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cryaa

Crystallin-alpha A

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GeneInformationForm
GeneName cryaa
Aliases ENSDARG:ENSDARG00000053502; fc06h04; MGC92036; zgc:92036; wu:fc06h04
Description Crystallin-alpha A
GenomicLocation chromosome 1 28027491-28031533 forward strand
ExternalIDs Entrez:100000769; EMBL:BC083177; UniGene:78315; ZFIN:ZDB-GENE-020508-1;
TranscriptID ENSDART:ENSDART00000075539
mRNA NCBI:NM_152950
GeneDescription cryaa are small heat shock proteins that contribute transparency, refractive power of the eye lens and its normal development and also keeps the non–native proteins apart which lead to cataract.
GeneFunction Runkle et al.(2002) suggested that cryaa was highly expressed in eye lens and very low in liver and spleen which led to the conclusion that cryaa had limited role outside the lens.Horwitz (2003) found that crystallin acts as a molecular chaperone that protects proteins from misfolding.Dahlman et al. (2005) found that cryaa contribute to transparency & refractive index of the lens necessary for the vision & cryaa are lens specific chaperone like molecule. The chaperone-like activities of zebrafish α-crystallins were assayed by measuring their ability to prevent the aggregation of the target proteins like α-lactalbumin, insulin, and lysozyme upon chemical denaturation.They were not able to identify the specific amino acid changes that alter chaperone like activity of cryaa.Posner at al. (2008) used 2DE (2-Dimensional Gel Electrophoresis ) and concluded that cryaa contributes 7.8% to the zebrafish
GeneCloning Runkle et al. (2002) used 3’ & 5’ RACE to clone the zebrafish cryaa gene.
GeneStructure This gene encodes a single transcript (ENSDART00000075539) which has 3 exons and is1,417 bps in length.The protein product (ENSDARP00000070021) consists of 173 residues.
Protein ENSDARP00000070021
ProteinDomainandFamilies has domain InterPro:IPR001436; InterPro:IPR012274; InterPro:IPR003090; InterPro:IPR002068;
Motifs has motif PFAM:PF00011; PFAM:PF00525; PRINTS:PR00299;
Expression ArrayExpress:ENSDARG00000053502
GeneOntology GO:0005575; GO:0001654; GO:0007601; GO:0005212; GO:0051082; GO:0009408;
Orthologs Entrez:1409
VariationAndRepeats RSID:rs40907811; RSID:rs179943538; RSID:rs179943600; RSID:rs179943616; RSID:rs41230039; RSID:rs179943556; RSID:rs40809157; RSID:rs41137153; RSID:rs41149844; RSID:rs40761185; RSID:rs40989961; RSID:rs41028700; RSID:rs41195149; RSID:rs40695336; RSID:rs40978333; RSID:rs179943589; RSID:rs41091043; RSID:rs40948841; RSID:rs41227601; RSID:rs41099388; RSID:rs40865732; RSID:rs40757973; RSID:rs41240963; RSID:rs41117238; RSID:rs40933048; RSID:rs179943601; RSID:rs41155574; RSID:rs41203705; RSID:rs40975735; RSID:rs41119473; RSID:rs40835091; RSID:rs40768305; RSID:rs41090534; RSID:rs40745726; RSID:rs40855071; RSID:rs41132247; RSID:rs180048894; RSID:rs179943550; RSID:rs179943557; RSID:rs40726240; RSID:rs40894932; RSID:rs179943566; RSID:rs179943558; RSID:rs179943570; RSID:rs179943606; RSID:rs179943565; RSID:rs179943613; RSID:rs180048893; RSID:rs179943585; RSID:rs179943544; RSID:rs179943535
DisordersAndMutations Litt et al. (1998) found that defects in cryaa gene are associated with autosomal dominant congenital cataracts.Goishi et al., (2006)found that the zebrafish cloche mutant, both the cloche(m39) and cloche(S5) alleles, which have defects in hematopoiesis and blood vessel development, also have lens cataracts.
RelatedPubMedArticles Runkle, S.; Hill, J.; Kantorow, M.; Horwitz, J.; Posner, M.: Sequence and spatial expression of zebrafish (Danio rerio) alphaA-crystallin. Molecular vision. 8 : 45-50, 2002. PMID:11925526

Dahlman, J.M.;Margot, K.L.; Ding, L.J.; Posner, M.: Zebrafish α-crystallins: protein structure and chaperone-like activity compared to their mammalian orthologs. Molecular Vision.11:88-96, 2005. PMID:15692462 Goishi, K.; Shimizu, A.; Najarro, G.; Watanabe, S.; Rogers, R.; Zon, L.I.; Klagsbrun, M.: Alpha -a crystallin expression prevents gamma-crystallin insolubility and cataract formation in the zebrafish cloche mutant lens. Development. 133, 2006. PMID:16728471 Posner, M.; Hawke, M.; Lacava, C.; Prince, C.J.; Bellanco, N.R.; Corbin, R.: A proteosome map of zebrafish genome lens reveals similatrities zebrafish & mammalian crystalline expression. Molecular vision .14: 806-814, 2008. PMID:18449354
NCBI Resource Coordinators.: Database resources of the National Center for Biotechnology Information. Nucleic Acids Res. 41(Database issue):D8-D20. 2013. PMID:23193264
Kersey, P. J.; Allen, J. E.; Christensen, M.; et al.: Ensembl Genomes 2013: scaling up access to genome-wide data. Nucleic Acids Res. 2013. PMID:24163254
Sigrist, C. J. A.; de, Castro, E; Cerutti, L; Cuche, B. A.; Hulo, N.; Bridge, A.; Bougueleret, L. Xenarios, I.: New and continuing developments at PROSITE. Nucleic Acids Res. doi: 10.1093/nar/gks1067. 2012. PMID:23161676
Punta, M.; Coggill, P. C.; Eberhardt, et al.: The Pfam protein families database. Nucleic Acids Res. 40(Database Issue):D290-D301. 2012. PMID:22127870
Hunter, S.; Jones P.; Mitchell A.; et al.: Interpro in 2011: new developments in the family and domain prediction database. Nucleic Acids Res. doi: 10.1093/nar/gkr948. 2011. PMID:22096229
Carbon, S.; Ireland, A.; Mungall, C. J.; Shu, S.; Marshall, B.; Lewis, S.; AMIGO Hub; Web Presence Working Group.: AMIGO: online access to ontology and annotation data. Bioinformatics. 25(2):288-9. 2009. PMID:19033274
Ashburner, M.; Ball, C. A.; Blake, J. A.; et al. The Gene Ontology Consortium.: Gene ontology: tool for the unification of biology. Nat. Genet. 25(1):25-9. 2000. PMID:10802651
Sherry, S. T.; Ward, M. H.; Kholodov, M.; Baker, J.; Phan, L.; Smigielski, E. M.; Sirotkin, K.: dbSNP: the NCBI database of genetic variation. Nucleic Acids Res. 1;29(1):308-11. 2001. PMID:11125122
Bradford, Y.; Conlin, T.; Dunn, N.; et al.: ZFIN: enhancements and updates to the zebrafish model organism database. Nucleic Acids Res. 39(suppl 1):D822-D829. 2011. PMID:21036866
Kapushesky, M.; Adamusiak, T.; Burdett, T.; et al.: Gene Expression Atlas update--a value-added database of microarray and sequencing-based functional genomics experiments. Nucleic Acids Res. 40(Database isue):D1077-81. 2012. PMID:22064864

Web resources:
NCBI: http://www.ncbi.nlm.nih.gov/
PFAM: http://pfam.sanger.ac.uk/
PROSITE: http://prosite.expasy.org/
Interpro: http://www.ebi.ac.uk/interpro/
ZFIN: http://zfin.org/
Expression Atlas (EMBL): http://www.ebi.ac.uk/gxa/
Ensembl: http://asia.ensembl.org/Danio_rerio/
Database of Single Nucleotide Polymorphisms (dbSNP). Bethesda (MD): National Center for Biotechnology Information, National Library of Medicine.: http://www.ncbi.nlm.nih.gov/SNP/
PRINTS from Genomenet: http://www.genome.jp/
European Nucleotide Archive: http://www.ebi.ac.uk/ena/home
UNIGENE: http://www.ncbi.nlm.nih.gov/unigene/
AMIGO Gene Ontology: http://amigo.geneontology.org
Topic revision: r2 - 2013-07-26 - ParasSehgal
 
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