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OPTC
Identifiers
Aliases	OPTC, OPT, opticin
External IDs	OMIM: 605127; MGI: 2151113; HomoloGene: 8652; GeneCards: OPTC; OMA:OPTC - orthologs
Gene location (Human) Chr. Chromosome 1 (human) Band 1q32.1 Start 203,494,153 bp End 203,508,949 bp
Gene location (Mouse) Chr. Chromosome 1 (mouse) Band 1 E4|1 58.02 cM Start 133,824,937 bp End 133,835,737 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tibialis anterior muscle mucosa of ileum deltoid muscle gonad smooth muscle tissue placenta muscle layer of sigmoid colon body of uterus myometrium left uterine tube Top expressed in ascending aorta aortic valve lens epithelium of ciliary body embryo neural layer of retina embryo urinary bladder iris tunica media of zone of aorta More reference expression data BioGPS More reference expression data
Gene ontology Molecular function extracellular matrix structural constituent Cellular component extracellular region extracellular matrix Biological process extracellular matrix disassembly Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 26254 269120 Ensembl ENSG00000188770 ENSMUSG00000010311 UniProt Q9UBM4 Q920A0 RefSeq (mRNA) NM_014359 NM_001160420 NM_001160421 NM_001160422 NM_054076 NM_001395557 NM_001395558 RefSeq (protein) NP_055174 NP_001153892 NP_001153893 NP_001153894 NP_473417 NP_001382486 NP_001382487 Location (UCSC) Chr 1: 203.49 – 203.51 Mb Chr 1: 133.82 – 133.84 Mb PubMed search
Wikidata
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Opticin is a protein that in humans is encoded by the OPTC gene.

Opticin belongs to class III of the small leucine-rich repeat protein (SLRP) family. Members of this family are typically associated with the extracellular matrix. Opticin is present in significant quantities in the vitreous of the eye and also localizes to the cornea, iris, ciliary body, optic nerve, choroid, retina, and fetal liver. Opticin may noncovalently bind collagen fibrils and regulate fibril morphology, spacing, and organization. The opticin gene is mapped to a region of chromosome 1 that is associated with the inherited eye diseases age-related macular degeneration (AMD) and posterior column ataxia with retinosa pigmentosa (AXPC1).

References

1. ^ GRCh38: Ensembl release 89: ENSG00000188770 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000010311 – 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. Reardon AJ, Le Goff M, Briggs MD, McLeod D, Sheehan JK, Thornton DJ, Bishop PN (Feb 2000). "Identification in vitreous and molecular cloning of opticin, a novel member of the family of leucine-rich repeat proteins of the extracellular matrix". J Biol Chem. 275 (3): 2123–9. doi:10.1074/jbc.275.3.2123. PMID 10636917.
6. ^ "Entrez Gene: OPTC opticin".

Further reading

• Hobby P, Wyatt MK, Gan W, et al. (2000). "Cloning, modeling, and chromosomal localization for a small leucine-rich repeat proteoglycan (SLRP) family member expressed in human eye". Mol. Vis. 6: 72–8. PMID 10837509.
• Friedman JS, Ducharme R, Raymond V, Walter MA (2000). "Isolation of a novel iris-specific and leucine-rich repeat protein (oculoglycan) using differential selection". Invest. Ophthalmol. Vis. Sci. 41 (8): 2059–66. PMID 10892843.
• Armerding D, Fuhlbrigge RC, Kieffer JD, Kupper TS (2001). "Tonsillar B cells do not express PSGL-1, but a significant fraction displays the cutaneous lymphocyte antigen and exhibits effective E- and P-selectin ligand activity". Int. Arch. Allergy Immunol. 126 (1): 78–90. doi:10.1159/000049497. PMID 11641609. S2CID 45610233.
• Friedman JS, Faucher M, Hiscott P, et al. (2002). "Protein localization in the human eye and genetic screen of opticin". Hum. Mol. Genet. 11 (11): 1333–42. doi:10.1093/hmg/11.11.1333. PMID 12019215.
• 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): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Le Goff MM, Hindson VJ, Jowitt TA, et al. (2003). "Characterization of opticin and evidence of stable dimerization in solution". J. Biol. Chem. 278 (46): 45280–7. doi:10.1074/jbc.M303117200. PMID 12951322.
• Ramesh S, Bonshek RE, Bishop PN (2004). "Immunolocalisation of opticin in the human eye". The British Journal of Ophthalmology. 88 (5): 697–702. doi:10.1136/bjo.2003.031989. PMC 1772128. PMID 15090426.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Liu T, Qian WJ, Gritsenko MA, et al. (2006). "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry". J. Proteome Res. 4 (6): 2070–80. doi:10.1021/pr0502065. PMC 1850943. PMID 16335952.
• Acharya M, Mookherjee S, Bhattacharjee A, et al. (2007). "Evaluation of the OPTC gene in primary open angle glaucoma: functional significance of a silent change". BMC Mol. Biol. 8: 21. doi:10.1186/1471-2199-8-21. PMC 1838427. PMID 17359525.

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