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Aliases for CRYBB1 Gene

Aliases for CRYBB1 Gene

  • Crystallin, Beta B1 2 3
  • Beta-B1 Crystallin 3 4
  • CTRCT17 3 6
  • CATCN3 3 6
  • Eye Lens Structural Protein 3
  • Beta-Crystallin B1 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 nuclear cataract. GO annotations related to this gene include structural constituent of eye lens. An important paralog of this gene is CRYGC.

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

Genomic Location for CRYBB1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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
    Secondary Accessions:

    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

Proteomics data for CRYBB1 Gene at MOPED

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 for CRYBB1 Gene

Protein Domains 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 :
  • P53674
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

No data available for Gene Families for CRYBB1 Gene

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 21516116
genes like me logo Genes that share ontologies with CRYBB1: view

Phenotypes for CRYBB1 Gene

GenomeRNAi human phenotypes for CRYBB1:
genes like me logo Genes that share phenotypes with CRYBB1: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CRYBB1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting 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 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 TAS 8626774
genes like me logo Genes that share ontologies with CRYBB1: view

No data available for Pathways by source for CRYBB1 Gene

Compounds for CRYBB1 Gene

(1) Drugbank Compounds for CRYBB1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Double Oxidized Cysteine
target
genes like me logo Genes that share compounds with CRYBB1: view

Transcripts for CRYBB1 Gene

mRNA/cDNA for CRYBB1 Gene

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

Unigene Clusters for CRYBB1 Gene

Crystallin, beta B1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CRYBB1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for CRYBB1
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

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 for CRYBB1 Gene

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for CRYBB1 Gene

SOURCE GeneReport for Unigene cluster for CRYBB1 Gene Hs.37135

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

In Situ Assay 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 35
  • 98.94 (n)
  • 98.41 (a)
CRYBB1 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CRYBB1 35
  • 88.17 (n)
  • 88 (a)
CRYBB1 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CRYBB1 35
  • 85.08 (n)
  • 84.27 (a)
CRYBB1 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Crybb1 35
  • 81.09 (n)
  • 80.25 (a)
Crybb1 16
Crybb1 36
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CRYBB1 36
  • 70 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Crybb1 35
  • 81.09 (n)
  • 81.51 (a)
chicken
(Gallus gallus)
Aves CRYBB1 35
  • 75.56 (n)
  • 70.48 (a)
CRYBB1 36
  • 66 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC397730 35
tropical clawed frog
(Silurana tropicalis)
Amphibia crybb1 35
  • 67.44 (n)
  • 65.74 (a)
Str.5611 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3580 35
zebrafish
(Danio rerio)
Actinopterygii crybb1 35
  • 68.31 (n)
  • 62.78 (a)
crybb1 36
  • 58 (a)
OneToOne
Species with no ortholog for CRYBB1:
  • 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

Selected 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 MAF
rs728786 -- 26,601,798(+) TGATG(G/T)TATAA intron-variant
rs2301438 -- 26,601,378(+) TGCCC(A/C)TTGCC intron-variant
rs2301439 -- 26,601,419(+) TTTAG(C/G)CTCAC intron-variant
rs2301440 -- 26,601,518(+) AAGCT(C/T)CTGAT intron-variant
rs2301441 -- 26,601,766(+) TGTGG(A/T)AGGGG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv7350 OTHER Inversion 18451855
dgv1397e1 CNV Complex 17122850
esv273297 CNV Insertion 20981092
esv267667 CNV Insertion 20981092

Relevant External Links for CRYBB1 Gene

HapMap Linkage Disequilibrium report
CRYBB1
Human Gene Mutation Database (HGMD)
CRYBB1
Locus Specific Mutation Databases (LSDB)
CRYBB1

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

Disorders for CRYBB1 Gene

(1) OMIM Diseases for CRYBB1 Gene (600929)

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 (CCMC), 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).

(1) University of Copenhagen DISEASES for CRYBB1 Gene

(3) Novoseek inferred disease relationships for CRYBB1 Gene

Disease -log(P) Hits PubMed IDs
cataract, autosomal dominant 93.5 2
congenital cataract 83.9 6
cataract 65.8 6
genes like me logo Genes that share disorders with CRYBB1: view

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 23
  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 23
  3. Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract. (PMID: 17460281) Cohen D. … Birk O.S. (Invest. Ophthalmol. Vis. Sci. 2007) 3 4 23
  4. The sequence of human betaB1-crystallin cDNA allows mass spectrometric detection of betaB1 protein missing portions of its N- terminal extension. (PMID: 8626774) David L.L. … Smith J.B. (J. Biol. Chem. 1996) 3 4
  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 23

Products for CRYBB1 Gene

  • antibodies-online proteins for CRYBB1
  • antibodies-online antibodies for CRYBB1
  • antibodies-online kits for CRYBB1

Sources for CRYBB1 Gene

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