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Protein

Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma

Gene

PDE6G

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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

Guanosine 3',5'-cyclic phosphate + H2O = guanosine 5'-phosphate.

GO - Molecular functioni

  • 3',5'-cyclic-GMP phosphodiesterase activity Source: UniProtKB-EC
  • cGMP binding Source: InterPro
  • enzyme inhibitor activity Source: ProtInc

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

Sensory transduction, Vision

Keywords - Ligandi

cGMP

Enzyme and pathway databases

BioCyciZFISH:ENSG00000139053-MONOMER.
ReactomeiR-HSA-2485179. Activation of the phototransduction cascade.
R-HSA-2514859. Inactivation, recovery and regulation of the phototransduction cascade.
R-HSA-4086398. Ca2+ pathway.
SignaLinkiP18545.
SIGNORiP18545.

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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:8789. PDE6G.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Retinitis pigmentosa 57 (RP57)1 Publication
The disease is caused by mutations 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.
See also OMIM:613582

Keywords - Diseasei

Retinitis pigmentosa

Organism-specific databases

DisGeNETi5148.
MalaCardsiPDE6G.
MIMi613582. phenotype.
OpenTargetsiENSG00000185527.
Orphaneti791. Retinitis pigmentosa.
PharmGKBiPA33137.

Chemistry databases

ChEMBLiCHEMBL2363066.
DrugBankiDB00203. Sildenafil.
DB00862. Vardenafil.

Polymorphism and mutation databases

BioMutaiPDE6G.
DMDMi116583.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001661171 – 87Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gammaAdd BLAST87

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

PaxDbiP18545.
PeptideAtlasiP18545.
PRIDEiP18545.

PTM databases

iPTMnetiP18545.
PhosphoSitePlusiP18545.

Expressioni

Gene expression databases

BgeeiENSG00000185527.
CleanExiHS_PDE6G.
ExpressionAtlasiP18545. baseline and differential.
GenevisibleiP18545. HS.

Organism-specific databases

HPAiCAB003685.

Interactioni

Subunit structurei

Oligomer composed of two catalytic chains (alpha and beta), an inhibitory chain (gamma) and the delta chain.

Binary interactionsi

WithEntry#Exp.IntActNotes
BHLHE40O145033EBI-2622029,EBI-711810
Fnbp1Q8R5112EBI-2622029,EBI-1111424From a different organism.
Grb2P629942EBI-2622029,EBI-401775From a different organism.
L3MBTL3Q96JM73EBI-2622029,EBI-2686809
Pacsin2Q9QY174EBI-2622029,EBI-491201From a different organism.
Pik3r1Q637872EBI-2622029,EBI-518443From a different organism.

Protein-protein interaction databases

BioGridi111174. 6 interactors.
IntActiP18545. 9 interactors.
MINTiMINT-4719843.
STRINGi9606.ENSP00000328412.

Chemistry databases

BindingDBiP18545.

Structurei

Secondary structure

187
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Turni75 – 77Combined sources3
Helixi78 – 83Combined sources6

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3JWRX-ray2.99C/D70-87[»]
ProteinModelPortaliP18545.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP18545.

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi24 – 45Arg/Lys-rich (basic)Add BLAST22

Sequence similaritiesi

Phylogenomic databases

eggNOGiENOG410IZA8. Eukaryota.
ENOG410YN07. LUCA.
GeneTreeiENSGT00390000013260.
HOGENOMiHOG000261673.
HOVERGENiHBG000447.
KOiK13759.
PhylomeDBiP18545.
TreeFamiTF333297.

Family and domain databases

Gene3Di4.10.1120.10. 1 hit.
InterProiIPR006952. PDE6_gamma.
[Graphical view]
PANTHERiPTHR12122. PTHR12122. 1 hit.
PfamiPF04868. PDE6_gamma. 1 hit.
[Graphical view]
PIRSFiPIRSF000969. 35-cGMP_Pdiase_g. 1 hit.

Sequencei

Sequence statusi: Complete.

P18545-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MNLEPPKAEF RSATRVAGGP VTPRKGPPKF KQRQTRQFKS KPPKKGVQGF
60 70 80
GDDIPGMEGL GTDITVICPW EAFNHLELHE LAQYGII
Length:87
Mass (Da):9,643
Last modified:November 1, 1990 - v1
Checksum:i5D7DEE59D7DDB9E0
GO

Sequence cautioni

The sequence CAD97656 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence EAW89666 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00929427P → H.1 Publication1

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.
CCDSiCCDS11783.1.
PIRiJH0142.
RefSeqiNP_002593.1. NM_002602.3.
XP_006722005.1. XM_006721942.3.
XP_016880224.1. XM_017024735.1.
XP_016880225.1. XM_017024736.1.
UniGeneiHs.654482.

Genome annotation databases

EnsembliENST00000331056; ENSP00000328412; ENSG00000185527.
ENST00000571004; ENSP00000461464; ENSG00000185527.
ENST00000571224; ENSP00000458167; ENSG00000185527.
GeneIDi5148.
KEGGihsa:5148.
UCSCiuc002kay.4. human.

Keywords - Coding sequence diversityi

Polymorphism

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.
CCDSiCCDS11783.1.
PIRiJH0142.
RefSeqiNP_002593.1. NM_002602.3.
XP_006722005.1. XM_006721942.3.
XP_016880224.1. XM_017024735.1.
XP_016880225.1. XM_017024736.1.
UniGeneiHs.654482.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3JWRX-ray2.99C/D70-87[»]
ProteinModelPortaliP18545.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111174. 6 interactors.
IntActiP18545. 9 interactors.
MINTiMINT-4719843.
STRINGi9606.ENSP00000328412.

Chemistry databases

BindingDBiP18545.
ChEMBLiCHEMBL2363066.
DrugBankiDB00203. Sildenafil.
DB00862. Vardenafil.

PTM databases

iPTMnetiP18545.
PhosphoSitePlusiP18545.

Polymorphism and mutation databases

BioMutaiPDE6G.
DMDMi116583.

Proteomic databases

PaxDbiP18545.
PeptideAtlasiP18545.
PRIDEiP18545.

Protocols and materials databases

DNASUi5148.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000331056; ENSP00000328412; ENSG00000185527.
ENST00000571004; ENSP00000461464; ENSG00000185527.
ENST00000571224; ENSP00000458167; ENSG00000185527.
GeneIDi5148.
KEGGihsa:5148.
UCSCiuc002kay.4. human.

Organism-specific databases

CTDi5148.
DisGeNETi5148.
GeneCardsiPDE6G.
GeneReviewsiPDE6G.
HGNCiHGNC:8789. PDE6G.
HPAiCAB003685.
MalaCardsiPDE6G.
MIMi180073. gene.
613582. phenotype.
neXtProtiNX_P18545.
OpenTargetsiENSG00000185527.
Orphaneti791. Retinitis pigmentosa.
PharmGKBiPA33137.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IZA8. Eukaryota.
ENOG410YN07. LUCA.
GeneTreeiENSGT00390000013260.
HOGENOMiHOG000261673.
HOVERGENiHBG000447.
KOiK13759.
PhylomeDBiP18545.
TreeFamiTF333297.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000139053-MONOMER.
ReactomeiR-HSA-2485179. Activation of the phototransduction cascade.
R-HSA-2514859. Inactivation, recovery and regulation of the phototransduction cascade.
R-HSA-4086398. Ca2+ pathway.
SignaLinkiP18545.
SIGNORiP18545.

Miscellaneous databases

EvolutionaryTraceiP18545.
GeneWikiiPDE6G.
GenomeRNAii5148.
PROiP18545.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000185527.
CleanExiHS_PDE6G.
ExpressionAtlasiP18545. baseline and differential.
GenevisibleiP18545. HS.

Family and domain databases

Gene3Di4.10.1120.10. 1 hit.
InterProiIPR006952. PDE6_gamma.
[Graphical view]
PANTHERiPTHR12122. PTHR12122. 1 hit.
PfamiPF04868. PDE6_gamma. 1 hit.
[Graphical view]
PIRSFiPIRSF000969. 35-cGMP_Pdiase_g. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiCNRG_HUMAN
AccessioniPrimary (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: November 30, 2016
This is version 150 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.