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OPTC
Identifikatori
Aliasi	OPTC
Vanjski ID-jevi	OMIM: 605127 MGI: 2151113 HomoloGene: 8652 GeneCards: OPTC
Lokacija gena (čovjek)
Hrom.	Hromosom 1 (čovjek)
Kraj	203,508,949 bp
Lokacija gena (miš)
Hrom.	Hromosom 1 (miš)
Kraj	133,835,737 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• extracellular matrix structural constituent;
Ćelijska komponenta	• extracellular region; • GO:0005578 Vanćelijski matriks;
Biološki proces	• extracellular matrix disassembly;
	Izvori:Amigo / QuickGO
Ortolozi
	26254
	269120
	ENSG00000188770
	ENSMUSG00000010311
	Q9UBM4
	Q920A0
	NM_014359
NM_001160420; NM_001160421; NM_001160422; NM_054076; NM_001395557;
	NM_001395558
	NP_055174
NP_001153892; NP_001153893; NP_001153894; NP_473417; NP_001382486;
	NP_001382487
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Opticin jest protein koji je kod ljudi kodiran genom OPTC sa hromosoma 1.^[5]^[6]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 332 aminokiseline, a molekulska težina 37.261 Da.^[7]

C: Cistein

D: Asparaginska kiselina

E: Glutaminska kiselina

F: Fenilalanin

G: Glicin

H: Histidin

I: Izoleucin

K: Lizin

L: Leucin

M: Metionin

N: Asparagin

P: Prolin

Q: Glutamin

R: Arginin

S: Serin

T: Treonin

V: Valin

W: Triptofan

Y: Tirozin

10	20	30	40	50
MRLLAFLSLL	ALVLQETGTA	SLPRKERKRR	EEQMPREGDS	FEVLPLRNDV
LNPDNYGEVI	DLSNYEELTD	YGDQLPEVKV	TSLAPATSIS	PAKSTTAPGT
PSSNPTMTRP	TTAGLLLSSQ	PNHGLPTCLV	CVCLGSSVYC	DDIDLEDIPP
LPRRTAYLYA	RFNRISRIRA	EDFKGLTKLK	RIDLSNNLIS	SIDNDAFRLL
HALQDLILPE	NQLEALPVLP	SGIEFLDVRL	NRLQSSGIQP	AAFRAMEKLQ
FLYLSDNLLD	SIPGPLPLSL	RSVHLQNNLI	ETMQRDVFCD	PEEHKHTRRQ
LEDIRLDGNP	INLSLFPSAY	FCLPRLPIGR	FT

Funkcija

Opticin pripada klasi III porodice mali leucinom bogati ponavljajući protein (SLRP). Članovi ove porodice su tipski povezani sa vanćelijskim matriksom. Opticin je prisutan u značajnim količinama u staklastom tijelu očiju, a također i u rožnjači, irisu, cilijarnom tijelu, očnom živcu, horiodei, mrežnjači i fetusnoj jetri. Opticin može nekovalentno vezati kolagenske fibrile i regulirati morfologiju razmak i organizaciju vlakana. Opticinski gen mapiran je u regiji hromosoma 1 koja je povezana s nasljednom bolešću oka starosnom degeneracijom makule (AMD) i ataksijom stražnjeg stupca s retinskom pigmentozom (AXPC1).^[6]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000188770 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000010311 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ ^a ^b "Entrez Gene: OPTC opticin".
^ "UniProt, Q9UBM4" (jezik: engleski). Pristupljeno 15. 12. 2021.

Dopunska literatura

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. 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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000188770 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000010311 - Ensembl, maj 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.

[pmid10636917-5] 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.

[entrez-6] "Entrez Gene: OPTC opticin".

[UniProt-7] "UniProt, Q9UBM4" (jezik: engleski). Pristupljeno 15. 12. 2021.

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OPTC

Aminokiselinska sekvenca

Funkcija

Reference

Dopunska literatura

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