CRYAB


Summary: 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. Elevated expression of alpha-B crystallin occurs in many neurological diseases; a missense mutation cosegregated in a family with a desmin-related myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
crystallin alpha BMIM:123590Ensembl:ENSG00000109846HGNC:HGNC:2389PA2690711q23.1

Gene Categories:

CELL SURFACEPROTEASE

GO terms in CRYAB


Term TypeEvidence TypeGO Term IDGO Des.
BPIEAGO:0001666response to hypoxia
BPIEAGO:0002088lens development in camera-type eye
BPIEAGO:0006457protein folding
BPTASGO:0006936muscle contraction
BPIEAGO:0007021tubulin complex assembly
BPIEAGO:0007517muscle organ development
BPIEAGO:0010259multicellular organism aging
BPIEAGO:0010629negative regulation of gene expression
BPIMPGO:0010941regulation of cell death
BPIEAGO:0030308negative regulation of cell growth
BPIEAGO:0031109microtubule polymerization or depolymerization
BPIEAGO:0032355response to estradiol
BPIDAGO:0032387negative regulation of intracellular transport
BPIDAGO:0032463negative regulation of protein homooligomerization
BPIEAGO:0042542response to hydrogen peroxide
BPIDAGO:0043066negative regulation of apoptotic process
BPIEAGO:0043154negative regulation of cysteine-type endopeptidase activity involved in apoptotic process
BPIMPGO:0050821protein stabilization
BPIDAGO:0051260protein homooligomerization
BPIEAGO:0051403stress-activated MAPK cascade
BPIEAGO:0060561apoptotic process involved in morphogenesis
BPIMPGO:0071480cellular response to gamma radiation
BPTASGO:1900034regulation of cellular response to heat
BPIDAGO:1905907negative regulation of amyloid fibril formation
BPTASGO:1905907negative regulation of amyloid fibril formation
BPIEAGO:2000378negative regulation of reactive oxygen species metabolic process
CCIDAGO:0005634nucleus
CCTASGO:0005654nucleoplasm
CCIDAGO:0005737cytoplasm
CCIEAGO:0005739mitochondrion
CCIEAGO:0005794Golgi apparatus
CCIEAGO:0005829cytosol
CCIEAGO:0009986cell surface
CCIEAGO:0014069postsynaptic density
CCIEAGO:0015630microtubule cytoskeleton
CCIEAGO:0030018Z disc
CCIEAGO:0030424axon
CCIEAGO:0031430M band
CCIEAGO:0032432actin filament bundle
CCIEAGO:0043197dendritic spine
CCIEAGO:0043204perikaryon
CCIEAGO:0043209myelin sheath
CCHDAGO:0070062extracellular exosome
CCIEAGO:0097060synaptic membrane
CCIEAGO:0097512cardiac myofibril
MFIPIGO:0001540amyloid-beta binding
MFIEAGO:0005212structural constituent of eye lens
MFIPIGO:0005515protein binding
MFIEAGO:0008017microtubule binding
MFIPIGO:0042802identical protein binding
MFIPIGO:0042803protein homodimerization activity
MFIPIGO:0044877protein-containing complex binding
MFIEAGO:0046872metal ion binding
MFIPIGO:0051082unfolded protein binding

Gene expression in normal tissue: CRYAB

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in CRYAB


DatabasePathway IDPathway Des.
kegghsa04141Protein processing in endoplasmic reticulum - Homo sapiens (human)
kegghsa04213Longevity regulating pathway - multiple species - Homo sapiens (human)
reactomeR-HSA-2262752Cellular responses to stress
reactomeR-HSA-3371556Cellular response to heat stress
reactomeR-HSA-3371571HSF1-dependent transactivation
reactomeR-HSA-8953897Cellular responses to external stimuli

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD353PD03259011

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in CRYAB

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