ADCY5
entrez
111
canonical
uniprot
O95622
canonical
ensembl
ENSG00000173175
resolver
ensp
ENSP00000308685
resolver
ensp
ENSP00000418537
resolver
ensp
ENSP00000419361
resolver
ensp
ENSP00000420082
resolver
ensp
ENSP00000514539
resolver
ensp
ENSP00000514541
resolver
ensp
ENSP00000514542
resolver
ensp
ENSP00000514543
resolver
enst
ENST00000491190
resolver
enst
ENST00000699718
resolver
genesymbol
ADCY5
resolver
hgnc
HGNC:236
resolver
uniprot
A0A384P5Q5
resolver
uniprot
A0A8V8TP58
resolver
uniprot
B3KWA8
resolver
uniprot
B7Z2C7
resolver
uniprot
B7Z8A6
resolver
uniprot
F6W4J8
resolver
uniprot
Q7RTV7
resolver
uniprot
Q8NFM3
resolver
uniprot_entry
A0A384P5Q5_HUMAN
resolver
uniprot_entry
A0A8V8TP58_HUMAN
resolver
uniprot_entry
ADCY5_HUMAN
resolver
uniprot_entry
B3KWA8_HUMAN
resolver
uniprot_entry
B7Z2C7_HUMAN
resolver
uniprot_entry
F6W4J8_HUMAN
resolver
uniprot_sec
B7Z8A6
resolver
uniprot_sec
Q7RTV7
resolver
uniprot_sec
Q8NFM3
resolver
activity_regulation
ACTIVITY REGULATION: Activated by G(s) G alpha protein GNAS (PubMed:26206488). Inhibited by G(i) G alpha protein GNAI1 (By similarity). Activity is further increased by interaction with the G-protein beta and gamma subunit complex formed by GNB1 and GNG2 (PubMed:26206488). Activated by forskolin (PubMed:24700542). Is not activated by calmodulin. Inhibited by adenosine and ATP analogs (PubMed:26206488). Inhibited by calcium ions, already at micromolar concentrations (By similarity). Phosphorylation by RAF1 results in its activation (PubMed:15385642). {ECO:0000250|UniProtKB:P30803, ECO:0000269|PubMed:15385642, ECO:0000269|PubMed:24700542, ECO:0000269|PubMed:26206488}.
uniprot
proteins
amino_acid_sequence
MSGSKSVSPPGYAAQKTAAPAPRGGPEHRSAWGEADSRANGYPHAPGGSARGSTKKPGGAVTPQQQQRLASRWRSDDDDDPPLSGDDPLAGGFGFSFRSKSAWQERGGDDCGRGSRRQRRGAASGGSTRAPPAGGGGGSAAAAASAGGTEVRPRSVEVGLEERRGKGRAADELEAGAVEGGEGSGDGGSSADSGSGAGPGAVLSLGACCLALLQIFRSKKFPSDKLERLYQRYFFRLNQSSLTMLMAVLVLVCLVMLAFHAARPPLQLPYLAVLAAAVGVILIMAVLCNRAAFHQDHMGLACYALIAVVLAVQVVGLLLPQPRSASEGIWWTVFFIYTIYTLLPVRMRAAVLSGVLLSALHLAIALRTNAQDQFLLKQLVSNVLIFSCTNIVGVCTHYPAEVSQRQAFQETRECIQARLHSQRENQQQERLLLSVLPRHVAMEMKADINAKQEDMMFHKIYIQKHDNVSILFADIEGFTSLASQCTAQELVMTLNELFARFDKLAAENHCLRIKILGDCYYCVSGLPEARADHAHCCVEMGMDMIEAISLVREVTGVNVNMRVGIHSGRVHCGVLGLRKWQFDVWSNDVTLANHMEAGGKAGRIHITKATLNYLNGDYEVEPGCGGERNAYLKEHSIETFLILRCTQKRKEEKAMIAKMNRQRTNSIGHNPPHWGAERPFYNHLGGNQVSKEMKRMGFEDPKDKNAQESANPEDEVDEFLGRAIDARSIDRLRSEHVRKFLLTFREPDLEKKYSKQVDDRFGAYVACASLVFLFICFVQITIVPHSIFMLSFYLTCSLLLTLVVFVSVIYSCVKLFPSPLQTLSRKIVRSKMNSTLVGVFTITLVFLAAFVNMFTCNSRDLLGCLAQEHNISASQVNACHVAESAVNYSLGDEQGFCGSPWPNCNFPEYFTYSVLLSLLACSVFLQISCIGKLVLMLAIELIYVLIVEVPGVTLFDNADLLVTANAIDFFNNGTSQCPEHATKVALKVVTPIIISVFVLALYLHAQQVESTARLDFLWKLQATEEKEEMEELQAYNRRLLHNILPKDVAAHFLARERRNDELYYQSCECVAVMFASIANFSEFYVELEANNEGVECLRLLNEIIADFDEIISEDRFRQLEKIKTIGSTYMAASGLNDSTYDKVGKTHIKALADFAMKLMDQMKYINEHSFNNFQMKIGLNIGPVVAGVIGARKPQYDIWGNTVNVASRMDSTGVPDRIQVTTDMYQVLAANTYQLECRGVVKVKGKGEMMTYFLNGGPPLS
uniprot
proteins
disease_involvement
DISEASE: Dyskinesia with orofacial involvement, autosomal recessive (DSKOR) [MIM:619647]: An autosomal recessive disorder characterized by abnormal involuntary movements mainly affecting the limbs and causing walking difficulties, oro-facial dyskinesia, and speech delay. Some patients develop neuropsychiatric features. Cardiomyopathy has rarely been described and may be a manifestation of the disorder. {ECO:0000269|PubMed:28971144, ECO:0000269|PubMed:30975617, ECO:0000269|PubMed:33704598}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Dyskinesia with orofacial involvement, autosomal dominant (DSKOD) [MIM:606703]: A disorder characterized by predominantly perioral and periorbital myokymia, and face, neck and upper limb dystonic/choreic movements. Initially paroxysmal and worsened by stress, the dyskinetic episodes become nearly constant by the end of the third decade of life, but in some individuals, they may diminish in frequency and severity at older ages. {ECO:0000269|PubMed:22782511, ECO:0000269|PubMed:24700542, ECO:0000269|PubMed:26085604}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD) [MIM:619651]: An autosomal recessive disorder characterized by severe global developmental delay, axial hypotonia, impaired intellectual development, poor overall growth, and abnormal involuntary hyperkinetic movements. {ECO:0000269|PubMed:34631954}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
4.6.1.1
uniprot
proteins
function
FUNCTION: Catalyzes the formation of the signaling molecule cAMP in response to G protein signaling (PubMed:15385642, PubMed:24700542, PubMed:26206488). Mediates signaling downstream of ADRB1 (PubMed:24700542). Regulates the increase of free cytosolic Ca(2+) in response to increased blood glucose levels and contributes to the regulation of Ca(2+)-dependent insulin secretion (PubMed:24740569). {ECO:0000269|PubMed:15385642, ECO:0000269|PubMed:24700542, ECO:0000269|PubMed:24740569, ECO:0000269|PubMed:26206488}.
uniprot
proteins
mass_dalton
138908
uniprot
proteins
post_translational_modification
PTM: Phosphorylated by RAF1. {ECO:0000269|PubMed:15385642}.
uniprot
proteins
protein_family
Adenylyl cyclase class-4/guanylyl cyclase family
uniprot
proteins
pubmed
10481931
uniprot
proteins
pubmed
12503609
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15385642
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
22782511
uniprot
proteins
pubmed
24700542
uniprot
proteins
pubmed
24740569
uniprot
proteins
pubmed
26085604
uniprot
proteins
pubmed
26206488
uniprot
proteins
pubmed
28971144
uniprot
proteins
pubmed
30975617
uniprot
proteins
pubmed
33704598
uniprot
proteins
pubmed
34631954
uniprot
proteins
sequence_length
1261
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305|PubMed:15385642, ECO:0000305|PubMed:26206488}; Multi-pass membrane protein. Cell projection, cilium {ECO:0000250|UniProtKB:P84309}.
uniprot
proteins
transmembrane_region
TRANSMEM 196..216; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 242..262; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 268..288; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 299..319; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 325..345; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 374..394; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 770..790; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 792..812; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 836..856; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 910..930; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 935..955; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 984..1004; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins