ADCY1

Protein identityUniProt · HPA

UniProt accession

Q08828

Gene

ADCY1

Ensembl

ENSG00000164742

Chromosome

7

Canonical length

1119 aa

Protein class

Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Mitochondria

OverviewNCBI 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 transcript variants. [provided by RefSeq, Aug 2013]

Canonical amino-acid sequenceUniProt

1119 residues, UniProt reviewed canonical sequence.

>Q08828|ADCY1
     1  MAGAPRGGGG GGGGAGEPGG AERAAGTSRR RGLRACDEEF ACPELEALFR GYTLRLEQAA
    61  TLKALAVLSL LAGALALAEL LGAPGPAPGL AKGSHPVHCV LFLALLVVTN VRSLQVPQLQ
   121  QVGQLALLFS LTFALLCCPF ALGGPARGSA GAAGGPATAE QGVWQLLLVT FVSYALLPVR
   181  SLLAIGFGLV VAASHLLVTA TLVPAKRPRL WRTLGANALL FVGVNMYGVF VRILTERSQR
   241  KAFLQARSCI EDRLRLEDEN EKQERLLMSL LPRNVAMEMK EDFLKPPERI FHKIYIQRHD
   301  NVSILFADIV GFTGLASQCT AQELVKLLNE LFGKFDELAT ENHCRRIKIL GDCYYCVSGL
   361  TQPKTDHAHC CVEMGLDMID TITSVAEATE VDLNMRVGLH TGRVLCGVLG LRKWQYDVWS
   421  NDVTLANVME AAGLPGKVHI TKTTLACLNG DYEVEPGYGH ERNSFLKTHN IETFFIVPSH
   481  RRKIFPGLIL SDIKPAKRMK FKTVCYLLVQ LMHCRKMFKA EIPFSNVMTC EDDDKRRALR
   541  TASEKLRNRS SFSTNVVYTT PGTRVNRYIS RLLEARQTEL EMADLNFFTL KYKHVEREQK
   601  YHQLQDEYFT SAVVLTLILA ALFGLVYLLI FPQSVVVLLL LVFCICFLVA CVLYLHITRV
   661  QCFPGCLTIQ IRTVLCIFIV VLIYSVAQGC VVGCLPWAWS SKPNSSLVVL SSGGQRTALP
   721  TLPCESTHHA LLCCLVGTLP LAIFFRVSSL PKMILLSGLT TSYILVLELS GYTRTGGGAV
   781  SGRSYEPIVA ILLFSCALAL HARQVDIRLR LDYLWAAQAE EEREDMEKVK LDNRRILFNL
   841  LPAHVAQHFL MSNPRNMDLY YQSYSQVGVM FASIPNFNDF YIELDGNNMG VECLRLLNEI
   901  IADFDELMEK DFYKDIEKIK TIGSTYMAAV GLAPTSGTKA KKSISSHLST LADFAIEMFD
   961  VLDEINYQSY NDFVLRVGIN VGPVVAGVIG ARRPQYDIWG NTVNVASRMD STGVQGRIQV
  1021  TEEVHRLLRR CPYHFVCRGK VSVKGKGEML TYFLEGRTDG NGSQIRSLGL DRKMCPFGRA
  1081  GLQGRRPPVC PMPGVSVRAG LPPHSPGQYL PSAAAGKEA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ADCY1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

12

Mean surface accessibility (rSASA)

0.3

Highest tissue expression

49 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ADCY1.

Disease | AllUniProt

Conditions ADCY1 is implicated in, by any mechanism.

• Deafness, autosomal recessive, 44 (DFNB44) MIM:610154

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 400 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Autosomal recessive nonsyndromic hearing loss 44

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.27

gnomAD pLI

1

gnomAD missense Z

4.38

DepMap mean gene effect

-0.01

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• adenylate cyclase-activating G protein-coupled receptor signaling pathway
• axonogenesis
• cAMP biosynthetic process
• cellular response to calcium ion
• cellular response to forskolin
• cellular response to glucagon stimulus
• intracellular signal transduction
• long-term memory
• neuroinflammatory response
• positive regulation of CREB transcription factor activity
• positive regulation of long-term synaptic potentiation
• presynaptic modulation of chemical synaptic transmission
• regulation of circadian rhythm
• renal water homeostasis
• rhythmic process
• vascular endothelial cell response to laminar fluid shear stress

Molecular functions

• adenylate cyclase activity
• ATP binding
• calcium- and calmodulin-responsive adenylate cyclase activity
• calmodulin binding
• metal ion binding

Cellular components

• cytoplasm
• extracellular exosome
• glutamatergic synapse
• hippocampal mossy fiber to CA3 synapse
• membrane raft
• plasma membrane
• postsynaptic density membrane
• presynapse
• Schaffer collateral - CA1 synapse

Protein domainsUniProt · Pfam · InterPro

• Adenylyl cyclase class-3/4/guanylyl cyclase
• Adenylyl cyclase class-4/guanylyl cyclase, conserved site
• Nucleotide cyclase
• Adenylate cyclase
• Adenylate cyclase, N-terminal
• Adenylate and Guanylate cyclase catalytic domain
• Adenylyl cyclase N-terminal extracellular and transmembrane region

KeywordsUniProt

• ATP-binding
• Biological rhythms
• Calmodulin-binding
• cAMP biosynthesis
• Cell membrane
• Cytoplasm
• Deafness
• Glycoprotein
• Lyase
• Magnesium
• Manganese
• Membrane
• Metal-binding
• Non-syndromic deafness
• Nucleotide-binding
• Phosphoprotein
• Repeat
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of ADCY1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CALM