ADCY5

Also known as AC5, FDFM, adenylate cyclase 5, DSKOD

Adenylyl cyclase type 5 is an enzyme that in humans is encoded by the ADCY5 gene.

Gene data

ADCY5

Name: adenylate cyclase 5
Type: protein-coding
Position: 123,282,296–123,449,795 (−)
Aliases: AC5, DSKOD, FDFM
Ensembl: ENSG00000173175
RefSeq RNA: NM_001199642.1, NM_001378259.1, NM_183357.3, XM_005247078.1, XM_006713483.2
RefSeq protein: NP_001186571.1, NP_001365188.1, NP_899200.1, XP_005247135.1, XP_006713546.1

This gene encodes a member of the membrane-bound adenylyl cyclase enzymes. Adenylyl cyclases mediate G protein-coupled receptor signaling through the synthesis of the second messenger cAMP. Activity of the encoded protein is stimulated by the Gs alpha subunit of G protein-coupled receptors and is inhibited by protein kinase A, calcium and Gi alpha subunits. Single nucleotide polymorphisms in this gene may be associated with low birth weight and type 2 diabetes. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010].

Pathways

via MyGene.info

Gene · Ensembl

adenylate cyclase 5

Symbol: ADCY5
Biotype: Protein coding
Organism: Homo sapiens
Location: 3:123,282,296-123,449,795
Strand: Reverse (−)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

~8 min read

Encyclopedic overview

13 sections

Contents

Structure
Function
Interactions
Clinical significance
Mixed movement disorders
Symptoms and diagnosis
Genetics
Pathophysiology
Treatment
Other clinical implications
References
External links
Further reading

Adenylyl cyclase type 5 is an enzyme that in humans is encoded by the ADCY5 gene.

The human ADCY5 gene is located on the long arm of chromosome 3 and codes for the enzyme Adenylyl Cyclase 5 (AC5). This membrane protein has catalytic activity to convert adenosine triphosphate (ATP) into cyclic adenosine monophosphate (cAMP). In the brain, this enzyme is highly expressed in medium spiny neurons (MSNs) in the striatum. It is also found in non-neuronal cells such as cardiomyocytes and pancreatic islets. AC5 plays a role in several physiological processes including the modulation of neuronal activity particularly in the striatum, thus variants in ADCY5 gene typically lead to movement disorders.

Excerpted from Wikipedia’s “ADCY5” article, available under the CC BY-SA 4.0 licence.