Property Summary

NCBI Gene PubMed Count 68
PubMed Score 174.60
PubTator Score 119.29

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (10)

Disease log2 FC p
oligodendroglioma 1.800 7.1e-11
astrocytoma 1.400 1.3e-10
osteosarcoma -2.595 1.6e-06
posterior fossa group B ependymoma 3.100 7.7e-15
medulloblastoma, large-cell -1.400 2.5e-02
group 4 medulloblastoma -3.100 2.6e-08
non primary Sjogren syndrome sicca -1.100 3.0e-02
lung carcinoma 1.400 8.4e-21
pituitary cancer 1.300 4.0e-02
psoriasis -1.400 9.1e-13

Gene RIF (47)

PMID Text
26312378 Comprehensive retinal dystrophy panel revealed a homozygous mutation in CRB1 (p.Pro836Thr:c.2506C>A) in both twins.
26165328 Two novel variants were detected: c.2536G>T (p.G846X) in the CRB1 gene and c.4929delA (p.Lys1643fsX2) in the CEP290 gene.
25760605 Removal of this side chain enhances the binding affinity by more than fivefold, suggesting that access of Crb to Pals1 may be regulated by intradomain contacts or by protein-protein interaction.
25323024 The phenotypes of these novel mutations for early-onset retinal dystrophy (EORD) are typical of CRB1-associated EORD
24811962 This report illustrates a novel presentation of a macular dystrophy caused by CRB1 mutations affecting 2 siblings exhibiting a relatively well-developed retinal structure and preservation of generalized retinal function.
24715753 The results from this study show that patients with Leber congenital amaurosis carry CRB1 null mutations more frequently than patients with retinitis pigmentosa.
24664696 Mutations in CRB1 and ABCA4 were found in a Swedish family with Leber congenital amaurosis and Stargardt disease.
24565864 Study showed that CRB1 and CRB2 in human retinas have an opposite pattern of expression in Muller glia and photoreceptor cells compared with mouse retinas, and that Crb2 influences the severity of the murine Crb1-linked retinal dystrophies.
24535598 Macular nummular pigmentation is a gene-specific indication for CRB1associated retinal dystrophy.
24512366 CRB1 mutations may be associated with intraretinal cystoid spaces. The use of carbonic anhydrase inhibitors can result in improved visual acuity in some patients.
24508727 the mammalian apical CRB1 complex might control retinogenesis and prevents onset of Leber congenital amaurosis or retinitis pigmentosa.
24138049 Retinal degenerations associated with nanophthalmos and hyperopia, or with keratoconus, can serve as further clinical cues to mutations in CRB1.
23871396 We report the case of a 15-year-old girl affected by CRB1 gene-negative retinitis pigmentosa and Coats-like exudative vasculopathy
23767994 The phenotypic spectrum of recessive CRB1 mutation includes childhood cone-rod dystrophy with macular cystic degeneration and the associated ERG can be electronegative.
23592920 R764H is a novel mutation associated with CRB1-related autosomal recessive retinitis pigmentosa.
23449718 we showed that mutations in CRB1 are a common cause of eary onset retinal degeneration among the Jewish and Arab-Muslim populations in Israel and the Palestinian Territories
23443024 Four patients with Leber congenital amaurosis were homozygous for a novel mutation in the CRB1 gene, while of two cases with Stargardt disease, one was homozygous for c.5461-10T>C in the ABCA4 gene and another was carrier of the same mutation.
23379534 study represents the most complete mutational screening of CRB1 in a Spanish LCA and EORP cohort, allowing us to establish gene-specific frequencies and to provide a wide spectrum of CRB1 mutations in the Spanish population
23362850 We report a novel CRB1 mutation in inherited retinal dystrophy in a Lebanese family.
23077403 A novel homozygous missense mutation (p.Gly833Asp) in the CRB1 gene is responsible for retinitis pigmentosa, nanophthalmos, and optic disc drusen in a Turkish family.
23001562 there is no clear genotype-phenotype correlation for CRB1 mutations, which suggests that other components of the CRB complex may influence the severity of retinal disease
22876132 CRB1 (c.2548 G>A) is the likely disease-causing gene in one non-consanguineous Australian pedigree with autosomal recessive retinitis pigmentosa.
22863181 Mutation in CRB1 gene is associated with Stargardt Disease.
22219627 Digenic and triallelic mutations of CRB1 and SPATA7 were detected in a Chinese family with Leber congenital amaurosis. The results imply that CRB1 and SPATA7 may not interact with each other directly.
22065545 A review of seven novel mutations and classification of over 150 reported CRB1 sequence variants that were found in more that 240 patients with inherited retinal dystrophies.
21757580 CRB1 mutations lead to early-onset severe loss of vision with thickened, disorganized, nonseeing retina. Impaired peripheral vision can persist in late disease stages.
20956273 Mutations in CRB1 are associated with a range of recessively inherited retinal dystrophies, including Leber congenital amaurosis, childhood- and juvenile-onset rod-cone and cone-rod dystrophies.
20816195 Observational study of gene-disease association. (HuGE Navigator)
20805571 The corneas of human carriers of CRB1 mutations display shape deviations compared with what has been observed in normal individuals
20801516 Observational study of genetic testing. (HuGE Navigator)
20591486 Observational study of genetic testing. (HuGE Navigator)
19753312 Observational study of gene-disease association. (HuGE Navigator)
19407021 Although the results cannot exclude other gene mutations, they suggest that LCA patients with a CRB1 mutation may have a particular susceptibility to keratoconus.
18682814 This study presents the case of a compound heterozygous fetus for two mutations in CRB1 (1q3.1-q32.2).
18334942 Two distinct retinal dystrophies with mutations affecting two different genes ABCA4 and CRB1 genes cosegregated in this family.
17988153 overexpression of human CRB1 and related isoforms, CRB2 and CRB3, had no effect on the levels of presenilin complex components, on NCT maturation or on presenilin endoproteolysis
17724218 Observational study of gene-disease association. (HuGE Navigator)
16936081 In human heterozygotes of CRB1 mutations (parents of offspring with Leber congenital amaurosis), distinctive regional retinal dysfunctions were found by multifocal ERG (electroretinography) measurements
16767206 Observational study of genetic testing. (HuGE Navigator)
16543197 Mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amau
16505055 Microarray-based mutation detection allowed the identification of 32% of LCA sequence variants and represents an efficient first-pass screening tool. Mutations in CRB1, and to a lesser extent, in GUCY2D, underlie most LCA cases in this cohort
16272259 AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 mutations may have roles in juvenile retinitis pigmentosa
15623792 The PPCRA (Pigmented paravenous chorioretinal atrophy) phenotype is associated with a Val162Met mutation in CRB1 which is likely to affect the structure of the CRB1 protein.
15459956 REVIEW--overview of the currently known CRB1 sequence variants and prediction of their effects: a genotype-phenotype correlation model for CRB1 mutations
12567265 Mutation disrupting the cytoplasmic domain of CRB1 is associated with Leber congenital amaurosis in arabs
11850624 intracellular domain of CRB1 behaves similarly to its Drosophila counterpart when overexpressed in the fly eye
11231775 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MALKNINYLLIFYLSFSLLIYIKNSFCNKNNTRCLSNSCQNNSTCKDFSKDNDCSCSDTANNLDKDCDNM      1 - 70
KDPCFSNPCQGSATCVNTPGERSFLCKCPPGYSGTICETTIGSCGKNSCQHGGICHQDPIYPVCICPAGY     71 - 140
AGRFCEIDHDECASSPCQNGAVCQDGIDGYSCFCVPGYQGRHCDLEVDECASDPCKNEATCLNEIGRYTC    141 - 210
ICPHNYSGVNCELEIDECWSQPCLNGATCQDALGAYFCDCAPGFLGDHCELNTDECASQPCLHGGLCVDG    211 - 280
ENRYSCNCTGSGFTGTHCETLMPLCWSKPCHNNATCEDSVDNYTCHCWPGYTGAQCEIDLNECNSNPCQS    281 - 350
NGECVELSSEKQYGRITGLPSSFSYHEASGYVCICQPGFTGIHCEEDVNECSSNPCQNGGTCENLPGNYT    351 - 420
CHCPFDNLSRTFYGGRDCSDILLGCTHQQCLNNGTCIPHFQDGQHGFSCLCPSGYTGSLCEIATTLSFEG    421 - 490
DGFLWVKSGSVTTKGSVCNIALRFQTVQPMALLLFRSNRDVFVKLELLSGYIHLSIQVNNQSKVLLFISH    491 - 560
NTSDGEWHFVEVIFAEAVTLTLIDDSCKEKCIAKAPTPLESDQSICAFQNSFLGGLPVGMTSNGVALLNF    561 - 630
YNMPSTPSFVGCLQDIKIDWNHITLENISSGSSLNVKAGCVRKDWCESQPCQSRGRCINLWLSYQCDCHR    631 - 700
PYEGPNCLREYVAGRFGQDDSTGYVIFTLDESYGDTISLSMFVRTLQPSGLLLALENSTYQYIRVWLERG    701 - 770
RLAMLTPNSPKLVVKFVLNDGNVHLISLKIKPYKIELYQSSQNLGFISASTWKIEKGDVIYIGGLPDKQE    771 - 840
TELNGGFFKGCIQDVRLNNQNLEFFPNPTNNASLNPVLVNVTQGCAGDNSCKSNPCHNGGVCHSRWDDFS    841 - 910
CSCPALTSGKACEEVQWCGFSPCPHGAQCQPVLQGFECIANAVFNGQSGQILFRSNGNITRELTNITFGF    911 - 980
RTRDANVIILHAEKEPEFLNISIQDSRLFFQLQSGNSFYMLSLTSLQSVNDGTWHEVTLSMTDPLSQTSR    981 - 1050
WQMEVDNETPFVTSTIATGSLNFLKDNTDIYVGDRAIDNIKGLQGCLSTIEIGGIYLSYFENVHGFINKP   1051 - 1120
QEEQFLKISTNSVVTGCLQLNVCNSNPCLHGGNCEDIYSSYHCSCPLGWSGKHCELNIDECFSNPCIHGN   1121 - 1190
CSDRVAAYHCTCEPGYTGVNCEVDIDNCQSHQCANGATCISHTNGYSCLCFGNFTGKFCRQSRLPSTVCG   1191 - 1260
NEKTNLTCYNGGNCTEFQTELKCMCRPGFTGEWCEKDIDECASDPCVNGGLCQDLLNKFQCLCDVAFAGE   1261 - 1330
RCEVDLADDLISDIFTTIGSVTVALLLILLLAIVASVVTSNKRATQGTYSPSRQEKEGSRVEMWNLMPPP   1331 - 1400
AMERLI                                                                   1401 - 1406
//

Text Mined References (84)

PMID Year Title
26312378 2015 CRB1-Related Maculopathy With Cystoid Macular Edema.
26165328 Leber congenital amaurosis: first genotyped Hungarian patients and report of 2 novel mutations in the CRB1 and CEP290 genes.
25760605 2015 Structures of the human Pals1 PDZ domain with and without ligand suggest gated access of Crb to the PDZ peptide-binding groove.
25323024 2015 Novel nonsense and splice site mutations in CRB1 gene in two Japanese patients with early-onset retinal dystrophy.
24925725 2014 Lupus nephritis susceptibility loci in women with systemic lupus erythematosus.
24811962 2014 Whole exome sequencing identifies CRB1 defect in an unusual maculopathy phenotype.
24715753 2014 Novel mutations of CRB1 in Chinese families presenting with retinal dystrophies.
24664696 2014 Genetic heterogeneity and clinical outcome in a Swedish family with retinal degeneration caused by mutations in CRB1 and ABCA4 genes.
24565864 2014 CRB2 acts as a modifying factor of CRB1-related retinal dystrophies in mice.
24535598 2014 Detection of CRB1 mutations in families with retinal dystrophy through phenotype-oriented mutational screening.
24512366 2015 Retinal Dystrophy with Intraretinal Cystoid Spaces Associated with Mutations in the Crumbs Homologue (CRB1) Gene.
24508727 2014 The CRB1 and adherens junction complex proteins in retinal development and maintenance.
24138049 CRB1: one gene, many phenotypes.
23871396 2013 A case of CRB1-negative Coats-like retinitis pigmentosa.
23767994 2014 Childhood cone-rod dystrophy with macular cystic degeneration from recessive CRB1 mutation.
23592920 2013 A novel homozygous R764H mutation in crumbs homolog 1 causes autosomal recessive retinitis pigmentosa.
23449718 2013 Mutations in CRB1 are a relatively common cause of autosomal recessive early-onset retinal degeneration in the Israeli and Palestinian populations.
23443024 2013 Novel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family.
23379534 2013 High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population.
23362850 2014 Report of a novel mutation in CRB1 in a Lebanese family presenting retinal dystrophy.
23077403 2012 A novel crumbs homolog 1 mutation in a family with retinitis pigmentosa, nanophthalmos, and optic disc drusen.
23001562 2013 Loss of CRB2 in the mouse retina mimics human retinitis pigmentosa due to mutations in the CRB1 gene.
22876132 2012 Application of a high-throughput genotyping method for loci exclusion in non-consanguineous Australian pedigrees with autosomal recessive retinitis pigmentosa.
22863181 2012 Molecular diagnosis of putative Stargardt Disease probands by exome sequencing.
22334370 2012 Next-generation genetic testing for retinitis pigmentosa.
22219627 2011 Lack of phenotypic effect of triallelic variation in SPATA7 in a family with Leber congenital amaurosis resulting from CRB1 mutations.
22128245 2011 Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping.
22065545 2012 CRB1 mutations in inherited retinal dystrophies.
21987686 2011 Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa.
21757580 2011 Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse model.
21602930 2011 Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.
21378169 2011 A Competitive binding mechanism between Skp1 and exportin 1 (CRM1) controls the localization of a subset of F-box proteins.
20956273 2011 Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1.
20816195 2010 Analyses of shared genetic factors between asthma and obesity in children.
20805571 2010 The role of crumbs genes in the vertebrate cornea.
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
20683928 2010 Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.
20591486 2010 Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.
20108431 2010 Novel human pathological mutations. Gene symbol: CRB1. Disease: Leber congenital amaurosis.
20032318 2010 Variants of DENND1B associated with asthma in children.
19956407 2009 Molecular characterization of retinitis pigmentosa in Saudi Arabia.
19753312 2009 Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.
19407021 2009 CRB1 gene mutations are associated with keratoconus in patients with leber congenital amaurosis.
19140180 2009 Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping.
18682814 2008 Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis.
18682808 2008 Molecular characterization of Leber congenital amaurosis in Koreans.
18334942 2008 Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa.
18055821 2007 Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.
17988153 2007 Overexpression of human CRB1 or related isoforms, CRB2 and CRB3, does not regulate the human presenilin complex in culture cells.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17724218 2007 Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.
17438615 2007 Gene symbol: CRB1.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
17128490 2006 Gene symbol: CRB1. Disease: early onset retinitis pigmentosa.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
16936081 2006 CRB1 heterozygotes with regional retinal dysfunction: implications for genetic testing of leber congenital amaurosis.
16767206 2006 Utility of molecular testing for related retinal dystrophies.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16543197 2006 A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis.
16505055 2006 Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis.
16272259 2005 Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa.
16205573 Evaluation of genotype-phenotype associations in leber congenital amaurosis.
15914641 2005 MPP5 recruits MPP4 to the CRB1 complex in photoreceptors.
15691574 2005 Clinical phenotypes in carriers of Leber congenital amaurosis mutations.
15623792 2005 Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15459956 2004 CRB1 mutation spectrum in inherited retinal dystrophies.
15024725 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.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12843338 2003 Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa.
12700176 2003 Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination.
12573663 2003 Mutation screening of Pakistani families with congenital eye disorders.
12567265 2002 A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11927608 2002 The Maguk protein, Pals1, functions as an adapter, linking mammalian homologues of Crumbs and Discs Lost.
11850624 2002 Drosophila Crumbs is a positional cue in photoreceptor adherens junctions and rhabdomeres.
11734541 2001 CRB1 has a cytoplasmic domain that is functionally conserved between human and Drosophila.
11559858 2001 CRB1 mutations may result in retinitis pigmentosa without para-arteriolar RPE preservation.
11389483 2001 Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene.
11231775 2001 Mutations in the CRB1 gene cause Leber congenital amaurosis.
10508521 1999 Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).
10373321 1999 Isolation and mapping of novel candidate genes for retinal disorders using suppression subtractive hybridization.
8646891 1996 Fine mapping of the autosomal recessive retinitis pigmentosa locus (RP12) on chromosome 1q; exclusion of the phosducin gene (PDC).
8001962 1994 Assignment of a gene for autosomal recessive retinitis pigmentosa (RP12) to chromosome 1q31-q32.1 in an inbred and genetically heterogeneous disease population.