Reviewed, UniProtKB/Swiss-Prot Q13956 (CNCG_HUMAN)

Names and origin

Protein names

Recommended name:
    Retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma
      Short name=GMP-PDE gamma
    EC=3.1.4.17

Gene names

Name:

PDE6H

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	83 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence 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	Defects in PDE6H are the cause of cone dystrophy retinal type 3A (RCD3A) [MIM:610024]; also known as cone dystrophy with night blindness and supernormal rod responses. RCD3A is 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. Ref.3
Sequence similarities	Belongs to the rod/cone cGMP-PDE gamma subunit family.

Ontologies

Keywords
Biological process	Sensory transduction Vision
Ligand	cGMP
Molecular function	Hydrolase
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	response to stimulus Inferred from electronic annotation. Source: UniProtKB-KW visual perception Ref.1 Traceable author statement. Source: ProtInc
Molecular function	3',5'-cyclic-nucleotide phosphodiesterase activity Inferred from electronic annotation. Source: EC cGMP binding Inferred from electronic annotation. Source: InterPro enzyme inhibitor activity Ref.1 Traceable author statement. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 83	83	Retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma		PRO_0000166120
Regions
	Compositional bias	20 – 41	22	Arg/Lys-rich (basic)

Sequences

	Sequence		Length	Mass (Da)
	Q13956-1 [UniParc]. Last modified November 1, 1996. Version 1. Checksum: 7A8944DC0550BA45	FASTA	83	9,074
	10 20 30 40 50 60 MSDNTTLPAP ASNQGPTTPR KGPPKFKQRQ TRQFKSKPPK KGVKGFGDDI PGMEGLGTDI 70 80 TVICPWEAFS HLELHELAQF GII

References

	« Hide 'large scale' referencesShow '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: 8786098] [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: 15489334] [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: 15629837] [Abstract] Cited for: INVOLVEMENT IN RCD3A.

Cross-references

Sequence databases
EMBLGenBankDDBJ	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.
IPI	IPI00016754.
RefSeq	NP_006196.1.
UniGene	Hs.54471
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	Q13956.
Proteomic databases
PRIDE	Q13956.
Genome annotation databases
Ensembl	ENST00000266395; ENSP00000266395; ENSG00000139053; Homo sapiens. [Genome view]
GeneID	5149.
KEGG	hsa:5149.
UCSC	uc001rcr.1. human.
Organism-specific databases
CTD	5149.
GeneCards	GC12P015017.
H-InvDB	HIX0036828.
HGNC	HGNC:8790. PDE6H.
MIM	601190. gene. 610024. phenotype.
Orphanet	1872. Cone rod dystrophy.
PharmGKB	PA33138.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q13956.
HOVERGEN	Q13956.
OMA	GXITVIC.
Enzyme and pathway databases
BRENDA	3.1.4.17. 247.
Pathway_Interaction_DB	cone_pathway. Visual signal transduction: Cones.
Gene expression databases
ArrayExpress	Q13956.
Bgee	Q13956.
CleanEx	HS_PDE6H.
Genevestigator	Q13956.
GermOnline	ENSG00000139053. Homo sapiens.
Family and domain databases
InterPro	IPR006952. PDE6_gamma. [Graphical view]
PANTHER	PTHR12122. PDE6_gamma. 1 hit.
Pfam	PF04868. PDE6_gamma. 1 hit. [Graphical view]
PIRSF	PIRSF000969. 35-cGMP_Pdiase_g. 1 hit.
ProtoNet	Search...
Other Resources
NextBio	19868.
SOURCE	Search...

Entry information

Entry name

CNCG_HUMAN

Accession

Primary (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:	November 3, 2009
This is version 72 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any 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.