CNCG_HUMAN
ID CNCG_HUMAN Reviewed; 83 AA.
AC Q13956; Q52LY7;
DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1996, sequence version 1.
DT 03-AUG-2022, entry version 165.
DE RecName: Full=Retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma;
DE Short=GMP-PDE gamma;
DE EC=3.1.4.35;
GN Name=PDE6H;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Retina;
RX PubMed=8786098; DOI=10.1006/geno.1996.0085;
RA Shimizu-Matsumoto A., Itoh K., Inazawa J., Nishida K., Matsumoto Y.,
RA Kinoshita S., Matsubara K., Okubo K.;
RT "Isolation and chromosomal localization of the human cone cGMP
RT phosphodiesterase gamma cDNA (PDE6H).";
RL Genomics 32:121-124(1996).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP INVOLVEMENT IN RCD3A.
RX PubMed=15629837; DOI=10.1016/j.ophtha.2004.07.011;
RA Piri N., Gao Y.Q., Danciger M., Mendoza E., Fishman G.A., Farber D.B.;
RT "A substitution of G to C in the cone cGMP-phosphodiesterase gamma subunit
RT gene found in a distinctive form of cone dystrophy.";
RL Ophthalmology 112:159-166(2005).
CC -!- FUNCTION: Participates in processes of transmission and amplification
CC of the visual signal. cGMP-PDEs are the effector molecules in G-
CC protein-mediated phototransduction in vertebrate rods and cones.
CC -!- CATALYTIC ACTIVITY:
CC Reaction=3',5'-cyclic GMP + H2O = GMP + H(+); Xref=Rhea:RHEA:16957,
CC ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:57746,
CC ChEBI:CHEBI:58115; EC=3.1.4.35;
CC -!- SUBUNIT: Tetramer composed of two catalytic chains (alpha and beta),
CC and two inhibitory chains (gamma).
CC -!- INTERACTION:
CC Q13956; Q6NUP5: AGTR1; NbExp=3; IntAct=EBI-10231995, EBI-10232010;
CC Q13956; P28329-3: CHAT; NbExp=3; IntAct=EBI-10231995, EBI-25837549;
CC Q13956; Q14019: COTL1; NbExp=3; IntAct=EBI-10231995, EBI-79926;
CC Q13956; P22607: FGFR3; NbExp=3; IntAct=EBI-10231995, EBI-348399;
CC Q13956; P78424: POU6F2; NbExp=3; IntAct=EBI-10231995, EBI-12029004;
CC Q13956; O43741: PRKAB2; NbExp=3; IntAct=EBI-10231995, EBI-1053424;
CC Q13956; Q9UMX0: UBQLN1; NbExp=3; IntAct=EBI-10231995, EBI-741480;
CC -!- DOMAIN: The C-terminal region is important in conferring inhibition.
CC {ECO:0000250}.
CC -!- DISEASE: Cone dystrophy, retinal 3A (RCD3A) [MIM:610024]: A rare form
CC of cone dystrophy associated with supernormal rod responses. The
CC disorder is characterized by reduced visual acuity, photoaversion,
CC night blindness, and abnormal color vision. At an early age, the retina
CC shows subtle depigmentation at the macula and, later, more obvious
CC areas of atrophy. {ECO:0000269|PubMed:15629837}. Note=The disease is
CC caused by variants affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the rod/cone cGMP-PDE gamma subunit family.
CC {ECO:0000305}.
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DR EMBL; D45399; BAA08241.1; -; mRNA.
DR EMBL; BC069774; AAH69774.1; -; mRNA.
DR EMBL; BC069800; AAH69800.1; -; mRNA.
DR EMBL; BC093738; AAH93738.1; -; mRNA.
DR EMBL; BC093740; AAH93740.1; -; mRNA.
DR CCDS; CCDS8672.1; -.
DR RefSeq; NP_006196.1; NM_006205.2.
DR RefSeq; XP_016874920.1; XM_017019431.1.
DR AlphaFoldDB; Q13956; -.
DR SMR; Q13956; -.
DR BioGRID; 111175; 8.
DR IntAct; Q13956; 9.
DR STRING; 9606.ENSP00000266395; -.
DR BindingDB; Q13956; -.
DR ChEMBL; CHEMBL2097163; -.
DR ChEMBL; CHEMBL2363066; -.
DR DrugBank; DB00203; Sildenafil.
DR DrugBank; DB00862; Vardenafil.
DR DrugCentral; Q13956; -.
DR iPTMnet; Q13956; -.
DR PhosphoSitePlus; Q13956; -.
DR BioMuta; PDE6H; -.
DR DMDM; 2833249; -.
DR PaxDb; Q13956; -.
DR PRIDE; Q13956; -.
DR Antibodypedia; 23709; 72 antibodies from 17 providers.
DR DNASU; 5149; -.
DR Ensembl; ENST00000266395.3; ENSP00000266395.2; ENSG00000139053.3.
DR GeneID; 5149; -.
DR KEGG; hsa:5149; -.
DR MANE-Select; ENST00000266395.3; ENSP00000266395.2; NM_006205.3; NP_006196.1.
DR UCSC; uc001rcr.5; human.
DR CTD; 5149; -.
DR DisGeNET; 5149; -.
DR GeneCards; PDE6H; -.
DR GeneReviews; PDE6H; -.
DR HGNC; HGNC:8790; PDE6H.
DR HPA; ENSG00000139053; Tissue enriched (retina).
DR MalaCards; PDE6H; -.
DR MIM; 601190; gene.
DR MIM; 610024; phenotype.
DR neXtProt; NX_Q13956; -.
DR OpenTargets; ENSG00000139053; -.
DR Orphanet; 49382; Achromatopsia.
DR PharmGKB; PA33138; -.
DR VEuPathDB; HostDB:ENSG00000139053; -.
DR eggNOG; ENOG502S4P1; Eukaryota.
DR GeneTree; ENSGT00390000013260; -.
DR HOGENOM; CLU_170469_0_0_1; -.
DR OMA; QFKRNFG; -.
DR OrthoDB; 1574918at2759; -.
DR PhylomeDB; Q13956; -.
DR TreeFam; TF333297; -.
DR PathwayCommons; Q13956; -.
DR SignaLink; Q13956; -.
DR BioGRID-ORCS; 5149; 47 hits in 1059 CRISPR screens.
DR GenomeRNAi; 5149; -.
DR Pharos; Q13956; Tclin.
DR PRO; PR:Q13956; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q13956; protein.
DR Bgee; ENSG00000139053; Expressed in monocyte and 56 other tissues.
DR Genevisible; Q13956; HS.
DR GO; GO:0042622; C:photoreceptor outer segment membrane; IBA:GO_Central.
DR GO; GO:0047555; F:3',5'-cyclic-GMP phosphodiesterase activity; IEA:UniProtKB-EC.
DR GO; GO:0030553; F:cGMP binding; IEA:InterPro.
DR GO; GO:0004857; F:enzyme inhibitor activity; TAS:ProtInc.
DR GO; GO:0045742; P:positive regulation of epidermal growth factor receptor signaling pathway; IBA:GO_Central.
DR GO; GO:0045745; P:positive regulation of G protein-coupled receptor signaling pathway; IBA:GO_Central.
DR GO; GO:0043410; P:positive regulation of MAPK cascade; IEA:Ensembl.
DR GO; GO:0050896; P:response to stimulus; IEA:UniProtKB-KW.
DR GO; GO:0007601; P:visual perception; TAS:ProtInc.
DR Gene3D; 4.10.1120.10; -; 1.
DR InterPro; IPR006952; PDE6_gamma.
DR InterPro; IPR037030; PDE6_gamma_sf.
DR PANTHER; PTHR12122; PTHR12122; 1.
DR Pfam; PF04868; PDE6_gamma; 1.
DR PIRSF; PIRSF000969; 35-cGMP_Pdiase_g; 1.
PE 1: Evidence at protein level;
KW cGMP; Hydrolase; Reference proteome; Sensory transduction; Vision.
FT CHAIN 1..83
FT /note="Retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic
FT phosphodiesterase subunit gamma"
FT /id="PRO_0000166120"
FT REGION 1..51
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1..19
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 25..39
FT /note="Basic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 83 AA; 9074 MW; 7A8944DC0550BA45 CRC64;
MSDNTTLPAP ASNQGPTTPR KGPPKFKQRQ TRQFKSKPPK KGVKGFGDDI PGMEGLGTDI
TVICPWEAFS HLELHELAQF GII
