Crystallin, beta A1

CRYBA1
Identifiers
Aliases	CRYBA1 , CRYB1, CTRCT10, crystallin beta A1
External IDs	OMIM: 123610 MGI: 88518 HomoloGene: 3815 GeneCards: CRYBA1
Gene location (Human) Chr. Chromosome 17 (human) [1] Band 17q11.2 Start 29,246,859 bp [1] End 29,254,494 bp [1]
Gene location (Mouse) Chr. Chromosome 11 (mouse) [2] Band 11 B5|11 46.74 cM Start 77,609,441 bp [2] End 77,616,109 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mirror monocyte corpus callosum Achilles tendon blood ascending aorta right lung islet of Langerhans gastric mucosa right lobe of liver Top expressed in corneal stroma ciliary body retinal pigment epithelium conjunctival fornix iris sexually immature organism trigeminal ganglion morula ureter rhombencephalon More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding structural constituent of eye lens molecular function Cellular component cytoplasm nucleus Biological process negative regulation of ERK1 and ERK2 cascade negative regulation of TOR signaling negative regulation of protein kinase B signaling positive regulation of anoikis lens development in camera-type eye negative regulation of cytokine production visual perception negative regulation of phosphatidylinositol 3-kinase signaling Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1411 12957 Ensembl ENSG00000108255 ENSMUSG00000000724 UniProt P05813 P02525 Q9QXC6 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: 77.61 – 77.62 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Beta-crystallin A3 is a protein that in humans is encoded by the CRYBA1 gene. ^{[5] [6] [7]}

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'. ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000108255 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000000724 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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. doi: 10.1016/S0021-9258(18)67257-6 . PMID   3745196.
6. 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. S2CID   7875247.
7. "Entrez Gene: CRYBA1 crystallin, beta A1".

Further reading

• Hulsebos TJ, Bijlsma EK, Geurts van Kessel AH, et al. (1991). "Direct assignment of the human beta B2 and beta B3 crystallin genes to 22q11.2----q12: markers for neurofibromatosis 2". Cytogenet. Cell Genet. 56 (3–4): 171–5. doi:10.1159/000133080. PMID   2055112.
• Basti S, Hejtmancik JF, Padma T, et al. (1996). "Autosomal dominant zonular cataract with sutural opacities in a four-generation family". Am. J. Ophthalmol. 121 (2): 162–8. doi:10.1016/s0002-9394(14)70580-x. PMID   8623885.
• Werten PJ, Carver JA, Jaenicke R, de Jong WW (1997). "The elusive role of the N-terminal extension of beta A3- and beta A1-crystallin". Protein Eng. 9 (11): 1021–8. doi: 10.1093/protein/9.11.1021 . PMID   8961355.
• Lampi KJ, Ma Z, Shih M, et al. (1997). "Sequence analysis of betaA3, betaB3, and betaA4 crystallins completes the identification of the major proteins in young human lens". J. Biol. Chem. 272 (4): 2268–75. doi: 10.1074/jbc.272.4.2268 . PMID   8999933.
• Kannabiran C, Rogan PK, Olmos L, et al. (1998). "Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene". Mol. Vis. 4: 21. PMID   9788845.
• Srivastava OP, Srivastava K (1999). "Characterization of a sodium deoxycholate-activatable proteinase activity associated with betaA3/A1-crystallin of human lenses". Biochim. Biophys. Acta. 1434 (2): 331–46. doi:10.1016/s0167-4838(99)00183-1. PMID   10525151.
• Graw J, Jung M, Löster J, et al. (2000). "Mutation in the betaA3/A1-crystallin encoding gene Cryba1 causes a dominant cataract in the mouse". Genomics. 62 (1): 67–73. doi:10.1006/geno.1999.5974. PMID   10585769.
• Vanita, Sarhadi V; Reis A; et al. (2001). "A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene". J. Med. Genet. 38 (6): 392–6. doi:10.1136/jmg.38.6.392. PMC   1734905 . PMID   11424921.
• MacCoss MJ, McDonald WH, Saraf A, et al. (2002). "Shotgun identification of protein modifications from protein complexes and lens tissue". Proc. Natl. Acad. Sci. U.S.A. 99 (12): 7900–5. Bibcode:2002PNAS...99.7900M. doi: 10.1073/pnas.122231399 . PMC   122992 . PMID   12060738.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Qi Y, Jia H, Huang S, et al. (2004). "A deletion mutation in the betaA1/A3 crystallin gene ( CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family". Hum. Genet. 114 (2): 192–7. doi:10.1007/s00439-003-1049-7. PMID   14598164. S2CID   38106334.
• Reddy MA, Bateman OA, Chakarova C, et al. (2004). "Characterization of the G91del CRYBA1/3-crystallin protein: a cause of human inherited cataract". Hum. Mol. Genet. 13 (9): 945–53. doi: 10.1093/hmg/ddh110 . PMID   15016766.
• Ferrini W, Schorderet DF, Othenin-Girard P, et al. (2004). "CRYBA3/A1 gene mutation associated with suture-sparing autosomal dominant congenital nuclear cataract: a novel phenotype". Invest. Ophthalmol. Vis. Sci. 45 (5): 1436–41. doi: 10.1167/iovs.03-0760 . PMID   15111599.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Lapko VN, Cerny RL, Smith DL, Smith JB (2005). "Modifications of human betaA1/betaA3-crystallins include S-methylation, glutathiolation, and truncation". Protein Sci. 14 (1): 45–54. doi:10.1110/ps.04738505. PMC   2253330 . PMID   15576560.
• Takata T, Oxford JT, Brandon TR, Lampi KJ (2007). "Deamidation alters the structure and decreases the stability of human lens betaA3-crystallin". Biochemistry. 46 (30): 8861–71. doi:10.1021/bi700487q. PMC   2597435 . PMID   17616172.
• Lu S, Zhao C, Jiao H, et al. (2007). "Two Chinese families with pulverulent congenital cataracts and deltaG91 CRYBA1 mutations". Mol. Vis. 13: 1154–60. PMID   17653060.