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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: -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
  • spectrin binding Source: Ensembl

GO - Biological processi

Keywordsi

Molecular functionHydrolase
Biological processSensory transduction, Vision
LigandcGMP

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000185527.11
HGNCiHGNC:8789 PDE6G
MIMi180073 gene
neXtProtiNX_P18545

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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
GeneReviewsiPDE6G
MalaCardsiPDE6G
MIMi613582 phenotype
OpenTargetsiENSG00000185527
Orphaneti791 Retinitis pigmentosa
PharmGKBiPA33137

Chemistry databases

ChEMBLiCHEMBL2363066
DrugBankiDB07954 3-isobutyl-1-methyl-7H-xanthine
DB00203 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
ProteomicsDBi53576

PTM databases

iPTMnetiP18545
PhosphoSitePlusiP18545

Expressioni

Gene expression databases

BgeeiENSG00000185527 Expressed in 118 organ(s), highest expression level in retina
CleanExiHS_PDE6G
ExpressionAtlasiP18545 baseline and differential
GenevisibleiP18545 HS

Organism-specific databases

HPAiHPA045118

Interactioni

Subunit structurei

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

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi111174, 6 interactors
IntActiP18545, 9 interactors
MINTiP18545
STRINGi9606.ENSP00000328412

Chemistry databases

BindingDBiP18545

Structurei

Secondary structure

187
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP18545
SMRiP18545
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
InterProiView protein in InterPro
IPR006952 PDE6_gamma
IPR037030 PDE6_gamma_sf
PANTHERiPTHR12122 PTHR12122, 1 hit
PfamiView protein in Pfam
PF04868 PDE6_gamma, 1 hit
PIRSFiPIRSF000969 35-cGMP_Pdiase_g, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0C4DGN0A0A0C4DGN0_HUMAN
Retinal rod rhodopsin-sensitive cGM...
PDE6G
137Annotation score:
I3L446I3L446_HUMAN
Retinal rod rhodopsin-sensitive cGM...
PDE6G
70Annotation score:

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 → H1 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

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
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
SMRiP18545
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111174, 6 interactors
IntActiP18545, 9 interactors
MINTiP18545
STRINGi9606.ENSP00000328412

Chemistry databases

BindingDBiP18545
ChEMBLiCHEMBL2363066
DrugBankiDB07954 3-isobutyl-1-methyl-7H-xanthine
DB00203 Sildenafil
DB00862 Vardenafil

PTM databases

iPTMnetiP18545
PhosphoSitePlusiP18545

Polymorphism and mutation databases

BioMutaiPDE6G
DMDMi116583

Proteomic databases

PaxDbiP18545
PeptideAtlasiP18545
PRIDEiP18545
ProteomicsDBi53576

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
EuPathDBiHostDB:ENSG00000185527.11
GeneCardsiPDE6G
GeneReviewsiPDE6G
HGNCiHGNC:8789 PDE6G
HPAiHPA045118
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

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
PROiPR:P18545
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000185527 Expressed in 118 organ(s), highest expression level in retina
CleanExiHS_PDE6G
ExpressionAtlasiP18545 baseline and differential
GenevisibleiP18545 HS

Family and domain databases

Gene3Di4.10.1120.10, 1 hit
InterProiView protein in InterPro
IPR006952 PDE6_gamma
IPR037030 PDE6_gamma_sf
PANTHERiPTHR12122 PTHR12122, 1 hit
PfamiView protein in Pfam
PF04868 PDE6_gamma, 1 hit
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 historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1990
Last sequence update: November 1, 1990
Last modified: November 7, 2018
This is version 162 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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