CRYBB1 Gene
protein-coding GIFtS: 54
GCID: GC22M026995
|
|
crystallin, beta B1
| |
Aliases
for CRYBB1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Crystallin, Beta B11 2 | | Beta-B1 Crystallin2 3 | | CATCN32 5 | | Beta-Crystallin B12 | | Eye Lens Structural Protein2 |
Export aliases for CRYBB1 gene to outside databasesPrevious GC identifers: GC22M023691 GC22M025319 GC22M009942 |
Summaries
for CRYBB1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for CRYBB1:
Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes themajor proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lenscentral fiber cells lose their nuclei during development, these crystallins are made and then retained throughoutlife, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gammafamilies; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further dividedinto acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connectingpeptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of theC-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates ofdifferent 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)
UniProtKB/Swiss-Prot: CRBB1_HUMAN, P53674Function: Crystallins are the dominant structural components of the vertebrate eye lens
Gene Wiki entry for CRYBB1
|
Genomic Views
for CRYBB1 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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000022.10 NC_018933.1 NT_011520.12
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the CRYBB1 gene promoter:
Pax-5 POU2F1 POU2F1a
Other transcription factors
Search SABiosciences Chromatin IP Primers for CRYBB1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CRYBB1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 22q12.1 Ensembl cytogenetic band: 22q12.1 HGNC cytogenetic band: 22q12.1CRYBB1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 22 GeneLoc Exon Structure GeneLoc location for GC22M026995: view genomic region
(about GC identifiers)
Start:
|
26,995,242 bp from pter |
End:
|
27,014,052 bp from pter |
Size:
|
18,811 bases |
Orientation:
|
minus strand |
|
Proteins
for CRYBB1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: CRBB1_HUMAN, P53674 (See
protein sequence)Recommended Name: Beta-crystallin B1 Size: 252 amino acids; 28023 Da
Subunit: Homo/heterodimer, or complexes of higher-order. The structure of beta-crystallin oligomers seems to bestabilized through interactions between the N-terminal arms
Mass spectrometry: Mass=27941; Mass_error=6; Method=Electrospray; Range=2-252; Source=PubMed:8626774;
1 PDB 3D structure from  and Proteopedia  for CRYBB1:1OKI (3D)
Explore the universe of human proteins at neXtProt for CRYBB1: NX_P53674
Post-translational modifications:
Specific cleavages in the N-terminal arm occur during lens maturation and give rise to truncated forms, leading toimpaired oligomerization and protein insolubilization1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P53674
CRYBB1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_001878.1
ENSEMBL proteins: ENSP00000215939
Human Recombinant Protein Products:
CRYBB1 Antibody Products:
Assay Products for CRYBB1: |
Protein
Domains /
Families
for CRYBB1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
CRYBB1 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P53674ProtoNet protein and cluster: P53674 2 Blocks protein families: IPB001064 Beta and gamma crystallin IPB011024 Gamma-crystallin related
UniProtKB/Swiss-Prot: CRBB1_HUMAN, P53674Domain: Has a two-domain beta-structure, folded into four very similar Greek key motifsSimilarity: Belongs to the beta/gamma-crystallin familySimilarity: Contains 4 beta/gamma crystallin 'Greek key' domains |
Function
for CRYBB1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: CRBB1_HUMAN, P53674Function: Crystallins are the dominant structural components of the vertebrate eye lens Genatlas biochemistry entry for CRYBB1:crystallin,beta polypeptide B1
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CRYBB1
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CRYBB1 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005212 | structural constituent of eye lens |
IEA | -- |
CRYBB1 for ontologies About GeneDecksing
2 GenomeRNAi human phenotypes for CRYBB1:
|
Pathways & Interactions
for CRYBB1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CRYBB1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 6)
5/9 Interacting proteins for CRYBB1 (P536742, 3 ENSP000002159394) via UniProtKB, MINT, STRING, and/or I2D (see all 9)About this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table
CRYBB1 for ontologies About GeneDecksing
|
Drugs & Compounds
for CRYBB1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for CRYBB1
1 DrugBank Compound for CRYBB1 About this table
Search CenterWatch for drugs/clinical trials and news about CRYBB1 / CRBB1
|
Transcripts
for CRYBB1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for CRYBB1 gene: NM_001887.3 Unigene Cluster for CRYBB1: Crystallin, beta B1 Hs.37135 [show with all ESTs]Unigene Representative Sequence: BC0367901 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000215939(uc003acy.1)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CRYBB1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CRYBB1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: CRYBB1 (NM_001887) | | | DNA2.0 Custom Codon Optimized Gene
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Additional cDNA sequence: BC036790.1 CR456425.1 U35340.1 5 DOTS entries: DT.97847879 DT.91748498 DT.91748503 DT.75140199 DT.97803663 24/141 AceView cDNA sequences (see all 141): BM696873 BF726675 BM722129 BF726393 BM710768 CD674020 BM706380 BU735455 BM706288 BM696591 BM669086 BU735459 NM_001887 BM697110 BM668033 BU737057 BM697025 BF727401 CR456425 BF726406 CD674021 BF726666 BU584587 BF726742
GeneLoc Exon Structure
|
Expression
for CRYBB1 gene
(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™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| CRYBB1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See CRYBB1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CRYBB1
SOURCE GeneReport for Unigene cluster: Hs.37135
SABiosciences Custom PCR Arrays for CRYBB1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CRYBB1
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CRYBB1 |
Orthologs
for CRYBB1 gene
(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)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for CRYBB1 gene from 3/10 species (see all 10) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
CRYBB11 |
crystallin, beta B1 |
74.64(n)
67.39(a) |
|
374000 NM_204180.1 NP_989511.1 |
African clawed frog
(Xenopus laevis) |
Amphibia |
LOC3977302 |
beta B1 crystallin |
74.47(n) |
|
D88186.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
crybb12 |
crystallin, beta B1 |
77.4(n) |
|
114418 AJ317957.1 |
ENSEMBL Gene Tree for CRYBB1 (if available)
TreeFam Gene Tree for CRYBB1 (if available) |
Paralogs
for CRYBB1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for CRYBB1 gene
- CRYBB32 CRYBA42 CRYGB2 CRYBA12 CRYBB22 CRYGD2 CRYGA2 CRYGC2
- CRYGN2 CRYBA22 CRYGS2
13 SIMAP similar genes for CRYBB1 using alignment to 1 protein entry: CRBB1_HUMAN:CRYBB3 CRYBB2 CRYBA1 CRYBA4 CRYBA2 CRYGS
CRYGA CRYBG3 CRYGB CRYGC CRYGD DKFZp434L1713
AIM1L
CRYBB1 for paralogs About GeneDecksing
|
Genomic Variants
for CRYBB1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 22 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for CRYBB1 (26995242 - 27014052 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for CRYBB1
1 CNV: 4121
Human Gene Mutation Database (HGMD): CRYBB1
Locus Specific Mutation Databases (LSDB): CRYBB1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CRYBB1 |
|
Disorders
/ Diseases
for CRYBB1 gene
(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.)
About This Section
|
CRYBB1 for disorders About GeneDecksing
OMIM gene information: 600929
OMIM disorders: 611544
UniProtKB/Swiss-Prot: CRBB1_HUMAN, P53674
Defects in CRYBB1 are the cause of cataract congenital nuclear autosomal recessive type 3 (CATCN3)[MIM:611544]. A congenital cataract affecting the central nucleus of the eye. Nuclear cataracts are often not highlyvisually 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 corticalfibers encircling the nuclear opacity, which are referred to as cortical riders Defects in CRYBB1 are a cause of cataract-microcornea syndrome (CAMIS) [MIM:116150]. An ocular disordercharacterized by the association of congenital cataract and microcornea without any other systemic anomaly ordysmorphism. Clinical findings include a corneal diameter inferior to 10 mm in both meridians in an otherwise normaleye, and an inherited cataract, which is most often bilateral posterior polar with opacification in the lensperiphery. The cataract progresses to form a total cataract after visual maturity has been achieved, requiringcataract extraction in the first to third decade of life. Microcornea-cataract syndrome can be associated with otherrare ocular manifestations, including myopia, iris coloboma, sclerocornea and Peters anomaly. Transmission is in mostcases autosomal dominant, but cases of autosomal recessive transmission have recently been described
13  diseases for CRYBB1: About MalaCardscataract, congenital nuclear, autosomal recessive 3 cataract, pulverulent cataracts, autosomal dominant age related macular degeneration
cataract cataract microcornea syndrome peters anomaly macular degeneration
congenital cataracts senile cataract coloboma myopia
uveitis
1 disease from the University of Copenhagen DISEASES database for CRYBB1:Senile cataract 3 Novoseek disease relationships for CRYBB1 gene About this table
Export disorders for CRYBB1 gene to outside databases
|
Publications
for CRYBB1 gene (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)
About This Section
|
PubMed articles for CRYBB1 gene, integrated from 9 sources (see all 50):
(articles sorted by number of sources associating them with CRYBB1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Assignment of the beta B1 crystallin gene (CRYBB1) to human chromosome 22 and mouse chromosome 5. (PubMed id 8575764)1, 2, 3, 9 Hulsebos T.J.M.... Copeland N.G. (1995)
- Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract. (PubMed id 17460281)1, 2, 9 Cohen D.... Birk O.S. (2007)
- A nonsense mutation in CRYBB1 associated with autosom al dominant cataract linked to human chromosome 22q. (PubMed id 12360425)1, 3, 9 Mackay D.S....Shiels A. (2002)
- CRYBB1 mutation associated with congenital cataract and microcornea. (PubMed id 16110300)1, 2 Willoughby C.E....Heon E. (2005)
- Oligomerization and phase transitions in aqueous solutions of native and truncated human beta B1-crystallin. (PubMed id 15667225)1, 2 Annunziata O.... Benedek G.B. (2005)
- 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. (2004)
- A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (2004)
- Crystal structure of truncated human betaB1-crystallin. (PubMed id 14573871)1, 2 Van Montfort R.L.... Slingsby C. (2003)
- The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I....O'Brien K.P. (1999)
- The sequence of human betaB1-crystallin cDNA allows mass spectrometric detection of betaB1 protein missing portions of its N- terminal extension. (PubMed id 8626774)1, 2 David L.L.... Smith J.B. (1996)
|
External Searches for CRYBB1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing CRYBB1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing CRYBB1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing CRYBB1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for CRYBB1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for CRYBB1 gene:
Search GeneIP for patents involving CRYBB1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for CRYBB1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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