ROM1

ROM1

Identifikatori

Vanjski ID-jevi

OMIM: 180721 MGI: 97998 HomoloGene: 276 GeneCards: ROM1

Lokacija gena (čovjek)

Hrom.	Hromosom 11 (čovjek)^[1]

Bend	11q12.3	Početak	62,611,722 bp^[1]
Bend	11q12.3	Kraj	62,615,116 bp^[1]

Lokacija gena (miš)

Hrom.	Hromosom 19 (miš)^[2]

Bend	19 A\|19 6.03 cM	Početak	8,904,755 bp^[2]
Bend	19 A\|19 6.03 cM	Kraj	8,906,720 bp^[2]

Obrazac RNK ekspresije

Više referentnih podataka o ekspresiji

Vrste

Čovjek

Miš


6094


19881


ENSG00000149489


ENSMUSG00000071648


Q03395


P32958

RefSeq (mRNK)


NM_000327


NM_009073

RefSeq (bjelančevina)


NP_000318


NP_033099

Lokacija (UCSC)

Chr 11: 62.61 – 62.62 Mb

Chr 19: 8.9 – 8.91 Mb

PubMed pretraga

^[3]

^[4]

Pogledaj/uredi – čovjek

Pogledaj/uredi – miš

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

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

D: Asparaginska kiselina

E: Glutaminska kiselina

Y: Tirozin

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000149489 - Ensembl, maj 2017
^ ^a ^b ^c 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.
^ ^a ^b "Entrez Gene: ROM1 retinal outer segment membrane protein 1".
^ "UniProt, Q03395". Pristupljeno 26. 8. 2021.

Dopunska literatura

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.

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