CRB1

Crumbs family member 1, photoreceptor morphogenesis associated
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 4UU5​
Identifiers
Symbols	CRB1 ; LCA8; RP12
External IDs	OMIM: 604210 MGI: 2136343 HomoloGene: 8092 GeneCards: CRB1 Gene
Gene ontology Molecular function • calcium ion binding • protein binding Cellular component • extracellular region • microvillus • integral component of membrane • apical plasma membrane Biological process • plasma membrane organization • establishment or maintenance of cell polarity • cell-cell signaling • eye photoreceptor cell development Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	23418	170788
Ensembl	ENSG00000134376	ENSMUSG00000063681
UniProt	P82279	Q8VHS2
RefSeq (mRNA)	NM_001193640	NM_133239
RefSeq (protein)	NP_001180569	NP_573502
Location (UCSC)	Chr 1: 197.27 – 197.48 Mb	Chr 1: 139.2 – 139.38 Mb
PubMed search

Crumbs homolog 1 is a protein that in humans is encoded by the CRB1 gene.^[1][2][3]

This gene encodes a protein which is similar to the Drosophila crumbs protein and localizes to the inner segment of mammalian photoreceptors. In Drosophila crumbs localizes to the stalk of the fly photoreceptor and may be a component of the molecular scaffold that controls proper development of polarity in the eye. Mutations in this gene are associated with a severe form of retinitis pigmentosa, RP12, and with Leber congenital amaurosis. Alternatively spliced transcript variants have been observed but their full-length nature has yet to be determined.^[3] One small study suggests that mutations in this gene are associated with keratoconus in patients that already have Leber's congenital amaurosis.^[4]

References

1. den Hollander AI, van Driel MA, de Kok YJ, van de Pol DJ, Hoyng CB, Brunner HG, Deutman AF, Cremers FP (Jul 1999). "Isolation and mapping of novel candidate genes for retinal disorders using suppression subtractive hybridization". Genomics 58 (3): 240–9. doi:10.1006/geno.1999.5823. PMID 10373321.
2. den Hollander AI, ten Brink JB, de Kok YJ, van Soest S, van den Born LI, van Driel MA, van de Pol DJ, Payne AM, Bhattacharya SS, Kellner U, Hoyng CB, Westerveld A, Brunner HG, Bleeker-Wagemakers EM, Deutman AF, Heckenlively JR, Cremers FP, Bergen AA (Oct 1999). "Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)". Nat Genet 23 (2): 217–21. doi:10.1038/13848. PMID 10508521.
3. "Entrez Gene: CRB1 crumbs homolog 1 (Drosophila)".
4. McMahon TT, Kim LS, Fishman GA, Stone EM, Zhao XC, Yee R, Malicki J (April 2009). "CRB1 GENE MUTATIONS ARE ASSOCIATED WITH KERATOCONUS IN PATIENTS WITH LEBER CONGENITAL AMAUROSIS". Invest. Ophthalmol. Vis. Sci. 50 (7): 3185–7. doi:10.1167/iovs.08-2886. PMID 19407021.

External links

• GeneReviews/NIH/NCBI/UW entry on Retinitis Pigmentosa Overview

Further reading

• den Hollander AI, Davis J, van der Velde-Visser SD, et al. (2005). "CRB1 mutation spectrum in inherited retinal dystrophies". Hum. Mutat. 24 (5): 355–69. doi:10.1002/humu.20093. PMID 15459956.
• van Soest S, Ingeborgh van den Born L, Gal A, et al. (1995). "Assignment of a gene for autosomal recessive retinitis pigmentosa (RP12) to chromosome 1q31-q32.1 in an inbred and genetically heterogeneous disease population". Genomics 22 (3): 499–504. doi:10.1006/geno.1994.1422. PMID 8001962.
• van Soest S, te Nijenhuis S, van den Born LI, et al. (1996). "Fine mapping of the autosomal recessive retinitis pigmentosa locus (RP12) on chromosome 1q; exclusion of the phosducin gene (PDC)". Cytogenet. Cell Genet. 73 (1–2): 81–5. doi:10.1159/000134313. PMID 8646891.
• Lotery AJ, Jacobson SG, Fishman GA, et al. (2001). "Mutations in the CRB1 gene cause Leber congenital amaurosis". Arch. Ophthalmol. 119 (3): 415–20. doi:10.1001/archopht.119.3.415. PMID 11231775.
• den Hollander AI, Heckenlively JR, van den Born LI, et al. (2001). "Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 (CRB1) Gene". Am. J. Hum. Genet. 69 (1): 198–203. doi:10.1086/321263. PMC 1226034. PMID 11389483.
• Lotery AJ, Malik A, Shami SA, et al. (2001). "CRB1 mutations may result in retinitis pigmentosa without para-arteriolar RPE preservation". Ophthalmic Genet. 22 (3): 163–9. doi:10.1076/opge.22.3.163.2222. PMID 11559858.
• den Hollander AI, Johnson K, de Kok YJ, et al. (2002). "CRB1 has a cytoplasmic domain that is functionally conserved between human and Drosophila". Hum. Mol. Genet. 10 (24): 2767–73. doi:10.1093/hmg/10.24.2767. PMID 11734541.
• Izaddoost S, Nam SC, Bhat MA, et al. (2002). "Drosophila Crumbs is a positional cue in photoreceptor adherens junctions and rhabdomeres". Nature 416 (6877): 178–83. doi:10.1038/nature720. PMID 11850624.
• Roh MH, Makarova O, Liu CJ, et al. (2002). "The Maguk protein, Pals1, functions as an adapter, linking mammalian homologues of Crumbs and Discs Lost". J. Cell Biol. 157 (1): 161–72. doi:10.1083/jcb.200109010. PMC 2173254. PMID 11927608.
• Gerber S, Perrault I, Hanein S, et al. (2003). "A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis". Ophthalmic Genet. 23 (4): 225–35. doi:10.1076/opge.23.4.225.13879. PMID 12567265.
• Khaliq S, Abid A, Hameed A, et al. (2003). "Mutation screening of Pakistani families with congenital eye disorders". Exp. Eye Res. 76 (3): 343–8. doi:10.1016/S0014-4835(02)00304-4. PMID 12573663.
• Jacobson SG, Cideciyan AV, Aleman TS, et al. (2003). "Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination". Hum. Mol. Genet. 12 (9): 1073–8. doi:10.1093/hmg/ddg117. PMID 12700176.
• Bernal S, Calaf M, Garcia-Hoyos M, et al. (2003). "Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa". J. Med. Genet. 40 (7): e89. doi:10.1136/jmg.40.7.e89. PMC 1735523. PMID 12843338.
• Hanein S, Perrault I, Gerber S, et al. (2004). "Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis". Hum. Mutat. 23 (4): 306–17. doi:10.1002/humu.20010. PMID 15024725.
• McKay GJ, Clarke S, Davis JA, et al. (2005). "Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene". Invest. Ophthalmol. Vis. Sci. 46 (1): 322–8. doi:10.1167/iovs.04-0734. PMID 15623792.
• Kantardzhieva A, Gosens I, Alexeeva S, et al. (2005). "MPP5 recruits MPP4 to the CRB1 complex in photoreceptors". Invest. Ophthalmol. Vis. Sci. 46 (6): 2192–201. doi:10.1167/iovs.04-1417. PMID 15914641.
• Booij JC, Florijn RJ, ten Brink JB, et al. (2006). "Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa". J. Med. Genet. 42 (11): e67. doi:10.1136/jmg.2005.035121. PMC 1735944. PMID 16272259.