CRYBA1 (crystallin beta A1)

Gene

• Entrez ID: 1411
• Gene name: Crystallin beta A1
• Gene symbol: CRYBA1
• Synonyms (NCBI Gene): CRYB1, CTRCT10
• Chromosome: 17
• Chromosome location: 17q11.2
• 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 l

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs775038545	G>A,C,T	Likely-pathogenic	Splice donor variant
rs786205628	AGAG>-,AG	Uncertain-significance, likely-pathogenic	Coding sequence variant, frameshift variant
rs1064797219	GAG>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1264025914	G>A,T	Pathogenic	Splice donor variant
rs1555547008	GTGGGTATC>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1567671947	CA>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018067	hsa-miR-335-5p	Microarray	18185580
MIRT1970193	hsa-miR-214	CLIP-seq
MIRT1970194	hsa-miR-3143	CLIP-seq
MIRT1970195	hsa-miR-3619-5p	CLIP-seq
MIRT1970196	hsa-miR-4291	CLIP-seq
MIRT1970197	hsa-miR-488	CLIP-seq
MIRT1970198	hsa-miR-543	CLIP-seq
MIRT1970199	hsa-miR-646	CLIP-seq
MIRT1970200	hsa-miR-761	CLIP-seq
MIRT1970201	hsa-miR-922	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001818	Process	Negative regulation of cytokine production	IEA
GO:0002088	Process	Lens development in camera-type eye	IBA
GO:0002088	Process	Lens development in camera-type eye	IEA
GO:0005212	Function	Structural constituent of eye lens	IBA
GO:0005212	Function	Structural constituent of eye lens	IEA
GO:0005515	Function	Protein binding	IPI	17046756, 21516116, 25416956, 25910212, 32296183
GO:0006909	Process	Phagocytosis	IEA
GO:0007601	Process	Visual perception	IBA
GO:0007601	Process	Visual perception	NAS	8999933
GO:0010506	Process	Regulation of autophagy	IEA
GO:0032007	Process	Negative regulation of TOR signaling	IEA
GO:0051898	Process	Negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0070373	Process	Negative regulation of ERK1 and ERK2 cascade	IEA
GO:2000210	Process	Positive regulation of anoikis	IEA

Other IDs

• MIM: 123610
• HGNC: 2394
• e!Ensembl: ENSG00000108255

Protein

• UniProt ID: P05813
• Protein 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]
• Protein function: Crystallins are the dominant structural components of the vertebrate eye lens.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00030	Crystall	32 → 116	Beta/Gamma crystallin	Domain
  PF00030	Crystall	125 → 213	Beta/Gamma crystallin	Domain

• Sequence:

  METQAEQQELETLPTTKMAQTNPTPGSLGPWKITIYDQENFQGKRMEFTSSCPNVSERSF
  DNVRSLKVESGAWIGYEHTSFCGQQFILERGEYPRWDAWSGSNAYHIERLMSFRPICSAN
  HKESKMTIFEKENFIGRQWEISDDYPSLQAMGWFNNEVGSMKIQSGAWVCYQYPGYRGYQ
  YILECDHHGGDYKHWREWGSHAQTSQIQSIRRIQQ

• Sequence length: 215

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Cataract 10 multiple types	Pathogenic; Likely pathogenic	rs1264025914, rs2153009764, rs775038545, rs745555171, rs2545741796, rs1064797219, rs1555547008, rs1567671947	RCV001385882 RCV001542604 RCV003992534 RCV001780883 RCV002466853 RCV000490399 RCV001040033 RCV000530803 RCV000018463 RCV000678553 RCV000694288
CRYBA1-related disorder	Pathogenic; Likely pathogenic	rs1264025914	RCV003898364 RCV003892402

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Familial cancer of breast	Likely benign	rs138633445	RCV005917453

Associations from Text Mining
Disease Name	Relationship Type	References
Cataract	Associate	14693780, 18587492, 20142846, 21139983, 21850182, 22665976, 22919269, 24319337, 29914532, 31488069, 37165913, 38216115, 9788845
Cataract Autosomal Dominant	Associate	28120589
Cataract Autosomal Dominant Nuclear	Associate	21139983, 22665976, 33243271
Cataract congenital dominant non nuclear	Associate	22919269
Cataract Congenital Zonular with Sutural Opacities	Associate	9788845
Cataract Nuclear Progressive	Associate	21686330, 22665976
Chromosome Aberrations	Associate	21686330
Esotropia	Associate	31488069
Leukemia Promyelocytic Acute	Associate	2491776
Male sterility due to Y chromosome deletions	Associate	21850182
Nystagmus Pathologic	Associate	31488069
X Linked Infantile Nystagmus	Associate	28378818