ADCY1 (adenylate cyclase 1)

symbol:
ADCY1
locus group:
protein-coding gene
location:
7p12.3
gene_family:
Adenylate cyclases
alias symbol:
AC1
alias name:
adenylyl cyclase subtype 1
entrez id:
107
ensembl gene id:
ENSG00000164742
ucsc gene id:
uc003tne.5
refseq accession:
NM_021116
hgnc_id:
HGNC:232
approved reserved:
1992-12-02
7p12.3
基因染色体位置图

ADCY1(腺苷酸环化酶1)属于腺苷酸环化酶(AC)基因家族,该家族共有9个成员(ADCY1-9),它们共同编码腺苷酸环化酶,负责将ATP转化为第二信使cAMP,从而参与多种细胞信号传导通路。ADCY1主要在神经系统高表达,尤其是大脑皮层、海马和小脑,其产生的cAMP通过激活蛋白激酶A(PKA)调控神经元可塑性、学习记忆等关键功能。该基因定位于7p12.3,其蛋白产物具有典型的12次跨膜结构域和两个胞质催化结构域,受G蛋白偶联受体(GPCR)的Gsα亚基激活。ADCY1功能异常与多种神经系统疾病相关:突变可能导致智力障碍或精神分裂症风险增加,而阿尔茨海默病患者脑中常观察到ADCY1表达下降,这可能通过减少cAMP水平加剧tau蛋白过度磷酸化。过表达实验显示ADCY1能增强突触可塑性并改善记忆功能,但持续高活性可能导致异常神经兴奋;反之表达降低会损害长时程增强(LTP)效应。该基因还参与调节心脏功能,在心肌细胞中与β-肾上腺素受体信号偶联,其表达异常可能影响心脏收缩力。ADCY家族成员均含保守的催化核心区,但组织分布和调控机制各异:ADCY1对钙调蛋白敏感,而ADCY5主要受Gi蛋白抑制。最新研究发现ADCY1与疼痛感知相关,其抑制剂可能成为新型镇痛靶点。在癌症中,ADCY1表达变化与胶质瘤进展相关,可能通过影响CREB信号通路促进肿瘤侵袭。

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]

该基因编码的腺苷酸环化酶基因家族是主要在脑中表达的成员。该蛋白质是通过钙/钙调蛋白浓度调节并可能参与脑发育。选择性剪接结果在多个抄本变形。 [由RefSeq的,2013年8月提供]

ADCY1基因的碱基序列:[NCBI]
Loading Gene Browser...
ADCY1基因的碱基突变:           仅显示部分snp
rs3536       rs3537       rs4209       rs12754       rs867516       rs867582       rs868362       rs870010       rs871563       rs883988       rs939622       rs1006299       rs1042009       rs1104975       rs1122489       rs1124990       rs1128602      

ADCY1基因在不同组织中的表达:    [UniProt]

基因在不同组织中的表达图
正向引物序列
正向Tm值
反向引物序列
反向Tm值
评分
AAGACTGTCTGCTACCTGC
59
GGATCTGAACCTTGTCATCG
59
AAGACTGTCTGCTACCTGC
59
GGATCTGAACCTTGTCATCG
59
CCAGTTAACTTCAGTGCCA
58
GAATAATACTTCCCTTCCTTCCAC
59
GGAACATGGACCTCTACTACC
59
TGTAGAAGTCATTGAAGTTGGG
58
AAGGAGGACTTCCTGAAGC
59
CAGCAAACAGGATGCTCAC
59
TGCCATTGAGATGTTTGACG
59
ACATTGATGCCAACTCGGA
60
CAAGACTGTCTGCTACCTG
58
GATCTGAACCTTGTCATCGT
58
ATCCAGTTAACTTCAGTGCC
58
ATAATACTTCCCTTCCTTCCAC
57
CAAGACTGTCTGCTACCTG
58
GATCTGAACCTTGTCATCGT
58
AGATGAAGGAGGACTTCCTG
58
AACAGGATGCTCACATTGTC
58
      尚未收录相关数据

ADCY1基因(以及对应的蛋白质)的细胞分布位置:

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • 质膜
  • 细胞质
  • 细胞外
  • 高尔基体
  • 囊泡
  • 细胞骨架
  • 内质网
  • 细胞核
  • 内体
  • 溶酶体
  • 线粒体

ADCY1基因的本体(GO)信息:

GO库代码
对应的蛋白质
来源代码
GO:0000166
C9J1J0 (UniProtKB)
IEA
GO:0005622
C9J1J0 (UniProtKB)
IEA
GO:0009190
C9J1J0 (UniProtKB)
IEA
GO:0016021
C9J1J0 (UniProtKB)
IEA
GO:0016849
C9J1J0 (UniProtKB)
IEA
GO:0035556
C9J1J0 (UniProtKB)
IEA
GO:0003091
Q08828 (UniProtKB)
TAS
GO:0004016
Q08828 (UniProtKB)
IBA
GO:0004016
Q08828 (UniProtKB)
TAS
GO:0005516
Q08828 (UniProtKB)
IEA
GO:0005524
Q08828 (UniProtKB)
IEA
GO:0005634
Q08828 (UniProtKB)
IEA
GO:0005737
Q08828 (UniProtKB)
ISS
GO:0005886
Q08828 (UniProtKB)
IDA
GO:0005886
Q08828 (UniProtKB)
TAS
GO:0005886
Q08828 (UniProtKB)
TAS
GO:0005886
Q08828 (UniProtKB)
TAS
GO:0005886
Q08828 (UniProtKB)
TAS
GO:0005886
Q08828 (UniProtKB)
TAS
GO:0005886
Q08828 (UniProtKB)
TAS
GO:0005886
Q08828 (UniProtKB)
TAS
GO:0005886
Q08828 (UniProtKB)
TAS
GO:0005886
Q08828 (UniProtKB)
TAS
GO:0005886
Q08828 (UniProtKB)
TAS
GO:0005886
Q08828 (UniProtKB)
TAS
GO:0005886
Q08828 (UniProtKB)
TAS
GO:0005886
Q08828 (UniProtKB)
TAS
GO:0005887
Q08828 (UniProtKB)
ISS
GO:0006171
Q08828 (UniProtKB)
ISS
GO:0006171
Q08828 (UniProtKB)
IBA
GO:0007189
Q08828 (UniProtKB)
ISS
GO:0007189
Q08828 (UniProtKB)
IBA
GO:0007189
Q08828 (UniProtKB)
TAS
GO:0007190
Q08828 (UniProtKB)
TAS
GO:0007193
Q08828 (UniProtKB)
IBA
GO:0007193
Q08828 (UniProtKB)
TAS
GO:0007409
Q08828 (UniProtKB)
IEA
GO:0007616
Q08828 (UniProtKB)
IEA
GO:0007623
Q08828 (UniProtKB)
IEA
GO:0008294
Q08828 (UniProtKB)
ISS
GO:0008294
Q08828 (UniProtKB)
NAS
GO:0010226
Q08828 (UniProtKB)
IEA
GO:0019933
Q08828 (UniProtKB)
ISS
GO:0019933
Q08828 (UniProtKB)
IBA
GO:0034199
Q08828 (UniProtKB)
TAS
GO:0042493
Q08828 (UniProtKB)
IEA
GO:0042752
Q08828 (UniProtKB)
ISS
GO:0045121
Q08828 (UniProtKB)
IEA
GO:0046872
Q08828 (UniProtKB)
IEA
GO:0070062
Q08828 (UniProtKB)
IDA
GO:0071277
Q08828 (UniProtKB)
ISS
GO:0071377
Q08828 (UniProtKB)
TAS
GO:1904322
Q08828 (UniProtKB)
ISS

可能调控 ADCY1基因的相关microRNA:     

Reactome

String

基因与其他基因之间的相互作用关系图
序号 作用方式 资源库来源/分值 基因名称 基因名称
疾病名称 关系值 NofPmids NofSnps 来源
疾病名称 关系值 NofPmids NofSnps 来源
Hyperactive behavior 0.12 1 0 CTD_human
Substance Withdrawal Syndrome 0.12 1 0 CTD_human
DEAFNESS, AUTOSOMAL RECESSIVE 44 0.12 0 1 CLINVAR
Small cell carcinoma of lung 0.12 1 0 CTD_human
Weight Gain 0.002367032 1 0 GAD
Weight Gain Adverse Event 0.002367032 1 0 GAD
Mood Disorders 0.000271442 1 0 BeFree
Hyperthyroidism 0.000271442 1 0 BeFree
Alcoholic Intoxication, Chronic 0.000271442 1 0 BeFree
Depressive disorder 0.000271442 1 0 BeFree

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