Human Gene ADCY5 (ENST00000462833.5) Description and Page Index
Description: Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA. (from RefSeq NM_183357) RefSeq Summary (NM_183357): 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]. Gencode Transcript: ENST00000462833.5 Gencode Gene: ENSG00000173175.14 Transcript (Including UTRs) Position: hg38 chr3:123,282,296-123,449,758 Size: 167,463 Total Exon Count: 21 Strand: - Coding Region Position: hg38 chr3:123,284,608-123,448,545 Size: 163,938 Coding Exon Count: 21
ID:ADCY5_HUMAN DESCRIPTION: RecName: Full=Adenylate cyclase type 5; EC=18.104.22.168; AltName: Full=ATP pyrophosphate-lyase 5; AltName: Full=Adenylate cyclase type V; AltName: Full=Adenylyl cyclase 5; FUNCTION: This is a membrane-bound, calcium-inhibitable adenylyl cyclase. CATALYTIC ACTIVITY: ATP = 3',5'-cyclic AMP + diphosphate. COFACTOR: Binds 2 magnesium ions per subunit (By similarity). ENZYME REGULATION: Inhibition by calcium in the submicromolar concentration range (By similarity). Phosphorylation by RAF1 results in its activation. SUBUNIT: Part of a complex containing AKAP5, ADCY6, PDE4C and PKD2 (By similarity). Interacts with RAF1. SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. Cell projection, cilium (By similarity). PTM: Phosphorylated by RAF1. DISEASE: Defects in ADCY5 are the cause of dyskinesia, familial, with facial myokymia (FDFM) [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. SIMILARITY: Belongs to the adenylyl cyclase class-4/guanylyl cyclase family. SIMILARITY: Contains 2 guanylate cyclase domains.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF06327 - Domain of Unknown Function (DUF1053) PF00211 - Adenylate and Guanylate cyclase catalytic domain
ModBase Predicted Comparative 3D Structure on O95622
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.