OPN1LW
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Opsin 1, senzitivan na dugačke talasne dužine | |||||||||||
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Identifikatori | |||||||||||
Simboli | OPN1LW; CBP; CBBM; RCP | ||||||||||
Vanjski ID | OMIM: 303900 MGI: 1097692 HomoloGene: 68064 GeneCards: OPN1LW Gene | ||||||||||
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Pregled RNK izražavanja | |||||||||||
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podaci | |||||||||||
Ortolozi | |||||||||||
Vrsta | Čovek | Miš | |||||||||
Entrez | 5956 | 14539 | |||||||||
Ensembl | ENSG00000102076 | ENSMUSG00000031394 | |||||||||
UniProt | P04000 | O35599 | |||||||||
RefSeq (mRNA) | NM_020061 | NM_008106 | |||||||||
RefSeq (protein) | NP_064445 | NP_032132 | |||||||||
Lokacija (UCSC) | Chr X: 153.06 - 153.08 Mb | Chr X: 70.38 - 70.4 Mb | |||||||||
PubMed pretraga | [1] | [2] |
OPN1LW, crveno-senzitivni opsin, je protein koji je kod ljudi kodiran OPN1LW genom.[1]
Ovaj gen kodira pigment iz familije opsina koji apsorbuje svetlost. On se naziva crveni fotopigment kupastih ćelija, ili opsin senzitivan na dugačke talasne dužine. Opsini su grupa G-protein spregnutih receptora sa sedam transmembranskih domena, ekstracelularnim N-terminusnim domenom, i citosolnim C-terminusom. Ovaj gen i opsinski geni srednjih-talasnih dužina su grupisani na X hromozomu. Česte neravnomerne rekombinacije i konverzije gena se mogu javiti između tih sekvenci. X hromozomi mogu da imaju spajanja gena opsina srednje i duge talasne dužine, ili višestruke kopije tih gena. Defekti ovog gena su uzrok parcijalne slepoće za boje.[1]
Povezano
- Opsin
Literatura
Dodatna literatura
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- Dietrich A, Korn B, Poustka A (1992). „Completion of the physical map of Xq28: the location of the gene for L1CAM on the human X chromosome.”. Mamm. Genome 3 (3): 168–72. DOI:10.1007/BF00352462. PMID 1617223.
- Arveiler B, Vincent A, Mandel JL (1989). „Toward a physical map of the Xq28 region in man: linking color vision, G6PD, and coagulation factor VIII genes to an X-Y homology region.”. Genomics 4 (4): 460–71. DOI:10.1016/0888-7543(89)90269-3. PMID 2501212.
- Nathans J, Thomas D, Hogness DS (1986). „Molecular genetics of human color vision: the genes encoding blue, green, and red pigments.”. Science 232 (4747): 193–202. DOI:10.1126/science.2937147. PMID 2937147.
- Adams MD, Kerlavage AR, Fleischmann RD, et al. (1995). „Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence.”. Nature 377 (6547 Suppl): 3–174. DOI:10.1038/377003a0. PMID 7566098.
- Li ZY, Kljavin IJ, Milam AH (1995). „Rod photoreceptor neurite sprouting in retinitis pigmentosa.”. J. Neurosci. 15 (8): 5429–38. PMID 7643192.
- Chen J, Tucker CL, Woodford B, et al. (1994). „The human blue opsin promoter directs transgene expression in short-wave cones and bipolar cells in the mouse retina.”. Proc. Natl. Acad. Sci. U.S.A. 91 (7): 2611–5. DOI:10.1073/pnas.91.7.2611. PMC 43419. PMID 8146162.
- Nathans J, Maumenee IH, Zrenner E, et al. (1993). „Genetic heterogeneity among blue-cone monochromats.”. Am. J. Hum. Genet. 53 (5): 987–1000. PMC 1682301. PMID 8213841.
- Ladekjaer-Mikkelsen AS, Rosenberg T, Jørgensen AL (1996). „A new mechanism in blue cone monochromatism.”. Hum. Genet. 98 (4): 403–8. DOI:10.1007/s004390050229. PMID 8792812.
- Ferreira PA, Nakayama TA, Pak WL, Travis GH (1996). „Cyclophilin-related protein RanBP2 acts as chaperone for red/green opsin.”. Nature 383 (6601): 637–40. DOI:10.1038/383637a0. PMID 8857542.
- Voegel JJ, Heine MJ, Tini M, et al. (1998). „The coactivator TIF2 contains three nuclear receptor-binding motifs and mediates transactivation through CBP binding-dependent and -independent pathways.”. EMBO J. 17 (2): 507–19. DOI:10.1093/emboj/17.2.507. PMC 1170401. PMID 9430642.
- Zhao Z, Hewett-Emmett D, Li WH (1998). „Frequent gene conversion between human red and green opsin genes.”. J. Mol. Evol. 46 (4): 494–6. DOI:10.1007/PL00013147. PMID 9541545.
- Nakayama TA, Zhang W, Cowan A, Kung M (1999). „Mutagenesis studies of human red opsin: trp-281 is essential for proper folding and protein-retinal interactions.”. Biochemistry 37 (50): 17487–94. DOI:10.1021/bi982077u. PMID 9860863.
- John SK, Smith JE, Aguirre GD, Milam AH (2000). „Loss of cone molecular markers in rhodopsin-mutant human retinas with retinitis pigmentosa.”. Mol. Vis. 6: 204–15. PMID 11063754.
- Ueyama H, Kuwayama S, Imai H, et al. (2002). „Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies.”. Biochem. Biophys. Res. Commun. 294 (2): 205–9. DOI:10.1016/S0006-291X(02)00458-8. PMID 12051694.
- Fitzgerald KA, Rowe DC, Barnes BJ, et al. (2003). „LPS-TLR4 signaling to IRF-3/7 and NF-kappaB involves the toll adapters TRAM and TRIF.”. J. Exp. Med. 198 (7): 1043–55. DOI:10.1084/jem.20031023. PMC 2194210. PMID 14517278.
- Long J, Wang G, Matsuura I, et al. (2004). „Activation of Smad transcriptional activity by protein inhibitor of activated STAT3 (PIAS3).”. Proc. Natl. Acad. Sci. U.S.A. 101 (1): 99–104. DOI:10.1073/pnas.0307598100. PMC 314145. PMID 14691252.
- Ross MT, Grafham DV, Coffey AJ, et al. (2005). „The DNA sequence of the human X chromosome.”. Nature 434 (7031): 325–37. DOI:10.1038/nature03440. PMC 2665286. PMID 15772651.
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Drugi | Moždano specifični angiogenezni inhibitor (1, 2, 3) • Cadherin (1, 2, 3) • Kalcitonin • CALCRL • CD97 • Kortikotropin-oslobađajući hormon (1, 2) • EMR (1, 2, 3) • Glukagon (GR, GIPR, GLP1R, GLP2R) • Hormon rasta oslobađajući hormon • PACAPR1 • GPR • Latrofilin (1, 2, 3, ELTD1) • Metuselah-slični proteini • Paratiroidni hormon (1, 2) • Sekretin • Vazoaktivni intestinalni peptid (1, 2) |
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glutamat / feromon
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Frizzled / Zaglađeni
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