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Aliases for CRYBB1 Gene

Aliases for CRYBB1 Gene

  • Crystallin Beta B1 2 3 5
  • Beta-B1 Crystallin 3 4
  • Eye Lens Structural Protein 3
  • Crystallin, Beta B1 2
  • Beta-Crystallin B1 3
  • CTRCT17 3
  • CATCN3 3

External Ids for CRYBB1 Gene

Previous GeneCards Identifiers for CRYBB1 Gene

  • GC22M023691
  • GC22M025319
  • GC22M026995
  • GC22M009942

Summaries for CRYBB1 Gene

Entrez Gene Summary for CRYBB1 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 basic group member, undergoes extensive cleavage at its N-terminal extension during lens maturation. It is also a member of a gene cluster with beta-A4, beta-B2, and beta-B3. [provided by RefSeq, Jul 2008]

GeneCards Summary for CRYBB1 Gene

CRYBB1 (Crystallin Beta B1) is a Protein Coding gene. Diseases associated with CRYBB1 include Cataract 17, Multiple Types and Cataract Microcornea Syndrome. GO annotations related to this gene include structural constituent of eye lens. An important paralog of this gene is CRYBB3.

UniProtKB/Swiss-Prot for CRYBB1 Gene

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

Gene Wiki entry for CRYBB1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CRYBB1 Gene

Genomics for CRYBB1 Gene

Regulatory Elements for CRYBB1 Gene

Enhancers for CRYBB1 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
GH22F026640 1.2 FANTOM5 ENCODE 13 -25.3 -25317 5.2 HDGF ATF1 PKNOX1 ARNT CREB3L1 ARID4B YBX1 ZNF2 ETS1 YY1 TPST2 CRYBB1 CRYBA4 HMGB1P10 MIR548J TFIP11 HPS4 SRRD LINC01422 MIATNB
GH22F026591 0.7 ENCODE 12.2 +24.7 24685 3.3 HDGF BCOR PKNOX1 ZMYM3 BMI1 ZNF366 POLR2A SCRT2 EED ETV6 CRYBB1 HMGB1P10 MIR548J TFIP11 TPST2
GH22F026646 1.5 FANTOM5 Ensembl ENCODE 12.2 -30.2 -30213 3.0 MAX SIN3A ZNF366 POLR2A SCRT2 NFE2 FOS EGR2 HLF GFI1B TPST2 HMGB1P10 HPS4 SRRD CRYBB1 MIR548J CRYBA4 TFIP11 MIAT MIATNB
GH22F026584 0.2 ENCODE 12.1 +30.2 30230 6.2 ATF1 SIN3A ARID4B YY1 ZNF121 GLIS2 FOS KLF7 SP3 MBD2 TPST2 CRYBA4 CRYBB1 HMGB1P10 MIR548J TFIP11
GH22F026566 0.9 Ensembl ENCODE 11.8 +49.8 49831 2.8 TEAD4 MAX YBX1 ZIC2 ETS1 IRF9 ZNF366 POLR2A ZNF169 PRDM10 TPST2 TFIP11 CRYBA4 CRYBB1 HMGB1P10
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CRYBB1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CRYBB1 Gene

Chromosome:
22
Start:
26,599,278 bp from pter
End:
26,618,088 bp from pter
Size:
18,811 bases
Orientation:
Minus strand

Genomic View for CRYBB1 Gene

Genes around CRYBB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CRYBB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CRYBB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CRYBB1 Gene

Proteins for CRYBB1 Gene

  • Protein details for CRYBB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P53674-CRBB1_HUMAN
    Recommended name:
    Beta-crystallin B1
    Protein Accession:
    P53674

    Protein attributes for CRYBB1 Gene

    Size:
    252 amino acids
    Molecular mass:
    28023 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.

    Three dimensional structures from OCA and Proteopedia for CRYBB1 Gene

neXtProt entry for CRYBB1 Gene

Post-translational modifications for CRYBB1 Gene

  • Specific cleavages in the N-terminal arm occur during lens maturation and give rise to truncated forms, leading to impaired oligomerization and protein insolubilization.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CRYBB1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CRYBB1 Gene

Domains & Families for CRYBB1 Gene

Gene Families for CRYBB1 Gene

Suggested Antigen Peptide Sequences for CRYBB1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P53674

UniProtKB/Swiss-Prot:

CRBB1_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 CRYBB1: view

Function for CRYBB1 Gene

Molecular function for CRYBB1 Gene

GENATLAS Biochemistry:
crystallin,beta polypeptide B1
UniProtKB/Swiss-Prot Function:
Crystallins are the dominant structural components of the vertebrate eye lens.

Gene Ontology (GO) - Molecular Function for CRYBB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005212 structural constituent of eye lens IEA --
GO:0005515 protein binding IPI 21044950
genes like me logo Genes that share ontologies with CRYBB1: view
genes like me logo Genes that share phenotypes with CRYBB1: view

Human Phenotype Ontology for CRYBB1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CRYBB1 Gene

Localization for CRYBB1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CRYBB1 Gene COMPARTMENTS Subcellular localization image for CRYBB1 gene
Compartment Confidence
cytosol 2
nucleus 2
extracellular 1
mitochondrion 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CRYBB1 Gene

Pathways & Interactions for CRYBB1 Gene

SuperPathways for CRYBB1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CRYBB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007601 visual perception IEA,TAS --
genes like me logo Genes that share ontologies with CRYBB1: view

No data available for Pathways by source and SIGNOR curated interactions for CRYBB1 Gene

Transcripts for CRYBB1 Gene

mRNA/cDNA for CRYBB1 Gene

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

Unigene Clusters for CRYBB1 Gene

Crystallin, beta B1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CRYBB1 Gene

No ASD Table

Relevant External Links for CRYBB1 Gene

GeneLoc Exon Structure for
CRYBB1
ECgene alternative splicing isoforms for
CRYBB1

Expression for CRYBB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CRYBB1 Gene

Protein differential expression in normal tissues from HIPED for CRYBB1 Gene

This gene is overexpressed in Vitreous humor (68.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CRYBB1 Gene



Protein tissue co-expression partners for CRYBB1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CRYBB1 Gene:

CRYBB1

SOURCE GeneReport for Unigene cluster for CRYBB1 Gene:

Hs.37135
genes like me logo Genes that share expression patterns with CRYBB1: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CRYBB1 Gene

Orthologs for CRYBB1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CRYBB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CRYBB1 34 35
  • 98.94 (n)
cow
(Bos Taurus)
Mammalia CRYBB1 34 35
  • 88.17 (n)
dog
(Canis familiaris)
Mammalia CRYBB1 34 35
  • 85.08 (n)
mouse
(Mus musculus)
Mammalia Crybb1 34 16 35
  • 81.09 (n)
rat
(Rattus norvegicus)
Mammalia Crybb1 34
  • 81.09 (n)
oppossum
(Monodelphis domestica)
Mammalia CRYBB1 35
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves CRYBB1 34 35
  • 75.56 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia crybb1 34
  • 67.44 (n)
Str.5611 34
African clawed frog
(Xenopus laevis)
Amphibia LOC397730 34
zebrafish
(Danio rerio)
Actinopterygii crybb1 34 35
  • 68.31 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3580 34
Species where no ortholog for CRYBB1 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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 CRYBB1 Gene

ENSEMBL:
Gene Tree for CRYBB1 (if available)
TreeFam:
Gene Tree for CRYBB1 (if available)

Paralogs for CRYBB1 Gene

Paralogs for CRYBB1 Gene

(13) SIMAP similar genes for CRYBB1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CRYBB1: view

Variants for CRYBB1 Gene

Sequence variations from dbSNP and Humsavar for CRYBB1 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
VAR_070030 Cataract 17, multiple types (CTRCT17) [MIM:611544]
rs74315488 Pathogenic 26,599,591(-) AGTGG(G/T)GAGCC reference, stop-gained
rs864309682 Likely pathogenic 26,607,953(-) CCCTC(A/G)CTGGA upstream-variant-2KB, reference, missense
rs111387772 -- 26,611,459(+) TTTTT(-/G)TTTTT intron-variant
rs111921488 -- 26,605,449(+) CGGGT(-/AGATCACTTG)AGATC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CRYBB1 Gene

Variant ID Type Subtype PubMed ID
esv2758831 CNV loss 17122850
esv3325854 CNV insertion 20981092
esv3368108 CNV insertion 20981092
nsv7350 OTHER inversion 18451855

Variation tolerance for CRYBB1 Gene

Residual Variation Intolerance Score: 58.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.32; 26.23% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CRYBB1 Gene

Human Gene Mutation Database (HGMD)
CRYBB1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CRYBB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CRYBB1 Gene

Disorders for CRYBB1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for CRYBB1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cataract 17, multiple types
  • cataract 17 multiple types
cataract microcornea syndrome
  • microcornea cataract syndrome
cataract 30, pulverulent
  • cataract 30
early-onset nuclear cataract
cataract
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CRBB1_HUMAN
  • Cataract 17, multiple types (CTRCT17) [MIM:611544]: 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. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT17 includes nuclear and pulverulent cataracts, among others. Nuclear cataracts affect the central nucleus of the eye, are often not highly visually significant. The density of the opacities varies greatly from fine dots to a dense, white and chalk-like, central cataract. The condition is usually bilateral. Nuclear cataracts are often combined with opacified cortical fibers encircling the nuclear opacity, which are referred to as cortical riders. Pulverulent cataracts are characterized by a dust-like, pulverised appearance of the opacities which can be found in any part of the lens. {ECO:0000269 PubMed:12360425, ECO:0000269 PubMed:17460281, ECO:0000269 PubMed:23508780}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=CRYBB1 mutations may be a cause of congenital cataract and microcornea syndrome, a disease characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism. Clinical findings include a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye, and an inherited cataract, which is most often bilateral posterior polar with opacification in the lens periphery. The cataract progresses to form a total cataract after visual maturity has been achieved, requiring cataract extraction in the first to third decade of life (PubMed:16110300 and PubMed:21972112). {ECO:0000305 PubMed:16110300, ECO:0000305 PubMed:21972112}.

Relevant External Links for CRYBB1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CRYBB1
genes like me logo Genes that share disorders with CRYBB1: view

No data available for Genatlas for CRYBB1 Gene

Publications for CRYBB1 Gene

  1. A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q. (PMID: 12360425) Mackay D.S. … Shiels A. (Am. J. Hum. Genet. 2002) 2 3 4 22 64
  2. Assignment of the beta B1 crystallin gene (CRYBB1) to human chromosome 22 and mouse chromosome 5. (PMID: 8575764) Hulsebos T.J.M. … Copeland N.G. (Genomics 1995) 2 3 4 22 64
  3. Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract. (PMID: 17460281) Cohen D. … Birk O.S. (Invest. Ophthalmol. Vis. Sci. 2007) 3 4 22 64
  4. A novel mutation in CRYBB1 associated with congenital cataract- microcornea syndrome: the p.Ser129Arg mutation destabilizes the betaB1/betaA3-crystallin heteromer but not the betaB1-crystallin homomer. (PMID: 21972112) Wang K.J. … Zhu S.Q. (Hum. Mutat. 2011) 3 4 64
  5. Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract. (PMID: 19461930) Meyer E. … Maher E.R. (Mol. Vis. 2009) 3 22 64

Products for CRYBB1 Gene

Sources for CRYBB1 Gene

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