CRYAA Gene Summary [Human]

Mammalian lens crystallins are divided into alpha, beta, and gamma families. 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 (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. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. 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, Jan 2014]

Details

Type
Protein Coding
Official Symbol
CRYAA
Official Name
crystallin alpha A [Source:HGNC Symbol;Acc:HGNC:2388]
Ensembl ID
ENSG00000160202
Bio databases IDs NCBI: 1409 Ensembl: ENSG00000160202
Aliases crystallin alpha A
Synonyms Acry-1, CRYA1, crystallin alpha A, crystallin, alpha A, Crystallin α A, Crystallin, α A, CTRCT9, DAcry-1, HSPB4, lop18
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CRYAA often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • structural constituent of eye lens
  • alpha-crystallin Hsps/p23-like
  • Hsp20/alpha crystallin family
  • protein binding
  • structural molecule
  • identical protein binding
  • C-terminal extension
  • Alpha crystallin A chain, N terminal

Pathways

Biological processes and signaling networks where the CRYAA gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • congenital cataract
  • systemic lupus erythematosus
  • autosomal recessive cataract 9
  • multiple types cataract 9
  • hereditary disorder
  • multiple types cataract 9 with microcornea
  • nuclear cataract
  • cataract disease
  • microphthalmia
  • total cataract 9
regulated by
regulates
  • Casp9
  • CASP3
  • reactive oxygen species
  • F Actin
  • histone H3
  • cytochrome C
  • CASP9
  • CASP6
  • DNA promoter
  • DNA endogenous promoter
role in cell
  • replication in
  • apoptosis
  • activation
  • growth
  • formation
  • organization
  • assembly
  • disintegration
  • aggregation in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • soluble fraction
  • Nucleus
  • Golgi Apparatus
  • cytosol
  • nucleoplasm

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human CRYAA gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • response to heat
  • negative regulation of apoptotic process
  • negative regulation of intracellular transport
  • visual perception
  • lens development in camera-type eye
  • protein refolding
  • protein stabilization

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • cytoplasm
  • cytosol
  • macromolecular complex
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • identical protein binding
  • protein binding
  • metal ion binding
  • structural molecule activity
  • unfolded protein binding
  • structural constituent of eye lens

Gene-Specific Assays for Results You Can Trust

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