Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta

UniProt P35913 Organism Homo sapiens Gene PDE6B, PDEB EC 3.1.4.35

Also known as: PDE6B, PDEB

Function

Catalytic beta subunit of the rod-specific cGMP phosphodiesterase (PDE6) complex, which hydrolyzes 3',5'-cyclic GMP in the phototransduction cascade. The PDE6 holoenzyme consists of two catalytic subunits (PDE6A and PDE6B) and two inhibitory gamma subunits (PDE6G). Light-activated GNAT1 relieves gamma subunit-mediated inhibition, enabling the catalytic subunits to hydrolyze cGMP and thereby mediate visual signal transduction and amplification. Decreased cytosolic cGMP levels result in closure of cGMP-gated cation channels at the plasma membrane, leading to rod photoreceptor hyperpolarization (Probable). Involved in retinal circadian rhythm photoentrainment via modulation of UVA and orange light-induced phase-shift of the retina clock (By similarity).

Classification

Family (Pfam): PF01590 GAF, PF00233 PDEase_I
InterPro: GAF, GAF-like_dom_sf, HD/PDEase_dom, PDEase, PDEase_catalytic_dom, PDEase_catalytic_dom_sf, PDEase_CS
Functional cluster: Oxidoreductases, Catalases & Peroxidases

Gene Ontology · 12

Disease associations

congenital stationary night blindness autosomal dominant 2 MONDO:0008099
retinitis pigmentosa 40 MONDO:0013429

Drugs targeting this protein · 2

PENTOXIFYLLINE inhibitor
DIPYRIDAMOLE inhibitor

Related proteins · sequence + function similarity

Co-cited proteins · studied together in the literature

Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha 1 shared papers
Peripherin-2 1 shared papers
Oxygen-regulated protein 1 1 shared papers
Neural retina-specific leucine zipper protein 1 shared papers
Rhodopsin 1 shared papers
Usherin 1 shared papers
Protein XRP2 1 shared papers
Protein crumbs homolog 1 1 shared papers
Retinoid isomerohydrolase 1 shared papers

Literature · 20 cited papers

Novel mutations in PDE6B causing human retinitis pigmentosa. Int. J. Ophthalmol. · 2016
Next-generation genetic testing for retinitis pigmentosa. Hum. Mutat. · 2012
Rod phosphodiesterase-6 PDE6A and PDE6B subunits are enzymatically equivalent. J. Biol. Chem. · 2010
Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature · 2005
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. · 2004
Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat. Genet. · 2004
A novel homozygous Ile535Asn mutation in the rod cGMP phosphodiesterase beta-subunit gene in two brothers of a Japanese family with autosomal recessive retinitis pigmentosa. Curr. Eye Res. · 1998
Identification of a novel R552Q mutation in exon 13 of the beta-subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa. Hum. Mutat. · 1996
Organization of the gene for the beta-subunit of human photoreceptor cyclic GMP phosphodiesterase. Bioorg. Khim. · 1996
Screening of the PDE6B gene in patients with autosomal dominant retinitis pigmentosa. Exp. Eye Res. · 1996
Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa. Genomics · 1995
A novel mutation in exon 17 of the beta-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family. Hum. Genet. · 1996
… and 8 more in the literature graph

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