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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| crystallin alpha B | MIM:123590 | Ensembl:ENSG00000109846 | HGNC:HGNC:2389 | PA26907 | 11q23.1 |
GO terms in CRYAB
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IEA | GO:0001666 | response to hypoxia |
| BP | IEA | GO:0002088 | lens development in camera-type eye |
| BP | IEA | GO:0006457 | protein folding |
| BP | TAS | GO:0006936 | muscle contraction |
| BP | IEA | GO:0007021 | tubulin complex assembly |
| BP | IEA | GO:0007517 | muscle organ development |
| BP | IEA | GO:0010259 | multicellular organism aging |
| BP | IEA | GO:0010629 | negative regulation of gene expression |
| BP | IMP | GO:0010941 | regulation of cell death |
| BP | IEA | GO:0030308 | negative regulation of cell growth |
| BP | IEA | GO:0031109 | microtubule polymerization or depolymerization |
| BP | IEA | GO:0032355 | response to estradiol |
| BP | IDA | GO:0032387 | negative regulation of intracellular transport |
| BP | IDA | GO:0032463 | negative regulation of protein homooligomerization |
| BP | IEA | GO:0042542 | response to hydrogen peroxide |
| BP | IDA | GO:0043066 | negative regulation of apoptotic process |
| BP | IEA | GO:0043154 | negative regulation of cysteine-type endopeptidase activity involved in apoptotic process |
| BP | IMP | GO:0050821 | protein stabilization |
| BP | IDA | GO:0051260 | protein homooligomerization |
| BP | IEA | GO:0051403 | stress-activated MAPK cascade |
| BP | IEA | GO:0060561 | apoptotic process involved in morphogenesis |
| BP | IMP | GO:0071480 | cellular response to gamma radiation |
| BP | TAS | GO:1900034 | regulation of cellular response to heat |
| BP | IDA | GO:1905907 | negative regulation of amyloid fibril formation |
| BP | TAS | GO:1905907 | negative regulation of amyloid fibril formation |
| BP | IEA | GO:2000378 | negative regulation of reactive oxygen species metabolic process |
| CC | IDA | GO:0005634 | nucleus |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | IEA | GO:0005739 | mitochondrion |
| CC | IEA | GO:0005794 | Golgi apparatus |
| CC | IEA | GO:0005829 | cytosol |
| CC | IEA | GO:0009986 | cell surface |
| CC | IEA | GO:0014069 | postsynaptic density |
| CC | IEA | GO:0015630 | microtubule cytoskeleton |
| CC | IEA | GO:0030018 | Z disc |
| CC | IEA | GO:0030424 | axon |
| CC | IEA | GO:0031430 | M band |
| CC | IEA | GO:0032432 | actin filament bundle |
| CC | IEA | GO:0043197 | dendritic spine |
| CC | IEA | GO:0043204 | perikaryon |
| CC | IEA | GO:0043209 | myelin sheath |
| CC | HDA | GO:0070062 | extracellular exosome |
| CC | IEA | GO:0097060 | synaptic membrane |
| CC | IEA | GO:0097512 | cardiac myofibril |
| MF | IPI | GO:0001540 | amyloid-beta binding |
| MF | IEA | GO:0005212 | structural constituent of eye lens |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0008017 | microtubule binding |
| MF | IPI | GO:0042802 | identical protein binding |
| MF | IPI | GO:0042803 | protein homodimerization activity |
| MF | IPI | GO:0044877 | protein-containing complex binding |
| MF | IEA | GO:0046872 | metal ion binding |
| MF | IPI | GO:0051082 | unfolded protein binding |
Gene expression in normal tissue: CRYAB
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CRYAB
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa04141 | Protein processing in endoplasmic reticulum - Homo sapiens (human) |
| kegg | hsa04213 | Longevity regulating pathway - multiple species - Homo sapiens (human) |
| reactome | R-HSA-2262752 | Cellular responses to stress |
| reactome | R-HSA-3371556 | Cellular response to heat stress |
| reactome | R-HSA-3371571 | HSF1-dependent transactivation |
| reactome | R-HSA-8953897 | Cellular responses to external stimuli |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CRYAB
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