{ "uniprot_canonical_ac": "P0C0S5-1", "uniprot_ac": "P0C0S5", "uniprot_id": "H2AZ_HUMAN", "mass": { "chemical_mass": 13553.0, "monoisotopic_mass": 13553.0 }, "refseq": { "ac": "NP_002097", "name": "histone H2A.Z", "summary": "Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent member of the histone H2A family that is distinct from other members of the family. Studies in mice have shown that this particular histone is required for embryonic development and indicate that lack of functional histone H2A leads to embryonic lethality. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002097" }, "gene_names": [ { "name": "H2AZ1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P0C0S5", "id": "P0C0S5" }, { "name": "H2A.z; H2A.Z-1; H2A/z; H2AFZ; H2AZ", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002097", "id": "NP_002097" }, { "name": "H2AFZ", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P0C0S5", "id": "P0C0S5" }, { "name": "H2AZ1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002097", "id": "NP_002097" }, { "name": "H2AZ", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P0C0S5", "id": "P0C0S5" } ], "protein_names": [ { "name": "Histone H2A.Z", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P0C0S5" }, { "name": "H2A/z", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P0C0S5" }, { "name": "H2AZ histone; H2A histone family member Z", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002097", "id": "NP_002097" }, { "name": "histone H2A.Z", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002097", "id": "NP_002097" } ], "function": [ { "annotation": "Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent member of the histone H2A family that is distinct from other members of the family. Studies in mice have shown that this particular histone is required for embryonic development and indicate that lack of functional histone H2A leads to embryonic lethality. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_002097", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002097" } ] }, { "annotation": "Interplay Between the Histone Variant H2A.Z and the Epigenome in Pancreatic Cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_002097", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002097" }, { "database": "PubMed", "id": "36470770", "url": "https://glygen.org/publication/PubMed/36470770" } ] }, { "annotation": "MicroRNA-455-3p accelerate malignant progression of tumor by targeting H2AFZ in colorectal cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_002097", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002097" }, { "database": "PubMed", "id": "36482739", "url": "https://glygen.org/publication/PubMed/36482739" } ] }, { "annotation": "SENP5 promotes homologous recombination-mediated DNA damage repair in colorectal cancer cells through H2AZ deSUMOylation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_002097", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002097" }, { "database": "PubMed", "id": "37684630", "url": "https://glygen.org/publication/PubMed/37684630" } ] }, { "annotation": "The H2A.Z-KDM1A complex promotes tumorigenesis by localizing in the nucleus to promote SFRP1 promoter methylation in cholangiocarcinoma cells. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_002097", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002097" }, { "database": "PubMed", "id": "36368958", "url": "https://glygen.org/publication/PubMed/36368958" } ] }, { "annotation": "Variant histone H2A which replaces conventional H2A in a subset of nucleosomes. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. May be involved in the formation of constitutive heterochromatin. May be required for chromosome segregation during cell division.", "evidence": [ { "database": "UniProtKB", "id": "P0C0S5", "url": "https://www.uniprot.org/uniprot/P0C0S5#function" }, { "database": "PubMed", "id": "15878876", "url": "https://glygen.org/publication/PubMed/15878876" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1578248165", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1578248165" }, { "id": "rs1578248165", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1578248165" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 102, "end_pos": 102, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KAT->NAT).", "chr_id": "4", "chr_pos": "99948830", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K102", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P0C0S5", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P0C0S5" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 43, "end_pos": 43, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (S->C).", "chr_id": "4", "chr_pos": "99949341", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S43", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. 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somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P0C0S5", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P0C0S5" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 43, "end_pos": 43, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "I", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (S->I).", "chr_id": "4", "chr_pos": "99949340", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S43", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", 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"uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1276634852", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1276634852" }, { "id": "rs1276634852", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1276634852" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 43, "end_pos": 43, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->N).", "chr_id": "4", "chr_pos": "99949340", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S43", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P0C0S5", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P0C0S5" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 8, "end_pos": 8, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KDS->NDS).", "chr_id": "4", "chr_pos": "99949720", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K8", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [ { "start_pos": 101, "end_pos": 101, "sequence_org": "I", "sequence_mut": "IG", "comment": "Abolishes interaction with VPS72; when associated with I-83 and N-93.", "evidence": [ { "database": "UniProtKB", "id": "P0C0S5", "url": "https://www.uniprot.org/uniprot/P0C0S5" }, { "database": "PubMed", "id": "26974126", "url": "https://glygen.org/publication/PubMed/26974126" } ] }, { "start_pos": 12, "end_pos": 14, "sequence_org": "KAK", "sequence_mut": "AAA", "comment": "Decreased acetylation by KAT2A.", "evidence": [ { "database": "UniProtKB", "id": "P0C0S5", "url": "https://www.uniprot.org/uniprot/P0C0S5" }, { "database": "PubMed", "id": "31527837", "url": "https://glygen.org/publication/PubMed/31527837" } ] }, { "start_pos": 5, "end_pos": 14, "sequence_org": "KAGKDSGKAK", "sequence_mut": "AAGKDSGAAA", "comment": "Decreased acetylation by KAT2A.", "evidence": [ { "database": "UniProtKB", "id": "P0C0S5", "url": "https://www.uniprot.org/uniprot/P0C0S5" }, { "database": "PubMed", "id": "31527837", "url": "https://glygen.org/publication/PubMed/31527837" } ] }, { "start_pos": 5, "end_pos": 8, "sequence_org": "KAGK", "sequence_mut": "AAGA", "comment": "Decreased acetylation by KAT2A.", "evidence": [ { "database": "UniProtKB", "id": "P0C0S5", "url": "https://www.uniprot.org/uniprot/P0C0S5" }, { "database": "PubMed", "id": "31527837", "url": "https://glygen.org/publication/PubMed/31527837" } ] }, { "start_pos": 83, "end_pos": 83, "sequence_org": "T", "sequence_mut": "I", "comment": "Decreases interaction with VPS72. Almost abolishes interaction with VPS72; when associated with N-93. Abolishes interaction with VPS72; when associated with N-93 and IG-101.", "evidence": [ { "database": "UniProtKB", "id": "P0C0S5", "url": "https://www.uniprot.org/uniprot/P0C0S5" }, { "database": "PubMed", "id": "26974126", "url": "https://glygen.org/publication/PubMed/26974126" } ] }, { "start_pos": 93, "end_pos": 93, "sequence_org": "G", "sequence_mut": "N", "comment": "Decreases interaction with VPS72. Almost abolishes interaction with VPS72; when associated with I-83. Abolishes interaction with VPS72; when associated with I-83 and IG-101.", "evidence": [ { "database": "UniProtKB", "id": "P0C0S5", "url": "https://www.uniprot.org/uniprot/P0C0S5" }, { "database": "PubMed", "id": "26974126", "url": "https://glygen.org/publication/PubMed/26974126" } ] }, { "start_pos": 98, "end_pos": 98, "sequence_org": "D", "sequence_mut": "N", "comment": "No effect on interaction with VPS72.", "evidence": [ { "database": "UniProtKB", "id": "P0C0S5", "url": "https://www.uniprot.org/uniprot/P0C0S5" }, { "database": "PubMed", "id": "26974126", "url": "https://glygen.org/publication/PubMed/26974126" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "96.96", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000164032", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164032" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "99.14", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000164032", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164032" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "97.83", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000164032", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164032" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "97.92", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000164032", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164032" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "98.69", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000164032", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164032" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "98.93", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000164032", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164032" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "99.31", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000164032", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164032" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "98.64", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000164032", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164032" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "97.49", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000164032", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164032" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "97.81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000164032", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164032" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "92.24", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000164032", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164032" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "98.27", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000164032", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164032" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "97.91", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000164032", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000164032" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P0C0S5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0C0S5" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", 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"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": 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"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": 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hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P0C0S5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0C0S5" } ], "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": 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{ "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P0C0S5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0C0S5" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": 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"description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": 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system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P0C0S5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0C0S5" } ], "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": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "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 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P0C0S5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0C0S5" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0C0S5" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P0C0S5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0C0S5" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": 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{ "isoform_ac": "P0C0S5-1", "url": "", "sequence": { "sequence": "MAGGKAGKDSGKAKTKAVSRSQRAGLQFPVGRIHRHLKSRTTSHGRVGATAAVYSAAILEYLTAEVLELAGNASKDLKVKRITPRHLQLAIRGDEELDSLIKATIAGGGVIPHIHKSLIGKKGQQKTV", "length": 128, "header": "sp|P0C0S5-1|H2AZ_HUMAN Isoform 1 of Histone H2A.Z OS=Homo sapiens OX=9606 GN=H2AZ1 PE=1 SV=2 CANONICAL=P0C0S5-1" }, "locus": { "chromosome": "4", "start_pos": 99950170, "end_pos": 99948465, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000296417.6", "url": "https://www.ensembl.org/id/ENST00000296417.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000296417.5", "url": "https://www.ensembl.org/id/ENSP00000296417.5" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 43, "start_aa": "Ser", "end_pos": 43, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser43", "evidence": [ { "id": "P0C0S5", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P0C0S5" }, { "id": "21896475", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21896475" }, { "id": "32522876", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32522876" }, { "id": "22121020", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22121020" }, { "id": "25367160", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25367160" }, { "id": "P0C0S5", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P0C0S5" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Constitutive and regulated alpha-secretase cleavage of Alzheimer's amyloid precursor protein by a disintegrin metalloprotease.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Lammich S, Kojro E, Postina R, Gilbert S, Pfeiffer R, Jasionowski M, Haass C, Fahrenholz F", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "10097139", "url": "https://glygen.org/publication/PubMed/10097139" } ] }, { "title": "Synphilin-1 associates with alpha-synuclein and promotes the formation of cytosolic inclusions.", "journal": "Nature genetics", "date": "1999", "authors": "Engelender S, Kaminsky Z, Guo X, Sharp AH, Amaravi RK, Kleiderlein JJ, Margolis RL, Troncoso JC, Lanahan AA, Worley PF, Dawson VL, Dawson TM, Ross CA", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "10319874", "url": "https://glygen.org/publication/PubMed/10319874" } ] }, { "title": "A stop-codon mutation in the BRI gene associated with familial British dementia.", "journal": "Nature", "date": "1999", "authors": "Vidal R, Frangione B, Rostagno A, Mead S, Revesz T, Plant G, Ghiso J", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "10391242", "url": "https://glygen.org/publication/PubMed/10391242" } ] }, { "title": "Medin: an integral fragment of aortic smooth muscle cell-produced lactadherin forms the most common human amyloid.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Haggqvist B, Naslund J, Sletten K, Westermark GT, Mucchiano G, Tjernberg LO, Nordstedt C, Engstrom U, Westermark P", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "10411933", "url": "https://glygen.org/publication/PubMed/10411933" } ] }, { "title": "Interactions of Alzheimer amyloid-beta peptides with glycosaminoglycans effects on fibril nucleation and growth.", "journal": "European journal of biochemistry", "date": "1999", "authors": "McLaurin J, Franklin T, Zhang X, Deng J, Fraser PE", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "10583407", "url": "https://glygen.org/publication/PubMed/10583407" } ] }, { "title": "A furin-like convertase mediates propeptide cleavage of BACE, the Alzheimer's beta -secretase.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Bennett BD, Denis P, Haniu M, Teplow DB, Kahn S, Louis JC, Citron M, Vassar R", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "10956649", "url": "https://glygen.org/publication/PubMed/10956649" } ] }, { "title": "Crystal structure of a nucleosome core particle containing the variant histone H2A.Z.", "journal": "Nat. 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Biol.", "date": "2000", "authors": "Suto R K, Clarkson M J, Tremethick D J, Luger K", "evidence": [ { "database": "UniProtKB", "id": "P0C0S5", "url": "https://www.uniprot.org/uniprot/P0C0S5" } ], "reference": [ { "type": "PubMed", "id": "11101893", "url": "https://glygen.org/publication/PubMed/11101893" } ] }, { "title": "Phosphorylation regulates intracellular trafficking of beta-secretase.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Walter J, Fluhrer R, Hartung B, Willem M, Kaether C, Capell A, Lammich S, Multhaup G, Haass C", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "11278841", "url": "https://glygen.org/publication/PubMed/11278841" } ] }, { "title": "A new human hereditary amyloidosis: the result of a stop-codon mutation in the apolipoprotein AII gene.", "journal": "Genomics", "date": "2001", "authors": "Benson MD, Liepnieks JJ, Yazaki M, Yamashita T, Hamidi Asl K, Guenther B, Kluve-Beckerman B", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "11401442", "url": "https://glygen.org/publication/PubMed/11401442" } ] }, { "title": "Codeposition of apolipoprotein A-IV and transthyretin in senile systemic (ATTR) amyloidosis.", "journal": "Biochemical and biophysical research communications", "date": "2001", "authors": "Bergstrom J, Murphy C, Eulitz M, Weiss DT, Westermark GT, Solomon A, Westermark P", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "11467836", "url": "https://glygen.org/publication/PubMed/11467836" } ] }, { "title": "Parkin ubiquitinates the alpha-synuclein-interacting protein, synphilin-1: implications for Lewy-body formation in Parkinson disease.", "journal": "Nature medicine", "date": "2001", "authors": "Chung KK, Zhang Y, Lim KL, Tanaka Y, Huang H, Gao J, Ross CA, Dawson VL, Dawson TM", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "11590439", "url": "https://glygen.org/publication/PubMed/11590439" } ] }, { "title": "Histone ubiquitination: a tagging tail unfolds?", "journal": "BioEssays : news and reviews in molecular, cellular and developmental biology", "date": "2002", "authors": "Jason LJ, Moore SC, Lewis JD, Lindsey G, Ausio J", "evidence": [ { "database": "UniProtKB", "id": "P0C0S5", "url": "https://www.uniprot.org/uniprot/P0C0S5" } ], "reference": [ { "type": "PubMed", "id": "11835281", "url": "https://glygen.org/publication/PubMed/11835281" } ] }, { "title": "Binding of serum amyloid P-component (SAP) by amyloid fibrils.", "journal": "Clinical and experimental immunology", "date": "1979", "authors": "Pepys MB, Dyck RF, de Beer FC, Skinner M, Cohen AS", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "118839", "url": "https://glygen.org/publication/PubMed/118839" } ] }, { "title": "Loss of calbindin-D28k from aging human cholinergic basal forebrain: relation to neuronal loss.", "journal": "The Journal of comparative neurology", "date": "2003", "authors": "Geula C, Bu J, Nagykery N, Scinto LF, Chan J, Joseph J, Parker R, Wu CK", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "12454989", "url": "https://glygen.org/publication/PubMed/12454989" } ] }, { "title": "Isolation and partial characterization of SAA-an amyloid-related protein from human serum.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": 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"journal": "Biochemistry", "date": "2003", "authors": "He X, Zhu G, Koelsch G, Rodgers KK, Zhang XC, Tang J", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "14567678", "url": "https://glygen.org/publication/PubMed/14567678" } ] }, { "title": "Ubiquitylation of synphilin-1 and alpha-synuclein by SIAH and its presence in cellular inclusions and Lewy bodies imply a role in Parkinson's disease.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Liani E, Eyal A, Avraham E, Shemer R, Szargel R, Berg D, Bornemann A, Riess O, Ross CA, Rott R, Engelender S", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "15064394", "url": "https://glygen.org/publication/PubMed/15064394" } ] }, { "title": "Transcription-induced chromatin remodeling at the c-myc gene involves the local exchange of histone H2A.Z.", "journal": "The Journal of biological chemistry", "date": "2005-07-01", "authors": "Farris Stephen D, Rubio Eric D, Moon James J, Gombert Wendy M, Nelson Brad H, Krumm Anton", "evidence": [ { "database": "UniProtKB", "id": "P0C0S5", "url": "https://www.uniprot.org/uniprot/P0C0S5" } ], "reference": [ { "type": "PubMed", "id": "15878876", "url": "https://glygen.org/publication/PubMed/15878876" } ] }, { "title": "Senile seminal vesicle amyloid is derived from semenogelin I.", "journal": "The Journal of laboratory and clinical medicine", "date": "2005", "authors": "Linke RP, Joswig R, Murphy CL, Wang S, Zhou H, Gross U, Rocken C, Westermark P, Weiss DT, Solomon A", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "15962837", "url": 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