{ "uniprot_canonical_ac": "P11844-1", "uniprot_ac": "P11844", "uniprot_id": "CRGA_HUMAN", "mass": { "chemical_mass": 20877.0, "monoisotopic_mass": 20877.0 }, "refseq": { "ac": "NP_055432", "name": "gamma-crystallin A", "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. 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. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055432" }, "gene_names": [ { "name": "CRYGA", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P11844", "id": "P11844" }, { "name": "CRY-g-A; CRYG1; CRYG5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055432", "id": "NP_055432" }, { "name": "CRYG1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P11844", "id": "P11844" }, { "name": "CRYGA", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055432", "id": "NP_055432" } ], "protein_names": [ { "name": "Gamma-crystallin A", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P11844" }, { "name": "Gamma-A-crystallin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11844" }, { "name": "Gamma-crystallin 5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11844" }, { "name": "crystallin, gamma 1; gamma-crystallin 5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055432", "id": "NP_055432" }, { "name": "gamma-crystallin A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055432", "id": "NP_055432" } ], "function": [ { "annotation": "A novel cataract-causing mutation Ile82Met of gammaA crystallin trends to aggregate with unfolding intermediate.", "evidence": [ { "database": "RefSeq", "id": "NP_055432", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055432" }, { "database": "PubMed", "id": "35513103", "url": "https://glygen.org/publication/PubMed/35513103" } ] }, { "annotation": "Cataract-causing mutation R48C increases gammaA-crystallin susceptibility to oxidative stress and ultraviolet radiation.", "evidence": [ { "database": "RefSeq", "id": "NP_055432", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055432" }, { "database": "PubMed", "id": "34826455", "url": "https://glygen.org/publication/PubMed/34826455" } ] }, { "annotation": "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. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_055432", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055432" } ] }, { "annotation": "Crystallins are the dominant structural components of the vertebrate eye lens.", "evidence": [ { "database": "UniProtKB", "id": "P11844", "url": "https://www.uniprot.org/uniprot/P11844#function" } ] }, { "annotation": "Studies show that The major proteins in the lens--alpha, beta, and gamma-crystallins--are constantly subjected to age-related changes. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_055432", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055432" }, { "database": "PubMed", "id": "19463898", "url": "https://glygen.org/publication/PubMed/19463898" } ] }, { "annotation": "This study establishes baseline frequency data for four SNPs in CRYGA and CRYGB genes for future case control studies on the role of these SNPs in the genetic basis of cataract. GeneRIF: Observational study of genotype prevalence. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_055432", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055432" }, { "database": "PubMed", "id": "19384013", "url": "https://glygen.org/publication/PubMed/19384013" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "P11844", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P11844" } ], "glycoeffect": [], "start_pos": 142, "end_pos": 142, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "208160905", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R142", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - 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Med. Genet.", "date": "2002", "authors": "Santhiya ST, Shyam Manohar M, Rawlley D, Vijayalakshmi P, Namperumalsamy P, Gopinath PM, Loster J, Graw J", "evidence": [ { "database": "UniProtKB", "id": "P11844", "url": "https://www.uniprot.org/uniprot/P11844" } ], "reference": [ { "type": "PubMed", "id": "12011157", "url": "https://glygen.org/publication/PubMed/12011157" } ] }, { "title": "Homology models of human gamma-crystallins: structural study of the extensive charge network in gamma-crystallins.", "journal": "Biochem. Biophys. Res. Commun.", "date": "2003", "authors": "Salim A, Zaidi ZH", "evidence": [ { "database": "UniProtKB", "id": "P11844", "url": "https://www.uniprot.org/uniprot/P11844" } ], "reference": [ { "type": "PubMed", "id": "12507494", "url": "https://glygen.org/publication/PubMed/12507494" } ] }, { "title": "Analysis of single nucleotide polymorphisms of CRYGA and CRYGB genes in control population of western Indian origin.", "journal": "Indian journal of ophthalmology", "date": "2009", "authors": "Kapur S, Mehra S, Gajjar D, Vasavada A, Kapoor M, Sharad S, Alapure B, Rajkumar S", "evidence": [ { "database": "RefSeq", "id": "NP_055432", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055432" } ], "reference": [ { "type": "PubMed", "id": "19384013", "url": "https://glygen.org/publication/PubMed/19384013" } ] }, { "title": "Lens aging: effects of crystallins.", "journal": "Biochimica et biophysica acta", "date": "2009", "authors": "Sharma KK, Santhoshkumar P", "evidence": [ { "database": "RefSeq", "id": "NP_055432", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055432" } ], "reference": [ { "type": "PubMed", "id": "19463898", "url": "https://glygen.org/publication/PubMed/19463898" } ] }, { "title": "High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia.", "journal": "G3 (Bethesda, Md.)", "date": "2017", "authors": "Javadiyan S, Craig JE, Souzeau E, Sharma S, Lower KM, Mackey DA, Staffieri SE, Elder JE, Taranath D, Straga T, Black J, Pater J, Casey T, Hewitt AW, Burdon KP", "evidence": [ { "database": "UniProtKB", "id": "P11844", "url": "https://www.uniprot.org/uniprot/P11844" } ], "reference": [ { "type": "PubMed", "id": "28839118", "url": "https://glygen.org/publication/PubMed/28839118" } ] }, { "title": "The genetic landscape of crystallins in congenital cataract.", "journal": "Orphanet journal of rare diseases", "date": "2020", "authors": "Berry V, Ionides A, Pontikos N, Georgiou M, Yu J, Ocaka LA, Moore AT, Quinlan RA, Michaelides M", "evidence": [ { "database": "UniProtKB", "id": "P11844", "url": "https://www.uniprot.org/uniprot/P11844" } ], "reference": [ { "type": "PubMed", "id": "33243271", "url": "https://glygen.org/publication/PubMed/33243271" } ] }, { "title": "Cataract-causing mutation R48C increases gammaA-crystallin susceptibility to oxidative stress and ultraviolet radiation.", "journal": "International journal of biological macromolecules", "date": "2022", "authors": "Wu J, Xu W, Wu W, Xu J, Zheng S, Shentu X, Chen X", "evidence": [ { "database": "RefSeq", "id": "NP_055432", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055432" } ], "reference": [ { "type": "PubMed", "id": "34826455", "url": "https://glygen.org/publication/PubMed/34826455" } ] }, { "title": "A novel cataract-causing mutation Ile82Met of gammaA crystallin trends to aggregate with unfolding intermediate.", "journal": "International journal of biological macromolecules", "date": "2022", "authors": "Xu W, Xu J, Shi C, Wu J, Wang H, Wu W, Chen X, Hu L", "evidence": [ { "database": "RefSeq", "id": "NP_055432", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055432" } ], "reference": [ { "type": "PubMed", "id": "35513103", "url": "https://glygen.org/publication/PubMed/35513103" } ] }, { "title": "Gamma-crystallins of the human eye lens: expression analysis of five members of the gene family.", "journal": "Mol. 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