Description: Homo sapiens phosphodiesterase 6G, cGMP-specific, rod, gamma (PDE6G), transcript variant 1, mRNA. RefSeq Summary (NM_002602): This gene encodes the gamma subunit of cyclic GMP-phosphodiesterase, which is composed of alpha- and beta- catalytic subunits and two identical, inhibitory gamma subunits. This gene is expressed in rod photoreceptors and functions in the phototransduction signaling cascade. It is also expressed in a variety of other tissues, and has been shown to regulate the c-Src protein kinase and G-protein-coupled receptor kinase 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009]. Transcript (Including UTRs) Position: hg19 chr17:79,617,489-79,623,607 Size: 6,119 Total Exon Count: 4 Strand: - Coding Region Position: hg19 chr17:79,618,104-79,620,335 Size: 2,232 Coding Exon Count: 3
ID:CNRG_HUMAN DESCRIPTION: RecName: Full=Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma; Short=GMP-PDE gamma; EC=3.1.4.35; FUNCTION: Participates in processes of transmission and amplification of the visual signal. cGMP-PDEs are the effector molecules in G-protein-mediated phototransduction in vertebrate rods and cones. CATALYTIC ACTIVITY: Guanosine 3',5'-cyclic phosphate + H(2)O = guanosine 5'-phosphate. SUBUNIT: Oligomer composed of two catalytic chains (alpha and beta), an inhibitory chain (gamma) and the delta chain. DISEASE: Defects in PDE6G are the cause of retinitis pigmentosa type 57 (RP57) [MIM:613582]. RP57 is a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. SIMILARITY: Belongs to the rod/cone cGMP-PDE gamma subunit family. SEQUENCE CAUTION: Sequence=CAD97656.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=EAW89666.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; WEB RESOURCE: Name=Mutations of the PDE6A/B/G genes; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/pdemut.htm";
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.
ModBase Predicted Comparative 3D Structure on P18545
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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.