• Gene id: 1411

Gene Summary

• Gene Symbol: CRYBA1   Gene   UCSC   Ensembl
• Aliases: CRYB1, CTRCT10
• Gene name: crystallin beta A1
• Alternate names: beta-crystallin A3, beta crystallin A3 chain transcript CN, beta crystallin A3 chain transcript LAM, beta crystallin A3 chain transcript PS, beta crystallin A3 chain transcript TC, crystallin beta A3/A1, crystallin, beta A3, eye lens structural protein, truncated,
• Gene location: 17q11.2 (29246858: 29254493)     Exons: 4     NC_000017.11
• 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: 123610

Protein Summary

• Protein general information: P05813  
  • Name: Beta crystallin A3 [Cleaved into: Beta crystallin A3, isoform A1, Delta4 form; Beta crystallin A3, isoform A1, Delta7 form; Beta crystallin A3, isoform A1, Delta8 form]
  • Length: 215  
  • Mass: 25150
• Sequence:

  METQAEQQELETLPTTKMAQTNPTPGSLGPWKITIYDQENFQGKRMEFTSSCPNVSERSFDNVRSLKVESGAWIG
  YEHTSFCGQQFILERGEYPRWDAWSGSNAYHIERLMSFRPICSANHKESKMTIFEKENFIGRQWEISDDYPSLQA
  MGWFNNEVGSMKIQSGAWVCYQYPGYRGYQYILECDHHGGDYKHWREWGSHAQTSQIQSIRRIQQ

• Structural information:
  • Protein Domains: (31..7-)
    'Greek (/note="Beta/gamma-crystallin)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00028-)
    (71..11-)
    'Greek (/note="Beta/gamma-crystallin)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00028-)
    (124..16-)
    (/note="Beta/-)
  • Interpro: IPR001064  IPR011024  
  • Prosite: PS50915
  • STRING: ENSP00000225387
• Other Databases: GeneCards:  CRYBA1  Malacards:  CRYBA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007601	visual perception	IBA	biological process
GO:0002088	lens development in camera-type eye	IBA	biological process
GO:0005212	structural constituent of eye lens	IBA	molecular function
GO:0005212	structural constituent of eye lens	IEA	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: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: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:0001818	negative regulation of cytokine production	IEA	biological process
GO:0002088	lens development in camera-type eye	IEA	biological process
GO:2000210	positive regulation of anoikis	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0014067	negative regulation of phosphatidylinositol 3-kinase signaling	IEA	biological process
GO:0032007	negative regulation of TOR signaling	IEA	biological process
GO:0051898	negative regulation of protein kinase B signaling	IEA	biological process
GO:0070373	negative regulation of ERK1 and ERK2 cascade	IEA	biological process
GO:0007601	visual perception	IMP	biological process
GO:0003674	molecular_function	ND	molecular function
GO:0007601	visual perception	NAS	biological process
GO:0005737	cytoplasm	ISS	cellular component
GO:0005634	nucleus	ISS	cellular component

Diseases

Associated diseases	References
Cataract	KEGG:H01202
Cataract	KEGG:H01202
Cataract	PMID:24520233
Cataract	PMID:20142846
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)