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Aliases for CRYBA1 Gene

Aliases for CRYBA1 Gene

  • Crystallin Beta A1 2 3 5
  • Eye Lens Structural Protein 2 3
  • CRYB1 3 4
  • 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
  • Truncated Beta Crystallin A3/A1 Chain 3
  • Truncated Beta-Crystallin A3 3
  • Crystallin Beta A3/A1 3
  • Crystallin, Beta A1 2
  • Crystallin, Beta A3 3
  • Beta-Crystallin A3 3
  • CTRCT10 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 25. GO annotations related to this gene include protein homodimerization activity and structural constituent of eye lens. An important paralog of this gene is CRYBA4.

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

Enhancers for CRYBA1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F029212 1.6 FANTOM5 Ensembl ENCODE 12.4 -33.9 -33945 1.3 HDAC1 PKNOX1 INSM2 KLF17 SIN3A NFXL1 SCRT2 ZNF143 FOS SMARCA5 MYO18A CRYBA1 TIAF1 TAOK1 NEK8 GIT1 TWF1P1
GH17F029146 1.5 FANTOM5 ENCODE 11.6 -97.2 -97154 6.7 HDGF PKNOX1 ARNT WRNIP1 ARID4B SIN3A DMAP1 YBX1 ZNF2 YY1 MYO18A ENSG00000265289 NUFIP2 ENSG00000264647 MIR4723 TIAF1 NDUFS5P7 LOC105371716 LOC105371715 ENSG00000266111
GH17F029153 1.3 Ensembl ENCODE 11.6 -89.7 -89666 7.6 HDGF PKNOX1 MLX ARID4B DMAP1 ZNF48 YY1 SLC30A9 ZNF121 GLIS2 MYO18A CRYBA1 TIAF1 PROCA1 LOC105371717
GH17F029167 1.1 Ensembl ENCODE 11.6 -78.6 -78607 1.4 ELF3 TFAP4 SAP130 ZNF792 SIN3A FEZF1 DMAP1 ZIC2 ZSCAN9 KMT2B MYO18A CRYBA1 TIAF1 LOC105371717
GH17F029195 1.1 Ensembl ENCODE 11.1 -50.8 -50757 2.2 PKNOX1 ZNF223 MAX ZIC2 RARA ZNF316 POLR2A NFYB EED FOS CRYBA1 LOC100421028 MYO18A
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CRYBA1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CRYBA1 Gene

Chromosome:
17
Start:
29,246,857 bp from pter
End:
29,254,494 bp from pter
Size:
7,638 bases
Orientation:
Plus strand

Genomic View for CRYBA1 Gene

Genes around CRYBA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CRYBA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    P05813-CRBA1_HUMAN
    Recommended name:
    Beta-crystallin A3
    Protein Accession:
    P05813
    Secondary Accessions:
    • Q13633
    • Q14CM9

    Protein attributes for CRYBA1 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for CRYBA1 Gene

Post-translational modifications for CRYBA1 Gene

  • 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:

No data available for DME Specific Peptides for CRYBA1 Gene

Domains & Families for CRYBA1 Gene

Gene Families 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

P05813

UniProtKB/Swiss-Prot:

CRBA1_HUMAN :
  • Has a two-domain beta-structure, folded into four very similar Greek key motifs.
  • Belongs to the beta/gamma-crystallin family.
Domain:
  • Has a two-domain beta-structure, folded into four very similar Greek key motifs.
  • Contains 4 beta/gamma crystallin Greek key domains.
Family:
  • Belongs to the beta/gamma-crystallin family.
genes like me logo Genes that share domains with CRYBA1: view

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
genes like me logo Genes that share ontologies with CRYBA1: view
genes like me logo Genes that share phenotypes with CRYBA1: view

Human Phenotype Ontology for CRYBA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CRYBA1 Gene

MGI Knock Outs for CRYBA1:

Animal Model Products

miRNA for CRYBA1 Gene

miRTarBase miRNAs that target CRYBA1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

Localization for CRYBA1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CRYBA1 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1
lysosome 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 & Interactions 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:0001818 negative regulation of cytokine production IEA --
GO:0002088 lens development in camera-type eye IEA --
GO:0007601 visual perception NAS 8999933
GO:0014067 negative regulation of phosphatidylinositol 3-kinase signaling IEA --
GO:0032007 negative regulation of TOR signaling IEA --
genes like me logo Genes that share ontologies with CRYBA1: view

No data available for Pathways by source and SIGNOR curated interactions for CRYBA1 Gene

Transcripts for CRYBA1 Gene

mRNA/cDNA for CRYBA1 Gene

Unigene Clusters for CRYBA1 Gene

Crystallin, beta A1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

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

Relevant External Links for CRYBA1 Gene

GeneLoc Exon Structure for
CRYBA1
ECgene alternative splicing isoforms for
CRYBA1

Expression for CRYBA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CRYBA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CRYBA1 Gene

This gene is overexpressed in Vitreous humor (68.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CRYBA1 Gene



Protein tissue co-expression partners for CRYBA1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CRYBA1 Gene:

CRYBA1

SOURCE GeneReport for Unigene cluster for CRYBA1 Gene:

Hs.46275
genes like me logo Genes that share expression patterns with CRYBA1: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia CRYBA1 34 35
  • 99.22 (n)
dog
(Canis familiaris)
Mammalia CRYBA3 35
  • 96 (a)
OneToOne
CRYBA1 34
  • 93.02 (n)
rat
(Rattus norvegicus)
Mammalia Cryba1 34
  • 92.09 (n)
cow
(Bos Taurus)
Mammalia CRYBA1 34 35
  • 91.32 (n)
mouse
(Mus musculus)
Mammalia Cryba1 34 16 35
  • 90.54 (n)
oppossum
(Monodelphis domestica)
Mammalia CRYBA1 35
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CRYBA1 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves CRYBA1 34 35
  • 78.91 (n)
lizard
(Anolis carolinensis)
Reptilia CRYBA1 35
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cryba1 34
  • 77.27 (n)
Str.11862 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.28806 34
zebrafish
(Danio rerio)
Actinopterygii cryba1a 34 35
  • 76.87 (n)
Species where no ortholog for CRYBA1 was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for CRYBA1 (if available)
TreeFam:
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
rs786205628 Likely pathogenic 29,254,286(+) CATTG(-/GAGA)GAGTG reference, frameshift-variant
rs117757092 Uncertain significance 29,253,757(+) AAGTC(A/G)GCTCC reference, missense
rs1047790 Benign 29,253,738(-) AACCA(A/G)CCCAT reference, synonymous-codon
rs142631461 Benign 29,249,184(+) TACGC(C/T)GGGGT reference, missense
rs72819448 Benign 29,250,316(+) ACTTC(C/T)GCAGA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv953873 CNV duplication 24416366
nsv1116210 CNV deletion 24896259

Variation tolerance for CRYBA1 Gene

Residual Variation Intolerance Score: 52% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.64; 31.52% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CRYBA1 Gene

Human Gene Mutation Database (HGMD)
CRYBA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CRYBA1

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

Disorders for CRYBA1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for CRYBA1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cataract 10, multiple types
  • cataract 10 multiple types
cataract 25
  • ccsso
early-onset nuclear cataract
cataract 16, multiple types
  • cataract 16 multiple types
cataract
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CRBA1_HUMAN
  • 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.

Relevant External Links for CRYBA1

Genetic Association Database (GAD)
CRYBA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CRYBA1
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 22 64
  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 64
  3. Crystallin gene mutations in Indian families with inherited pediatric cataract. (PMID: 18587492) Devi R.R. … Hejtmancik J.F. (Mol. Vis. 2008) 3 22 64
  4. Two Chinese families with pulverulent congenital cataracts and deltaG91 CRYBA1 mutations. (PMID: 17653060) Lu S. … Larsson C. (Mol. Vis. 2007) 3 22 64
  5. Modifications of human betaA1/betaA3-crystallins include S- methylation, glutathiolation, and truncation. (PMID: 15576560) Lapko V.N. … Smith J.B. (Protein Sci. 2005) 3 4 64

Products for CRYBA1 Gene

Sources for CRYBA1 Gene

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