{ "uniprot_canonical_ac": "P02511-1", "uniprot_ac": "P02511", "uniprot_id": "CRYAB_HUMAN", "mass": { "chemical_mass": 20159.0, "monoisotopic_mass": 20159.0 }, "refseq": { "ac": "NP_001276736", "name": "alpha-crystallin B 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. 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 2019].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276736" }, "gene_names": [ { "name": "CRYAB", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P02511", "id": "P02511" }, { "name": "CMD1II; CRYA2; CTPP2; CTRCT16; HEL-S-101; HSPB5; MFM2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276736", "id": "NP_001276736" }, { "name": "CRYA2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P02511", "id": "P02511" }, { "name": "CRYAB", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276736", "id": "NP_001276736" }, { "name": "HSPB5", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P02511", "id": "P02511" }, { "name": "hCG_1730741", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P02511", "id": "P02511" } ], "protein_names": [ { "name": "Alpha-crystallin B chain", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P02511" }, { "name": "Alpha(B)-crystallin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02511" }, { "name": "Heat shock protein beta-5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02511" }, { "name": "HspB5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02511" }, { "name": "Renal carcinoma antigen NY-REN-27", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02511" }, { "name": "Rosenthal fiber component", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02511" }, { "name": "alpha-crystallin B chain isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276736", "id": "NP_001276736" }, { "name": "heat-shock 20 kD like-protein; alpha-crystallin B chain; heat shock protein beta-5; rosenthal fiber component; renal carcinoma antigen NY-REN-27; epididymis secretory protein Li 101", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276736", "id": "NP_001276736" } ], "function": [ { "annotation": "Alpha crystallin is a moonlighting protein that functions as a heat shock protein as well as a lens crystallin. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001276736", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276736" }, { "database": "PubMed", "id": "10217480", "url": "https://glygen.org/publication/PubMed/10217480" } ] }, { "annotation": "Desmin and its molecular chaperone, the alphaB-crystallin: How post-translational modifications modulate their functions in heart and skeletal muscles? Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001276736", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276736" }, { "database": "PubMed", "id": "37827485", "url": "https://glygen.org/publication/PubMed/37827485" } ] }, { "annotation": "HspB5 Chaperone Structure and Activity Are Modulated by Chemical-Scale Interactions in the ACD Dimer Interface. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001276736", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276736" }, { "database": "PubMed", "id": "38203641", "url": "https://glygen.org/publication/PubMed/38203641" } ] }, { "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. 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 2019].", "evidence": [ { "database": "RefSeq", "id": "NP_001276736", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276736" } ] }, { "annotation": "Mature human induced pluripotent stem cell-derived cardiomyocytes promote angiogenesis through alpha-B crystallin. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001276736", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276736" }, { "database": "PubMed", "id": "37679796", "url": "https://glygen.org/publication/PubMed/37679796" } ] }, { "annotation": "May contribute to the transparency and refractive index of the lens. Has chaperone-like activity, preventing aggregation of various proteins under a wide range of stress conditions. In lens epithelial cells, stabilizes the ATP6V1A protein, preventing its degradation by the proteasome (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P02511", "url": "https://www.uniprot.org/uniprot/P02511#function" }, { "database": "UniProtKB", "id": "P23927", "url": "https://www.uniprot.org/uniprot/P23927#function" } ] }, { "annotation": "Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot-Marie-Tooth disease with congenital cataracts.", "evidence": [ { "database": "RefSeq", "id": "NP_001276736", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276736" }, { "database": "PubMed", "id": "37772343", "url": "https://glygen.org/publication/PubMed/37772343" } ] } ], "disease": [ { "disease_id": "DOID:0080093", "recommended_name": { "id": "DOID:0080093", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080093", "name": "myofibrillar myopathy 2", "description": "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the alpha-B-crystallin gene on chromosome 11q23." }, "synonyms": [ { "id": "DOID:0080093", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080093", "name": "alpha-b crystallinopathy", "description": "" }, { "id": "MONDO:0012130", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012130", "name": "myofibrillar myopathy 2", "description": "Any autosomal dominant distal myopathy in which the cause of the disease is a mutation in the CRYAB gene." }, { "id": "MONDO:0012130", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012130", "name": "CRYAB autosomal dominant distal myopathy", "description": "" }, { "id": "MONDO:0012130", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012130", "name": "alpha-B crystallinopathy", "description": "" }, { "id": "MONDO:0012130", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012130", "name": "autosomal dominant distal myopathy caused by mutation in CRYAB", "description": "" }, { "id": "MONDO:0012130", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012130", "name": "late-onset distal crystallinopathy", "description": "" }, { "id": "MONDO:0012130", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012130", "name": "myofibrillar myopathy type 2", "description": "" }, { "id": "MONDO:0012130", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012130", "name": "myopathy, myofibrillar, type 2", "description": "" }, { "id": "MONDO:0012130", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012130", "name": "MFM2", "description": "" }, { "id": "MONDO:0012130", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012130", "name": "alpha-B crystallin-related late-onset distal myopathy", "description": "" }, { "id": "MONDO:0012130", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012130", "name": "myopathy, desmin-related, associated with mutation in the Cryab Gene", "description": "" }, { "id": "MONDO:0012130", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012130", "name": "myopathy, myofibrillar, 2", "description": "" }, { "id": "MONDO:0012130", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012130", "name": "myopathy, myofibrillar, alpha-B crystallin-related", "description": "" }, { "id": "MONDO:0012130", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012130", "name": "myopathy, myofibrillar, with or without cataract and/or cardiomyopathy", "description": "" }, { "id": "MIM:608810", "resource": "MIM", "url": "https://www.omim.org/entry/608810", "name": "Myopathy, myofibrillar, 2", "description": "Myopathy, myofibrillar, 2" } ], "evidence": [ { "id": "608810", "database": "MIM", "url": "https://www.omim.org/entry/608810" } ] }, { "disease_id": "DOID:0080309", "recommended_name": { "id": "DOID:0080309", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080309", "name": "fatal infantile hypertonic myofibrillar myopathy", "description": "A myofibrillar myopathy that has_material_basis_in homozygous mutation in the CRYAB gene on chromosome 11q23." }, "synonyms": [ { "id": "MONDO:0013472", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013472", "name": "fatal infantile hypertonic myofibrillar myopathy", "description": "" }, { "id": "MONDO:0013472", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013472", "name": "alpha-B crystalin-related fatal infantile hypertonic myofibrillar myopathy", "description": "" }, { "id": "MONDO:0013472", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013472", "name": "fatal infantile hypertonic myofibrillar myopathy", "description": "" }, { "id": "MONDO:0013472", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013472", "name": "MFM, fatal infantile hypertonic, alpha-B crystallin-related", "description": "" }, { "id": "MONDO:0013472", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013472", "name": "myofibrillar myopathy type 7", "description": "" }, { "id": "MONDO:0013472", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013472", "name": "myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related", "description": "" }, { "id": "MIM:613869", "resource": "MIM", "url": "https://www.omim.org/entry/613869", "name": "Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related", "description": "Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related" } ], "evidence": [ { "id": "613869", "database": "MIM", "url": "https://www.omim.org/entry/613869" } ] }, { "disease_id": "DOID:0110250", "recommended_name": { "id": "DOID:0110250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110250", "name": "cataract 16 multiple types", "description": "A cataract that has_material_basis_in heterozygous or homozygous mutation in the CRYAB gene on chromosome 11q." }, "synonyms": [ { "id": "DOID:0110250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110250", "name": "CTRCT16", "description": "" }, { "id": "MONDO:0013411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013411", "name": "cataract 16 multiple types", "description": "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYAB gene." }, { "id": "MONDO:0013411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013411", "name": "CRYAB early-onset non-syndromic cataract", "description": "" }, { "id": "MONDO:0013411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013411", "name": "CTRCT16", "description": "" }, { "id": "MONDO:0013411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013411", "name": "early-onset non-syndromic cataract caused by mutation in CRYAB", "description": "" }, { "id": "MONDO:0013411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013411", "name": "CTPP2", "description": "" }, { "id": "MONDO:0013411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013411", "name": "posterior polar cataract 2", "description": "" }, { "id": "MONDO:0013411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013411", "name": "cataract 16, multiple types", "description": "" }, { "id": "MONDO:0013411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013411", "name": "cataract, congenital lamellar", "description": "" }, { "id": "MONDO:0013411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013411", "name": "cataract, posterior polar, 2", "description": "" }, { "id": "MIM:613763", "resource": "MIM", "url": "https://www.omim.org/entry/613763", "name": "Cataract 16, multiple types", "description": "Cataract 16, multiple types" } ], "evidence": [ { "id": "613763", "database": "MIM", "url": "https://www.omim.org/entry/613763" } ] }, { "disease_id": "DOID:0110450", "recommended_name": { "id": "DOID:0110450", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110450", "name": "dilated cardiomyopathy 1II", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the CRYAB gene on chromosome 11q23." }, "synonyms": [ { "id": "DOID:0110450", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110450", "name": "CMD1II", "description": "" }, { "id": "MONDO:0014073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014073", "name": "dilated cardiomyopathy 1II", "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CRYAB gene." }, { "id": "MONDO:0014073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014073", "name": "CMD1II", "description": "" }, { "id": "MONDO:0014073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014073", "name": "CRYAB familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0014073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014073", "name": "cardiomyopathy, dilated, type 1II", "description": "" }, { "id": "MONDO:0014073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014073", "name": "dilated cardiomyopathy type 1II", "description": "" }, { "id": "MONDO:0014073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014073", "name": "familial isolated dilated cardiomyopathy caused by mutation in CRYAB", "description": "" }, { "id": "MONDO:0014073", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014073", "name": "cardiomyopathy, dilated, 1II", "description": "" }, { "id": "MIM:615184", "resource": "MIM", "url": "https://www.omim.org/entry/615184", "name": "Cardiomyopathy, dilated, 1II", "description": "Cardiomyopathy, dilated, 1II" } ], "evidence": [ { "id": "615184", "database": "MIM", "url": "https://www.omim.org/entry/615184" } ] } ], "snv": [ { "evidence": [ { "id": "rs199861008", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199861008" }, { "id": "rs199861008", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199861008" }, { "id": "rs199861008", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs199861008#frequency_tab" }, { "id": "rs199861008", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199861008" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 162, "end_pos": 162, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "11", "chr_pos": "111908807", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T162", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "99.53", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109846", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109846" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "94.9", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109846", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109846" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "94.69", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109846", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109846" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "96", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109846", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109846" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "99.46", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109846", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109846" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "95.66", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109846", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109846" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "92.58", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109846", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109846" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "94.46", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109846", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109846" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "99.32", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109846", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109846" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "90.81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109846", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109846" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "79.18", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109846", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109846" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "98.9", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109846", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109846" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "95.92", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109846", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109846" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P02511", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02511" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", 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"BioXpress", "id": "P02511", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02511" } ], "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 - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", 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J. Cancer", "date": "1999", "authors": "Scanlan MJ, Gordan JD, Williamson B, Stockert E, Bander NH, Jongeneel V, Gure AO, Jager D, Jager E, Knuth A, Chen YT, Old LJ", "evidence": [ { "database": "UniProtKB", "id": "P02511", "url": "https://www.uniprot.org/uniprot/P02511" } ], "reference": [ { "type": "PubMed", "id": "10508479", "url": "https://glygen.org/publication/PubMed/10508479" } ] }, { "title": "Identification and characterization of a novel protein from Sertoli cells, PASS1, that associates with mammalian small stress protein hsp27.", "journal": "J. Biol. Chem.", "date": "2000", "authors": "Liu C, Gilmont R R, Benndorf R, Welsh M J", "evidence": [ { "database": "UniProtKB", "id": "P02511", "url": "https://www.uniprot.org/uniprot/P02511" } ], "reference": [ { "type": "PubMed", "id": "10751411", "url": "https://glygen.org/publication/PubMed/10751411" } ] }, { "title": "The major in vivo modifications of the human water-insoluble lens crystallins are disulfide bonds, deamidation, methionine oxidation and backbone cleavage.", "journal": "Exp. Eye Res.", "date": "2000", "authors": "Hanson SR, Hasan A, Smith DL, Smith JB", "evidence": [ { "database": "UniProtKB", "id": "P02511", "url": "https://www.uniprot.org/uniprot/P02511" } ], "reference": [ { "type": "PubMed", "id": "10930324", "url": "https://glygen.org/publication/PubMed/10930324" } ] }, { "title": "Ser-59 is the major phosphorylation site in alphaB-crystallin accumulated in the brains of patients with Alexander's disease.", "journal": "Journal of neurochemistry", "date": "2001", "authors": "Kato K, Inaguma Y, Ito H, Iida K, Iwamoto I, Kamei K, Ochi N, Ohta H, Kishikawa M", "evidence": [ { "database": "UniProtKB", "id": "P02511", "url": "https://www.uniprot.org/uniprot/P02511" }, { "database": "iPTMnet", "id": "P02511", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02511" } ], "reference": [ { "type": "PubMed", "id": "11158243", "url": "https://glygen.org/publication/PubMed/11158243" } ] }, { "title": "In vivo carbamylation and acetylation of water-soluble human lens alphaB-crystallin lysine 92.", "journal": "Protein science : a publication of the Protein Society", "date": "2001", "authors": "Lapko VN, Smith DL, Smith JB", "evidence": [ { "database": "UniProtKB", "id": "P02511", "url": "https://www.uniprot.org/uniprot/P02511" } ], "reference": [ { "type": "PubMed", "id": "11369851", "url": "https://glygen.org/publication/PubMed/11369851" } ] }, { "title": "Phosphorylation of serine 230 promotes inducible transcriptional activity of heat shock factor 1.", "journal": "The EMBO journal", "date": "2001", "authors": "Holmberg CI, Hietakangas V, Mikhailov A, Rantanen JO, Kallio M, Meinander A, Hellman J, Morrice N, MacKintosh C, Morimoto RI, Eriksson JE, Sistonen L", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371571", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371571" } ], "reference": [ { "type": "PubMed", "id": "11447121", "url": "https://glygen.org/publication/PubMed/11447121" } ] }, { "title": "AlphaB crystallin translocation and phosphorylation: signal transduction pathways and preconditioning in the isolated rat heart.", "journal": "Journal of molecular and cellular cardiology", "date": "2001", "authors": "Eaton P, Fuller W, Bell JR, Shattock MJ", "evidence": [ { "database": "iPTMnet", "id": "P02511", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02511" } ], "reference": [ { "type": "PubMed", "id": "11549345", "url": "https://glygen.org/publication/PubMed/11549345" } ] }, { "title": "Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans.", "journal": "Am. J. Hum. Genet.", "date": "2001", "authors": "Berry V, Francis P, Reddy M A, Collyer D, Vithana E, MacKay I, Dawson G, Carey A H, Moore A, Bhattacharya S S, Quinlan R A", "evidence": [ { "database": "UniProtKB", "id": "P02511", "url": "https://www.uniprot.org/uniprot/P02511" } ], "reference": [ { "type": "PubMed", "id": "11577372", "url": "https://glygen.org/publication/PubMed/11577372" } ] }, { "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": "P02511", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02511" } ], "reference": [ { "type": "PubMed", "id": "12060738", "url": "https://glygen.org/publication/PubMed/12060738" } ] }, { "title": "Alteration of protein-protein interactions of congenital cataract crystallin mutants.", "journal": "Investigative ophthalmology & visual science", "date": "2003", "authors": "Fu L, Liang JJ", "evidence": [ { "database": "UniProtKB", "id": "P02511", "url": "https://www.uniprot.org/uniprot/P02511" } ], "reference": [ { "type": "PubMed", "id": "12601044", "url": "https://glygen.org/publication/PubMed/12601044" } ] }, { "title": "Accumulation of alpha B-crystallin in brains of patients with Alexander's disease is not due to an abnormality of the 5'-flanking and coding sequence of the genomic DNA.", "journal": "Neurosci. 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"https://glygen.org/publication/PubMed/33723378" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02511", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02511" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "Mature human\u00a0induced pluripotent stem cell-derived cardiomyocytes promote angiogenesis through alpha-B crystallin.", "journal": "Stem cell research & therapy", "date": "2023-09-07", "authors": "Tanaka Yuki, Kadota Shin, Zhao Jian, Kobayashi Hideki, Okano Satomi, Izumi Masaki, Honda Yusuke, Ichimura Hajime, Shiba Naoko, Uemura Takeshi, Wada Yuko, Chuma Shinichiro, Nakada Tsutomu, 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"https://www.ncbi.nlm.nih.gov/protein/NP_001276736" } ], "reference": [ { "type": "PubMed", "id": "38203641", "url": "https://glygen.org/publication/PubMed/38203641" } ] }, { "title": "The major protein expression profile and two-dimensional protein database of human heart.", "journal": "Electrophoresis", "date": "1995", "authors": "Kovalyov L I, Shishkin S S, Efimochkin A S, Kovalyova M A, Ershova E S, Egorov T A, Musalyamov A K", "evidence": [ { "database": "UniProtKB", "id": "P02511", "url": "https://www.uniprot.org/uniprot/P02511" } ], "reference": [ { "type": "PubMed", "id": "7498159", "url": "https://glygen.org/publication/PubMed/7498159" } ] }, { "title": "Simultaneous racemization and isomerization at specific aspartic acid residues in alpha B-crystallin from the aged human lens.", "journal": "Biochimica et biophysica acta", "date": "1994", "authors": "Fujii N, Ishibashi Y, Satoh K, Fujino M, Harada K", "evidence": [ { "database": "UniProtKB", "id": "P02511", "url": "https://www.uniprot.org/uniprot/P02511" } ], "reference": [ { "type": "PubMed", "id": "8142454", "url": "https://glygen.org/publication/PubMed/8142454" } ] }, { "title": "Post-translational modifications of water-soluble human lens crystallins from young adults.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Miesbauer LR, Zhou X, Yang Z, Yang Z, Sun Y, Smith DL, Smith JB", "evidence": [ { "database": "UniProtKB", "id": "P02511", "url": "https://www.uniprot.org/uniprot/P02511" }, { "database": "iPTMnet", "id": "P02511", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02511" } ], "reference": [ { "type": "PubMed", "id": "8175657", "url": "https://glygen.org/publication/PubMed/8175657" } ] }, { "title": "The primary structure of the B2 chain of human alpha-crystallin.", "journal": "FEBS letters", "date": "1977", "authors": "Kramps JA, de Man BM, de Jong WW", "evidence": [ { "database": "UniProtKB", "id": "P02511", "url": "https://www.uniprot.org/uniprot/P02511" } ], "reference": [ { "type": "PubMed", "id": "838078", "url": "https://glygen.org/publication/PubMed/838078" } ] }, { "title": "Activation of human heat shock genes is accompanied by oligomerization, modification, and rapid translocation of heat shock transcription factor HSF1.", "journal": "Molecular and cellular biology", "date": "1993", "authors": "Baler R, Dahl G, Voellmy R", "evidence": [ { "database": "Reactome", "id": "R-HSA-3371571", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371571" } ], "reference": [ { "type": "PubMed", "id": "8455624", "url": "https://glygen.org/publication/PubMed/8455624" } ] }, { "title": "Dynamic O-GlcNAcylation of the small heat shock protein alpha B-crystallin.", "journal": "Biochemistry", "date": "1996", "authors": "Roquemore EP, Chevrier MR, Cotter RJ, Hart GW", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02511", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02511" } ], "reference": [ { "type": "PubMed", "id": "8639509", "url": "https://glygen.org/publication/PubMed/8639509" } ] }, { "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": "P02511", "url": "https://www.uniprot.org/uniprot/P02511" } ], "reference": [ { "type": "PubMed", "id": "8999933", "url": "https://glygen.org/publication/PubMed/8999933" } ] }, { "title": "A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy.", "journal": "Nature genetics", "date": "1998", "authors": "Vicart P, Caron A, Guicheney P, Li Z, Prevost MC, Faure A, Chateau D, Chapon F, Tome F, Dupret JM, Paulin D, Fardeau M", "evidence": [ { "database": "UniProtKB", "id": "P02511", "url": "https://www.uniprot.org/uniprot/P02511" } ], "reference": [ { "type": "PubMed", "id": "9731540", "url": "https://glygen.org/publication/PubMed/9731540" } ] } ], "pathway": [ { "id": "hsa:1410", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1410", "resource": "KEGG Pathway" }, { "id": "R-HSA-3371571", "name": "HSF1-dependent transactivation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3371571", "resource": "Reactome", "description": "HSF1-dependent transactivation" } ], "orthologs": [ { "uniprot_canonical_ac": "P23927-1", "protein_name": "Alpha-crystallin B chain", "gene_name": "Cryab", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MDIAIHHPWIRRPFFPFHSPSRLFDQFFGEHLLESDLFSTATSLSPFYLRPPSFLRAPSWIDTGLSEMRLEKDRFSVNLDVKHFSPEELKVKVLGDVIEVHGKHEERQDEHGFISREFHRKYRIPADVDPLTITSSLSSDGVLTVNGPRKQVSGPERTIPITREEKPAVAAAPKK", "length": 175 }, "evidence": [ { "id": "45920263", "url": "http://www.informatics.jax.org/homology/45920263", "database": "MGI" }, { "id": "P02511", "url": "https://omabrowser.org/oma/group/P02511/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "P23928-1", "protein_name": "Alpha-crystallin B chain", "gene_name": "Cryab", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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"UniProtKB", "id": "P02511", "url": "https://www.uniprot.org/uniprot/P02511" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P02511", "url": "https://www.uniprot.org/uniprot/P02511" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "P02511", "url": "https://www.uniprot.org/uniprot/P02511" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "P02511", "url": "https://www.uniprot.org/uniprot/P02511" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P02511", "url": "https://www.uniprot.org/uniprot/P02511" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "P02511", "url": "https://www.uniprot.org/uniprot/P02511" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "P02511", "url": "https://www.uniprot.org/uniprot/P02511" } ], "pmid": "" }, { "name": "M band", "id": "GO:0031430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031430", "evidence": [ { "database": "UniProtKB", "id": "P02511", "url": "https://www.uniprot.org/uniprot/P02511" } ], "pmid": "" }, { "name": "synaptic membrane", "id": "GO:0097060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097060", "evidence": [ { "database": "UniProtKB", "id": "P02511", "url": "https://www.uniprot.org/uniprot/P02511" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P02511", "url": "https://www.uniprot.org/uniprot/P02511" } ], "pmid": "" }, { "name": "actin filament bundle", "id": "GO:0032432", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032432", "evidence": [ { "database": "UniProtKB", "id": "P02511", "url": "https://www.uniprot.org/uniprot/P02511" } ], "pmid": "" }, { "name": "cardiac myofibril", "id": "GO:0097512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097512", "evidence": [ { "database": "UniProtKB", "id": "P02511", "url": "https://www.uniprot.org/uniprot/P02511" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 24, "go_terms": [ { "name": "negative regulation of intracellular transport", "id": "GO:0032387", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032387", "evidence": [ { "database": "UniProtKB", "id": "P02511", "url": "https://www.uniprot.org/uniprot/P02511" } ], "pmid": "" }, { "name": "muscle contraction", "id": "GO:0006936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006936", "evidence": [ { "database": "UniProtKB", "id": "P02511", "url": "https://www.uniprot.org/uniprot/P02511" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P02511", "url": "https://www.uniprot.org/uniprot/P02511" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P02511", "url": "https://www.uniprot.org/uniprot/P02511" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P02511", "url": "https://www.uniprot.org/uniprot/P02511" } ], "pmid": "" }, { "name": "negative regulation of DNA-templated transcription", "id": "GO:0045892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045892", "evidence": [ { "database": "UniProtKB", "id": "P02511", "url": "https://www.uniprot.org/uniprot/P02511" } ], "pmid": "" }, { "name": "response to hydrogen peroxide", "id": "GO:0042542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042542", "evidence": [ { "database": "UniProtKB", "id": "P02511", "url": "https://www.uniprot.org/uniprot/P02511" } ], "pmid": "" }, { "name": "muscle organ development", "id": "GO:0007517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007517", "evidence": [ { "database": "UniProtKB", "id": "P02511", "url": "https://www.uniprot.org/uniprot/P02511" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "P02511", "url": "https://www.uniprot.org/uniprot/P02511" } ], "pmid": "" }, { "name": "negative regulation of reactive oxygen species metabolic process", "id": 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