{ "uniprot_canonical_ac": "P02489-1", "uniprot_ac": "P02489", "uniprot_id": "CRYAA_HUMAN", "mass": { "chemical_mass": 19909.0, "monoisotopic_mass": 19909.0 }, "refseq": { "ac": "NP_000385", "name": "alpha-crystallin A chain isoform 1", "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. Defects in this gene cause autosomal dominant congenital cataract (ADCC). [provided by RefSeq, Jan 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000385" }, "gene_names": [ { "name": "CRYAA", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P02489", "id": "P02489" }, { "name": "CRYA1; CTRCT9; HSPB4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000385", "id": "NP_000385" }, { "name": "CRYA1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P02489", "id": "P02489" }, { "name": "CRYAA", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000385", "id": "NP_000385" }, { "name": "HSPB4", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P02489", "id": "P02489" } ], "protein_names": [ { "name": "Alpha-crystallin A chain", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P02489" }, { "name": "Heat shock protein beta-4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02489" }, { "name": "HspB4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02489" }, { "name": "alpha-crystallin A chain isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000385", "id": "NP_000385" }, { "name": "crystallin, alpha-1; human alphaA-crystallin (CRYA1); heat shock protein beta-4; alpha-crystallin A chain", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000385", "id": "NP_000385" } ], "function": [ { "annotation": "Alpha A crystallin is a moonlighting protein that functions as a heat shock protein as well as a lens crystallin.", "evidence": [ { "database": "RefSeq", "id": "NP_000385", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000385" }, { "database": "PubMed", "id": "894324", "url": "https://glygen.org/publication/PubMed/894324" } ] }, { "annotation": "Association between single nucleotide polymorphisms in exon 3 of the alpha-A-crystallin gene and susceptibility to age-related cataract.", "evidence": [ { "database": "RefSeq", "id": "NP_000385", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000385" }, { "database": "PubMed", "id": "36380611", "url": "https://glygen.org/publication/PubMed/36380611" } ] }, { "annotation": "Contributes to the transparency and refractive index of the lens (PubMed:18302245). In its oxidized form (absence of intramolecular disulfide bond), acts as a chaperone, preventing aggregation of various proteins under a wide range of stress conditions (PubMed:22120592, PubMed:31792453, PubMed:18199971, PubMed:19595763). Required for the correct formation of lens intermediate filaments as part of a complex composed of BFSP1, BFSP2 and CRYAA (PubMed:28935373).", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489#function" }, { "database": "PubMed", "id": "22120592", "url": "https://glygen.org/publication/PubMed/22120592" }, { "database": "PubMed", "id": "31792453", "url": "https://glygen.org/publication/PubMed/31792453" }, { "database": "PubMed", "id": "28935373", "url": "https://glygen.org/publication/PubMed/28935373" }, { "database": "PubMed", "id": "18302245", "url": "https://glygen.org/publication/PubMed/18302245" }, { "database": "PubMed", "id": "18199971", "url": "https://glygen.org/publication/PubMed/18199971" }, { "database": "PubMed", "id": "19595763", "url": "https://glygen.org/publication/PubMed/19595763" } ] }, { "annotation": "Expression of alphaA-crystallin (CRYAA) in vivo and in vitro models of age-related cataract and the effect of its silencing on HLEB3 cells.", "evidence": [ { "database": "RefSeq", "id": "NP_000385", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000385" }, { "database": "PubMed", "id": "37253645", "url": "https://glygen.org/publication/PubMed/37253645" } ] }, { "annotation": "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].", "evidence": [ { "database": "RefSeq", "id": "NP_000385", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000385" } ] }, { "annotation": "Mutational analysis of CRYAA gene of cataract and investigating risk assessment factors responsible for eye diseases in district buner, KPK, Pakistan. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000385", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000385" }, { "database": "PubMed", "id": "37807341", "url": "https://glygen.org/publication/PubMed/37807341" } ] }, { "annotation": "Racemization in cataractous lens from diabetic and aging individuals: analysis of Asp 58 residue in alphaA-crystallin.", "evidence": [ { "database": "RefSeq", "id": "NP_000385", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000385" }, { "database": "PubMed", "id": "34096886", "url": "https://glygen.org/publication/PubMed/34096886" } ] }, { "annotation": "Structural and functional analysis of SNP rs76740365 G>A in exon-3 of the alpha A-crystallin gene in lens epithelial cells. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000385", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000385" }, { "database": "PubMed", "id": "36338667", "url": "https://glygen.org/publication/PubMed/36338667" } ] } ], "disease": [ { "disease_id": "DOID:0110266", "recommended_name": { "id": "DOID:0110266", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110266", "name": "cataract 9 multiple types", "description": "A cataract that has_material_basis_in autosomal recessive or autosomal dominant inheritance of heterozygous or homozygous mutation in the CRYAA gene, which encodes alpha-A-crystallin, on chromosome 21q22." }, "synonyms": [ { "id": "DOID:0110266", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110266", "name": "cataract 9 multiple types with or without microcornea", "description": "" }, { "id": "DOID:0110266", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110266", "name": "CTRCT9", "description": "" }, { "id": "MONDO:0011413", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011413", "name": "cataract 9 multiple types", "description": "Any cataract (disease) in which the cause of the disease is a mutation in the CRYAA gene." }, { "id": "MONDO:0011413", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011413", "name": "CRYAA cataract (disease)", "description": "" }, { "id": "MONDO:0011413", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011413", "name": "CTRCT9", "description": "" }, { "id": "MONDO:0011413", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011413", "name": "cataract (disease) caused by mutation in CRYAA", "description": "" }, { "id": "MONDO:0011413", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011413", "name": "cataract 9 multiple types with or without microcornea", "description": "" }, { "id": "MONDO:0011413", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011413", "name": "CATC1", "description": "" }, { "id": "MONDO:0011413", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011413", "name": "autosomal recessive congenital cataract 1", "description": "" }, { "id": "MONDO:0011413", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011413", "name": "cataract 9, multiple types", "description": "" }, { "id": "MONDO:0011413", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011413", "name": "cataract 9, multiple types, with or without microcornea", "description": "" }, { "id": "MONDO:0011413", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011413", "name": "cataract, autosomal dominant", "description": "" }, { "id": "MONDO:0011413", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011413", "name": "cataract, autosomal recessive congenital 1", "description": "" }, { "id": "MIM:604219", "resource": "MIM", "url": "https://www.omim.org/entry/604219", "name": "Cataract 9, multiple types", "description": "Cataract 9, multiple types" } ], "evidence": [ { "id": "604219", "database": "MIM", "url": "https://www.omim.org/entry/604219" } ] } ], "snv": [ { "evidence": [ { "id": "P02489", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P02489" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 109, "end_pos": 109, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (YIS->NIS).", "chr_id": "21", "chr_pos": "43172083", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "Y109", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs781501501", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781501501" }, { "id": "rs781501501", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781501501" }, { "id": "rs781501501", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781501501" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 162, "end_pos": 162, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->L).", "chr_id": "21", "chr_pos": "43172243", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S162", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 123, "end_pos": 123, "sequence_org": "N", "sequence_mut": "D", "comment": "Impairs chaperone activity.", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" }, { "database": "PubMed", "id": "18754677", "url": "https://glygen.org/publication/PubMed/18754677" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "89.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000160202", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160202" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "16.41", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000160202", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160202" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "17.43", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000160202", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160202" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "24.74", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000160202", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160202" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "16.34", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000160202", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160202" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "18.75", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000160202", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160202" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "69.93", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000160202", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160202" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "24.58", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000160202", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160202" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "24.13", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000160202", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160202" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P02489", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02489" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": 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"url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": 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"url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": 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modifications of the human water-insoluble lens crystallins are disulfide bonds, deamidation, methionine oxidation and backbone cleavage.", "journal": "Experimental eye research", "date": "2000", "authors": "Hanson SR, Hasan A, Smith DL, Smith JB", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" } ], "reference": [ { "type": "PubMed", "id": "10930324", "url": "https://glygen.org/publication/PubMed/10930324" } ] }, { "title": "A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family.", "journal": "Investigative ophthalmology & visual science", "date": "2000", "authors": "Pras E, Frydman M, Levy-Nissenbaum E, Bakhan T, Raz J, Assia EI, Goldman B, Pras E", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" } ], "reference": [ { "type": "PubMed", "id": "11006246", "url": "https://glygen.org/publication/PubMed/11006246" } ] }, { "title": "Structural and functional changes in the alpha A-crystallin R116C mutant in hereditary cataracts.", "journal": "Biochemistry", "date": "2000", "authors": "Cobb BA, Petrash JM", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" } ], "reference": [ { "type": "PubMed", "id": "11123904", "url": "https://glygen.org/publication/PubMed/11123904" } ] }, { "title": "Shotgun identification of protein modifications from protein complexes and lens tissue.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "MacCoss MJ, McDonald WH, Saraf A, Sadygov R, Clark JM, Tasto JJ, Gould KL, Wolters D, Washburn M, Weiss A, Clark JI, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "P02489", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02489" } ], "reference": [ { "type": "PubMed", "id": "12060738", "url": "https://glygen.org/publication/PubMed/12060738" } ] }, { "title": "Enhanced C-terminal truncation of alphaA- and alphaB-crystallins in diabetic lenses.", "journal": "Investigative ophthalmology & visual science", "date": "2002", "authors": "Thampi P, Hassan A, Smith JB, Abraham EC", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" } ], "reference": [ { "type": "PubMed", "id": "12356833", "url": "https://glygen.org/publication/PubMed/12356833" } ] }, { "title": "Chaperone-like activity of alpha-crystallin and other small heat shock proteins.", "journal": "Curr. Protein Pept. Sci.", "date": "2001", "authors": "Ganea E", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" } ], "reference": [ { "type": "PubMed", "id": "12369933", "url": "https://glygen.org/publication/PubMed/12369933" } ] }, { "title": "Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q.", "journal": "European journal of human genetics : EJHG", "date": "2003", "authors": "Mackay DS, Andley UP, Shiels A", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" } ], "reference": [ { "type": "PubMed", "id": "14512969", "url": "https://glygen.org/publication/PubMed/14512969" } ] }, { "title": "Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P.", "journal": "Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie", "date": "2006", "authors": "Graw J, Klopp N, Illig T, Preising MN, Lorenz B", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" } ], "reference": [ { "type": "PubMed", "id": "16453125", "url": "https://glygen.org/publication/PubMed/16453125" } ] }, { "title": "A novel fan-shaped cataract-microcornea syndrome caused by a mutation of CRYAA in an Indian family.", "journal": "Molecular vision", "date": "2006", "authors": "Vanita V, Singh JR, Hejtmancik JF, Nuernberg P, Hennies HC, Singh D, Sperling K", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" } ], "reference": [ { "type": "PubMed", "id": "16735993", "url": "https://glygen.org/publication/PubMed/16735993" } ] }, { "title": "Identification of a novel, putative cataract-causing allele in CRYAA (G98R) in an Indian family.", "journal": "Molecular vision", "date": "2006", "authors": "Santhiya ST, Soker T, Klopp N, Illig T, Prakash MV, Selvaraj B, Gopinath PM, Graw J", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" } ], "reference": [ { "type": "PubMed", "id": "16862070", "url": "https://glygen.org/publication/PubMed/16862070" } ] }, { "title": "The consensus coding sequences of human breast and colorectal cancers.", "journal": "Science (New York, N.Y.)", "date": "2006", "authors": "Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" } ], "reference": [ { "type": "PubMed", "id": "16959974", "url": "https://glygen.org/publication/PubMed/16959974" } ] }, { "title": "New phenotype associated with an Arg116Cys mutation in the CRYAA gene: nuclear cataract, iris coloboma, and microphthalmia.", "journal": "Archives of ophthalmology (Chicago, Ill. : 1960)", "date": "2007", "authors": "Beby F, Commeaux C, Bozon M, Denis P, Edery P, Morle L", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" } ], "reference": [ { "type": "PubMed", "id": "17296897", "url": "https://glygen.org/publication/PubMed/17296897" } ] }, { "title": "Vertebrate lens alpha-crystallins are modified by O-linked N-acetylglucosamine.", "journal": "J. Biol. Chem.", "date": "1992", "authors": "Roquemore EP, Dell A, Morris HR, Panico M, Reason AJ, Savoy LA, Wistow GJ, Zigler JS Jr, Earles BJ, Hart GW", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" }, { "database": "O-GlcNAc Database", "id": "P02489", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02489" }, { "database": "GlyConnect", "id": "33", "url": "https://glyconnect.expasy.org/browser/proteins/33" } ], "reference": [ { "type": "PubMed", "id": "1730617", "url": "https://glygen.org/publication/PubMed/1730617" } ] }, { "title": "Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.", "journal": "Investigative ophthalmology & visual science", "date": "2007", "authors": "Hansen L, Yao W, Eiberg H, Kjaer KW, Baggesen K, Hejtmancik JF, Rosenberg T", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" } ], "reference": [ { "type": "PubMed", "id": "17724170", "url": "https://glygen.org/publication/PubMed/17724170" } ] }, { "title": "C-Terminal truncation affects subunit exchange of human alphaA-crystallin with alphaB-crystallin.", "journal": "Mol. Cell. Biochem.", "date": "2008", "authors": "Kallur Latha S, Aziz Atya, Abraham Edathara C", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" } ], "reference": [ { "type": "PubMed", "id": "17909943", "url": "https://glygen.org/publication/PubMed/17909943" } ] }, { "title": "Recessive congenital total cataract with microcornea and heterozygote carrier signs caused by a novel missense CRYAA mutation (R54C).", "journal": "American journal of ophthalmology", "date": "2007", "authors": "Khan AO, Aldahmesh MA, Meyer B", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" } ], "reference": [ { "type": "PubMed", "id": "17937925", "url": "https://glygen.org/publication/PubMed/17937925" } ] }, { "title": "Cataract-causing alphaAG98R mutant shows substrate-dependent chaperone activity.", "journal": "Molecular vision", "date": "2007", "authors": "Murugesan R, Santhoshkumar P, Sharma KK", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" } ], "reference": [ { "type": "PubMed", "id": "18199971", "url": "https://glygen.org/publication/PubMed/18199971" } ] }, { "title": "Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA).", "journal": "American journal of medical genetics. Part A", "date": "2008", "authors": "Richter L, Flodman P, Barria von-Bischhoffshausen F, Burch D, Brown S, Nguyen L, Turner J, Spence MA, Bateman JB", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" } ], "reference": [ { "type": "PubMed", "id": "18302245", "url": "https://glygen.org/publication/PubMed/18302245" } ] }, { "title": "A novel mutation in AlphaA-crystallin (CRYAA) caused autosomal dominant congenital cataract in a large Chinese family.", "journal": "Human mutation", "date": "2008", "authors": "Gu F, Luo W, Li X, Wang Z, Lu S, Zhang M, Zhao B, Zhu S, Feng S, Yan YB, Huang S, Ma X", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" } ], "reference": [ { "type": "PubMed", "id": "18407550", "url": "https://glygen.org/publication/PubMed/18407550" } ] }, { "title": "Crystallin gene mutations in Indian families with inherited pediatric cataract.", "journal": "Molecular vision", "date": "2008", "authors": "Devi RR, Yao W, Vijayalakshmi P, Sergeev YV, Sundaresan P, Hejtmancik JF", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" } ], "reference": [ { "type": "PubMed", "id": "18587492", "url": "https://glygen.org/publication/PubMed/18587492" } ] }, { "title": "Structural and functional roles of deamidation and/or truncation of N- or C-termini in human alpha A-crystallin.", "journal": "Biochemistry", "date": "2008", "authors": "Chaves JM, Srivastava K, Gupta R, Srivastava OP", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" } ], "reference": [ { "type": "PubMed", "id": "18754677", "url": "https://glygen.org/publication/PubMed/18754677" } ] }, { "title": "Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract.", "journal": "Investigative ophthalmology & visual science", "date": "2009", "authors": "Hansen L, Mikkelsen A, Nurnberg P, Nurnberg G, Anjum I, Eiberg H, Rosenberg T", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" } ], "reference": [ { "type": "PubMed", "id": "19182255", "url": "https://glygen.org/publication/PubMed/19182255" } ] }, { "title": "Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families.", "journal": "Molecular vision", "date": "2009", "authors": "Santana A, Waiswol M, Arcieri ES, Cabral de Vasconcellos JP, Barbosa de Melo M", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" } ], "reference": [ { "type": "PubMed", "id": "19390652", "url": "https://glygen.org/publication/PubMed/19390652" } ] }, { "title": "HSPB7 is a SC35 speckle resident small heat shock protein.", "journal": "Biochim. 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Acta", "date": "2009", "authors": "Vos MJ, Kanon B, Kampinga HH", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" } ], "reference": [ { "type": "PubMed", "id": "19464326", "url": "https://glygen.org/publication/PubMed/19464326" } ] }, { "title": "An alphaA-crystallin gene mutation, Arg12Cys, causing inherited cataract-microcornea exhibits an altered heat-shock response.", "journal": "Molecular vision", "date": "2009", "authors": "Zhang LY, Yam GH, Tam PO, Lai RY, Lam DS, Pang CP, Fan DS", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" } ], "reference": [ { "type": "PubMed", "id": "19503744", "url": "https://glygen.org/publication/PubMed/19503744" } ] }, { "title": "A novel mutation (F71L) in alphaA-crystallin with defective chaperone-like function associated with age-related cataract.", "journal": "Biochimica et biophysica acta", "date": "2009", "authors": "Bhagyalaxmi SG, Srinivas P, Barton KA, Kumar KR, Vidyavathi M, Petrash JM, Bhanuprakash Reddy G, Padma T", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" } ], "reference": [ { "type": "PubMed", "id": "19595763", "url": "https://glygen.org/publication/PubMed/19595763" } ] }, { "title": "Autosomal dominant congenital nuclear cataracts caused by a CRYAA gene mutation.", "journal": "Current eye research", "date": "2010", "authors": "Li FF, Yang M, Ma X, Zhang Q, Zhang M, Wang SZ, Zhu SQ", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" } ], "reference": [ { "type": "PubMed", "id": "20465443", "url": "https://glygen.org/publication/PubMed/20465443" } ] }, { "title": "Importance of eye lens alpha-crystallin heteropolymer with 3:1 alphaA to alphaB ratio: stability, aggregation, and modifications.", "journal": "IUBMB Life", "date": "2010", "authors": "Srinivas Pasumarthi, Narahari Akkaladevi, Petrash J Mark, Swamy Musti J, Reddy Geereddy Bhanuprakash", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" } ], "reference": [ { "type": "PubMed", "id": "20836128", "url": "https://glygen.org/publication/PubMed/20836128" } ] }, { "title": "Mutational screening of six genes in Chinese patients with congenital cataract and microcornea.", "journal": "Molecular vision", "date": "2011", "authors": "Sun W, Xiao X, Li S, Guo X, Zhang Q", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" } ], "reference": [ { "type": "PubMed", "id": "21686328", "url": "https://glygen.org/publication/PubMed/21686328" } ] }, { "title": "Mutation analysis of 12 genes in Chinese families with congenital cataracts.", "journal": "Molecular vision", "date": "2011", "authors": "Sun W, Xiao X, Li S, Guo X, Zhang Q", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" } ], "reference": [ { "type": "PubMed", "id": "21866213", "url": "https://glygen.org/publication/PubMed/21866213" } ] }, { "title": "Congenital anterior polar cataract associated with a missense mutation in the human alpha crystallin gene CRYAA.", "journal": "Molecular vision", "date": "2011", "authors": "Zhang L, Zhang Y, Liu P, Cao W, Tang X, Su S", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" } ], "reference": [ { "type": "PubMed", "id": "22065922", "url": "https://glygen.org/publication/PubMed/22065922" } ] }, { "title": "Acetylation of alphaA-crystallin in the human lens: effects on structure and chaperone function.", "journal": "Biochimica et biophysica acta", "date": "2012", "authors": "Nagaraj RH, Nahomi RB, Shanthakumar S, Linetsky M, Padmanabha S, Pasupuleti N, Wang B, Santhoshkumar P, Panda AK, Biswas A", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" } ], "reference": [ { "type": "PubMed", "id": "22120592", "url": "https://glygen.org/publication/PubMed/22120592" } ] }, { "title": "Identification of the p. R116H mutation in a Chinese family with novel variable cataract phenotype: evidence for a mutational hot spot in alphaA-crystallin gene.", "journal": "Ophthalmic genetics", "date": "2012", "authors": "Wang B, Wang KJ, Zhu SQ, Wang J, Ma X", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" } ], "reference": [ { "type": "PubMed", "id": "22216983", "url": "https://glygen.org/publication/PubMed/22216983" } ] }, { "title": "Identification of histidine residues involved in Zn(2+) binding to alphaA- and alphaB-Crystallin by chemical modification and MALDI TOF mass spectrometry.", "journal": "Protein J.", "date": "2012", "authors": "Karmakar S, Das KP", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" } ], "reference": [ { "type": "PubMed", "id": "22890888", "url": "https://glygen.org/publication/PubMed/22890888" } ] }, { "title": "Identification of a novel oligomerization disrupting 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"Kaiser CJO, Peters C, Schmid PWN, Stavropoulou M, Zou J, Dahiya V, Mymrikov EV, Rockel B, Asami S, Haslbeck M, Rappsilber J, Reif B, Zacharias M, Buchner J, Weinkauf S", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" } ], "reference": [ { "type": "PubMed", "id": "31792453", "url": "https://glygen.org/publication/PubMed/31792453" } ] }, { "title": "Clinical characteristics of congenital lamellar cataract and myopia in a Chinese family.", "journal": "Bioscience reports", "date": "2020", "authors": "Liu Q, Zhu S", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" } ], "reference": [ { "type": "PubMed", "id": "32010934", "url": "https://glygen.org/publication/PubMed/32010934" } ] }, { "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 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"database": "RefSeq", "id": "NP_000385", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000385" } ], "reference": [ { "type": "PubMed", "id": "36338667", "url": "https://glygen.org/publication/PubMed/36338667" } ] }, { "title": "Association between single nucleotide polymorphisms in exon 3 of the alpha-A-crystallin gene and susceptibility to age-related cataract.", "journal": "Ophthalmic genetics", "date": "2023-04", "authors": "Zhao Zhennan, Chen Jiahui, Yuan Wenyi, Jiang Yongxiang, Lu Yi", "evidence": [ { "database": "RefSeq", "id": "NP_000385", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000385" } ], "reference": [ { "type": "PubMed", "id": "36380611", "url": "https://glygen.org/publication/PubMed/36380611" } ] }, { "title": "Expression of \u03b1A-crystallin (CRYAA) in vivo and in vitro models of age-related cataract and the effect of its silencing on HLEB3 cells.", "journal": "Aging", "date": "2023-05-28", "authors": "Ma Xiaoling, Nan Yi, Huang Can, Li Xiangyang, Yang Yifan, Jiang Wenjie, Ye Mengyi, Liu Qian, Niu Yang, Yuan Ling", "evidence": [ { "database": "RefSeq", "id": "NP_000385", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000385" } ], "reference": [ { "type": "PubMed", "id": "37253645", "url": "https://glygen.org/publication/PubMed/37253645" } ] }, { "title": "Isolation and partial characterization of the human alpha A-crystallin gene.", "journal": "Exp. 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Biol. Chem.", "date": "1996", "authors": "Andley UP, Mathur S, Griest TA, Petrash JM", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" } ], "reference": [ { "type": "PubMed", "id": "8943244", "url": "https://glygen.org/publication/PubMed/8943244" } ] }, { "title": "Sequence analysis of betaA3, betaB3, and betaA4 crystallins completes the identification of the major proteins in young human lens.", "journal": "J. Biol. Chem.", "date": "1997", "authors": "Lampi KJ, Ma Z, Shih M, Shearer TR, Smith JB, Smith DL, David LL", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" } ], "reference": [ { "type": "PubMed", "id": "8999933", "url": "https://glygen.org/publication/PubMed/8999933" } ] }, { "title": "Modifications of the water-insoluble human lens alpha-crystallins.", "journal": "Experimental eye research", "date": "1996", "authors": "Lund AL, Smith JB, Smith DL", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" }, { "database": "iPTMnet", "id": "P02489", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02489" } ], "reference": [ { "type": "PubMed", "id": "9068373", "url": "https://glygen.org/publication/PubMed/9068373" } ] }, { "title": "Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA.", "journal": "Human molecular genetics", "date": "1998", "authors": "Litt M, Kramer P, LaMorticella DM, Murphey W, Lovrien EW, Weleber RG", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" } ], "reference": [ { "type": "PubMed", "id": "9467006", "url": "https://glygen.org/publication/PubMed/9467006" } ] }, { "title": "Quantitation of asparagine-101 deamidation from alpha-A crystallin during aging of the human lens.", "journal": "Current eye research", "date": "1998", "authors": "Takemoto LJ", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" } ], "reference": [ { "type": "PubMed", "id": "9543632", "url": "https://glygen.org/publication/PubMed/9543632" } ] }, { "title": "In vivo acetylation identified at lysine 70 of human lens alphaA-crystallin.", "journal": "Protein science : a publication of the Protein Society", "date": "1998", "authors": "Lin PP, Barry RC, Smith DL, Smith JB", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" } ], "reference": [ { "type": "PubMed", "id": "9655350", "url": "https://glygen.org/publication/PubMed/9655350" } ] } ], "pathway": [ { "id": "hsa:102724652", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:102724652", "resource": "KEGG Pathway" }, { "id": "hsa:1409", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1409", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "P02475-1", "protein_name": "Alpha-crystallin A chain", "gene_name": "CRYAA", "tax_id": 9823, "organism": "Sus scrofa", "sequence": { "sequence": "MDIAIQHPWFKRALGPFYPSRLFDQFFGEGLFEYDLLPFLSSTISPYYRQSLFRTVLDSGVSEVRSDRDKFVIFLDVKHFSPEDLTVKVQEDFVEIHGKHNERQDDHGYISREFHRRYRLPSNVDQSALSCSLSADGMLTFSGPKVPSGVDAGHSERAIPVSREEKPSSAPTS", "length": 173 }, "evidence": [ { "id": "P02489", "url": "https://omabrowser.org/oma/group/P02489/", "database": "OMA" } ], "common_name": "Pig" }, { "uniprot_canonical_ac": "P24622-1", "protein_name": "Alpha-crystallin A chain", "gene_name": "Cryaa", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MDVTIQHPWFKRALGPFYPSRLFDQFFGEGLFEYDLLPFLSSTISPYYRQSLFRTVLDSGISELMTHMWFVMHQPHAGNPKNNPVKVRSDRDKFVIFLDVKHFSPEDLTVKVLEDFVEIHGKHNERQDDHGYISREFHRRYRLPSNVDQSALSCSLSADGMLTFSGPKVQSGLDAGHSERAIPVSREEKPSSAPSS", "length": 196 }, "evidence": [ { "id": "45916823", "url": "http://www.informatics.jax.org/homology/45916823", "database": "MGI" }, { "id": "P02489", "url": "https://omabrowser.org/oma/group/P02489/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "P24623-1", "protein_name": "Alpha-crystallin A chain", "gene_name": "Cryaa", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0002088", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0051082", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" } ], "pmid": "" }, { "name": "structural molecule activity", "id": "GO:0005198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005198", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" } ], "pmid": "" }, { "name": "structural constituent of eye lens", "id": "GO:0005212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005212", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [ { "annotation": "Acetylation at Lys-70 may increase chaperone activity.", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" }, { "database": "PubMed", "id": "9655350", "url": "https://glygen.org/publication/PubMed/9655350" }, { "database": "PubMed", "id": "817940", "url": "https://glygen.org/publication/PubMed/817940" }, { "database": "PubMed", "id": "22120592", "url": "https://glygen.org/publication/PubMed/22120592" } ] }, { "annotation": "Deamidation of Asn-101 in lens occurs mostly during the first 30 years of age, followed by a small additional amount of deamidation (approximately 5%) during the next approximately 38 years, resulting in a maximum of approximately 50% deamidation during the lifetime of the individual.", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" }, { "database": "PubMed", "id": "9068373", "url": "https://glygen.org/publication/PubMed/9068373" }, { "database": "PubMed", "id": "9543632", "url": "https://glygen.org/publication/PubMed/9543632" }, { "database": "PubMed", "id": "9655350", "url": "https://glygen.org/publication/PubMed/9655350" }, { "database": "PubMed", "id": 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With aging, the amount of oxidized form increases up to 90% and it becomes a major constituent of high molecular weight aggregates, concomitant with an age-dependent loss of its chaperone activity. The reduced form is undetectable in cataractous lenses.", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" }, { "database": "PubMed", "id": "31792453", "url": "https://glygen.org/publication/PubMed/31792453" } ] }, { "annotation": "Phosphorylation on Ser-122 seems to be developmentally regulated. Absent in the first months of life, it appears during the first 12 years of human lifetime. The relative amount of phosphorylated form versus unphosphorylated form does not change over the lifetime of the individual.", "evidence": [ { "database": "UniProtKB", "id": "P02489", "url": "https://www.uniprot.org/uniprot/P02489" }, { "database": "PubMed", "id": "10930324", "url": "https://glygen.org/publication/PubMed/10930324" }, { "database": "PubMed", "id": "9068373", "url": "https://glygen.org/publication/PubMed/9068373" }, { "database": "PubMed", "id": "9655350", "url": "https://glygen.org/publication/PubMed/9655350" }, { "database": "PubMed", "id": "8759518", "url": "https://glygen.org/publication/PubMed/8759518" }, { "database": "PubMed", "id": "8175657", "url": "https://glygen.org/publication/PubMed/8175657" } ] }, { "annotation": "Undergoes age-dependent proteolytical cleavage at the C-terminus. 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