CRYBB1 - crystallin beta B1 Gene

Also Known as CATCN3; CTRCT17

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1414

About CRYBB1

Cytogenetic location: 22q12.1 Genomic coordinates (GRCh38): 22:26,599,278-26,618,027 (from NCBI)

This gene has 2 transcripts (splice variants), 186 orthologues, 14 paralogues and is associated with 6 phenotypes. Broad expression in placenta (RPKM 1.8), spleen (RPKM 0.7) and 21 other tissues.

Summary

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]

CRYBB1 Products (1)

mRNA	Protein	Name
NM_001887.4	NP_001878.1	beta-crystallin B1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	17662718	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CRYBB1 Protein Structure

Crystall

0
100
200
252 a.a.

Protein Preferred Names	Protein Names
beta-crystallin B1	beta-B1 crystallin

CRYBB1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CRYBB1	P53674	GAS8	Homo sapiens	O95995	Y2H Prey Pooling	32296183
Intra	CRYBB1	P53674	GAS8	Homo sapiens	O95995	Y2H Array	32296183
Intra	CRYBB1	P53674	AP1B1	Homo sapiens	Q10567-3	Y2H Prey Pooling	32296183
Intra	CRYBB1	P53674	AP1B1	Homo sapiens	Q10567-3	Validated Y2H	32296183
Intra	CRYBB1	P53674	AP1B1	Homo sapiens	Q10567-3	Y2H Array	32296183
Intra	CRYBB1	P53674	CRYBA1	Homo sapiens	P05813	Validated Y2H	25910212
Intra	CRYBB1	P53674	CRYBA1	Homo sapiens	P05813	Y2H Bait-Prey Pool	25910212
Intra	CRYBB1	P53674	CRYBA1	Homo sapiens	P05813	Y2H Array	25910212
Intra	CRYBB1	P53674	CRYBA1	Homo sapiens	P05813	Y2H	21516116
Intra	CRYBB1	P53674	CRYBA1	Homo sapiens	P05813	Y2H Prey Pooling	25416956
Intra	CRYBB1	P53674	CRYBA1	Homo sapiens	P05813	Y2H Array	25416956
Intra	CRYBB1	P53674	TERF1	Homo sapiens	P54274	Pull Down	21044950
Intra	CRYBB1	P53674	DDIT4L	Homo sapiens	Q96D03	Validated Y2H	32296183
Intra	CRYBB1	P53674	DDIT4L	Homo sapiens	Q96D03	Y2H Array	32296183
Intra	CRYBB1	P53674	DDIT4L	Homo sapiens	Q96D03	Y2H Prey Pooling	32296183
Intra	CRYBB1	P53674	CRYBA4	Homo sapiens	P53673	Y2H	17662718
Intra	CRYBB1	P53674	EXOC5	Homo sapiens	O00471	Y2H Prey Pooling	32296183
Intra	CRYBB1	P53674	EXOC5	Homo sapiens	O00471	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Cataract 17, Multiple Types	CTRCT17 Cataract, Congenital Nuclear, Autosomal Recessive 3 Catcn3 Cataract 17 Multiple Types Cataract 17, Multiple Types, With Or Without Microcornea Autosomal Recessive Congenital Nuclear Cataract 3
Cataract Microcornea Syndrome	Microcornea Cataract Syndrome Cataract-Microcornea Syndrome
Cataract 30, Multiple Types	CTRCT30 Cataract 30, Pulverulent Pulverulent Cataract Coppock-Like Cataract Dusty Cataract Pulverulent Cataract 30 Cataract 30 Cataract, Pulverulent
Early-Onset Nuclear Cataract
Cataract 9, Multiple Types	Cataract 9 Multiple Types CTRCT9 Cataract, Autosomal Dominant Catc1 Cataract 9, Multiple Types, With Or Without Microcornea Cataract, Autosomal Recessive Congenital 1 Autosomal Recessive Congenital Cataract 1 Cataract 9 Multiple Types With Or Without Microcornea Autosomal Dominant Congenital Cataract Cataract Autosomal Dominant Cataracts, Autosomal Dominant
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities
Deafness, Autosomal Recessive 59	DFNB59 Autosomal Recessive Nonsyndromic Deafness 59 Autosomal Recessive Deafness 59 Deafness, Autosomal Recessive, 59 Dfnb59 Auditory Neuropathy Deafness, Autosomal Recessive, Type 59
Nance-Horan Syndrome	NHS Cataract-Dental Syndrome Cataract, X-Linked, With Hutchinsonian Teeth Mesiodens-Cataract Syndrome Cataract X-Linked With Hutchinsonian Teeth Cataract Dental Syndrome Mesiodens Cataract Syndrome
Abruzzo-Erickson Syndrome	Abruzzo Erickson Syndrome ABERS Charge-Like Syndrome, X-Linked Cleft Palate-Coloboma-Deafness Syndrome Charge Like Syndrome X-Linked Charge-Like Syndrome Cleft Palate-Coloboma-Hearing Loss Syndrome X-Linked Charge-Like Syndrome
Triosephosphate Isomerase Deficiency	TPID Triose Phosphate-Isomerase Deficiency Hemolytic Anemia Due To Triosephosphate Isomerase Deficiency Tpi Deficiency Triose Phosphate Isomerase Deficiency Deficiency Of Phosphotriose Isomerase Hereditary Nonspherocytic Hemolytic Anemia Due To Triosephosphate Isomerase Deficiency
Posterior Polar Cataract	Cataract, Posterior Polar
Senile Cataract
Amblyopia	Lazy Eye
Lens Disease	Lens Diseases
Diabetic Cataract	Cataract - Diabetic
Persistent Hyperplastic Primary Vitreous	Congenital Retinal Detachment Ncrna Disease Non-Syndromic Congenital Retinal Non-Attachment Pfvs Phpv Persistent Fetal Vasculature Syndrome
Iris Disease	Iris Diseases
Aniridia 1	Aniridia Congenital Aniridia AN1 An Cataract With Late-Onset Corneal Dystrophy Aplasia Of Iris Absent Iris Irideremia Aniridia Ii, Formerly An2, Formerly An2 Aniridia Type Ii Aniridia, Type 1 An-1 Absence Of Iris Agenesis Of Iris Congenital Absence Of Iris Hereditary Aniridia Sporadic Aniridia
Anterior Segment Dysgenesis	Anterior Segment Developmental Anomaly Anterior Segment Mesenchymal Dysgenesis Corneal Opacification And Other Ocular Anomalies Sclerocornea With Other Ocular Anomalies Asmd Asod Anterior Segment Ocular Dysgenesis Foxe3-Related Ocular Disorder Familial Ocular Anterior Segment Mesenchymal Dysgenesis Dysgenesis, Anterior Segment Irido-Corneal Dysgenesis Axenfeld-Rieger Syndrome, Type 3
Coloboma Of Macula	Coloboma Congenital Ocular Coloboma Microphthalmia, Isolated, With Coloboma Agenesis Of Macula Hereditary Macular Coloboma Ocular Coloboma Coloboma Of Eye Macular Coloboma Uveoretinal Coloboma
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03210	CRYBB1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	CRYBB1	VGNC	VGNC:27736
Mus musculus	CRYBB1	MGD	MGI:104992
Rattus norvegicus	CRYBB1	RGD	RGD:2416
Macaca mulatta	CRYBB1	VGNC	VGNC:71504
Felis catus	CRYBB1	VGNC	VGNC:61201
Canis familiaris	CRYBB1	VGNC	VGNC:39639
Others	CRYBB1	NCBI