PDE6A

Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha is an enzyme that in humans is encoded by the PDE6A gene.^[5][6][7]

AliasesPDE6A, CGPR-A, PDEA, RP43, phosphodiesterase 6A

External IDsOMIM: 180071; MGI: 97524; HomoloGene: 380; GeneCards: PDE6A; OMA:PDE6A - orthologs

EC number3.1.4.35

Chr.Chromosome 5 (human)^[1]

Quick facts Identifiers, Aliases ...

PDE6A
Identifiers
Aliases	PDE6A, CGPR-A, PDEA, RP43, phosphodiesterase 6A
External IDs	OMIM: 180071; MGI: 97524; HomoloGene: 380; GeneCards: PDE6A; OMA:PDE6A - orthologs
EC number	3.1.4.35
Gene location (Human) Chr. Chromosome 5 (human)[1] Band 5q32 Start 149,857,953 bp[1] End 149,944,793 bp[1]
Gene location (Mouse) Chr. Chromosome 18 (mouse)[2] Band 18 E1|18 34.41 cM Start 61,353,387 bp[2] End 61,422,995 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in corpus epididymis tail of epididymis mucosa of transverse colon mucosa of sigmoid colon rectum right adrenal cortex left testis right testis pituitary gland anterior pituitary Top expressed in neural layer of retina retinal pigment epithelium epithelium of lens Ileal epithelium secondary oocyte spermatocyte zygote right kidney outer nuclear layer human kidney More reference expression data BioGPS More reference expression data
Gene ontology Molecular function phosphoric diester hydrolase activity 3',5'-cyclic-GMP phosphodiesterase activity hydrolase activity 3',5'-cyclic-nucleotide phosphodiesterase activity metal ion binding Cellular component membrane plasma membrane photoreceptor disc membrane Biological process response to stimulus GMP metabolic process regulation of cytosolic calcium ion concentration visual perception signal transduction regulation of rhodopsin mediated signaling pathway G protein-coupled receptor signaling pathway rhodopsin mediated signaling pathway retina development in camera-type eye Wnt signaling pathway, calcium modulating pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5145 225600 Ensembl ENSG00000132915 ENSMUSG00000024575 UniProt P16499 P27664 RefSeq (mRNA) NM_000440 NM_146086 RefSeq (protein) NP_000431 n/a Location (UCSC) Chr 5: 149.86 – 149.94 Mb Chr 18: 61.35 – 61.42 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Close

PDE6A encodes the cyclic-GMP (cGMP) specific phosphodiesterase 6A alpha subunit, expressed in cells of the retinal rod outer segment. The phosphodiesterase 6 holoenzyme is a heterotrimer composed of an alpha, beta, and two gamma subunits. cGMP is an important regulator of rod cell membrane current, and its dynamic concentration is established by phosphodiesterase 6A cGMP hydrolysis and guanylate cyclase cGMP synthesis. Mutations in PDE6A have been identified as one cause of autosomal recessive retinitis pigmentosa.^[6]