CRB1

CRB1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4UU5
Identifiers
Aliases	CRB1, LCA8, RP12, crumbs 1, cell polarity complex component, crumbs cell polarity complex component 1, CRB1-B, CRB1-C, CRB1-A
External IDs	OMIM: 604210; MGI: 2136343; HomoloGene: 8092; GeneCards: CRB1; OMA:CRB1 - orthologs
Gene location (Human) Chr. Chromosome 1 (human) Band 1q31.3 Start 197,268,204 bp End 197,478,455 bp
Gene location (Mouse) Chr. Chromosome 1 (mouse) Band 1 E4|1 60.87 cM Start 139,197,056 bp End 139,377,100 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence ventricular zone endothelial cell cerebellar hemisphere right hemisphere of cerebellum amygdala caudate nucleus anterior cingulate cortex right frontal lobe nucleus accumbens Top expressed in neural layer of retina retinal pigment epithelium epithelium of lens photoreceptor layer of retina zygote secondary oocyte pineal gland substantia nigra lumbar subsegment of spinal cord primary oocyte More reference expression data BioGPS More reference expression data
Gene ontology Molecular function calcium ion binding protein binding Cellular component integral component of membrane extracellular region microvillus plasma membrane apical plasma membrane membrane photoreceptor inner segment protein-containing complex Biological process establishment or maintenance of cell polarity cell-cell signaling membrane organization plasma membrane organization eye photoreceptor cell development heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules establishment or maintenance of epithelial cell apical/basal polarity Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 23418 170788 Ensembl ENSG00000134376 ENSMUSG00000063681 UniProt P82279 Q8VHS2 RefSeq (mRNA) NM_001193640 NM_001257965 NM_001257966 NM_012076 NM_201253 NM_133239 RefSeq (protein) NP_001180569 NP_001244894 NP_001244895 NP_957705 NP_573502 Location (UCSC) Chr 1: 197.27 – 197.48 Mb Chr 1: 139.2 – 139.38 Mb PubMed search
Wikidata
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Crumbs homolog 1 is a protein that in humans is encoded by the CRB1 gene.

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. One small study suggests that mutations in this gene are associated with keratoconus in patients that already have Leber's congenital amaurosis.

External links

• GeneReviews/NIH/NCBI/UW entry on Retinitis Pigmentosa Overview
• Human CRB1 genome location and CRB1 gene details page in the UCSC Genome Browser.

Further reading

• den Hollander AI, Davis J, van der Velde-Visser SD, Zonneveld MN, Pierrottet CO, Koenekoop RK, et al. (2005). "CRB1 mutation spectrum in inherited retinal dystrophies". Hum. Mutat. 24 (5): 355–69. doi:10.1002/humu.20093. PMID 15459956. S2CID 40014453.
• van Soest S, Ingeborgh van den Born L, Gal A, Farrar GJ, Bleeker-Wagemakers LM, Westerveld 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, Bleeker-Wagemakers E, Sharp E, Sandkuijl L, 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, Weleber RG, Fulton AB, Namperumalsamy P, 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, De Kok YJ, Van Der Velde-Visser SD, Kellner U, 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, Sindhi M, Chohan B, Maqbool C, 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. S2CID 38623616.
• den Hollander AI, Johnson K, de Kok YJ, Klebes A, Brunner HG, Knust E, 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, Bellen HJ, Choi KW (2002). "Drosophila Crumbs is a positional cue in photoreceptor adherens junctions and rhabdomeres". Nature. 416 (6877): 178–83. Bibcode:2002Natur.416..178I. doi:10.1038/nature720. PMID 11850624. S2CID 4334240.
• Roh MH, Makarova O, Liu CJ, Shin K, Lee S, Laurinec S, 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, Shalev S, Zlotogora J, Barbet F, 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. S2CID 25525786.
• Khaliq S, Abid A, Hameed A, Anwar K, Mohyuddin A, Azmat Z, 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, Pianta MJ, Sumaroka A, Schwartz SB, 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, Garcia-Sandoval B, Rosell J, Adan A, 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, Tanguy G, Barbet F, Ducroq D, 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" (PDF). Hum. Mutat. 23 (4): 306–17. doi:10.1002/humu.20010. hdl:10400.17/2439. PMID 15024725. S2CID 10313190.
• McKay GJ, Clarke S, Davis JA, Simpson DA, Silvestri G (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, Punte IM, Versteeg I, Krieger E, 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, Loves W, Meire F, Van Schooneveld MJ, 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.