CRYBB1

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Crystallin, beta B1
Protein CRYBB1 PDB 1oki.png
PDB rendering based on 1oki.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols CRYBB1 ; CATCN3; CTRCT17
External IDs OMIM600929 MGI104992 HomoloGene1423 GeneCards: CRYBB1 Gene
RNA expression pattern
PBB GE CRYBB1 206185 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1414 12960
Ensembl ENSG00000100122 ENSMUSG00000029343
UniProt P53674 Q9WVJ5
RefSeq (mRNA) NM_001887 NM_023695
RefSeq (protein) NP_001878 NP_076184
Location (UCSC) Chr 22:
27 – 27.01 Mb
Chr 5:
112.26 – 112.27 Mb
PubMed search [1] [2]

Beta-crystallin B1 is a protein that in humans is encoded by the CRYBB1 gene.[1][2][3]

Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. 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. This gene, 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.[3]

References[edit]

  1. ^ Hulsebos TJ, Gilbert DJ, Delattre O, Smink LJ, Dunham I, Westerveld A, Thomas G, Jenkins NA, Copeland NG (Mar 1996). "Assignment of the beta B1 crystallin gene (CRYBB1) to human chromosome 22 and mouse chromosome 5". Genomics 29 (3): 712–8. doi:10.1006/geno.1995.9947. PMID 8575764. 
  2. ^ Mackay DS, Boskovska OB, Knopf HL, Lampi KJ, Shiels A (Oct 2002). "A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q". Am J Hum Genet 71 (5): 1216–21. doi:10.1086/344212. PMC 385100. PMID 12360425. 
  3. ^ a b "Entrez Gene: CRYBB1 crystallin, beta B1". 

Further reading[edit]