Opticin

Opticin is a protein that in humans is encoded by the OPTC gene.^[5][6]

AliasesOPTC, OPT, opticin

External IDsOMIM: 605127; MGI: 2151113; HomoloGene: 8652; GeneCards: OPTC; OMA:OPTC - orthologs

Chr.Chromosome 1 (human)^[1]

End203,508,949 bp^[1]

Quick facts OPTC, Identifiers ...

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)[1] Band 1q32.1 Start 203,494,153 bp[1] End 203,508,949 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1 E4|1 58.02 cM Start 133,824,937 bp[2] End 133,835,737 bp[2]
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 [3] [4]
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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).^[6]