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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

  1. 3',5'-cyclic-GMP phosphodiesterase activity Source: UniProtKB-EC
  2. cGMP binding Source: InterPro
  3. enzyme inhibitor activity Source: ProtInc

GO - Biological processi

  1. activation of MAPK activity Source: Ensembl
  2. negative regulation of catalytic activity Source: GOC
  3. phototransduction, visible light Source: Reactome
  4. positive regulation of epidermal growth factor receptor signaling pathway Source: Ensembl
  5. positive regulation of G-protein coupled receptor protein signaling pathway Source: Ensembl
  6. regulation of rhodopsin mediated signaling pathway Source: Reactome
  7. rhodopsin mediated signaling pathway Source: Reactome
  8. visual perception Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

Sensory transduction, Vision

Keywords - Ligandi

cGMP

Enzyme and pathway databases

ReactomeiREACT_163919. Inactivation, recovery and regulation of the phototransduction cascade.
REACT_163932. Activation of the phototransduction cascade.
REACT_172761. Ca2+ pathway.
SignaLinkiP18545.

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
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:8789. PDE6G.

Subcellular locationi

GO - Cellular componenti

  1. photoreceptor disc membrane Source: Reactome
  2. plasma membrane Source: Reactome
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Retinitis pigmentosa 571 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

MIMi613582. phenotype.
Orphaneti791. Retinitis pigmentosa.
PharmGKBiPA33137.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 8787Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gammaPRO_0000166117Add
BLAST

Proteomic databases

PaxDbiP18545.
PRIDEiP18545.

PTM databases

PhosphoSiteiP18545.

Expressioni

Gene expression databases

BgeeiP18545.
CleanExiHS_PDE6G.
ExpressionAtlasiP18545. baseline and differential.
GenevestigatoriP18545.

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
Fnbp1Q8R5112EBI-2622029,EBI-1111424From a different organism.
Grb2P629942EBI-2622029,EBI-401775From a different organism.
Pacsin2Q9QY174EBI-2622029,EBI-491201From a different organism.
Pik3r1Q637872EBI-2622029,EBI-518443From a different organism.

Protein-protein interaction databases

BioGridi111174. 6 interactions.
IntActiP18545. 7 interactions.
MINTiMINT-4719843.
STRINGi9606.ENSP00000363875.

Structurei

Secondary structure

1
87
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Turni75 – 773Combined sources
Helixi78 – 836Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
3JWRX-ray2.99C/D70-87[»]
ProteinModelPortaliP18545.
SMRiP18545. Positions 1-87.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP18545.

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi24 – 4522Arg/Lys-rich (basic)Add
BLAST

Sequence similaritiesi

Phylogenomic databases

eggNOGiNOG44509.
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 CAD97656.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence EAW89666.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti27 – 271P → H.1 Publication
VAR_009294

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_006721942.1.
UniGeneiHs.654482.

Genome annotation databases

EnsembliENST00000331056; ENSP00000328412; ENSG00000185527.
ENST00000571004; ENSP00000461464; ENSG00000185527.
ENST00000571224; ENSP00000458167; ENSG00000185527.
GeneIDi5148.
KEGGihsa:5148.
UCSCiuc002kay.3. human.

Polymorphism databases

DMDMi116583.

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_006721942.1.
UniGeneiHs.654482.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
3JWRX-ray2.99C/D70-87[»]
ProteinModelPortaliP18545.
SMRiP18545. Positions 1-87.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111174. 6 interactions.
IntActiP18545. 7 interactions.
MINTiMINT-4719843.
STRINGi9606.ENSP00000363875.

Chemistry

ChEMBLiCHEMBL2097163.
DrugBankiDB00203. Sildenafil.
DB00862. Vardenafil.

PTM databases

PhosphoSiteiP18545.

Polymorphism databases

DMDMi116583.

Proteomic databases

PaxDbiP18545.
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.3. human.

Organism-specific databases

CTDi5148.
GeneCardsiGC17M079617.
GeneReviewsiPDE6G.
HGNCiHGNC:8789. PDE6G.
MIMi180073. gene.
613582. phenotype.
neXtProtiNX_P18545.
Orphaneti791. Retinitis pigmentosa.
PharmGKBiPA33137.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG44509.
GeneTreeiENSGT00390000013260.
HOGENOMiHOG000261673.
HOVERGENiHBG000447.
KOiK13759.
PhylomeDBiP18545.
TreeFamiTF333297.

Enzyme and pathway databases

ReactomeiREACT_163919. Inactivation, recovery and regulation of the phototransduction cascade.
REACT_163932. Activation of the phototransduction cascade.
REACT_172761. Ca2+ pathway.
SignaLinkiP18545.

Miscellaneous databases

EvolutionaryTraceiP18545.
GeneWikiiPDE6G.
GenomeRNAii5148.
NextBioi19864.
PROiP18545.
SOURCEiSearch...

Gene expression databases

BgeeiP18545.
CleanExiHS_PDE6G.
ExpressionAtlasiP18545. baseline and differential.
GenevestigatoriP18545.

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...

Publicationsi

« Hide 'large scale' publications
  1. "Isolation and characterization of cDNA encoding the gamma-subunit of cGMP phosphodiesterase in human retina."
    Tuteja N., Danciger M., Klisak I., Tuteja R., Inana G., Mohandas T., Sparkes R.S., Farber D.B.
    Gene 88:227-232(1990) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Retina.
  2. "The organization of the gamma-subunit gene of human photoreceptor cyclic GMP phosphodiesterase."
    Piriyev N.I., Purishko V.A., Khramtsov N.V., Lipkin V.M.
    Dokl. Akad. Nauk SSSR 315:229-231(1990) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    Tissue: Retina.
  3. "Evaluation of the gene encoding the gamma subunit of rod phosphodiesterase in retinitis pigmentosa."
    Hahn L.B., Berson E.L., Dryja T.P.
    Invest. Ophthalmol. Vis. Sci. 35:1077-1082(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT HIS-27.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Retina.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  7. "Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase."
    Dvir L., Srour G., Abu-Ras R., Miller B., Shalev S.A., Ben-Yosef T.
    Am. J. Hum. Genet. 87:258-264(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN RP57.

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: March 4, 2015
This is version 135 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

External Data

Dasty 3

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 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.