ENSG00000164742


Homo sapiens

Features
Gene ID: ENSG00000164742
  
Biological name :ADCY1
  
Synonyms : ADCY1 / adenylate cyclase 1 / Q08828
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: 1
Band: p12.3
Gene start: 45574140
Gene end: 45723116
  
Corresponding Affymetrix probe sets: 213245_at (Human Genome U133 Plus 2.0 Array)   215340_at (Human Genome U133 Plus 2.0 Array)   215348_at (Human Genome U133 Plus 2.0 Array)   232062_at (Human Genome U133 Plus 2.0 Array)   235049_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000479770
Ensembl peptide - ENSP00000297323
Ensembl peptide - ENSP00000392721
NCBI entrez gene - 107     See in Manteia.
OMIM - 103072
RefSeq - XM_005249585
RefSeq - NM_001281768
RefSeq - NM_021116
RefSeq - XM_005249584
RefSeq Peptide - NP_066939
RefSeq Peptide - NP_001268697
swissprot - Q08828
swissprot - C9J1J0
Ensembl - ENSG00000164742
  
Related genetic diseases (OMIM): 610154 - ?Deafness, autosomal recessive 44, 610154
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 adcy1aENSDARG00000069026Danio rerio
 adcy1bENSDARG00000088634Danio rerio
 ADCY1ENSGALG00000031170Gallus gallus
 Adcy1ENSMUSG00000020431Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ADCY6 / O43306 / adenylate cyclase 6ENSG0000017423340
ADCY5 / O95622 / adenylate cyclase 5ENSG0000017317539
ADCY8 / P40145 / adenylate cyclase 8ENSG0000015589736
ADCY4 / Q8NFM4 / adenylate cyclase 4ENSG0000012946734
ADCY7 / P51828 / adenylate cyclase 7ENSG0000012128134
ADCY2 / Q08462 / adenylate cyclase 2ENSG0000007829533
ADCY3 / O60266 / adenylate cyclase 3ENSG0000013803132
ADCY9 / O60503 / adenylate cyclase 9ENSG0000016210428


Protein motifs (from Interpro)
Interpro ID Name
 IPR001054  Adenylyl cyclase class-3/4/guanylyl cyclase
 IPR018297  Adenylyl cyclase class-4/guanylyl cyclase, conserved site
 IPR029787  Nucleotide cyclase
 IPR030672  Adenylate cyclase
 IPR032628  Adenylate cyclase, N-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0003091 renal water homeostasis TAS
 biological_processGO:0006171 cAMP biosynthetic process ISS
 biological_processGO:0006182 cGMP biosynthetic process IBA
 biological_processGO:0007165 signal transduction IBA
 biological_processGO:0007186 G-protein coupled receptor signaling pathway TAS
 biological_processGO:0007189 adenylate cyclase-activating G-protein coupled receptor signaling pathway TAS
 biological_processGO:0007190 activation of adenylate cyclase activity TAS
 biological_processGO:0007193 adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway TAS
 biological_processGO:0007409 axonogenesis IEA
 biological_processGO:0007420 brain development IEA
 biological_processGO:0007616 long-term memory IEA
 biological_processGO:0007623 circadian rhythm IEA
 biological_processGO:0009190 cyclic nucleotide biosynthetic process IEA
 biological_processGO:0010226 response to lithium ion IEA
 biological_processGO:0019933 cAMP-mediated signaling ISS
 biological_processGO:0034199 activation of protein kinase A activity TAS
 biological_processGO:0035556 intracellular signal transduction IEA
 biological_processGO:0042493 response to drug IEA
 biological_processGO:0042752 regulation of circadian rhythm IEA
 biological_processGO:0048511 rhythmic process IEA
 biological_processGO:0071277 cellular response to calcium ion ISS
 biological_processGO:0071377 cellular response to glucagon stimulus TAS
 biological_processGO:1904322 cellular response to forskolin ISS
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm ISS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane ISS
 cellular_componentGO:0008074 guanylate cyclase complex, soluble IBA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0045121 membrane raft IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004016 adenylate cyclase activity TAS
 molecular_functionGO:0004383 guanylate cyclase activity IBA
 molecular_functionGO:0005516 calmodulin binding IEA
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0008294 calcium- and calmodulin-responsive adenylate cyclase activity NAS
 molecular_functionGO:0016829 lyase activity IEA
 molecular_functionGO:0016849 phosphorus-oxygen lyase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Glucagon signaling in metabolic regulation
PKA activation
PKA activation in glucagon signalling
Adenylate cyclase activating pathway
Adenylate cyclase inhibitory pathway
G alpha (s) signalling events
G alpha (i) signalling events
G alpha (z) signalling events
Vasopressin regulates renal water homeostasis via Aquaporins
CREB phosphorylation through the activation of Adenylate Cyclase
Hedgehog off state


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000399 Deafness, sensorineural, prelingual, profound 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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