InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CRYAB

Summary

InnateDB Protein

IDBP-589858.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CRYAB

Protein Name

crystallin, alpha B

Synonyms

CMD1II; CRYA2; CTPP2; CTRCT16; HEL-S-101; HSPB5; MFM2;

Species

Homo sapiens

Ensembl Protein

ENSP00000436051

InnateDB Gene

IDBG-71081 (CRYAB)

Protein Structure

UniProt Annotation

Function

May contribute to the transparency and refractive index of the lens. Has chaperone-like activity, preventing aggregation of various proteins under a wide range of stress conditions.

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:19464326}. Nucleus {ECO:0000269PubMed:19464326}. Note=Translocates to the nucleus during heat shock and resides in sub-nuclear structures known as SC35 speckles or nuclear splicing speckles.

Disease Associations

Myopathy, myofibrillar, 2 (MFM2) [MIM:608810]: A neuromuscular disorder that results in weakness of the proximal and distal limb muscles, weakness of the neck, velopharynx and trunk muscles, hypertrophic cardiomyopathy, and cataract in a subset of patients. {ECO:0000269PubMed:14681890, ECO:0000269PubMed:21920752, ECO:0000269PubMed:9731540}. Note=The disease is caused by mutations affecting the gene represented in this entry.Cataract 16, multiple types (CTRCT16) [MIM:613763]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT16 includes posterior polar cataract, among others. Posterior polar cataract is a subcapsular opacity, usually disk-shaped, located at the back of the lens. {ECO:0000269PubMed:11577372}. Note=The disease is caused by mutations affecting the gene represented in this entry.Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related (MFMFIH-CRYAB) [MIM:613869]: A muscular dystrophy with onset in the first weeks of life after a normal neonatal period. Affected infants show rapidly progressive muscular rigidity of the trunk and limbs associated with increasing respiratory difficulty resulting in death before age 3 years. {ECO:0000269PubMed:21337604}. Note=The disease is caused by mutations affecting the gene represented in this entry.Cardiomyopathy, dilated 1II (CMD1II) [MIM:615184]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269PubMed:16483541, ECO:0000269PubMed:16793013}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Lens as well as other tissues.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 98 experimentally validated interaction(s) in this database.
They are also associated with 12 interaction(s) predicted by orthology.

Experimentally validated
Total	98 [view]
Protein-Protein	98 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	12 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005212	structural constituent of eye lens
GO:0005515	protein binding
GO:0042802	identical protein binding
GO:0042803	protein homodimerization activity
GO:0046872	metal ion binding
GO:0051082	unfolded protein binding

Biological Process

GO:0006936	muscle contraction
GO:0010941	regulation of cell death
GO:0032387	negative regulation of intracellular transport
GO:0043066	negative regulation of apoptotic process
GO:0051260	protein homooligomerization
GO:0071480	cellular response to gamma radiation

Cellular Component

GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR001436 Alpha crystallin/Heat shock protein
IPR002068 Alpha crystallin/Hsp20 domain
IPR003090 Alpha-crystallin, N-terminal
IPR008978 HSP20-like chaperone

PFAM

PF00011
PF00525

PRINTS

PR00299

PIRSF

PIRSF036514

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt