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P18545 (CNRG_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 125. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma

Short name=GMP-PDE gamma
EC=3.1.4.35
Gene names
Name:PDE6G
Synonyms:PDEG
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length87 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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 activity

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

Subunit structure

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

Involvement in disease

Retinitis pigmentosa 57 (RP57) [MIM:613582]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

Sequence similarities

Belongs to the rod/cone cGMP-PDE gamma subunit family.

Sequence caution

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

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

Ontologies

Keywords
   Biological processSensory transduction
Vision
   Coding sequence diversityPolymorphism
   DiseaseRetinitis pigmentosa
   LigandcGMP
   Molecular functionHydrolase
   PTMAcetylation
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processactivation of MAPK activity

Inferred from electronic annotation. Source: Ensembl

negative regulation of catalytic activity

Traceable author statement PubMed 7828894. Source: GOC

phototransduction, visible light

Traceable author statement. Source: Reactome

positive regulation of G-protein coupled receptor protein signaling pathway

Inferred from electronic annotation. Source: Ensembl

positive regulation of epidermal growth factor receptor signaling pathway

Inferred from electronic annotation. Source: Ensembl

regulation of rhodopsin mediated signaling pathway

Traceable author statement. Source: Reactome

rhodopsin mediated signaling pathway

Traceable author statement. Source: Reactome

visual perception

Traceable author statement PubMed 7828894. Source: ProtInc

   Cellular_componentphotoreceptor disc membrane

Traceable author statement. Source: Reactome

plasma membrane

Traceable author statement. Source: Reactome

   Molecular_function3',5'-cyclic-GMP phosphodiesterase activity

Inferred from electronic annotation. Source: UniProtKB-EC

cGMP binding

Inferred from electronic annotation. Source: InterPro

enzyme inhibitor activity

Traceable author statement PubMed 7828894. Source: ProtInc

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 8787Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma
PRO_0000166117

Regions

Compositional bias24 – 4522Arg/Lys-rich (basic)

Amino acid modifications

Modified residue11N-acetylmethionine By similarity

Natural variations

Natural variant271P → H. Ref.3
VAR_009294

Secondary structure

.... 87
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
P18545 [UniParc].

Last modified November 1, 1990. Version 1.
Checksum: 5D7DEE59D7DDB9E0

FASTA879,643
        10         20         30         40         50         60 
MNLEPPKAEF RSATRVAGGP VTPRKGPPKF KQRQTRQFKS KPPKKGVQGF GDDIPGMEGL 

        70         80 
GTDITVICPW EAFNHLELHE LAQYGII 

« Hide

References

« Hide 'large scale' references
[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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Retina.
[5]Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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.
+Additional computationally mapped references.

Web resources

Mutations of the PDE6A/B/G genes

Retina International's Scientific Newsletter

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIRJH0142.
RefSeqNP_002593.1. NM_002602.3.
UniGeneHs.654482.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
3JWRX-ray2.99C/D70-87[»]
ProteinModelPortalP18545.
SMRP18545. Positions 1-87.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid111174. 4 interactions.
IntActP18545. 7 interactions.
MINTMINT-4719843.
STRING9606.ENSP00000363875.

Chemistry

BindingDBP18545.
ChEMBLCHEMBL2097163.

PTM databases

PhosphoSiteP18545.

Polymorphism databases

DMDM116583.

Proteomic databases

PaxDbP18545.
PRIDEP18545.

Protocols and materials databases

DNASU5148.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000331056; ENSP00000328412; ENSG00000185527.
ENST00000571004; ENSP00000461464; ENSG00000185527.
ENST00000571224; ENSP00000458167; ENSG00000185527.
ENST00000573076; ENSP00000458567; ENSG00000185527.
GeneID5148.
KEGGhsa:5148.
UCSCuc002kay.3. human.

Organism-specific databases

CTD5148.
GeneCardsGC17M079617.
HGNCHGNC:8789. PDE6G.
MIM180073. gene.
613582. phenotype.
neXtProtNX_P18545.
Orphanet791. Retinitis pigmentosa.
PharmGKBPA33137.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG44509.
HOGENOMHOG000261673.
HOVERGENHBG000447.
InParanoidP18545.
KOK13759.
PhylomeDBP18545.
TreeFamTF333297.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.
REACT_116125. Disease.
SignaLinkP18545.

Gene expression databases

ArrayExpressP18545.
BgeeP18545.
CleanExHS_PDE6G.
GenevestigatorP18545.

Family and domain databases

Gene3D4.10.1120.10. 1 hit.
InterProIPR006952. PDE6_gamma.
[Graphical view]
PANTHERPTHR12122. PTHR12122. 1 hit.
PfamPF04868. PDE6_gamma. 1 hit.
[Graphical view]
PIRSFPIRSF000969. 35-cGMP_Pdiase_g. 1 hit.
ProtoNetSearch...

Other

EvolutionaryTraceP18545.
GeneWikiPDE6G.
GenomeRNAi5148.
NextBio19864.
PROP18545.
SOURCESearch...

Entry information

Entry nameCNRG_HUMAN
AccessionPrimary (citable) accession number: P18545
Secondary accession number(s): Q3KP63, Q7Z3U8
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1990
Last sequence update: November 1, 1990
Last modified: April 16, 2014
This is version 125 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM