• Gene id: 1414

Gene Summary

• Gene Symbol: CRYBB1   Gene   UCSC   Ensembl
• Aliases: CATCN3, CTRCT17
• Gene name: crystallin beta B1
• Alternate names: beta-crystallin B1, beta-B1 crystallin, eye lens structural protein,
• Gene location: 22q12.1 (26618103: 26599277)     Exons: 6     NC_000022.11
• Gene summary(Entrez): 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 l
• OMIM: 611750

Protein Summary

• Protein general information: P53674  
  • Name: Beta crystallin B1 (Beta B1 crystallin)
  • Length: 252  
  • Mass: 28023
• Sequence:

  MSQAAKASASATVAVNPGPDTKGKGAPPAGTSPSPGTTLAPTTVPITSAKAAELPPGNYRLVVFELENFQGRRAE
  FSGECSNLADRGFDRVRSIIVSAGPWVAFEQSNFRGEMFILEKGEYPRWNTWSSSYRSDRLMSFRPIKMDAQEHK
  ISLFEGANFKGNTIEIQGDDAPSLWVYGFSDRVGSVKVSSGTWVGYQYPGYRGYQYLLEPGDFRHWNEWGAFQPQ
  MQSLRRLRDKQWHLEGSFPVLATEPPK

• Structural information:
  • Protein Domains: (59..9-)
    'Greek (/note="Beta/gamma-crystallin)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00028-)
    (99..14-)
    'Greek (/note="Beta/gamma-crystallin)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00028-)
    (149..19-)
    (/note="Beta/-)
  • Interpro: IPR001064  IPR033059  IPR011024  
  • Prosite: PS50915
  • PDB: 1OKI
  • PDBsum: 1OKI
  • STRING: ENSP00000215939
• Other Databases: GeneCards:  CRYBB1  Malacards:  CRYBB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0002088	lens development in camera-type eye	IBA	biological process
GO:0007601	visual perception	IBA	biological process
GO:0005212	structural constituent of eye lens	IBA	molecular function
GO:0007601	visual perception	IEA	biological process
GO:0005212	structural constituent of eye lens	IEA	molecular function
GO:0005212	structural constituent of eye lens	IEA	molecular function
GO:0007601	visual perception	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005212	structural constituent of eye lens	IEA	molecular function

Diseases

Associated diseases	References
Cataract	KEGG:H01202
Cataract	KEGG:H01202
Cataract	PMID:12360425
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881