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Q13956 (CNCG_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 112. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

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

Short name=GMP-PDE gamma
EC=3.1.4.35
Gene names
Name:PDE6H
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length83 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript 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

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

Domain

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

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.3

Sequence similarities

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 8383Retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma
PRO_0000166120

Regions

Compositional bias20 – 4122Arg/Lys-rich (basic)

Sequences

Sequence LengthMass (Da)Tools
Q13956 [UniParc].

Last modified November 1, 1996. Version 1.
Checksum: 7A8944DC0550BA45

FASTA839,074
        10         20         30         40         50         60 
MSDNTTLPAP ASNQGPTTPR KGPPKFKQRQ TRQFKSKPPK KGVKGFGDDI PGMEGLGTDI 

        70         80 
TVICPWEAFS HLELHELAQF GII 

« Hide

References

« Hide 'large scale' references
[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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_006196.1. NM_006205.2.
UniGeneHs.54471.

3D structure databases

ProteinModelPortalQ13956.
SMRQ13956. Positions 15-83.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid111175. 1 interaction.
STRING9606.ENSP00000266395.

Chemistry

BindingDBQ13956.
ChEMBLCHEMBL2095220.

PTM databases

PhosphoSiteQ13956.

Polymorphism databases

DMDM2833249.

Proteomic databases

PaxDbQ13956.
PRIDEQ13956.

Protocols and materials databases

DNASU5149.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000266395; ENSP00000266395; ENSG00000139053.
GeneID5149.
KEGGhsa:5149.
UCSCuc001rcr.3. human.

Organism-specific databases

CTD5149.
GeneCardsGC12P015125.
HGNCHGNC:8790. PDE6H.
MIM601190. gene.
610024. phenotype.
neXtProtNX_Q13956.
Orphanet49382. Achromatopsia.
PharmGKBPA33138.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG44345.
HOGENOMHOG000261673.
HOVERGENHBG000447.
InParanoidQ13956.
KOK13760.
OMATSNQGPT.
OrthoDBEOG7SN8FW.
PhylomeDBQ13956.
TreeFamTF333297.

Gene expression databases

BgeeQ13956.
CleanExHS_PDE6H.
GenevestigatorQ13956.

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

GenomeRNAi5149.
NextBio19868.
PROQ13956.
SOURCESearch...

Entry information

Entry nameCNCG_HUMAN
AccessionPrimary (citable) accession number: Q13956
Secondary accession number(s): Q52LY7
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1996
Last modified: April 16, 2014
This is version 112 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

MIM cross-references

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

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM