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Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma (GMP-PDE gamma) (EC 3.1.4.35)

 CNRG_HUMAN              Reviewed;          87 AA.
P18545; Q3KP63; Q7Z3U8;
01-NOV-1990, integrated into UniProtKB/Swiss-Prot.
01-NOV-1990, sequence version 1.
22-NOV-2017, entry version 157.
RecName: Full=Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma;
Short=GMP-PDE gamma;
EC=3.1.4.35;
Name=PDE6G; Synonyms=PDEG;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Retina;
PubMed=2161380; DOI=10.1016/0378-1119(90)90035-P;
Tuteja N., Danciger M., Klisak I., Tuteja R., Inana G., Mohandas T.,
Sparkes R.S., Farber D.B.;
"Isolation and characterization of cDNA encoding the gamma-subunit of
cGMP phosphodiesterase in human retina.";
Gene 88:227-232(1990).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
TISSUE=Retina;
PubMed=1965799;
Piriyev N.I., Purishko V.A., Khramtsov N.V., Lipkin V.M.;
"The organization of the gamma-subunit gene of human photoreceptor
cyclic GMP phosphodiesterase.";
Dokl. Akad. Nauk SSSR 315:229-231(1990).
[3]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT HIS-27.
PubMed=8125719;
Hahn L.B., Berson E.L., Dryja T.P.;
"Evaluation of the gene encoding the gamma subunit of rod
phosphodiesterase in retinitis pigmentosa.";
Invest. Ophthalmol. Vis. Sci. 35:1077-1082(1994).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Retina;
PubMed=17974005; DOI=10.1186/1471-2164-8-399;
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
"The full-ORF clone resource of the German cDNA consortium.";
BMC Genomics 8:399-399(2007).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[7]
INVOLVEMENT IN RP57.
PubMed=20655036; DOI=10.1016/j.ajhg.2010.06.016;
Dvir L., Srour G., Abu-Ras R., Miller B., Shalev S.A., Ben-Yosef T.;
"Autosomal-recessive early-onset retinitis pigmentosa caused by a
mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP
phosphodiesterase.";
Am. J. Hum. Genet. 87:258-264(2010).
-!- 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.
-!- INTERACTION:
O14503:BHLHE40; NbExp=3; IntAct=EBI-2622029, EBI-711810;
Q8R511:Fnbp1 (xeno); NbExp=2; IntAct=EBI-2622029, EBI-1111424;
P62994:Grb2 (xeno); NbExp=2; IntAct=EBI-2622029, EBI-401775;
Q96JM7:L3MBTL3; NbExp=3; IntAct=EBI-2622029, EBI-2686809;
Q9QY17:Pacsin2 (xeno); NbExp=4; IntAct=EBI-2622029, EBI-491201;
Q63787:Pik3r1 (xeno); NbExp=2; IntAct=EBI-2622029, EBI-518443;
-!- DISEASE: Retinitis pigmentosa 57 (RP57) [MIM:613582]: 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. {ECO:0000269|PubMed:20655036}. Note=The disease is
caused by mutations affecting the gene represented in this entry.
-!- SIMILARITY: Belongs to the rod/cone cGMP-PDE gamma subunit family.
{ECO:0000305}.
-!- SEQUENCE CAUTION:
Sequence=CAD97656.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
Sequence=EAW89666.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
-!- 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";
-----------------------------------------------------------------------
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EMBL; M36476; AAA60044.1; -; mRNA.
EMBL; X62025; CAA43975.1; -; Genomic_DNA.
EMBL; U00482; AAA03653.1; -; Genomic_DNA.
EMBL; U00481; AAA03653.1; JOINED; Genomic_DNA.
EMBL; BX537414; CAD97656.1; ALT_INIT; mRNA.
EMBL; CH471099; EAW89666.1; ALT_INIT; Genomic_DNA.
EMBL; BC106884; AAI06885.1; -; mRNA.
CCDS; CCDS11783.1; -.
PIR; JH0142; JH0142.
RefSeq; NP_002593.1; NM_002602.3.
RefSeq; XP_006722005.1; XM_006721942.3.
RefSeq; XP_016880224.1; XM_017024735.1.
RefSeq; XP_016880225.1; XM_017024736.1.
UniGene; Hs.654482; -.
PDB; 3JWR; X-ray; 2.99 A; C/D=70-87.
PDBsum; 3JWR; -.
ProteinModelPortal; P18545; -.
SMR; P18545; -.
BioGrid; 111174; 6.
IntAct; P18545; 9.
MINT; MINT-4719843; -.
STRING; 9606.ENSP00000328412; -.
BindingDB; P18545; -.
ChEMBL; CHEMBL2363066; -.
DrugBank; DB07954; 3-isobutyl-1-methyl-7H-xanthine.
DrugBank; DB00203; Sildenafil.
DrugBank; DB00862; Vardenafil.
iPTMnet; P18545; -.
PhosphoSitePlus; P18545; -.
BioMuta; PDE6G; -.
DMDM; 116583; -.
PaxDb; P18545; -.
PeptideAtlas; P18545; -.
PRIDE; P18545; -.
DNASU; 5148; -.
Ensembl; ENST00000331056; ENSP00000328412; ENSG00000185527.
Ensembl; ENST00000571004; ENSP00000461464; ENSG00000185527.
Ensembl; ENST00000571224; ENSP00000458167; ENSG00000185527.
GeneID; 5148; -.
KEGG; hsa:5148; -.
UCSC; uc002kay.4; human.
CTD; 5148; -.
DisGeNET; 5148; -.
EuPathDB; HostDB:ENSG00000185527.11; -.
GeneCards; PDE6G; -.
GeneReviews; PDE6G; -.
HGNC; HGNC:8789; PDE6G.
MalaCards; PDE6G; -.
MIM; 180073; gene.
MIM; 613582; phenotype.
neXtProt; NX_P18545; -.
OpenTargets; ENSG00000185527; -.
Orphanet; 791; Retinitis pigmentosa.
PharmGKB; PA33137; -.
eggNOG; ENOG410IZA8; Eukaryota.
eggNOG; ENOG410YN07; LUCA.
GeneTree; ENSGT00390000013260; -.
HOGENOM; HOG000261673; -.
HOVERGEN; HBG000447; -.
KO; K13759; -.
PhylomeDB; P18545; -.
TreeFam; TF333297; -.
Reactome; R-HSA-2485179; Activation of the phototransduction cascade.
Reactome; R-HSA-2514859; Inactivation, recovery and regulation of the phototransduction cascade.
Reactome; R-HSA-4086398; Ca2+ pathway.
SignaLink; P18545; -.
SIGNOR; P18545; -.
EvolutionaryTrace; P18545; -.
GeneWiki; PDE6G; -.
GenomeRNAi; 5148; -.
PRO; PR:P18545; -.
Proteomes; UP000005640; Chromosome 17.
Bgee; ENSG00000185527; -.
CleanEx; HS_PDE6G; -.
ExpressionAtlas; P18545; baseline and differential.
Genevisible; P18545; HS.
GO; GO:0097381; C:photoreceptor disc membrane; TAS:Reactome.
GO; GO:0005886; C:plasma membrane; TAS:Reactome.
GO; GO:0047555; F:3',5'-cyclic-GMP phosphodiesterase activity; IEA:UniProtKB-EC.
GO; GO:0030553; F:cGMP binding; IEA:InterPro.
GO; GO:0004857; F:enzyme inhibitor activity; TAS:ProtInc.
GO; GO:0030507; F:spectrin binding; IEA:Ensembl.
GO; GO:0000187; P:activation of MAPK activity; IEA:Ensembl.
GO; GO:0045742; P:positive regulation of epidermal growth factor receptor signaling pathway; IEA:Ensembl.
GO; GO:0045745; P:positive regulation of G-protein coupled receptor protein signaling pathway; IEA:Ensembl.
GO; GO:0022400; P:regulation of rhodopsin mediated signaling pathway; TAS:Reactome.
GO; GO:0016056; P:rhodopsin mediated signaling pathway; TAS:Reactome.
GO; GO:0007601; P:visual perception; TAS:ProtInc.
GO; GO:0007223; P:Wnt signaling pathway, calcium modulating pathway; TAS:Reactome.
Gene3D; 4.10.1120.10; -; 1.
InterPro; IPR006952; PDE6_gamma.
InterPro; IPR037030; PDE6_gamma_sf.
PANTHER; PTHR12122; PTHR12122; 1.
Pfam; PF04868; PDE6_gamma; 1.
PIRSF; PIRSF000969; 35-cGMP_Pdiase_g; 1.
1: Evidence at protein level;
3D-structure; Acetylation; cGMP; Complete proteome; Hydrolase;
Polymorphism; Reference proteome; Retinitis pigmentosa;
Sensory transduction; Vision.
CHAIN 1 87 Retinal rod rhodopsin-sensitive cGMP
3',5'-cyclic phosphodiesterase subunit
gamma.
/FTId=PRO_0000166117.
COMPBIAS 24 45 Arg/Lys-rich (basic).
MOD_RES 1 1 N-acetylmethionine.
{ECO:0000250|UniProtKB:P04972}.
VARIANT 27 27 P -> H. {ECO:0000269|PubMed:8125719}.
/FTId=VAR_009294.
TURN 75 77 {ECO:0000244|PDB:3JWR}.
HELIX 78 83 {ECO:0000244|PDB:3JWR}.
SEQUENCE 87 AA; 9643 MW; 5D7DEE59D7DDB9E0 CRC64;
MNLEPPKAEF RSATRVAGGP VTPRKGPPKF KQRQTRQFKS KPPKKGVQGF GDDIPGMEGL
GTDITVICPW EAFNHLELHE LAQYGII


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