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FLASH GENE

Symbol

ADCY6

contributors: mct - updated : 14-10-2014

HGNC name	adenylate cyclase 6
HGNC id	237

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_015270 21 - 6583 NP_056085 130 1168 highly in hyperfunctioning thyroid tumor 1994 8034296 ADCY6 variant 1 NM_020983 - - 5877 NP_066193 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)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine large intestine colon   highly Endocrine thyroid         Nervous brain         Respiratory respiratory tract larynx     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone     highly Epithelial secretory glandular endocrine

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