P18545 (CNRG_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma
Short name=GMP-PDE gamma
EC=3.1.4.35

Gene names

Name:	PDE6G
Synonyms:	PDEG

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	87 AA.
Sequence status	Complete.
Protein existence	Evidence at protein 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	Oligomer composed of two catalytic chains (alpha and beta), an inhibitory chain (gamma) and the delta chain.
Involvement in disease	Retinitis pigmentosa 57 (RP57) [MIM:613582]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7
Sequence similarities	Belongs to the rod/cone cGMP-PDE gamma subunit family.
Sequence caution	The sequence CAD97656.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. The sequence EAW89666.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
Biological process	Sensory transduction Vision
Coding sequence diversity	Polymorphism
Disease	Retinitis pigmentosa
Ligand	cGMP
Molecular function	Hydrolase
PTM	Acetylation
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	activation of MAPK activity Inferred from electronic annotation. Source: Compara blood coagulation Traceable author statement. Source: Reactome positive regulation of G-protein coupled receptor protein signaling pathway Inferred from electronic annotation. Source: Compara positive regulation of epidermal growth factor receptor signaling pathway Inferred from electronic annotation. Source: Compara visual perception Traceable author statement PubMed 7828894. Source: ProtInc
Cellular_component	cytosol Traceable author statement. Source: Reactome
Molecular_function	3',5'-cyclic-GMP phosphodiesterase activity Inferred from electronic annotation. Source: EC cGMP binding Inferred from electronic annotation. Source: InterPro enzyme inhibitor activity Traceable author statement PubMed 7828894. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 87

87

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

PRO_0000166117

Regions

Compositional bias

24 – 45

22

Arg/Lys-rich (basic)

Amino acid modifications

Modified residue

1

1

N-acetylmethionine By similarity

Natural variations

Natural variant

27

1

P → H. Ref.3

VAR_009294

Secondary structure

1

.

.

.

.

87

Helix Strand Turn

Details...

Turn

75 – 77

3

Helix

78 – 83

6

Sequences

	Sequence		Length	Mass (Da)
	P18545 [UniParc]. Last modified November 1, 1990. Version 1. Checksum: 5D7DEE59D7DDB9E0	FASTA	87	9,643
	10 20 30 40 50 60 MNLEPPKAEF RSATRVAGGP VTPRKGPPKF KQRQTRQFKS KPPKKGVQGF GDDIPGMEGL 70 80 GTDITVICPW EAFNHLELHE LAQYGII

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Isolation and characterization of cDNA encoding the gamma-subunit of cGMP phosphodiesterase in human retina." Tuteja N., Danciger M., Klisak I., Tuteja R., Inana G., Mohandas T., Sparkes R.S., Farber D.B. Gene 88:227-232(1990) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Retina.
[2]	"The organization of the gamma-subunit gene of human photoreceptor cyclic GMP phosphodiesterase." Piriyev N.I., Purishko V.A., Khramtsov N.V., Lipkin V.M. Dokl. Akad. Nauk SSSR 315:229-231(1990) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. Tissue: Retina.
[3]	"Evaluation of the gene encoding the gamma subunit of rod phosphodiesterase in retinitis pigmentosa." Hahn L.B., Berson E.L., Dryja T.P. Invest. Ophthalmol. Vis. Sci. 35:1077-1082(1994) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT HIS-27.
[4]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Retina.
[5]	Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"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].
[7]	"Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase." Dvir L., Srour G., Abu-Ras R., Miller B., Shalev S.A., Ben-Yosef T. Am. J. Hum. Genet. 87:258-264(2010) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN RP57.
+	Additional computationally mapped references.

Web resources

Mutations of the PDE6A/B/G genes

Retina International's Scientific Newsletter

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

M36476 mRNA. Translation: AAA60044.1.
X62025 Genomic DNA. Translation: CAA43975.1.
U00482, U00481 Genomic DNA. Translation: AAA03653.1.
BX537414 mRNA. Translation: CAD97656.1. Different initiation.
CH471099 Genomic DNA. Translation: EAW89666.1. Different initiation.
BC106884 mRNA. Translation: AAI06885.1.

IPI

IPI00000119.

PIR

JH0142.

RefSeq

NP_002593.1. NM_002602.3.

UniGene

Hs.654482.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
3JWR	X-ray	2.99	C/D	70-87	[»]

ProteinModelPortal

P18545.

ModBase

Search...

Protein-protein interaction databases

IntAct

P18545. 1 interaction.

STRING

9606.ENSP00000363875.

PTM databases

PhosphoSite

P18545.

Polymorphism databases

DMDM

116583.

Proteomic databases

PaxDb

P18545.

PRIDE

P18545.

Protocols and materials databases

DNASU

5148.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000331056; ENSP00000328412; ENSG00000185527.
ENST00000571004; ENSP00000461464; ENSG00000185527.
ENST00000571224; ENSP00000458167; ENSG00000185527.
ENST00000573076; ENSP00000458567; ENSG00000185527.

GeneID

5148.

KEGG

hsa:5148.

UCSC

uc002kay.3. human.

Organism-specific databases

CTD

5148.

GeneCards

GC17M079617.

HGNC

HGNC:8789. PDE6G.

MIM

180073. gene.
613582. phenotype.

neXtProt

NX_P18545.

Orphanet

791. Retinitis pigmentosa.

PharmGKB

PA33137.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG44509.

HOGENOM

HOG000261673.

HOVERGEN

HBG000447.

InParanoid

P18545.

KO

K13759.

OMA

DCSRRES.

OrthoDB

EOG43210Q.

PhylomeDB

P18545.

Enzyme and pathway databases

Pathway_Interaction_DB

rhodopsin_pathway. Visual signal transduction: Rods.

Reactome

REACT_604. Hemostasis.

Gene expression databases

ArrayExpress

P18545.

Bgee

P18545.

CleanEx

HS_PDE6G.

Genevestigator

P18545.

GermOnline

ENSG00000185527. Homo sapiens.

Family and domain databases

InterPro

IPR006952. PDE6_gamma.
[Graphical view]

PANTHER

PTHR12122. PTHR12122. 1 hit.

Pfam

PF04868. PDE6_gamma. 1 hit.
[Graphical view]

PIRSF

PIRSF000969. 35-cGMP_Pdiase_g. 1 hit.

ProtoNet

Search...

Other

BindingDB

P18545.

ChEMBL

CHEMBL2415.

EvolutionaryTrace

P18545.

GenomeRNAi

5148.

NextBio

19864.

SOURCE

Search...

Entry information

Entry name

CNRG_HUMAN

Accession

Primary (citable) accession number: P18545
Secondary accession number(s): Q3KP63, Q7Z3U8

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1990
Last sequence update:	November 1, 1990
Last modified:	May 1, 2013
This is version 116 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

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.