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FLASH GENE
Symbol ADCY6 contributors: mct - updated : 14-10-2014
HGNC name adenylate cyclase 6
HGNC id 237
Corresponding disease
LCCS8 lethal congenital contracture syndrome 8
Location 12q13.12      Physical location : 49.159.975 - 49.182.820
Synonym name
  • related to rabbit adenylate cyclase type 5, 95kDa
  • ATP pyrophosphate-lyase 6
  • Ca(2+)-inhibitable adenylyl cyclase
  • Synonym symbol(s) AC6, KIAA0422, DKFZp779F075, Ca
    EC.number 4.6.1.1
    DNA
    TYPE functioning gene
    STRUCTURE 22.85 kb     21 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC387856 12 similar to expressed sequence AI836003 LOC121275 12q13.12 similar to Olfactory receptor 10AD1 LOC341567 12q13.12 HANP1 FLJ31295 12q13.12 hypothetical protein FLJ31295 LOC390312 12 similar to olfactory receptor MOR160-1 ANP32D 12p11.1 acidic (leucine-rich) nuclear phosphoprotein 32 family, member D MGC35033 12q13.12 hypothetical protein MGC35033 LOC341568 12q13.12 similar to seven transmembrane helix receptor LOC390313 12 similar to seven transmembrane helix receptor LALBA 12q13.1 lactalbumin, alpha- LOC121270 12q13.12 similar to olfactory receptor MOR122-1 FLJ20436 12q13.12 hypothetical protein FLJ20436 CCNT1 12q13.1 cyclin T1 LOC255411 12q13.12 hypothetical LOC255411 ADCY6 12q12-q13 adenylate cyclase 6 LOC390314 12 similar to Protein C20orf27 CACNB3 12q13 calcium channel, voltage-dependent, beta 3 subunit DDX23 12q13.12 DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 RHO6 12q12-q13 DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 NYD-SP28 12q13.12 NYD-SP28 protein FKBP11 12q13.2 FK506 binding protein 11, 19 kDa ARF3 12q13.1 ADP-ribosylation factor 3 WNT10B 12q13.1 wingless-type MMTV integration site family, member 10B WNT1 12q13 wingless-type MMTV integration site family, member 1 DDN 12q13.12 dendrin PRKAG1 12q12-q14 protein kinase, AMP-activated, gamma 1 non-catalytic subunit MLL2 12q12-q13 myeloid/lymphoid or mixed-lineage leukemia 2 RHEBL1 12q13.12 Ras homolog enriched in brain like 1 DHH 12q12-q13.1 desert hedgehog homolog (Drosophila) LIMR 12q13.12 lipocalin-interacting membrane receptor K-ALPHA-1 12q12-q14.3 lipocalin-interacting membrane receptor TUBA3 12q12-12q14.3 lipocalin-interacting membrane receptor TUBA6 12q12-q14 tubulin alpha 6
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    21 - 6583 130 1168 highly in hyperfunctioning thyroid tumor 1994 8034296
  • ADCY6 variant 1
  • - - 5877 124 1115 - 1994 8034296
  • ADCY6 variant 2
  • shorter 5'utr, lacking an in frame fragment
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon highly
    Endocrinethyroid    
    Nervousbrain    
    Respiratoryrespiratory tractlarynx  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  highly
    Epithelialsecretoryglandularendocrine 
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • six N-terminal transmembrane fragments
  • one guanylate cyclase domain
  • a DUF1053 domain
  • six C-terminal transmembrane fragments
  • one guanylate cyclase domain
  • secondary structure
    conjugated GlycoP
    HOMOLOGY
    Homologene
    FAMILY
  • adenyl cyclase class 4/guanylyl cyclase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    text integral membrane protein
    basic FUNCTION
  • adenylyl cyclase, type VI, catalyzing the formation of the secondary messenger cyclic adenosine monophosphate (cAMP)
  • critical regulator of metabolic and cardiovascular function
  • essential and so far unknown role of ADCY6 in PNS myelination likely through the cAMP pathway
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism purine/pyrimidine
    signaling signal transduction
    a component
  • ADCY5 and ADCY6 interact with-A-kinase anchoring frotein AKAP5 in a complex which associates with PRKA
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • stimulated byG protein betagamma
  • ADCY6 was physically associated with PHLPP2, which prevents PHLPP2-mediated AKT1 dephosphorylation
  • interacting with SNAPIN (interaction domains of ADCY6 and snapin were located within amino acids 1 to 86 of ADCY6 approximately and 33-51 of SNAPIN)
  • ADCY6, an enzyme which catalyzes cAMP synthesis, regulates neurite outgrowth by direct interaction with a binding protein (SNAPIN) of SNAP25 at the N terminus of ADCY6 (AC6-N)
  • the overexpression of SNAP25 completely reversed the action of ADCY6
  • repression of ADCY6 by BICC1 might explain why cysts in ADPKD patients preferentially arise from distal tubules
  • cell & other
    REGULATION
    inhibited by calcium in the submicromolar concentration range
    repressed by BICC1
    ASSOCIATED DISORDERS
    corresponding disease(s) LCCS8
    Susceptibility to greater vascular sensitivity to the beta-adrenergic agonist isoproterenol
    Variant & Polymorphism other
  • ADCY6 polymorphisms may influence sickle cell disease severity through the mechanism of sickle red cell adhesion
  • genetic variant ADCY6 S674 had significantly greater vascular sensitivity to the beta-adrenergic agonist isoproterenol
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS