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alpha-crystallin B chain; alpha(B)-crystallin; heat shock protein beta-5; HspB5; renal carcinoma antigen NY-REN-27; Rosenthal fiber component (CRYAB CRYA2)
Function:
- may contribute to the transparency & refractive index of the lens
- aggregates with homologous proteins, including alpha-A crystallin (CRYAA) & HSPB1 (hsp28), to form large heteromeric complexes
- interacts with HSPBAP1 & TTN/titin
Structure:
- homodimer
- belongs to the small heat shock protein (HSP20) family
Compartment:
- cytoplasm, nucleus
- translocates to the nucleus during heat shock
- resides in nuclear speckles
Expression:
- lens
- other tissues
- brain & Rosenthal fibers in Alexander's disease
Pathology:
- mutations associated with alpha-B crystallinopathy
- antibodies to CRYAB in spinal fluid of patients with multiple sclerosis
- CRYAB confers protective effect in experimental autoimmune encephalomyelitis
- defects in CRYAB are the cause of
a) myofibrillar myopathy type 2
b) cataract posterior polar type 2
c) myofibrillar myopathy fatal infantile hypertonic
General
glycoprotein
heat shock protein [hsp]-20 family or small heat shock protein family
phosphoprotein
protein subunit
Properties
SIZE: entity length = 175 aa
MW = 20 kD
COMPARTMENT: cytoplasm
cell nucleus
MOTIF: acetylation site
SITE: N-TERMINUS
EFFECTOR-BOUND: acetyl
Ser phosphorylation site {S19}
Ser phosphorylation site {S21}
Ser phosphorylation site {S43}
Ser phosphorylation site {S45}
tyrosine residue {48}
Ser phosphorylation site {S53}
Ser phosphorylation site {S59}
tryptophan residue {60}
methionine residue {68}
Ser phosphorylation site {S76}
Thr glycosylation site {T170}
Database Correlations
OMIM correlations
MORBIDMAP 123590
UniProt P02511
PFAM correlations
Entrez Gene 1410
Kegg hsa:1410
References
- UniProt :accession P02511
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/CRYAB
- OMIM :accession 123590
- Entrez Gene :accession 1410
Component-of
alpha-crystallin