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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: -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

Keywordsi

Molecular functionHydrolase
Biological processSensory transduction, Vision
LigandcGMP

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
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000139053.2
HGNCiHGNC:8790 PDE6H
MIMi601190 gene
neXtProtiNX_Q13956

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

DisGeNETi5149
GeneReviewsiPDE6H
MalaCardsiPDE6H
MIMi610024 phenotype
OpenTargetsiENSG00000139053
Orphaneti49382 Achromatopsia
PharmGKBiPA33138

Chemistry databases

ChEMBLiCHEMBL2363066
DrugBankiDB00203 Sildenafil
DB00862 Vardenafil

Polymorphism and mutation databases

BioMutaiPDE6H
DMDMi2833249

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001661201 – 83Retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gammaAdd BLAST83

Proteomic databases

PaxDbiQ13956
PRIDEiQ13956
ProteomicsDBi59778

PTM databases

iPTMnetiQ13956
PhosphoSitePlusiQ13956

Expressioni

Gene expression databases

BgeeiENSG00000139053
CleanExiHS_PDE6H
GenevisibleiQ13956 HS

Organism-specific databases

HPAiHPA045118

Interactioni

Subunit structurei

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

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi111175, 4 interactors
IntActiQ13956, 4 interactors
STRINGi9606.ENSP00000266395

Chemistry databases

BindingDBiQ13956

Structurei

3D structure databases

ProteinModelPortaliQ13956
SMRiQ13956
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi20 – 41Arg/Lys-rich (basic)Add BLAST22

Domaini

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

Sequence similaritiesi

Phylogenomic databases

eggNOGiENOG410IZA8 Eukaryota
ENOG410YN07 LUCA
GeneTreeiENSGT00390000013260
HOGENOMiHOG000261673
HOVERGENiHBG000447
KOiK13760
OMAiNDIPLME
OrthoDBiEOG091G14J5
PhylomeDBiQ13956
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

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:November 1, 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
XP_016874920.1, XM_017019431.1
UniGeneiHs.54471

Genome annotation databases

EnsembliENST00000266395; ENSP00000266395; ENSG00000139053
GeneIDi5149
KEGGihsa:5149
UCSCiuc001rcr.5 human

Similar proteinsi

Entry informationi

Entry nameiCNCG_HUMAN
AccessioniPrimary (citable) accession number: Q13956
Secondary accession number(s): Q52LY7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1996
Last modified: June 20, 2018
This is version 142 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

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

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