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Protein

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

Gene

PDE6H

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript 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. positive regulation of epidermal growth factor receptor signaling pathway Source: Ensembl
  4. positive regulation of G-protein coupled receptor protein signaling pathway Source: Ensembl
  5. response to stimulus Source: UniProtKB-KW
  6. visual perception Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

Sensory transduction, Vision

Keywords - Ligandi

cGMP

Names & Taxonomyi

Protein namesi
Recommended name:
Retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma (EC:3.1.4.35)
Short name:
GMP-PDE gamma
Gene namesi
Name:PDE6H
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:8790. PDE6H.

Pathology & Biotechi

Involvement in diseasei

Cone dystrophy, retinal 3A (RCD3A)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA rare form of cone dystrophy associated with supernormal rod responses. The disorder is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision. At an early age, the retina shows subtle depigmentation at the macula and, later, more obvious areas of atrophy.

See also OMIM:610024

Organism-specific databases

MIMi610024. phenotype.
Orphaneti49382. Achromatopsia.
PharmGKBiPA33138.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 8383Retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gammaPRO_0000166120Add
BLAST

Proteomic databases

PaxDbiQ13956.
PRIDEiQ13956.

PTM databases

PhosphoSiteiQ13956.

Expressioni

Gene expression databases

BgeeiQ13956.
CleanExiHS_PDE6H.
GenevestigatoriQ13956.

Interactioni

Subunit structurei

Tetramer composed of two catalytic chains (alpha and beta), and two inhibitory chains (gamma).

Protein-protein interaction databases

BioGridi111175. 3 interactions.
STRINGi9606.ENSP00000266395.

Structurei

3D structure databases

ProteinModelPortaliQ13956.
SMRiQ13956. Positions 15-83.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi20 – 4122Arg/Lys-rich (basic)Add
BLAST

Domaini

The C-terminal region is important in conferring inhibition.By similarity

Sequence similaritiesi

Phylogenomic databases

eggNOGiNOG44345.
GeneTreeiENSGT00390000013260.
HOGENOMiHOG000261673.
HOVERGENiHBG000447.
KOiK13760.
OMAiNDIPLME.
OrthoDBiEOG7SN8FW.
PhylomeDBiQ13956.
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.

Q13956-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSDNTTLPAP ASNQGPTTPR KGPPKFKQRQ TRQFKSKPPK KGVKGFGDDI
60 70 80
PGMEGLGTDI TVICPWEAFS HLELHELAQF GII
Length:83
Mass (Da):9,074
Last modified:October 31, 1996 - v1
Checksum:i7A8944DC0550BA45
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D45399 mRNA. Translation: BAA08241.1.
BC069774 mRNA. Translation: AAH69774.1.
BC069800 mRNA. Translation: AAH69800.1.
BC093738 mRNA. Translation: AAH93738.1.
BC093740 mRNA. Translation: AAH93740.1.
CCDSiCCDS8672.1.
RefSeqiNP_006196.1. NM_006205.2.
UniGeneiHs.54471.

Genome annotation databases

EnsembliENST00000266395; ENSP00000266395; ENSG00000139053.
GeneIDi5149.
KEGGihsa:5149.
UCSCiuc001rcr.3. human.

Polymorphism databases

DMDMi2833249.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D45399 mRNA. Translation: BAA08241.1.
BC069774 mRNA. Translation: AAH69774.1.
BC069800 mRNA. Translation: AAH69800.1.
BC093738 mRNA. Translation: AAH93738.1.
BC093740 mRNA. Translation: AAH93740.1.
CCDSiCCDS8672.1.
RefSeqiNP_006196.1. NM_006205.2.
UniGeneiHs.54471.

3D structure databases

ProteinModelPortaliQ13956.
SMRiQ13956. Positions 15-83.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111175. 3 interactions.
STRINGi9606.ENSP00000266395.

Chemistry

ChEMBLiCHEMBL2363066.
DrugBankiDB00203. Sildenafil.
DB00862. Vardenafil.

PTM databases

PhosphoSiteiQ13956.

Polymorphism databases

DMDMi2833249.

Proteomic databases

PaxDbiQ13956.
PRIDEiQ13956.

Protocols and materials databases

DNASUi5149.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000266395; ENSP00000266395; ENSG00000139053.
GeneIDi5149.
KEGGihsa:5149.
UCSCiuc001rcr.3. human.

Organism-specific databases

CTDi5149.
GeneCardsiGC12P015125.
GeneReviewsiPDE6H.
HGNCiHGNC:8790. PDE6H.
MIMi601190. gene.
610024. phenotype.
neXtProtiNX_Q13956.
Orphaneti49382. Achromatopsia.
PharmGKBiPA33138.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG44345.
GeneTreeiENSGT00390000013260.
HOGENOMiHOG000261673.
HOVERGENiHBG000447.
KOiK13760.
OMAiNDIPLME.
OrthoDBiEOG7SN8FW.
PhylomeDBiQ13956.
TreeFamiTF333297.

Miscellaneous databases

GenomeRNAii5149.
NextBioi19868.
PROiQ13956.
SOURCEiSearch...

Gene expression databases

BgeeiQ13956.
CleanExiHS_PDE6H.
GenevestigatoriQ13956.

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 chromosomal localization of the human cone cGMP phosphodiesterase gamma cDNA (PDE6H)."
    Shimizu-Matsumoto A., Itoh K., Inazawa J., Nishida K., Matsumoto Y., Kinoshita S., Matsubara K., Okubo K.
    Genomics 32:121-124(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Retina.
  2. "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(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  3. "A substitution of G to C in the cone cGMP-phosphodiesterase gamma subunit gene found in a distinctive form of cone dystrophy."
    Piri N., Gao Y.Q., Danciger M., Mendoza E., Fishman G.A., Farber D.B.
    Ophthalmology 112:159-166(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN RCD3A.

Entry informationi

Entry nameiCNCG_HUMAN
AccessioniPrimary (citable) accession number: Q13956
Secondary accession number(s): Q52LY7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 31, 1997
Last sequence update: October 31, 1996
Last modified: February 3, 2015
This is version 119 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. 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.