Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
107
Gene name Gene Name - the full gene name approved by the HGNC.
Adenylate cyclase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ADCY1
Synonyms (NCBI Gene) Gene synonyms aliases
AC1, DFNB44
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DFNB44
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p12.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003091 Process Renal water homeostasis TAS
GO:0004016 Function Adenylate cyclase activity IBA 21873635
GO:0005516 Function Calmodulin binding IEA
GO:0005524 Function ATP binding IEA
GO:0005634 Component Nucleus IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
103072 232 ENSG00000164742
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Deafness autosomal recessive nonsyndromic hearing loss 44, hearing loss, autosomal recessive GenCC
Schizophrenia Schizophrenia GWAS
Diabetes Diabetes GWAS
Associations from Text Mining
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