Gene Gene information from NCBI Gene database.
Entrez ID 107
Gene name Adenylate cyclase 1
Gene symbol ADCY1
Synonyms (NCBI Gene)
AC1DFNB44
Chromosome 7
Chromosome location 7p12.3
Summary 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 tra
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs587777497 C>T Pathogenic Coding sequence variant, stop gained, 3 prime UTR variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
733
miRTarBase ID miRNA Experiments Reference
MIRT052078 hsa-let-7b-5p CLASH 23622248
MIRT044544 hsa-miR-320a CLASH 23622248
MIRT043290 hsa-miR-331-3p CLASH 23622248
MIRT042602 hsa-miR-423-3p CLASH 23622248
MIRT767783 hsa-miR-1 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
47
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004016 Function Adenylate cyclase activity IBA
GO:0004016 Function Adenylate cyclase activity IEA
GO:0005516 Function Calmodulin binding IEA
GO:0005524 Function ATP binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
103072 232 ENSG00000164742
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q08828
Protein name Adenylate cyclase type 1 (EC 4.6.1.1) (ATP pyrophosphate-lyase 1) (Adenylate cyclase type I) (Adenylyl cyclase 1) (Ca(2+)/calmodulin-activated adenylyl cyclase)
Protein function Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling. Mediates responses to increased cellular Ca(2+)/calmodulin levels (By similarity). May be involved in regulatory processes in the central nervous system.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16214 AC_N 34 292 Adenylyl cyclase N-terminal extracellular and transmembrane region Family
PF00211 Guanylate_cyc 294 477 Adenylate and Guanylate cyclase catalytic domain Domain
PF00211 Guanylate_cyc 859 1056 Adenylate and Guanylate cyclase catalytic domain Domain
Tissue specificity TISSUE SPECIFICITY: Detected in zona glomerulosa and zona fasciculata in the adrenal gland (at protein level) (PubMed:11549699). Brain, retina and adrenal medulla. {ECO:0000269|PubMed:11549699, ECO:0000269|PubMed:8314585}.
Sequence
MAGAPRGGGGGGGGAGEPGGAERAAGTSRRRGLRACDEEFACPELEALFRGYTLRLEQAA
TLKALAVLSLLAGALALAELLGAPGPAPGLAKGSHPVHCVLFLALLVVTNVRSLQVPQLQ
QVGQLALLFSLTFALLCCPFALGGPARGSAGAAGGPATAEQGVWQLLLVTFVSYALLPVR
SLLAIGFGLVVAASHLLVTATLVPAKRPRLWRTLGANALLFVGVNMYGVFVRILTERSQR
KAFLQARSCIEDRLRLEDENEKQERLLMSLLPRNVAMEMKEDFLKPPERIFH
KIYIQRHD
NVSILFADIVGFTGLASQCTAQELVKLLNELFGKFDELATENHCRRIKILGDCYYCVSGL
TQPKTDHAHCCVEMGLDMIDTITSVAEATEVDLNMRVGLHTGRVLCGVLGLRKWQYDVWS
NDVTLANVMEAAGLPGKVHITKTTLACLNGDYEVEPGYGHERNSFLKTHNIETFFIV
PSH
RRKIFPGLILSDIKPAKRMKFKTVCYLLVQLMHCRKMFKAEIPFSNVMTCEDDDKRRALR
TASEKLRNRSSFSTNVVYTTPGTRVNRYISRLLEARQTELEMADLNFFTLKYKHVEREQK
YHQLQDEYFTSAVVLTLILAALFGLVYLLIFPQSVVVLLLLVFCICFLVACVLYLHITRV
QCFPGCLTIQIRTVLCIFIVVLIYSVAQGCVVGCLPWAWSSKPNSSLVVLSSGGQRTALP
TLPCESTHHALLCCLVGTLPLAIFFRVSSLPKMILLSGLTTSYILVLELSGYTRTGGGAV
SGRSYEPIVAILLFSCALALHARQVDIRLRLDYLWAAQAEEEREDMEKVKLDNRRILFNL
LPAHVAQHFLMSNPRNMDLYYQSYSQVGVMFASIPNFNDFYIELDGNNMGVECLRLLNEI
IADFDELMEKDFYKDIEKIKTIGSTYMAAVGLAPTSGTKAKKSISSHLSTLADFAIEMFD
VLDEINYQSYNDFVLRVGINVGPVVAGVIGARRPQYDIWGNTVNVASRMDSTGVQGRIQV
TEEVHRLLRRCPYHFVCRGKVSVKGKGEMLTYFLEG
RTDGNGSQIRSLGLDRKMCPFGRA
GLQGRRPPVCPMPGVSVRAGLPPHSPGQYLPSAAAGKEA
Sequence length 1119
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
36
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ADCY1-related disorder Benign; Likely benign rs142005939, rs149213275, rs189182716, rs183381014, rs139030994, rs545478777, rs144232626, rs200103818, rs145852812, rs1281383000, rs373262043, rs1021014403, rs75860455, rs77524127, rs61735492
View all (3 more)
RCV003910960
RCV004757477
RCV003911007
RCV003941172
RCV004757523
RCV003951184
RCV003951301
RCV003916490
RCV003893476
RCV003911428
RCV003939868
RCV003961765
RCV003952972
RCV003917970
RCV003980364
RCV003908117
RCV003938177
RCV003910596
Autosomal recessive nonsyndromic hearing loss 44 Conflicting classifications of pathogenicity; Benign; Likely benign; no classifications from unflagged records rs74535389, rs2461131, rs2471231, rs2247685, rs2461114, rs142005939, rs587777497, rs2293106 RCV001329842
RCV001549071
RCV001549072
RCV001549073
RCV001549074
RCV002506726
RCV000128528
RCV001549075
Cervical cancer Benign rs77565381 RCV005922358
Lung cancer Benign rs77565381 RCV005922360
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenoma Associate 4341502
Bipolar Disorder Associate 27063557
Carcinoma Renal Cell Associate 32481352
Chronic Pain Associate 28968502
Cysts Associate 22952279
Death Associate 31285280
Leukemia Lymphoma Adult T Cell Associate 37832654
Melanoma Associate 30867808
Neoplasm Metastasis Associate 31173190
Neoplasms Associate 25787250, 31285280, 33960436