Crystallin, beta A1

From Wikipedia, the free encyclopedia
Jump to: navigation, search
CRYBA1
Identifiers
Aliases CRYBA1, CRYB1, CTRCT10, crystallin beta A1
External IDs MGI: 88518 HomoloGene: 3815 GeneCards: CRYBA1
RNA expression pattern
PBB GE CRYBA1 206982 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_005208

NM_009965
NM_001313933

RefSeq (protein)

NP_005199

NP_001300862
NP_034095

Location (UCSC) Chr 17: 29.25 – 29.25 Mb Chr 11: 77.72 – 77.73 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Beta-crystallin A3 is a protein that in humans is encoded by the CRYBA1 gene.[3][4][5]

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 acidic group member, encodes two proteins (crystallin, beta A3 and crystallin, beta A1) from a single mRNA, the latter protein is 17 aa shorter than crystallin, beta A3 and is generated by use of an alternate translation initiation site. Deletion of exons 3 and 4 causes the autosomal dominant disease 'zonular cataract with sutural opacities'.[5]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ Hogg D, Tsui LC, Gorin M, Breitman ML (Oct 1986). "Characterization of the human beta-crystallin gene Hu beta A3/A1 reveals ancestral relationships among the beta gamma-crystallin superfamily". J Biol Chem. 261 (26): 12420–7. PMID 3745196. 
  4. ^ Sparkes RS, Mohandas T, Heinzmann C, Gorin MB, Zollman S, Horwitz J (Nov 1986). "Assignment of a human beta-crystallin gene to 17cen-q23". Hum Genet. 74 (2): 133–6. doi:10.1007/BF00282076. PMID 3770741. 
  5. ^ a b "Entrez Gene: CRYBA1 crystallin, beta A1". 

Further reading[edit]