InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CRYAA

Summary

InnateDB Protein

IDBP-4701.6

Last Modified

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

Gene Symbol

CRYAA

Protein Name

crystallin, alpha A

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000291554

InnateDB Gene

IDBG-4699 (CRYAA)

Protein Structure

UniProt Annotation

Function

Contributes 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. {ECO:0000269PubMed:22120592}.

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

Note=Alpha-crystallin A 1-172 is found at nearly twofold higher levels in diabetic lenses than in age-matched control lenses. {ECO:0000269PubMed:12356833}.Cataract 9, multiple types (CTRCT9) [MIM:604219]: 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. CTRCT9 includes nuclear, zonular central nuclear, anterior polar, cortical, embryonal, anterior subcapsular, fan-shaped, and total cataracts, among others. In some cases cataract is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. {ECO:0000269PubMed:14512969, ECO:0000269PubMed:16453125, ECO:0000269PubMed:18302245, ECO:0000269PubMed:18407550, ECO:0000269PubMed:23508780, ECO:0000269PubMed:9467006}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in eye lens. {ECO:0000269PubMed:12356833}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 24 experimentally validated interaction(s) in this database.

Experimentally validated
Total	24 [view]
Protein-Protein	24 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

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

Biological Process

GO:0007601	visual perception
GO:0032387	negative regulation of intracellular transport
GO:0043066	negative regulation of apoptotic process
GO:0051260	protein homooligomerization

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