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Q13956

- CNCG_HUMAN

UniProt

Q13956 - CNCG_HUMAN

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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: 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: Chromosome 12

Organism-specific databases

HGNCiHGNC:8790. PDE6H.

Pathology & Biotechi

Involvement in diseasei

Cone dystrophy, retinal 3A (RCD3A) [MIM:610024]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

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. 1 interaction.
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.
OMAiTSNQGPT.
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 [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:
EMBL
GenBank
DDBJ
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:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS8672.1.
RefSeqi NP_006196.1. NM_006205.2.
UniGenei Hs.54471.

3D structure databases

ProteinModelPortali Q13956.
SMRi Q13956. Positions 15-83.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 111175. 1 interaction.
STRINGi 9606.ENSP00000266395.

Chemistry

BindingDBi Q13956.
ChEMBLi CHEMBL2363066.
DrugBanki DB00203. Sildenafil.
DB00862. Vardenafil.

PTM databases

PhosphoSitei Q13956.

Polymorphism databases

DMDMi 2833249.

Proteomic databases

PaxDbi Q13956.
PRIDEi Q13956.

Protocols and materials databases

DNASUi 5149.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000266395 ; ENSP00000266395 ; ENSG00000139053 .
GeneIDi 5149.
KEGGi hsa:5149.
UCSCi uc001rcr.3. human.

Organism-specific databases

CTDi 5149.
GeneCardsi GC12P015125.
GeneReviewsi PDE6H.
HGNCi HGNC:8790. PDE6H.
MIMi 601190. gene.
610024. phenotype.
neXtProti NX_Q13956.
Orphaneti 49382. Achromatopsia.
PharmGKBi PA33138.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG44345.
GeneTreei ENSGT00390000013260.
HOGENOMi HOG000261673.
HOVERGENi HBG000447.
KOi K13760.
OMAi TSNQGPT.
OrthoDBi EOG7SN8FW.
PhylomeDBi Q13956.
TreeFami TF333297.

Miscellaneous databases

GenomeRNAii 5149.
NextBioi 19868.
PROi Q13956.
SOURCEi Search...

Gene expression databases

Bgeei Q13956.
CleanExi HS_PDE6H.
Genevestigatori Q13956.

Family and domain databases

Gene3Di 4.10.1120.10. 1 hit.
InterProi IPR006952. PDE6_gamma.
[Graphical view ]
PANTHERi PTHR12122. PTHR12122. 1 hit.
Pfami PF04868. PDE6_gamma. 1 hit.
[Graphical view ]
PIRSFi PIRSF000969. 35-cGMP_Pdiase_g. 1 hit.
ProtoNeti Search...

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(1996) [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(2004) [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(2005) [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: November 1, 1997
Last sequence update: November 1, 1996
Last modified: October 29, 2014
This is version 116 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