Reviewed, UniProtKB/Swiss-Prot P51160 (PDE6C_HUMAN)

Names and origin

Protein names

Recommended name:
    Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha'
    EC=3.1.4.35
Alternative name(s):
    cGMP phosphodiesterase 6C

Gene names

Name:	PDE6C
Synonyms:	PDEA2

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	858 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Catalytic activity	Guanosine 3',5'-cyclic phosphate + H2O = guanosine 5'-phosphate.
Subunit structure	Composed of two alpha' subunits that are associated with 3 smaller proteins of 11, 13, and 15 kDa.
Subcellular location	Cell membrane; Lipid-anchor; Cytoplasmic side Potential.
Sequence similarities	Belongs to the cyclic nucleotide phosphodiesterase family. Contains 2 GAF domains.

Ontologies

Keywords
Biological process	Sensory transduction Vision
Cellular component	Cell membrane Membrane
Coding sequence diversity	Polymorphism
Domain	Repeat
Ligand	cGMP
Molecular function	Hydrolase
PTM	Lipoprotein Methylation Prenylation
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	signal transduction Inferred from electronic annotation. Source: InterPro
Cellular component	internal side of plasma membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	3',5'-cyclic-GMP phosphodiesterase activity Inferred from electronic annotation. Source: EC
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 855	855	Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha'		PRO_0000198831
	Propeptide	856 – 858	3	Removed in mature form Potential		PRO_0000370788
Regions
	Domain	75 – 224	150	GAF 1
	Domain	256 – 433	178	GAF 2
Amino acid modifications
	Modified residue	855	1	Cysteine methyl ester Potential
	Lipidation	855	1	S-geranylgeranyl cysteine By similarity
Natural variations
	Natural variant	157	1	D → E Rare polymorphism. Ref.6		VAR_025470
	Natural variant	270	1	S → T: dbSNP rs701865. Ref.3		VAR_050475
	Natural variant	699	1	E → A: dbSNP rs12261131.		VAR_050476
	Natural variant	822	1	K → N Rare polymorphism. Ref.6		VAR_025471
	Natural variant	834	1	E → G Rare polymorphism. Ref.6		VAR_025472
Experimental info
	Sequence conflict	116	1	D → V in AAA96392. Ref.1
	Sequence conflict	116	1	D → V in AAA92886. Ref.2
	Sequence conflict	373	1	Q → P in AAA96392. Ref.1
	Sequence conflict	464	1	P → L in AAA96392. Ref.1
	Sequence conflict	565	1	R → Q in AAA96392. Ref.1
	Sequence conflict	565	1	R → Q in AAA92886. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	P51160-1 [UniParc]. Last modified March 7, 2006. Version 2. Checksum: 06FFD025EE5936A5	FASTA	858	99,147
	10 20 30 40 50 60 MGEINQVAVE KYLEENPQFA KEYFDRKLRV EVLGEIFKNS QVPVQSSMSF SELTQVEESA 70 80 90 100 110 120 LCLELLWTVQ EEGGTPEQGV HRALQRLAHL LQADRCSMFL CRSRNGIPEV ASRLLDVTPT 130 140 150 160 170 180 SKFEDNLVGP DKEVVFPLDI GIVGWAAHTK KTHNVPDVKK NSHFSDFMDK QTGYVTKNLL 190 200 210 220 230 240 ATPIVVGKEV LAVIMAVNKV NASEFSKQDE EVFSKYLNFV SIILRLHHTS YMYNIESRRS 250 260 270 280 290 300 QILMWSANKV FEELTDVERQ FHKALYTVRS YLNCERYSIG LLDMTKEKEF YDEWPIKLGE 310 320 330 340 350 360 VEPYKGPKTP DGREVNFYKI IDYILHGKEE IKVIPTPPAD HWTLISGLPT YVAENGFICN 370 380 390 400 410 420 MMNAPADEYF TFQKGPVDET GWVIKNVLSL PIVNKKEDIV GVATFYNRKD GKPFDEHDEY 430 440 450 460 470 480 ITETLTQFLG WSLLNTDTYD KMNKLENRKD IAQEMLMNQT KATPEEIKSI LKFQEKLNVD 490 500 510 520 530 540 VIDDCEEKQL VAILKEDLPD PRSAELYEFR FSDFPLTEHG LIKCGIRLFF EINVVEKFKV 550 560 570 580 590 600 PVEVLTRWMY TVRKGYRAVT YHNWRHGFNV GQTMFTLLMT GRLKKYYTDL EAFAMLAAAF 610 620 630 640 650 660 CHDIDHRGTN NLYQMKSTSP LARLHGSSIL ERHHLEYSKT LLQDESLNIF QNLNKRQFET 670 680 690 700 710 720 VIHLFEVAII ATDLALYFKK RTMFQKIVDA CEQMQTEEEA IKYVTVDPTK KEIIMAMMMT 730 740 750 760 770 780 ACDLSAITKP WEVQSQVALM VANEFWEQGD LERTVLQQQP IPMMDRNKRD ELPKLQVGFI 790 800 810 820 830 840 DFVCTFVYKE FSRFHKEITP MLSGLQNNRV EWKSLADEYD AKMKVIEEEA KKQEGGAEKA 850 AEDSGGGDDK KSKTCLML

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Isolation and characterization of a cDNA encoding the alpha' subunit of human cone cGMP-phosphodiesterase." Viczian A.S., Piriev N.I., Farber D.B. Gene 166:205-211(1995) [PubMed: 8543163] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Retina.
[2]	"Gene structure and amino acid sequence of the human cone photoreceptor cGMP-phosphodiesterase alpha' subunit (PDEA2) and its chromosomal localization to 10q24." Piriev N.I., Viczian A.S., Ye J., Kerner B., Korenberg J.R., Farber D.B. Genomics 28:429-435(1995) [PubMed: 7490077] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. Tissue: Retina.
[3]	"Human cone-specific cGMP phosphodiesterase alpha' subunit: complete cDNA sequence and gene arrangement." Feshchenko E.A., Andreeva S.G., Suslova V.A., Smirnova E.V., Zagranichny V.E., Lipkin V.M. FEBS Lett. 381:149-152(1996) [PubMed: 8641425] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], VARIANT THR-270. Tissue: Retina.
[4]	"The DNA sequence and comparative analysis of human chromosome 10." Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J. Nature 429:375-381(2004) [PubMed: 15164054] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	Mural R.J., Istrail S., Sutton G.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 (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"Screening of the gene encoding the alpha'-subunit of cone cGMP-PDE in patients with retinal degenerations." Gao Y.Q., Danciger M., Longmuir R., Piriev N.I., Zhao D.Y., Heckenlively J.R., Fishman G.A., Weleber R.G., Jacobson S.G., Stone E.M., Farber D.B. Invest. Ophthalmol. Vis. Sci. 40:1818-1822(1999) [PubMed: 10393054] [Abstract] Cited for: VARIANTS GLU-157; ASN-822 AND GLY-834.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	U31973 mRNA. Translation: AAA96392.1. U20212 , U20196, U20197, U20199, U20200, U20201, U20202, U20203, U20204, U20205, U20206, U20207, U20208, U20209, U20210, U20211 Genomic DNA. Translation: AAA92886.1. X94354 Genomic DNA. Translation: CAA64079.1. AL356214, AL157396 Genomic DNA. Translation: CAH72330.1. AL157396, AL356214 Genomic DNA. Translation: CAH73839.1. CH471066 Genomic DNA. Translation: EAW50064.1.
IPI	IPI00747459.
PIR	JC4520. S63688.
RefSeq	NP_006195.3.
UniGene	Hs.658121
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	P51160.
Proteomic databases
PRIDE	P51160.
Genome annotation databases
Ensembl	ENST00000371447; ENSP00000360502; ENSG00000095464; Homo sapiens. [Genome view]
GeneID	5146.
KEGG	hsa:5146.
NMPDR	fig|9606.3.peg.4370.
UCSC	uc001kiu.2. human.
Organism-specific databases
CTD	5146.
GeneCards	GC10P095362.
HGNC	HGNC:8787. PDE6C.
MIM	600827. gene.
PharmGKB	PA33135.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	P51160.
OMA	DCEEKQL.
Enzyme and pathway databases
BRENDA	3.1.4.35. 247.
Pathway_Interaction_DB	cone_pathway. Visual signal transduction: Cones.
Gene expression databases
ArrayExpress	P51160.
Bgee	P51160.
CleanEx	HS_PDE6C.
Genevestigator	P51160.
GermOnline	ENSG00000095464. Homo sapiens.
Family and domain databases
InterPro	IPR003018. GAF. IPR003607. Met-dep_phosphohydro_HD. IPR002073. PDEase. [Graphical view]
Pfam	PF01590. GAF. 2 hits. PF00233. PDEase_I. 1 hit. [Graphical view]
PRINTS	PR00387. PDIESTERASE1.
SMART	SM00065. GAF. 2 hits. SM00471. HDc. 1 hit. [Graphical view]
PROSITE	PS00126. PDEASE_I. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	19856.
SOURCE	Search...

Entry information

Entry name

PDE6C_HUMAN

Accession

Primary (citable) accession number: P51160
Secondary accession number(s): A6NCR6, Q5VY29

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1996
Last sequence update:	March 7, 2006
Last modified:	November 3, 2009
This is version 89 of the entry and version 2 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.