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CRYBA1 Gene

protein-coding   GIFtS: 55
GCID: GC17P027573

Crystallin, Beta A1


(Previous symbol: CRYB1)
  See CRYBA1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Crystallin, Beta A11 2
CRYB11 2 3 5
Eye Lens Structural Protein1 2
CTRCT102 5
Beta-Crystallin A32
Crystallin, Beta A32

External Ids:    HGNC: 23941   Entrez Gene: 14112   Ensembl: ENSG000001082557   OMIM: 1236105   UniProtKB: P058133   

Export aliases for CRYBA1 gene to outside databases

Previous GC identifers: GC17M027303 GC17P029473 GC17P027425 GC17P027719 GC17P024598 GC17P023782


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CRYBA1 Gene:
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'. (provided by RefSeq, Jul 2008)

GeneCards Summary for CRYBA1 Gene:
CRYBA1 (crystallin, beta A1) is a protein-coding gene. Diseases associated with CRYBA1 include cataract 10, multiple types, and autosomal dominant disease. GO annotations related to this gene include structural constituent of eye lens and protein homodimerization activity. An important paralog of this gene is CRYBB3.

UniProtKB/Swiss-Prot: CRBA1_HUMAN, P05813
Function: Crystallins are the dominant structural components of the vertebrate eye lens

Gene Wiki entry for CRYBA1 (Crystallin, beta A1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CRYBA1 gene promoter:
         Tal-1   AP-1   Pax-2   Lmo2   Pax-2a   Tal-1beta   E47   POU2F1   POU2F1a   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCRYBA1 promoter sequence
   Search Chromatin IP Primers for CRYBA1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CRYBA1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q11.2   Ensembl cytogenetic band:  17q11.2   HGNC cytogenetic band: 17q11.2-q12

CRYBA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CRYBA1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P027573:  view genomic region     (about GC identifiers)

Start:
27,573,875 bp from pter      End:
27,581,512 bp from pter
Size:
7,638 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CRBA1_HUMAN, P05813 (See protein sequence)
Recommended Name: Beta-crystallin A3  
Size: 215 amino acids; 25150 Da
Subunit: Homo/heterodimer, or complexes of higher-order. The structure of beta-crystallin oligomers seems to be
stabilized through interactions between the N-terminal arms (By similarity)
Mass spectrometry: Mass=25192; Mass_error=3; Method=Electrospray; Range=1-215; Source=PubMed:8999933;
Mass spectrometry: Mass=25192; Method=Electrospray; Range=1-215; Source=PubMed:15576560;
Mass spectrometry: Mass=23101; Mass_error=3; Method=Electrospray; Range=19-215; Source=PubMed:8999933;
Mass spectrometry: Mass=23102; Method=Electrospray; Range=19-215; Source=PubMed:15576560;
Mass spectrometry: Mass=22646; Method=Electrospray; Range=23-215; Source=PubMed:15576560;
Mass spectrometry: Mass=22351; Method=Electrospray; Range=26-215; Source=PubMed:15576560;
Mass spectrometry: Mass=22294; Method=Electrospray; Range=27-215; Source=PubMed:15576560;
Secondary accessions: Q13633 Q14CM9
Alternative initiation: 2 isoforms:  P05813-1   P05813-2   (Initiator Met-1 is removed. Contains a N-acetylalanine at position 2)

Explore the universe of human proteins at neXtProt for CRYBA1: NX_P05813

Explore proteomics data for CRYBA1 at MOPED

Post-translational modifications: 

  • Specific cleavages in the N-terminal arm occur during lens maturation and give rise to several truncated forms.
    Cleavages do not seem to have adverse effects on solubility1
  • S-methylation and glutathionylation occur in normal young lenses and do not seem to be detrimental1
  • Isoform A1 initiator methionine is removed. The new N-terminal amino acid is then N-acetylated1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CRYBA1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005199.2  
    ENSEMBL proteins: 
     ENSP00000225387   ENSP00000464368  

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    antibodies-online peptides for CRYBA1

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR001064 Beta/gamma_crystallin
     IPR011024 G_crystallin-rel

    Graphical View of Domain Structure for InterPro Entry P05813

    ProtoNet protein and cluster: P05813

    2 Blocks protein domains:
    IPB001064 Beta and gamma crystallin
    IPB011024 Gamma-crystallin related


    UniProtKB/Swiss-Prot: CRBA1_HUMAN, P05813
    Domain: Has a two-domain beta-structure, folded into four very similar Greek key motifs
    Similarity: Belongs to the beta/gamma-crystallin family
    Similarity: Contains 4 beta/gamma crystallin 'Greek key' domains


    Find genes that share domains with CRYBA1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CRBA1_HUMAN, P05813
    Function: Crystallins are the dominant structural components of the vertebrate eye lens

         Genatlas biochemistry entry for CRYBA1:
    crystallin,beta polypeptide A1

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005212structural constituent of eye lens IEA--
    GO:0005515protein binding IPI17046756
    GO:0042803protein homodimerization activity IEA--
         
    Find genes that share ontologies with CRYBA1           About GenesLikeMe


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Cryba1):
     vision/eye 

    Find genes that share phenotypes with CRYBA1           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for CRYBA1

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    hsa-mir-335-5p (MIRT018067)

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol2
    extracellular1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS--
    GO:0005737cytoplasm ISS--

    Find genes that share ontologies with CRYBA1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CRYBA1
    Interactions:

        Search GeneGlobe Interaction Network for CRYBA1

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5 Interacting proteins for CRYBA1 (P058131, 2, 3 ENSP000002253874) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CRYABP025111, 2, 3, ENSP000002272514EBI-7043337,EBI-739060 MINT-3388193 MINT-3388174 I2D: score=1 STRING: ENSP00000227251
    CRYBB3P269983, ENSP000002158554I2D: score=1 STRING: ENSP00000215855
    CRYBB1P536743, ENSP000002159394I2D: score=2 STRING: ENSP00000215939
    CRYBB2P433203I2D: score=1 
    --ENSP000002158614STRING: ENSP00000215861
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002088lens development in camera-type eye IEA--
    GO:0007601visual perception NAS8999933
    GO:0043010camera-type eye development ----

    Find genes that share ontologies with CRYBA1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CRYBA1 (CRBA1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CRYBA1 gene: 
    NM_005208.4  

    Unigene Cluster for CRYBA1:

    Crystallin, beta A1
    Hs.46275  [show with all ESTs]
    Unigene Representative Sequence: NM_005208
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000225387(uc002hdw.3) ENST00000484605
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    Additional mRNA sequence: 

    BC069537.1 BC113693.1 U59058.1 

    3 DOTS entries:

    DT.97854927  DT.97854926  DT.100744937 

    Selected AceView cDNA sequences (see all 146):

    BM668003 BU735083 BM696979 BM706265 BM704988 BM698135 BM696964 BU735164 
    BM668183 BM696648 BU737147 BM697370 BM667112 BM696972 BU735101 BM696479 
    BU734571 BM698199 BM705538 BM697298 BM697866 BM696743 BM705714 BM697944 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for CRYBA1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b
    SP1:                                          
    SP2:                    -                     


    ECgene alternative splicing isoforms for CRYBA1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CRYBA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGACCTTGCT
    CRYBA1 Expression
    About this image


    CRYBA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Eye (Sensory Organs)
             Lens
    CRYBA1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CRYBA1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.46275
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CRYBA1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cryba11 , 5 crystallin, beta A11, 5 90.54(n)1
    95.35(a)1
      11 (46.74 cM)5
    129571  NM_009965.21  NP_034095.11 
     777186155 
    chicken
    (Gallus gallus)
    Aves CRYBA11 crystallin, beta A1 78.91(n)
    84.19(a)
      396499  NM_205502.2  NP_990833.2 
    lizard
    (Anolis carolinensis)
    Reptilia CRYBA16
    crystallin, beta A1
    77(a)
    1 ↔ 1
    GL343462.1(268859-278032)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.288062 Xenopus laevis transcribed sequence with moderate similarity more 79.4(n)    CD329982.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cryba1a1 crystallin, beta A1a 76.87(n)
    81.63(a)
      436683  NM_001002410.1  NP_001002410.1 


    ENSEMBL Gene Tree for CRYBA1 (if available)
    TreeFam Gene Tree for CRYBA1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CRYBA1 gene
    CRYBB32  CRYGB2  CRYBA42  CRYBB22  CRYGD2  CRYGA2  CRYBB12  CRYGC2  
    CRYBA22  CRYGN2  CRYGS2  
    14 SIMAP similar genes for CRYBA1 using alignment to 2 protein entries:     CRBA1_HUMAN (see all proteins):
    CRYBA4    CRYBA2    CRYBB1    CRYBB2    CRYBB3    CRYGN
    CRYGA    CRYGB    CRYGD    CRYGC    CRYBG3    CRYGS
    AIM1    AIM1L

    Find genes that share paralogs with CRYBA1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CRYBA1 (see all 210)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs10477901,2
    C,F,O,A,Huntested127640973(-) AACCAG/ACCCAT 2 /G syn139Minor allele frequency- A:0.25NA EA MN NS WA CSA EU 9389
    rs3719729591,2
    C--27581500(+) TCATT-/AAAAAA 2 -- ut310--------
    rs611702391,2
    C--27581973(+) ATCCT-/CC    
       T
    /TCC
    GCCTC
    2 -- cds10--------
    rs1459800541,2
    --27632121(+) GGGATG/TTGAAC 1 -- us2k10--------
    rs1852327211,2
    --27632217(+) CCCCTA/TCAGGG 1 -- us2k10--------
    rs1905250181,2
    --27632240(+) CCCACA/GATTCC 1 -- us2k10--------
    rs1398738671,2
    C--27632398(+) GCTCAC/TGCCTG 1 -- us2k10--------
    rs728194451,2
    C,F--27632747(+) AGCAAG/AGACAT 1 -- us2k12Minor allele frequency- A:0.05WA NA 238
    rs1820135361,2
    --27632871(+) AAGGTA/TGCCTT 1 -- us2k10--------
    rs80713541,2
    C,F,A,H--27632901(+) CCCAAC/TGATGA 1 -- us2k1 tfbs314Minor allele frequency- T:0.16NA NS EA WA 926

    HapMap Linkage Disequilibrium report for CRYBA1 (27573875 - 27581512 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for CRYBA1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv908032CNV Loss21882294
    nsv908029CNV Loss21882294
    nsv908031CNV Loss21882294

    Human Gene Mutation Database (HGMD): CRYBA1
    Locus Specific Mutation Databases (LSDB): CRYBA1

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 123610   
    OMIM disorders: 600881  
    UniProtKB/Swiss-Prot: CRBA1_HUMAN, P05813
  • Cataract 10, multiple types (CTRCT10) [MIM:600881]: An opacification of the crystalline lens of the eye
    that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a
    portion of the lens, and may be static or progressive. CTRCT10 includes congenital zonular with sutural
    opacities, among others. This is a form of zonular cataract with an erect Y-shaped anterior and an inverted
    Y-shaped posterior sutural opacities. Zonular or lamellar cataracts are opacities, broad or narrow, usually
    consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an
    otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely
    opaque, or so translucent that vision is hardly if at all impeded. Zonular cataracts generally do not involve the
    embryonic nucleus, though sometimes they involve the fetal nucleus. Usually sharply separated from a clear cortex
    outside them, they may have projections from their outer edges known as riders or spokes. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 5 diseases for CRYBA1:    
    About MalaCards
    cataract 10, multiple types    autosomal dominant disease    posterior polar cataract    cataract 23
    cataract

    1 disease from the University of Copenhagen DISEASES database for CRYBA1:
    Posterior polar cataract

    Find genes that share disorders with CRYBA1           About GenesLikeMe

    2 Novoseek inferred disease relationships for CRYBA1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    congenital cataract 84.7 1 17653060 (1)
    cataract 70.2 4 10585769 (1), 9788845 (1), 19262743 (1)

    Genetic Association Database (GAD): CRYBA1

    Export disorders for CRYBA1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CRYBA1 gene, integrated from 10 sources (see all 50):
    (articles sorted by number of sources associating them with CRYBA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of the human beta-crystallin gene Hu beta A3/A1 reveals ancestral relationships among the beta gamma-crystallin superfamily. (PubMed id 3745196)1, 2, 3 Hogg D.... Breitman M.L. (J. Biol. Chem. 1986)
    2. Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene. (PubMed id 9788845)1, 2, 9 Kannabiran C.... Hejtmancik J.F. (Mol. Vis. 1998)
    3. Modifications of human betaA1/betaA3-crystallins include S- methylation, glutathiolation, and truncation. (PubMed id 15576560)1, 2 Lapko V.N.... Smith J.B. (Protein Sci. 2005)
    4. A deletion mutation in the betaA1/A3 crystallin gene ( CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family. (PubMed id 14598164)1, 4 Qi Y....Li Y. (Hum. Genet. 2004)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Characterization of the G91del CRYBA1/3-crystallin protein: a cause of human inherited cataract. (PubMed id 15016766)1, 2 Reddy M.A.... Slingsby C. (Hum. Mol. Genet. 2004)
    7. Sequence analysis of betaA3, betaB3, and betaA4 crystallins completes the identification of the major proteins in young human lens. (PubMed id 8999933)1, 2 Lampi K.J....David L.L. (J. Biol. Chem. 1997)
    8. Assignment of a human beta-crystallin gene to 17cen-q23. (PubMed id 3770741)1, 3 Sparkes R.S....Horwitz J. (Hum. Genet. 1986)
    9. Two Chinese families with pulverulent congenital cataracts and deltaG91 CRYBA1 mutations. (PubMed id 17653060)1, 9 Lu S....Larsson C. (Mol. Vis. 2007)
    10. Mutation in the betaA3/A1-crystallin encoding gene Cryba1 causes a dominant cataract in the mouse. (PubMed id 10585769)1, 9 Graw J....HrabAc de Angelis M. (Genomics 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1411 HGNC: 2394 AceView: CRYBA1 Ensembl:ENSG00000108255 euGenes: HUgn1411
    ECgene: CRYBA1 H-InvDB: CRYBA1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CRYBA1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CRYBA1 gene:
    Search GeneIP for patents involving CRYBA1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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