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UniProtKB - P18545 (CNRG_HUMAN)
Protein
Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma
Gene
PDE6G
Organism
Homo sapiens (Human)
Status
Functioni
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 activityi
- EC:3.1.4.35
GO - Molecular functioni
- 3',5'-cyclic-GMP phosphodiesterase activity Source: UniProtKB-EC
- cGMP binding Source: InterPro
- enzyme inhibitor activity Source: ProtInc
- spectrin binding Source: Ensembl
GO - Biological processi
- positive regulation of epidermal growth factor receptor signaling pathway Source: GO_Central
- positive regulation of G protein-coupled receptor signaling pathway Source: GO_Central
- positive regulation of MAPK cascade Source: Ensembl
- response to stimulus Source: UniProtKB-KW
- visual perception Source: ProtInc
Keywordsi
Molecular function | Hydrolase |
Biological process | Sensory transduction, Vision |
Ligand | cGMP |
Enzyme and pathway databases
PathwayCommonsi | P18545 |
Reactomei | R-HSA-2485179, Activation of the phototransduction cascade R-HSA-2514859, Inactivation, recovery and regulation of the phototransduction cascade R-HSA-4086398, Ca2+ pathway |
SignaLinki | P18545 |
SIGNORi | P18545 |
Names & Taxonomyi
Protein namesi | Recommended name: Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma (EC:3.1.4.35)Short name: GMP-PDE gamma |
Gene namesi | Name:PDE6G Synonyms:PDEG |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:8789, PDE6G |
MIMi | 180073, gene |
neXtProti | NX_P18545 |
VEuPathDBi | HostDB:ENSG00000185527 |
Subcellular locationi
Plasma Membrane
- photoreceptor outer segment membrane Source: GO_Central
- plasma membrane Source: Reactome
Other locations
- photoreceptor disc membrane Source: Reactome
Pathology & Biotechi
Involvement in diseasei
Retinitis pigmentosa 57 (RP57)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMKeywords - Diseasei
Retinitis pigmentosaOrganism-specific databases
DisGeNETi | 5148 |
GeneReviewsi | PDE6G |
MalaCardsi | PDE6G |
MIMi | 613582, phenotype |
OpenTargetsi | ENSG00000185527 |
Orphaneti | 791, Retinitis pigmentosa |
PharmGKBi | PA33137 |
Miscellaneous databases
Pharosi | P18545, Tclin |
Chemistry databases
ChEMBLi | CHEMBL2097163 CHEMBL2363066 |
DrugBanki | DB07954, 3-isobutyl-1-methyl-7H-xanthine DB00203, Sildenafil DB00820, Tadalafil DB00862, Vardenafil |
DrugCentrali | P18545 |
Genetic variation databases
BioMutai | PDE6G |
DMDMi | 116583 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000166117 | 1 – 87 | Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gammaAdd BLAST | 87 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 1 | N-acetylmethionineBy similarity | 1 |
Keywords - PTMi
AcetylationProteomic databases
MassIVEi | P18545 |
PaxDbi | P18545 |
PeptideAtlasi | P18545 |
PRIDEi | P18545 |
ProteomicsDBi | 53576 |
PTM databases
iPTMneti | P18545 |
PhosphoSitePlusi | P18545 |
Expressioni
Gene expression databases
Bgeei | ENSG00000185527, Expressed in retina and 147 other tissues |
Genevisiblei | P18545, HS |
Organism-specific databases
HPAi | ENSG00000185527, Tissue enriched (retina) |
Interactioni
Subunit structurei
Oligomer composed of two catalytic chains (alpha and beta), an inhibitory chain (gamma) and the delta chain.
Binary interactionsi
P18545
GO - Molecular functioni
- spectrin binding Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 111174, 26 interactors |
IntActi | P18545, 11 interactors |
MINTi | P18545 |
STRINGi | 9606.ENSP00000328412 |
Chemistry databases
BindingDBi | P18545 |
Miscellaneous databases
RNActi | P18545, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
AlphaFoldDBi | P18545 |
SMRi | P18545 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P18545 |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 55 | DisorderedSequence analysisAdd BLAST | 55 |
Sequence similaritiesi
Belongs to the rod/cone cGMP-PDE gamma subunit family.Curated
Phylogenomic databases
eggNOGi | ENOG502S20G, Eukaryota |
GeneTreei | ENSGT00390000013260 |
HOGENOMi | CLU_170469_0_0_1 |
OMAi | KGRGWHP |
OrthoDBi | 1574918at2759 |
PhylomeDBi | P18545 |
TreeFami | TF333297 |
Family and domain databases
Gene3Di | 4.10.1120.10, 1 hit |
InterProi | View protein in InterPro IPR006952, PDE6_gamma IPR037030, PDE6_gamma_sf |
PANTHERi | PTHR12122, PTHR12122, 1 hit |
Pfami | View protein in Pfam PF04868, PDE6_gamma, 1 hit |
PIRSFi | PIRSF000969, 35-cGMP_Pdiase_g, 1 hit |
i Sequence
Sequence statusi: Complete.
P18545-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MNLEPPKAEF RSATRVAGGP VTPRKGPPKF KQRQTRQFKS KPPKKGVQGF
60 70 80
GDDIPGMEGL GTDITVICPW EAFNHLELHE LAQYGII
Sequence cautioni
The sequence CAD97656 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence EAW89666 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_009294 | 27 | P → H1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M36476 mRNA Translation: AAA60044.1 X62025 Genomic DNA Translation: CAA43975.1 U00482, U00481 Genomic DNA Translation: AAA03653.1 BX537414 mRNA Translation: CAD97656.1 Different initiation. CH471099 Genomic DNA Translation: EAW89666.1 Different initiation. BC106884 mRNA Translation: AAI06885.1 |
CCDSi | CCDS11783.1 |
PIRi | JH0142 |
RefSeqi | NP_002593.1, NM_002602.3 XP_006722005.1, XM_006721942.3 XP_016880224.1, XM_017024735.1 XP_016880225.1, XM_017024736.1 |
Genome annotation databases
Ensembli | ENST00000331056.10; ENSP00000328412.5; ENSG00000185527.12 ENST00000571004.1; ENSP00000461464.1; ENSG00000185527.12 ENST00000571224.5; ENSP00000458167.1; ENSG00000185527.12 |
GeneIDi | 5148 |
KEGGi | hsa:5148 |
MANE-Selecti | ENST00000331056.10; ENSP00000328412.5; NM_002602.4; NP_002593.1 |
UCSCi | uc002kay.4, human |
Similar proteinsi
Cross-referencesi
Web resourcesi
Mutations of the PDE6A/B/G genes Retina International's Scientific Newsletter |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M36476 mRNA Translation: AAA60044.1 X62025 Genomic DNA Translation: CAA43975.1 U00482, U00481 Genomic DNA Translation: AAA03653.1 BX537414 mRNA Translation: CAD97656.1 Different initiation. CH471099 Genomic DNA Translation: EAW89666.1 Different initiation. BC106884 mRNA Translation: AAI06885.1 |
CCDSi | CCDS11783.1 |
PIRi | JH0142 |
RefSeqi | NP_002593.1, NM_002602.3 XP_006722005.1, XM_006721942.3 XP_016880224.1, XM_017024735.1 XP_016880225.1, XM_017024736.1 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
3JWR | X-ray | 2.99 | C/D | 70-87 | [»] | |
AlphaFoldDBi | P18545 | |||||
SMRi | P18545 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 111174, 26 interactors |
IntActi | P18545, 11 interactors |
MINTi | P18545 |
STRINGi | 9606.ENSP00000328412 |
Chemistry databases
BindingDBi | P18545 |
ChEMBLi | CHEMBL2097163 CHEMBL2363066 |
DrugBanki | DB07954, 3-isobutyl-1-methyl-7H-xanthine DB00203, Sildenafil DB00820, Tadalafil DB00862, Vardenafil |
DrugCentrali | P18545 |
PTM databases
iPTMneti | P18545 |
PhosphoSitePlusi | P18545 |
Genetic variation databases
BioMutai | PDE6G |
DMDMi | 116583 |
Proteomic databases
MassIVEi | P18545 |
PaxDbi | P18545 |
PeptideAtlasi | P18545 |
PRIDEi | P18545 |
ProteomicsDBi | 53576 |
Protocols and materials databases
Antibodypediai | 57116, 118 antibodies from 19 providers |
DNASUi | 5148 |
Genome annotation databases
Ensembli | ENST00000331056.10; ENSP00000328412.5; ENSG00000185527.12 ENST00000571004.1; ENSP00000461464.1; ENSG00000185527.12 ENST00000571224.5; ENSP00000458167.1; ENSG00000185527.12 |
GeneIDi | 5148 |
KEGGi | hsa:5148 |
MANE-Selecti | ENST00000331056.10; ENSP00000328412.5; NM_002602.4; NP_002593.1 |
UCSCi | uc002kay.4, human |
Organism-specific databases
CTDi | 5148 |
DisGeNETi | 5148 |
GeneCardsi | PDE6G |
GeneReviewsi | PDE6G |
HGNCi | HGNC:8789, PDE6G |
HPAi | ENSG00000185527, Tissue enriched (retina) |
MalaCardsi | PDE6G |
MIMi | 180073, gene 613582, phenotype |
neXtProti | NX_P18545 |
OpenTargetsi | ENSG00000185527 |
Orphaneti | 791, Retinitis pigmentosa |
PharmGKBi | PA33137 |
VEuPathDBi | HostDB:ENSG00000185527 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502S20G, Eukaryota |
GeneTreei | ENSGT00390000013260 |
HOGENOMi | CLU_170469_0_0_1 |
OMAi | KGRGWHP |
OrthoDBi | 1574918at2759 |
PhylomeDBi | P18545 |
TreeFami | TF333297 |
Enzyme and pathway databases
PathwayCommonsi | P18545 |
Reactomei | R-HSA-2485179, Activation of the phototransduction cascade R-HSA-2514859, Inactivation, recovery and regulation of the phototransduction cascade R-HSA-4086398, Ca2+ pathway |
SignaLinki | P18545 |
SIGNORi | P18545 |
Miscellaneous databases
BioGRID-ORCSi | 5148, 20 hits in 1075 CRISPR screens |
EvolutionaryTracei | P18545 |
GeneWikii | PDE6G |
GenomeRNAii | 5148 |
Pharosi | P18545, Tclin |
PROi | PR:P18545 |
RNActi | P18545, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000185527, Expressed in retina and 147 other tissues |
Genevisiblei | P18545, HS |
Family and domain databases
Gene3Di | 4.10.1120.10, 1 hit |
InterProi | View protein in InterPro IPR006952, PDE6_gamma IPR037030, PDE6_gamma_sf |
PANTHERi | PTHR12122, PTHR12122, 1 hit |
Pfami | View protein in Pfam PF04868, PDE6_gamma, 1 hit |
PIRSFi | PIRSF000969, 35-cGMP_Pdiase_g, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | CNRG_HUMAN | |
Accessioni | P18545Primary (citable) accession number: P18545 Secondary accession number(s): Q3KP63, Q7Z3U8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1990 |
Last sequence update: | November 1, 1990 | |
Last modified: | May 25, 2022 | |
This is version 184 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families