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Aliases for CRYBA1 Gene

Aliases for CRYBA1 Gene

  • Crystallin, Beta A1 2 3
  • CRYB1 3 4 6
  • Eye Lens Structural Protein 2 3
  • CTRCT10 3 6
  • Beta Crystallin A3 Chain Transcript LAM 3
  • Beta Crystallin A3 Chain Transcript CN 3
  • Beta Crystallin A3 Chain Transcript PS 3
  • Beta Crystallin A3 Chain Transcript TC 3
  • Crystallin, Beta A3 3
  • Beta-Crystallin A3 3

External Ids for CRYBA1 Gene

Previous HGNC Symbols for CRYBA1 Gene

  • CRYB1

Previous GeneCards Identifiers for CRYBA1 Gene

  • GC17M027303
  • GC17P029473
  • GC17P027425
  • GC17P027719
  • GC17P024598
  • GC17P027573
  • GC17P023782

Summaries for CRYBA1 Gene

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 cataract with y-shaped suture opacities. GO annotations related to this gene include protein homodimerization activity and structural constituent of eye lens. An important paralog of this gene is CRYGC.

UniProtKB/Swiss-Prot for CRYBA1 Gene

  • Crystallins are the dominant structural components of the vertebrate eye lens

Gene Wiki entry for CRYBA1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CRYBA1 Gene

Genomics for CRYBA1 Gene

Regulatory Elements for CRYBA1 Gene

Genomic Location for CRYBA1 Gene

29,246,857 bp from pter
29,254,494 bp from pter
7,638 bases
Plus strand

Genomic View for CRYBA1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CRYBA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CRYBA1 Gene

Proteins for CRYBA1 Gene

  • Protein details for CRYBA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Beta-crystallin A3
    Protein Accession:
    Secondary Accessions:
    • Q13633
    • Q14CM9

    Protein attributes for CRYBA1 Gene

    215 amino acids
    Molecular mass:
    25150 Da
    Quaternary structure:
    • 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).

    Alternative splice isoforms for CRYBA1 Gene


neXtProt entry for CRYBA1 Gene

Proteomics data for CRYBA1 Gene at MOPED

Post-translational modifications for CRYBA1 Gene

  • Isoform A1 initiator methionine is removed. The new N-terminal amino acid is then N-acetylated.
  • S-methylation and glutathionylation occur in normal young lenses and do not seem to be detrimental.
  • 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 solubility.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CRYBA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for CRYBA1 Gene

Domains for CRYBA1 Gene

Protein Domains for CRYBA1 Gene

Suggested Antigen Peptide Sequences for CRYBA1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Has a two-domain beta-structure, folded into four very similar Greek key motifs
  • Belongs to the beta/gamma-crystallin family.
  • Has a two-domain beta-structure, folded into four very similar Greek key motifs
  • Contains 4 beta/gamma crystallin Greek key domains.
  • Belongs to the beta/gamma-crystallin family.
genes like me logo Genes that share domains with CRYBA1: view

No data available for Gene Families for CRYBA1 Gene

Function for CRYBA1 Gene

Molecular function for CRYBA1 Gene

GENATLAS Biochemistry:
crystallin,beta polypeptide A1
UniProtKB/Swiss-Prot Function:
Crystallins are the dominant structural components of the vertebrate eye lens

Gene Ontology (GO) - Molecular Function for CRYBA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005212 structural constituent of eye lens IEA --
GO:0005515 protein binding IPI 17046756
GO:0042803 protein homodimerization activity IEA --
genes like me logo Genes that share ontologies with CRYBA1: view

Phenotypes for CRYBA1 Gene

MGI mutant phenotypes for CRYBA1:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with CRYBA1: view

miRNA for CRYBA1 Gene

miRTarBase miRNAs that target CRYBA1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CRYBA1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for CRYBA1 Gene

Localization for CRYBA1 Gene

Subcellular locations from

Jensen Localization Image for CRYBA1 Gene COMPARTMENTS Subcellular localization image for CRYBA1 gene
Compartment Confidence
nucleus 4
cytosol 2
extracellular 1

Gene Ontology (GO) - Cellular Components for CRYBA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm ISS --
genes like me logo Genes that share ontologies with CRYBA1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CRYBA1 Gene

Pathways for CRYBA1 Gene

SuperPathways for CRYBA1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CRYBA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002088 lens development in camera-type eye IEA --
GO:0007601 visual perception NAS 8999933
GO:0043010 camera-type eye development --
genes like me logo Genes that share ontologies with CRYBA1: view

No data available for Pathways by source for CRYBA1 Gene

Transcripts for CRYBA1 Gene

mRNA/cDNA for CRYBA1 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(146) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CRYBA1 Gene

Crystallin, beta A1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CRYBA1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CRYBA1 Gene

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

Relevant External Links for CRYBA1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CRYBA1 Gene

mRNA expression in normal human tissues for CRYBA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for CRYBA1 Gene

This gene is overexpressed in Vitreous humor (68.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CRYBA1 Gene

SOURCE GeneReport for Unigene cluster for CRYBA1 Gene Hs.46275

genes like me logo Genes that share expressions with CRYBA1: view

Expression partners for CRYBA1 Gene

* - Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CRYBA1 Gene

Orthologs for CRYBA1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CRYBA1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia CRYBA1 35
  • 91.32 (n)
  • 93.49 (a)
  • 94 (a)
(Canis familiaris)
Mammalia CRYBA1 35
  • 93.02 (n)
  • 96.28 (a)
  • 96 (a)
(Mus musculus)
Mammalia Cryba1 35
  • 90.54 (n)
  • 95.35 (a)
Cryba1 16
Cryba1 36
  • 95 (a)
(Pan troglodytes)
Mammalia CRYBA1 35
  • 99.22 (n)
  • 99.53 (a)
  • 100 (a)
(Rattus norvegicus)
Mammalia Cryba1 35
  • 92.09 (n)
  • 95.35 (a)
(Monodelphis domestica)
Mammalia CRYBA1 36
  • 89 (a)
(Ornithorhynchus anatinus)
Mammalia CRYBA1 36
  • 76 (a)
(Gallus gallus)
Aves CRYBA1 35
  • 78.91 (n)
  • 84.19 (a)
  • 84 (a)
(Anolis carolinensis)
Reptilia CRYBA1 36
  • 77 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cryba1 35
  • 77.27 (n)
  • 82.32 (a)
Str.11862 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.28806 35
(Danio rerio)
Actinopterygii cryba1a 35
  • 76.87 (n)
  • 81.63 (a)
cryba1a 36
  • 78 (a)
Species with no ortholog for CRYBA1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CRYBA1 Gene

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

Paralogs for CRYBA1 Gene

Paralogs for CRYBA1 Gene

(14) SIMAP similar genes for CRYBA1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with CRYBA1: view

Variants for CRYBA1 Gene

Sequence variations from dbSNP and Humsavar for CRYBA1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs1047790 -- 29,253,738(-) AACCA(A/G)CCCAT reference, synonymous-codon
rs1129656 -- 29,252,194(+) GCCCC(A/G/T)TCTGT reference, missense
rs1129658 -- 29,254,222(+) ATATC(C/T)TGGAT reference, missense
rs1517623 -- 29,250,768(+) CCCCA(C/T)GACTC intron-variant
rs1638005 -- 29,246,079(-) CTCCA(C/T)TTTCC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for CRYBA1 Gene

Variant ID Type Subtype PubMed ID
nsv908029 CNV Loss 21882294
nsv908031 CNV Loss 21882294
nsv908032 CNV Loss 21882294

Relevant External Links for CRYBA1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)
Locus Specific Mutation Databases (LSDB)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CRYBA1 Gene

Disorders for CRYBA1 Gene

(1) OMIM Diseases for CRYBA1 Gene (123610)


  • 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. {ECO:0000269 PubMed:15016766, ECO:0000269 PubMed:9788845}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for CRYBA1 Gene

(2) Novoseek inferred disease relationships for CRYBA1 Gene

Disease -log(P) Hits PubMed IDs
congenital cataract 84.7 1
cataract 70.2 3

Relevant External Links for CRYBA1

Genetic Association Database (GAD)
genes like me logo Genes that share disorders with CRYBA1: view

No data available for Genatlas for CRYBA1 Gene

Publications for CRYBA1 Gene

  1. Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene. (PMID: 9788845) Kannabiran C. … Hejtmancik J.F. (Mol. Vis. 1998) 3 4 23
  2. Characterization of the human beta-crystallin gene Hu beta A3/A1 reveals ancestral relationships among the beta gamma-crystallin superfamily. (PMID: 3745196) Hogg D. … Breitman M.L. (J. Biol. Chem. 1986) 2 3 4
  3. Assignment of a human beta-crystallin gene to 17cen-q23. (PMID: 3770741) Sparkes R.S. … Horwitz J. (Hum. Genet. 1986) 2 3
  4. Two Chinese families with pulverulent congenital cataracts and deltaG91 CRYBA1 mutations. (PMID: 17653060) Lu S. … Larsson C. (Mol. Vis. 2007) 3 23
  5. Crystallin gene mutations in Indian families with inherited pediatric cataract. (PMID: 18587492) Devi R.R. … Hejtmancik J.F. (Mol. Vis. 2008) 3 23

Products for CRYBA1 Gene

Sources for CRYBA1 Gene

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