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; OMA:PDE6C - orthologs
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 38,121,229 bp[2] End 38,172,406 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte testicle cerebellar hemisphere right hemisphere of cerebellum ectocervix tibial nerve right lung gastrocnemius muscle canal of the cervix body of uterus Top expressed in neural layer of retina pineal gland epithelium of lens yolk sac retinal pigment epithelium choroid plexus of fourth ventricle embryo liver primitive streak iris More reference expression data BioGPS n/a
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 plasma 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: 38.12 – 38.17 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. Bibcode:2004Natur.429..375D. 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. Bibcode:2002PNAS...9916899M. 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. S2CID 25064683.
• 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. S2CID 86278856.
• 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