 7 Gene

中文名称:腺苷酸环化酶 7

种属: Homo sapiens

同用名: AC7

基因 ID: 113 | 基因类型: protein coding

关于 ADCY7

Cytogenetic location: 16q12.1 Genomic coordinates (GRCh38): 16:50,244,699-50,318,135 (from NCBI)

This gene has 16 transcripts (splice variants), 203 orthologues and 17 paralogues. Broad expression in spleen (RPKM 22.5), appendix (RPKM 19.0) and 24 other tissues.

功能概要

该基因编码一种膜结合的腺苷酸环化酶,该酶催化 ATP 形成环状 AMP,并可被钙抑制。该基因的产物是腺苷酸环化酶 4 类/鸟苷酸环化酶家族的成员,其特征在于其序列中存在十二个跨膜结构域。已经观察到该基因的几个转录本变体,但迄今为止只确定了两个的全长性质。[RefSeq 提供,2013 年 10 月]

This gene encodes a membrane-bound Adenylate Cyclase that catalyses the formation of cyclic AMP from ATP and is inhibitable by calcium. The product of this gene is a member of the adenylyl cyclase class-4/guanylyl cyclase enzyme family that is characterized by the presence of twelve membrane-spanning domains in its sequences. Several transcript variants have been observed for this gene, but the full-length natures of only two have been determined so far. [provided by RefSeq, Oct 2013]

ADCY7 基因产物(2)

mRNA Protein Name
NM_001114.5 NP_001105.1 adenylate cyclase type 7 isoform 1
NM_001286057.2 NP_001272986.1 adenylate cyclase type 7 isoform 2
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 adenylate cyclase activity IDA
IDA: 通过直接分析推断
11113152 GOA
enables adenylate cyclase activity IMP
IMP: 通过突变表型推断
18541530 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cAMP biosynthetic process IDA
IDA: 通过直接分析推断
11113152 GOA
involved in cellular response to ethanol IDA
IDA: 通过直接分析推断
12454008 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in membrane IDA
IDA: 通过直接分析推断
11113152 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

ADCY7 蛋白结构

Guanylate_cyc

Guanylate_cyc: Adenylate and Guanylate cyclase catalytic domain (271 - 430)

DUF1053

DUF1053: Domain of Unknown Function (DUF1053) (485 - 591)

Guanylate_cyc

Guanylate_cyc: Adenylate and Guanylate cyclase catalytic domain (871 - 1067)

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  • 1080 a.a.
蛋白主名 其他名称

adenylate cyclase type 7

ATP pyrophosphate-lyase 7

关联疾病

疾病名称 别名
Leber Congenital Amaurosis 1

LCA1

Amaurosis Congenita Of Leber I

Lca

Retinal Blindness, Congenital

Crb

Leber Congenital Amaurosis Type I

Leber Congenital Amaurosis, Type 1

Amaurosis Congenita Of Leber, Type 1

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
Felis catus ADCY7 VGNC VGNC:59620
Macaca mulatta ADCY7 VGNC VGNC:69515
Bos taurus ADCY7 VGNC VGNC:25648
Mus musculus ADCY7 MGD MGI:102891
Rattus norvegicus ADCY7 RGD RGD:619966
Canis familiaris ADCY7 VGNC VGNC:37624