InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-4701

crystallin, alpha A

IDBP-233813

crystallin, alpha A

IDBP-233815

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

ENSMUSG00000024041

View Gene Order

ENSBTAG00000003134

Not yet available

Pathways

NETPATH

REACTOME

KEGG

hsa04141

Protein processing in endoplasmic reticulum pathway

INOH

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