PDE6C

Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' is an enzyme that in humans is encoded by the PDE6C gene.[5]

PDE6C
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3JWQ, 3JWR, 5E8F
Identifiers
Aliases	PDE6C, ACHM5, COD4, PDEA2, phosphodiesterase 6C
External IDs	OMIM: 600827 MGI: 105956 HomoloGene: 4521 GeneCards: PDE6C
Gene location (Human) Chr. Chromosome 10 (human)[1] Band 10q23.33 Start 93,612,537 bp[1] End 93,666,010 bp[1]
Gene location (Mouse) Chr. Chromosome 19 (mouse)[2] Band 19|19 C2 Start 38,132,781 bp[2] End 38,183,958 bp[2]
Gene ontology Molecular function • phosphoric diester hydrolase activity • nucleotide binding • cGMP binding • 3',5'-cyclic-GMP phosphodiesterase activity • hydrolase activity • 3',5'-cyclic-nucleotide phosphodiesterase activity • metal ion binding Cellular component • cell membrane • membrane Biological process • sensory perception of light stimulus • retinal cone cell development • signal transduction • visual perception • phototransduction, visible light • response to stimulus Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	5146	110855
Ensembl	ENSG00000095464	ENSMUSG00000024992
UniProt	P51160	Q91ZQ1
RefSeq (mRNA)	NM_006204	NM_001170959 NM_033614
RefSeq (protein)	NP_006195	NP_001164430 NP_291092
Location (UCSC)	Chr 10: 93.61 – 93.67 Mb	Chr 19: 38.13 – 38.18 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

References

1. GRCh38: Ensembl release 89: ENSG00000095464 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000024992 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: PDE6C phosphodiesterase 6C, cGMP-specific, cone, alpha prime".

Further reading

• Deloukas P, Earthrowl ME, Grafham DV, et al. (2004). "The DNA sequence and comparative analysis of human chromosome 10". Nature. 429 (6990): 375–381. doi:10.1038/nature02462. PMID 15164054.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–16903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Bertazolli-Filho R, Ghosh S, Huang W, et al. (2001). "Molecular evidence that human ocular ciliary epithelium expresses components involved in phototransduction". Biochem. Biophys. Res. Commun. 284 (2): 317–325. doi:10.1006/bbrc.2001.4970. PMID 11394879.
• Harrington JJ, Sherf B, Rundlett S, et al. (2001). "Creation of genome-wide protein expression libraries using random activation of gene expression". Nat. Biotechnol. 19 (5): 440–445. doi:10.1038/88107. PMID 11329013.
• Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination". Genome Res. 10 (11): 1788–1795. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
• Gao YQ, Danciger M, Longmuir R, et al. (1999). "Screening of the gene encoding the alpha'-subunit of cone cGMP-PDE in patients with retinal degenerations". Invest. Ophthalmol. Vis. Sci. 40 (8): 1818–1822. PMID 10393054.
• Feshchenko EA, Andreeva SG, Suslova VA, et al. (1996). "Human cone-specific cGMP phosphodiesterase alpha' subunit: complete cDNA sequence and gene arrangement". FEBS Lett. 381 (1–2): 149–152. doi:10.1016/0014-5793(96)00104-4. PMID 8641425.
• Viczian AS, Piriev NI, Farber DB (1996). "Isolation and characterization of a cDNA encoding the alpha' subunit of human cone cGMP-phosphodiesterase". Gene. 166 (2): 205–211. doi:10.1016/0378-1119(95)00585-4. PMID 8543163.
• Piriev NI, Viczian AS, Ye J, et al. (1996). "Gene structure and amino acid sequence of the human cone photoreceptor cGMP-phosphodiesterase alpha' subunit (PDEA2) and its chromosomal localization to 10q24". Genomics. 28 (3): 429–435. doi:10.1006/geno.1995.1171. PMID 7490077.

External links

• GeneReviews/NIH/NCBI/UW entry on Achromatopsia
• OMIM entries on Achromatopsia