Property Summary

NCBI Gene PubMed Count 39
PubMed Score 74.88
PubTator Score 51.48

Knowledge Summary

Patent

No data available

Expression

Gene RIF (22)

PMID Text
23159606 Despite the disruption of betaB1-crystallin assembly, the thermal stability of betaB1-crystallin was increased by the mutation accompanied by the reduction of thermal aggregation at high temperatures
22267527 Sequencing of this gene revealed a homozygous c.171del mutation (p.N58Tfs*107) with a shared haplotype in all 16 children.
22032798 The formation of beta-crystallin heteromers not only stabilizes the unstable acidic beta-crystallin but also protects them against aggregation during refolding from the stress-denatured states.
21972112 study identified a novel heterozygous p.Ser129Arg mutation in CRYBB1 in a congenital cataract-microcornea syndrome family of Chinese origin
21447408 The presence of significant amounts of small peptides derived from gammaS- and betaB1-crystallins in the water-insoluble fraction of the lens indicates that these interact tightly with cytoskeletal or membrane components.
21402992 Analyses of 20 Chinese families with hereditary nuclear congenital cataract revealed 3 novel mutations. Two of these mutations (V146M and I21N) affected betaB2-crystallin (CRYBB2). One mutation (R233H) was detected in betaB1-crystallin (CRYBB1).
20616077 Data show a significant demixing of gammaD and betaB1 i.e., large difference of composition in the two coexisting phases.
20565250 Variant alleles of the CRYBB1 and CRYBB2 genes were found, none are considered pathogenic.
19548648 Results suggest that the N-terminal arm of betaB1-crystallin interacts with betaA3-crystallin during heterooligomerization, and the solubility of betaB1-crystallin and the heterooligomer are dependent on the intact C-terminal domain of betaB1-crystallin.
19463898 Studies show that The major proteins in the lens--alpha, beta, and gamma-crystallins--are constantly subjected to age-related changes.
19461930 study identified an initiation codon mutation in CRYBB1 in a family with autosomal recessive form of congenital cataract (nuclear pulverulent cataract)
19190732 deamidation decreased formation of hetero-oligomers between beta-crystallin subunits; excess accumulation of deamidated beta-crystallins in vivo may disrupt normal protein-protein interactions and diminish the stabilizing effects between them
19071118 These data suggest a mechanism whereby a transient disulfide bond occurs between alphaA- and betaB1-crystallin followed by a disulfide exchange with cysteine 49 of a neighboring alphaA-crystallin subunit.
18432316 This study has identified a novel nonsense mutation in CRYBB1 (p.Q223X) associated with autosomal dominant congenital nuclear cataract.
17531125 study identified a novel mutation in CRYBB1 gene in a Chinese family with autosomal dominant congenital cataract; results provide strong evidence that CRYBB1 is a pathogenic gene for congenital cataract
17460281 The current study showed that a different mutation in the same gene causes an autosomal recessive form of the disease.
17448466 The dimeric intermediate may be a critical determinant for the life-long stability of the beta-crystallins and has important consequences on interactions with alpha-crystallin.
17327390 the sequence of betaB2-crystallin appears well optimized for domain swapping
16331646 fundamental transcriptional regulatory mechanism of the betaB1-crystallin gene has been well conserved between humans and zebrafish
16110300 The molecular characterization of a UK family with an autosomal dominant congenital cataract associated with microcornea is reported
14573871 1.4 angstroms resolution crystal structure of a truncated version of human betaB1 that resembles an in vivo age-related truncation
12360425 Mutation G220X is associated with autosomal dominant cataract.

AA Sequence

MSQAAKASASATVAVNPGPDTKGKGAPPAGTSPSPGTTLAPTTVPITSAKAAELPPGNYRLVVFELENFQ      1 - 70
GRRAEFSGECSNLADRGFDRVRSIIVSAGPWVAFEQSNFRGEMFILEKGEYPRWNTWSSSYRSDRLMSFR     71 - 140
PIKMDAQEHKISLFEGANFKGNTIEIQGDDAPSLWVYGFSDRVGSVKVSSGTWVGYQYPGYRGYQYLLEP    141 - 210
GDFRHWNEWGAFQPQMQSLRRLRDKQWHLEGSFPVLATEPPK                                211 - 252
//

Text Mined References (40)

PMID Year Title
25416956 2014 A proteome-scale map of the human interactome network.
23508780 2013 Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.
23159606 2013 Increasing ?B1-crystallin sensitivity to proteolysis caused by the congenital cataract-microcornea syndrome mutation S129R.
22267527 2012 Clinical and molecular analysis of children with central pulverulent cataract from the Arabian Peninsula.
22032798 2011 The benefits of being ?-crystallin heteromers: ?B1-crystallin protects ?A3-crystallin against aggregation during co-refolding.
21972112 2011 A novel mutation in CRYBB1 associated with congenital cataract-microcornea syndrome: the p.Ser129Arg mutation destabilizes the ?B1/?A3-crystallin heteromer but not the ?B1-crystallin homomer.
21516116 2011 Next-generation sequencing to generate interactome datasets.
21447408 2011 Truncation, cross-linking and interaction of crystallins and intermediate filament proteins in the aging human lens.
21402992 2011 Novel beta-crystallin gene mutations in Chinese families with nuclear cataracts.
21044950 2011 Genome-wide YFP fluorescence complementation screen identifies new regulators for telomere signaling in human cells.
20889312 2010 A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
20616077 2010 Phase behavior of mixtures of human lens proteins Gamma D and Beta B1.
20565250 2010 Mutation screen of beta-crystallin genes in 274 patients with age-related macular degeneration.
19548648 2009 Truncated human betaB1-crystallin shows altered structural properties and interaction with human betaA3-crystallin.
19463898 2009 Lens aging: effects of crystallins.
19461930 2009 Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract.
19190732 2009 Deamidation alters interactions of beta-crystallins in hetero-oligomers.
19071118 2009 Disulfide cross-links in the interaction of a cataract-linked alphaA-crystallin mutant with betaB1-crystallin.
18432316 2008 A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract.
18162101 2008 Linkage and association analyses of intragenic SNPs in the canine beta-crystallin genes CRYBB1, CRYBB2, CRYBB3, CRYBA1 and CRYBA4 with primary cataracts in wire-haired Dachshunds.
17531125 2007 A missense mutation S228P in the CRYBB1 gene causes autosomal dominant congenital cataract.
17460281 2007 Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract.
17448466 2007 Analysis of betaB1-crystallin unfolding equilibrium by spin and fluorescence labeling: evidence of a dimeric intermediate.
17327390 2007 Mutation of interfaces in domain-swapped human betaB2-crystallin.
16331646 2006 Recapitulation of human betaB1-crystallin promoter activity in transgenic zebrafish.
16110300 2005 CRYBB1 mutation associated with congenital cataract and microcornea.
15667225 2005 Oligomerization and phase transitions in aqueous solutions of native and truncated human beta B1-crystallin.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15461802 2004 A genome annotation-driven approach to cloning the human ORFeome.
14978307 2004 Laser light-scattering evidence for an altered association of beta B1-crystallin deamidated in the connecting peptide.
14573871 2003 Crystal structure of truncated human betaB1-crystallin.
12941953 2003 Sur domains that associate with and gate KATP pores define a novel gatekeeper.
12506076 2003 BetaB1-crystallin: identification of a candidate ciliary body uveitis antigen.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12360425 2002 A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q.
12060738 2002 Shotgun identification of protein modifications from protein complexes and lens tissue.
10591208 1999 The DNA sequence of human chromosome 22.
9702176 1998 Age-related changes in human lens crystallins identified by two-dimensional electrophoresis and mass spectrometry.
8626774 1996 The sequence of human betaB1-crystallin cDNA allows mass spectrometric detection of betaB1 protein missing portions of its N-terminal extension.
8575764 1995 Assignment of the beta B1 crystallin gene (CRYBB1) to human chromosome 22 and mouse chromosome 5.