ROM1
(Preusmjereno sa Protein 1 vanjskog segmenta štapićne membrane)
| ROM1 | |||||||||||||||||||||||||
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| Identifikatori | |||||||||||||||||||||||||
| Aliasi | ROM1 | ||||||||||||||||||||||||
| Vanjski ID-jevi | OMIM: 180721 MGI: 97998 HomoloGene: 276 GeneCards: ROM1 | ||||||||||||||||||||||||
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| Ortolozi | |||||||||||||||||||||||||
| Vrste | Čovjek | Miš | |||||||||||||||||||||||
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| RefSeq (mRNK) | |||||||||||||||||||||||||
| RefSeq (bjelančevina) | |||||||||||||||||||||||||
| Lokacija (UCSC) | Chr 11: 62.61 – 62.62 Mb | Chr 19: 8.9 – 8.91 Mb | |||||||||||||||||||||||
| PubMed pretraga | [3] | [4] | |||||||||||||||||||||||
| Wikipodaci | |||||||||||||||||||||||||
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Protein 1 vanjskog segmenta membrane štapića je protein koji je kod ljudi kodiran genom ROM1.[5][6]
Ovaj gen je član porodice gena specifičnih za fotoreceptore i kodira integralni membranski protein koji se nalazi u fotoreceptorskom obodu očnog diska. Ovaj protein može formirati homodimere ili se može heterodimerizirati s drugim proteinom fotoreceptora, periferin-2 (PRPH2; spora degeneracija mrežnjače; RDS). Bitan je za morfogenezu diska, a može funkcionirati i kao adhezijska molekula uključena u stabilizaciju i zbijanje vanjskih segmenata diskova ili u održavanju zakrivljenosti ruba. Određeni nedostaci ovog gena povezani su s degenerativnom bolesti oka retinitis pigmentosa.[6]
Aminokiaelinska sekvenca
[uredi | uredi izvor]Dužina polipeptidnog lanca je 351 aminokiselina, а molekulska težina 37.205 Da.[7]
| 10 | 20 | 30 | 40 | 50 | ||||
|---|---|---|---|---|---|---|---|---|
| MAPVLPLVLP | LQPRIRLAQG | LWLLSWLLAL | AGGVILLCSG | HLLVQLRHLG | ||||
| TFLAPSCQFP | VLPQAALAAG | AVALGTGLVG | VGASRASLNA | ALYPPWRGVL | ||||
| GPLLVAGTAG | GGGLLVVGLG | LALALPGSLD | EALEEGLVTA | LAHYKDTEVP | ||||
| GHCQAKRLVD | ELQLRYHCCG | RHGYKDWFGV | QWVSSRYLDP | GDRDVADRIQ | ||||
| SNVEGLYLTD | GVPFSCCNPH | SPRPCLQNRL | SDSYAHPLFD | PRQPNQNLWA | ||||
| QGCHEVLLEH | LQDLAGTLGS | MLAVTFLLQA | LVLLGLRYLQ | TALEGLGGVI | ||||
| DAGGETQGYL | FPSGLKDMLK | TAWLQGGVAC | RPAPEEAPPG | EAPPKEDLSE | ||||
| A |
Reference
[uredi | uredi izvor]- 1 2 3 GRCh38: Ensembl release 89: ENSG00000149489 - Ensembl, maj 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000071648 - 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.
- ↑ Bascom RA, Schappert K, McInnes RR (Jul 1993). "Cloning of the human and murine ROM1 genes: genomic organization and sequence conservation". Hum Mol Genet. 2 (4): 385–391. doi:10.1093/hmg/2.4.385. PMID 8504299.
- 1 2 "Entrez Gene: ROM1 retinal outer segment membrane protein 1".
- ↑ "UniProt, Q03395". Pristupljeno 26. 8. 2021.
Dopunska literatura
[uredi | uredi izvor]- Wang Q, Chen Q, Zhao K, et al. (2001). "Update on the molecular genetics of retinitis pigmentosa". Ophthalmic Genet. 22 (3): 133–154. doi:10.1076/opge.22.3.133.2224. PMID 11559856. S2CID 24004113.
- Stone EM, Nichols BE, Streb LM, et al. (1993). "Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13". Nat. Genet. 1 (4): 246–250. doi:10.1038/ng0792-246. PMID 1302019. S2CID 23186865.
- Bascom RA, García-Heras J, Hsieh CL, et al. (1992). "Localization of the photoreceptor gene ROM1 to human chromosome 11 and mouse chromosome 19: sublocalization to human 11q13 between PGA and PYGM". Am. J. Hum. Genet. 51 (5): 1028–35. PMC 1682851. PMID 1415249.
- Bascom RA, Manara S, Collins L, et al. (1992). "Cloning of the cDNA for a novel photoreceptor membrane protein (rom-1) identifies a disk rim protein family implicated in human retinopathies". Neuron. 8 (6): 1171–1184. doi:10.1016/0896-6273(92)90137-3. PMID 1610568. S2CID 22740209.
- Bascom RA, Liu L, Humphries P, et al. (1994). "Polymorphisms and rare sequence variants at the ROM1 locus". Hum. Mol. Genet. 2 (11): 1975–1977. doi:10.1093/hmg/2.11.1975. PMID 7904211.
- Kajiwara K, Berson EL, Dryja TP (1994). "Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci". Science. 264 (5165): 1604–1608. doi:10.1126/science.8202715. PMID 8202715.
- Bascom RA, Liu L, Heckenlively JR, et al. (1996). "Mutation analysis of the ROM1 gene in retinitis pigmentosa". Hum. Mol. Genet. 4 (10): 1895–1902. doi:10.1093/hmg/4.10.1895. PMID 8595413.
- Courseaux A, Grosgeorge J, Gaudray P, et al. (1997). "Definition of the minimal MEN1 candidate area based on a 5-Mb integrated map of proximal 11q13. The European Consortium on Men1, (GENEM 1; Groupe d'Etude des Néoplasies Endocriniennes Multiples de type 1)". Genomics. 37 (3): 354–65. doi:10.1006/geno.1996.0570. PMID 8938448.
- Dryja TP, Hahn LB, Kajiwara K, Berson EL (1997). "Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa". Invest. Ophthalmol. Vis. Sci. 38 (10): 1972–82. PMID 9331261.
- Loewen CJ, Molday RS (2000). "Disulfide-mediated oligomerization of Peripherin/Rds and Rom-1 in photoreceptor disk membranes. Implications for photoreceptor outer segment morphogenesis and degeneration". J. Biol. Chem. 275 (8): 5370–5378. doi:10.1074/jbc.275.8.5370. PMID 10681511.
- Poetsch A, Molday LL, Molday RS (2002). "The cGMP-gated channel and related glutamic acid-rich proteins interact with peripherin-2 at the rim region of rod photoreceptor disc membranes". J. Biol. Chem. 276 (51): 48009–16. doi:10.1074/jbc.M108941200. PMID 11641407.
- 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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- 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): 2121–2127. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Taylor TD, Noguchi H, Totoki Y, et al. (2006). "Human chromosome 11 DNA sequence and analysis including novel gene identification". Nature. 440 (7083): 497–500. doi:10.1038/nature04632. PMID 16554811.