Crystallin Beta B1 (CRYbB1)

SPN	R453
HGNC	2397
MGI	104992
PubMed	21972112
RGD	2416
UniProt	P53674
Wiki	CRYBB1

Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. CRYbB1, a beta basic group member, undergoes extensive cleavage at its N-terminal extension during lens maturation. It is also a member of a gene cluster with beta-A4, beta-B2, and beta-B3.

Reference

"The sequence of human betaB1-crystallin cDNA allows mass spectrometric detection of betaB1 protein missing portions of its N-terminal extension."
J. Biol. Chem. 271:4273-4279(1996) [PubMed] [Europe PMC] [Abstract]

"A genome annotation-driven approach to cloning the human ORFeome."
Genome Biol. 5:R84.1-R84.11(2004) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence of human chromosome 22."
Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Assignment of the beta B1 crystallin gene (CRYBB1) to human chromosome 22 and mouse chromosome 5."
Genomics 29:712-718(1995) [PubMed] [Europe PMC] [Abstract]

"A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q."
Am. J. Hum. Genet. 71:1216-1221(2002) [PubMed] [Europe PMC] [Abstract]

"Oligomerization and phase transitions in aqueous solutions of native and truncated human beta B1-crystallin."
Biochemistry 44:1316-1328(2005) [PubMed] [Europe PMC] [Abstract]

"CRYBB1 mutation associated with congenital cataract and microcornea."
Mol. Vis. 11:587-593(2005) [PubMed] [Europe PMC] [Abstract]

"Crystal structure of truncated human betaB1-crystallin."
Protein Sci. 12:2606-2612(2003) [PubMed] [Europe PMC] [Abstract]

"Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract."
Invest. Ophthalmol. Vis. Sci. 48:2208-2213(2007) [PubMed] [Europe PMC] [Abstract]

"A novel mutation in CRYBB1 associated with congenital cataract-microcornea syndrome: the p.Ser129Arg mutation destabilizes the betaB1/betaA3-crystallin heteromer but not the betaB1-crystallin homomer."
Hum. Mutat. 32:E2050-E2060(2011) [PubMed] [Europe PMC] [Abstract]

"Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes."
Hum. Genet. 132:761-770(2013) [PubMed] [Europe PMC] [Abstract]