Homo sapiens Gene: CRYAA
Summary
InnateDB Gene IDBG-4699.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CRYAA
Gene Name crystallin, alpha A
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000160202
Encoded Proteins
crystallin, alpha A
crystallin, alpha A
crystallin, alpha A
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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 lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Alpha crystallins are composed of two gene products: alpha-A and alpha-B, for acidic and basic, respectively. Alpha crystallins can be induced by heat shock and are members of the small heat shock protein (sHSP also known as the HSP20) family. They act as molecular chaperones although they do not renature proteins and release them in the fashion of a true chaperone; instead they hold them in large soluble aggregates. Post-translational modifications decrease the ability to chaperone. These heterogeneous aggregates consist of 30-40 subunits; the alpha-A and alpha-B subunits have a 3:1 ratio, respectively. Two additional functions of alpha crystallins are an autokinase activity and participation in the intracellular architecture. Alpha-A and alpha-B gene products are differentially expressed; alpha-A is preferentially restricted to the lens and alpha-B is expressed widely in many tissues and organs. Defects in this gene cause autosomal dominant congenital cataract (ADCC). [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 21:43169008-43172805
Strand Forward strand
Band q22.3
Transcripts
ENST00000291554 ENSP00000291554
ENST00000398133 ENSP00000381201
ENST00000398132 ENSP00000381200
ENST00000482775
ENST00000468016
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
Protein processing in endoplasmic reticulum pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.707697
RefSeq NM_000394 XM_006723930 XM_006726801
HUGO
OMIM
CCDS CCDS13695
HPRD 00427
IMGT
EMBL
GenPept
RNA Seq Atlas