Tbio | Beta-crystallin S |
Crystallins are the dominant structural components of the vertebrate eye lens.
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. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. This gene encodes a protein initially considered to be a beta-crystallin but the encoded protein is monomeric and has greater sequence similarity to other gamma-crystallins. This gene encodes the most significant gamma-crystallin in adult eye lens tissue. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008]
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. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. This gene encodes a protein initially considered to be a beta-crystallin but the encoded protein is monomeric and has greater sequence similarity to other gamma-crystallins. This gene encodes the most significant gamma-crystallin in adult eye lens tissue. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008]
Comments
Disease | Target Count |
---|---|
Cataract 20, multiple types | 1 |
Pseudoaphakia | 1 |
Disease | Target Count | P-value |
---|---|---|
subependymal giant cell astrocytoma | 2287 | 0.0273952492793592 |
Disease | Target Count |
---|---|
cataract 20 multiple types | 1 |
Species | Source |
---|---|
Chimp | OMA EggNOG |
Mouse | OMA EggNOG Inparanoid |
Rat | OMA EggNOG Inparanoid |
Cow | OMA EggNOG Inparanoid |
Opossum | OMA EggNOG Inparanoid |
Platypus | OMA EggNOG Inparanoid |
Chicken | OMA EggNOG Inparanoid |
Anole lizard | OMA EggNOG Inparanoid |
PMID | Text |
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26158710 | The data suggest that enhanced attractive protein-protein interactions, arising from the deamidation of HGS, promote protein aggregation, thereby leading to increased light scattering and opacity over time. |
24328668 | novel mutation (G57W) in CRYGS in this Chinese family is associated with autosomal dominant pulverulent cataract. |
24287181 | The effects of the V41M mutation on the structural changes of gamma S-crystallin were studied. |
23761725 | The cataract-associated mutant D26G of human gammaS-crystallin is remarkably close to the wild type molecule in structural features, with only a microenvironmental change in the packing around the mutation site. |
23284690 | replacement of valine in position 42 by the longer and bulkier methionine in human gammaS-crystallin perturbs the compact beta-sheet core packing topology in the N-terminal domain of the molecule |
22995907 | age-dependent cleavage of gammaS-crystallin generates a peptide that binds to cell membranes |
22858140 | A crystallin variant, derived from the C-terminal domain of the eye lens protein human gammaS-crystallin, interacts with the integrase C-terminal domain and inhibits integrase substrate affinity |
22593035 | The degree of deamidation for Gln92 and Gln170 was found to increase from birth to teen-age years and then to remain constant for four decades. |
21866213 | Novel mutations in the crystalline genes have been identified in Chinese families with congenital cataracts. |
21447408 | The presence of significant amounts of small peptides derived from gammaS- and betaB1-crystallins in the water-insoluble fraction of the lens indicates that these interact tightly with cytoskeletal or membrane components. |
More... |
PMID | Year | Title |
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26158710 | 2015 | Deamidation of Human ?S-Crystallin Increases Attractive Protein Interactions: Implications for Cataract. |
24328668 | 2015 | A G57W Mutation of CRYGS Associated with Autosomal Dominant Pulverulent Cataracts in a Chinese Family. |
24287181 | 2014 | The cataract-associated V41M mutant of human ?S-crystallin shows specific structural changes that directly enhance local surface hydrophobicity. |
23942779 | 2013 | A genome-wide association study of behavioral disinhibition. |
23761725 | 2013 | Structural analysis of the mutant protein D26G of human ?S-crystallin, associated with Coppock cataract. |
23284690 | 2012 | The mutation V42M distorts the compact packing of the human gamma-S-crystallin molecule, resulting in congenital cataract. |
22995907 | 2012 | Degradation of an old human protein: age-dependent cleavage of ?S-crystallin generates a peptide that binds to cell membranes. |
22593035 | 2012 | Age-dependent deamidation of glutamine residues in human ?S crystallin: deamidation and unstructured regions. |
21866213 | 2011 | Mutation analysis of 12 genes in Chinese families with congenital cataracts. |
21447408 | 2011 | Truncation, cross-linking and interaction of crystallins and intermediate filament proteins in the aging human lens. |
More... |