Property Summary

NCBI Gene PubMed Count 45
PubMed Score 26.38
PubTator Score 38.08

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
lung cancer -2.300 0.000
ovarian cancer -1.600 0.000
pituitary cancer 1.100 0.008

Synonym

Accession P05813 Q13633 Q14CM9
Symbols CRYB1
CTRCT10

Gene

Gene RIF (24)

PMID Text
26022148 The findings suggest that impaired endolysosomal signaling in ocular astrocytes can cause PFV disease, by adversely affecting the vascular remodeling processes essential to ocular development, including regression of the fetal vasculature. [review]
25450505 Data indicate that alpha-crystallin B chain and beta-crystallin A3-cyrstallins dissociate to the monomers upon racemization of d-aspartic acids (Asp).
24926697 association between a frameshift mutation in exon 6 of CRYBA1/A3 and congenital cataracts
22919269 A splice site mutation (c.215+1G>A) at the first base of intron 3 of the crystallin beta A3/A1 (CRYBA3/A1) gene has been identified in Chinese congenital polymorphic cataract patients.
22665976 A novel splice site mutation in CRYBA1/A3 is associated with autosomal dominant nuclear cataracts in a Chinese family.
22032798 ThebetaA3-crystallin and betaB1-crystallin homomers and the betaA3/betaB1-crystallin heteromer all undergo similar five-state folding pathways which include one dimeric and two monomeric intermediates.
21850182 A G-->T splice site mutation of CRYBA1/A3 associated with autosomal dominant suture cataracts in a Chinese family.
21686330 The c.279-281delGAG mutation in CRYBA1 is responsible for the autosomal dominant congenital nuclear cataract disease in this Chinese family.
21139983 This is the first report of a phenotype of progressive nuclear and cortical cataracts related to the CRYBA3/A1 mutation IVS3+1 G>A.
21139689 A serine-type protease activity of betaA3-crystalllin was responsible for its autodegradation.
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AA Sequence

METQAEQQELETLPTTKMAQTNPTPGSLGPWKITIYDQENFQGKRMEFTSSCPNVSERSFDNVRSLKVES      1 - 70
GAWIGYEHTSFCGQQFILERGEYPRWDAWSGSNAYHIERLMSFRPICSANHKESKMTIFEKENFIGRQWE     71 - 140
ISDDYPSLQAMGWFNNEVGSMKIQSGAWVCYQYPGYRGYQYILECDHHGGDYKHWREWGSHAQTSQIQSI    141 - 210
RRIQQ                                                                     211 - 215
//

Text Mined References (45)

PMID Year Title
26022148 2016 ?A3/A1-crystallin and persistent fetal vasculature (PFV) disease of the eye.
25450505 2015 Alpha B- and ?A3-crystallins containing d-aspartic acids exist in a monomeric state.
25416956 2014 A proteome-scale map of the human interactome network.
24926697 2014 Congenital cataracts due to a novel 2?bp deletion in CRYBA1/A3.
22919269 2012 Congenital polymorphic cataract associated with a G to A splice site mutation in the human beta-crystallin gene CRY?A3/A1.
22665976 2012 A novel T?G splice site mutation of CRYBA1/A3 associated with autosomal dominant nuclear cataracts in a Chinese family.
22032798 2011 The benefits of being ?-crystallin heteromers: ?B1-crystallin protects ?A3-crystallin against aggregation during co-refolding.
21850182 2011 A G?T splice site mutation of CRYBA1/A3 associated with autosomal dominant suture cataracts in a Chinese family.
21686330 2011 A recurrent mutation in CRYBA1 is associated with an autosomal dominant congenital nuclear cataract disease in a Chinese family.
21516116 2011 Next-generation sequencing to generate interactome datasets.
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