{ "uniprot_canonical_ac": "P04350-1", "uniprot_ac": "P04350", "uniprot_id": "TBB4A_HUMAN", "mass": { "chemical_mass": 49586.0, "monoisotopic_mass": 49586.0 }, "refseq": { "ac": "NP_001276052", "name": "tubulin beta-4A chain isoform 1", "summary": "This gene encodes a member of the beta tubulin family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene cause hypomyelinating leukodystrophy-6 and autosomal dominant torsion dystonia-4. Alternate splicing results in multiple transcript variants encoding different isoforms. A pseudogene of this gene is found on chromosome X. [provided by RefSeq, Jan 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276052" }, "gene_names": [ { "name": "TUBB4A", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P04350", "id": "P04350" }, { "name": "TUBB4A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276052", "id": "NP_001276052" }, { "name": "TUBB4", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P04350", "id": "P04350" }, { "name": "TUBB5", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P04350", "id": "P04350" }, { "name": "beta-5; DYT4; TUBB4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276052", "id": "NP_001276052" } ], "protein_names": [ { "name": "Tubulin beta-4A chain", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P04350" }, { "name": "Tubulin 5 beta", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04350" }, { "name": "Tubulin beta-4 chain", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04350" }, { "name": "tubulin beta-4A chain isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276052", "id": "NP_001276052" }, { "name": "tubulin, beta, 5; dystonia 4, torsion (autosomal dominant); tubulin beta-4 chain; tubulin, beta 4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276052", "id": "NP_001276052" } ], "function": [ { "annotation": "A de novo mutation in the beta-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum.", "evidence": [ { "database": "RefSeq", "id": "NP_001276052", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276052" }, { "database": "PubMed", "id": "23582646", "url": "https://glygen.org/publication/PubMed/23582646" } ] }, { "annotation": "Mutation in the beta-tubulin gene TUBB4A results in epileptic encephalopathy associated with hypomyelinated leucodystrophy: Unexpected findings reveal genetic mosaicism.", "evidence": [ { "database": "RefSeq", "id": "NP_001276052", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276052" }, { "database": "PubMed", "id": "37529938", "url": "https://glygen.org/publication/PubMed/37529938" } ] }, { "annotation": "Novel TUBB4A mutation in a family with hereditary spastic paraplegia.", "evidence": [ { "database": "RefSeq", "id": "NP_001276052", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276052" }, { "database": "PubMed", "id": "35871212", "url": "https://glygen.org/publication/PubMed/35871212" } ] }, { "annotation": "This gene encodes a member of the beta tubulin family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene cause hypomyelinating leukodystrophy-6 and autosomal dominant torsion dystonia-4. Alternate splicing results in multiple transcript variants encoding different isoforms. A pseudogene of this gene is found on chromosome X. [provided by RefSeq, Jan 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_001276052", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276052" } ] }, { "annotation": "This study demonistrated that TUBB4A mutation in the autoregulatory domain cause hereditary dystonia.", "evidence": [ { "database": "RefSeq", "id": "NP_001276052", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276052" }, { "database": "PubMed", "id": "23424103", "url": "https://glygen.org/publication/PubMed/23424103" } ] }, { "annotation": "Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilizing cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin.", "evidence": [ { "database": "UniProtKB", "id": "M0R042", "url": "https://www.uniprot.org/uniprot/M0R042#function" }, { "database": "UniProtKB", "id": "RU000352", "url": "https://www.uniprot.org/uniprot/RU000352#function" }, { "database": "UniProtKB", "id": "M0R1I1", "url": "https://www.uniprot.org/uniprot/M0R1I1#function" }, { "database": "UniProtKB", "id": "P04350", "url": "https://www.uniprot.org/uniprot/P04350#function" } ] }, { "annotation": "[Analysis of TUBB4A gene variant in a patient with adolescent-onset hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum].", "evidence": [ { "database": "RefSeq", "id": "NP_001276052", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276052" }, { "database": "PubMed", "id": "36972930", "url": "https://glygen.org/publication/PubMed/36972930" } ] } ], "disease": [ { "disease_id": "DOID:0060798", "recommended_name": { "id": "DOID:0060798", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060798", "name": "hypomyelinating leukodystrophy 6", "description": "A hypomyelinating leukodystrophy characterized by infant or early childhood onset of delayed motor development and gait instability, followed by extrapyramidal movement disorders, progressive spastic tetraplegia, ataxia, hypomyelination, cerebellar atrophy, and atrophy or disappearance of the putamen that has_material_basis_in heterozygous mutation in the TUBB4A gene on chromosome 19p13." }, "synonyms": [ { "id": "DOID:0060798", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060798", "name": "hypomyelination with atrophy of basal ganglia and cerebellum", "description": "" }, { "id": "DOID:0060798", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060798", "name": "H-ABC", "description": "" }, { "id": "DOID:0060798", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060798", "name": "HABC", "description": "" }, { "id": "DOID:0060798", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060798", "name": "HLD6", "description": "" }, { "id": "DOID:0060798", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060798", "name": "hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum", "description": "" }, { "id": "MONDO:0012905", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012905", "name": "hypomyelinating leukodystrophy 6", "description": "A leukodystrophy characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria." }, { "id": "MONDO:0012905", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012905", "name": "H-ABC", "description": "" }, { "id": "MONDO:0012905", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012905", "name": "HABC", "description": "" }, { "id": "MONDO:0012905", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012905", "name": "HLD6", "description": "" }, { "id": "MONDO:0012905", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012905", "name": "hypomyelinating leukodystrophy type 6", "description": "" }, { "id": "MONDO:0012905", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012905", "name": "hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum", "description": "" }, { "id": "MONDO:0012905", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012905", "name": "hypomyelination with atrophy of basal ganglia and cerebellum", "description": "" }, { "id": "MONDO:0012905", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012905", "name": "leukodystrophy, hypomyelinating, type 6", "description": "" }, { "id": "MONDO:0012905", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012905", "name": "leukodystrophy, hypomyelinating, 6", "description": "" }, { "id": "MONDO:0012905", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012905", "name": "leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum", "description": "" }, { "id": "MIM:612438", "resource": "MIM", "url": "https://www.omim.org/entry/612438", "name": "Leukodystrophy, hypomyelinating, 6", "description": "Leukodystrophy, hypomyelinating, 6" } ], "evidence": [ { "id": "612438", "database": "MIM", "url": "https://www.omim.org/entry/612438" } ] }, { "disease_id": "DOID:0090041", "recommended_name": { "id": "DOID:0090041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090041", "name": "torsion dystonia 4", "description": "A dystonia that is characterized by progressive laryngeal and cervical dystonia (onset in the second to third decade of life) followed by involvement of other muscles, such as the neck or limbs that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 4A class IVa (TUBB4A) gene on chromosome 19p13." }, "synonyms": [ { "id": "MONDO:0007493", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007493", "name": "torsion dystonia 4", "description": "DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis)." }, { "id": "MONDO:0007493", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007493", "name": "DYT4", "description": "" }, { "id": "MONDO:0007493", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007493", "name": "hereditary whispering dysphonia", "description": "" }, { "id": "MONDO:0007493", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007493", "name": "torsion dystonia type 4", "description": "" }, { "id": "MONDO:0007493", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007493", "name": "whispering dysphonia", "description": "" }, { "id": "MONDO:0007493", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007493", "name": "autosomal dominant torsion dystonia-4", "description": "" }, { "id": "MONDO:0007493", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007493", "name": "dystonia 4, torsion, autosomal dominant", "description": "" }, { "id": "MONDO:0007493", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007493", "name": "dystonia musculorum deformans 4", "description": "" }, { "id": "MONDO:0007493", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007493", "name": "primary dystonia, DYT4 type", "description": "" }, { "id": "MONDO:0007493", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007493", "name": "whispering dysphonia, hereditary", "description": "" }, { "id": "MIM:128101", "resource": "MIM", "url": "https://www.omim.org/entry/128101", "name": "Dystonia 4, torsion, autosomal dominant", "description": "Dystonia 4, torsion, autosomal dominant" } ], "evidence": [ { "id": "128101", "database": "MIM", "url": "https://www.omim.org/entry/128101" } ] } ], "snv": [ { "evidence": [ { "id": "rs909326030", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs909326030" }, { "id": "rs909326030", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs909326030" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 102, "end_pos": 102, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NWA->NWS).", "chr_id": "19", "chr_pos": "6501260", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A102", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1182475407", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1182475407" }, { "id": "rs1182475407", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1182475407" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 126, "end_pos": 126, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->R).", "chr_id": "19", "chr_pos": "6496123", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S126", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P04350", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P04350" } ], "glycoeffect": [], "start_pos": 302, "end_pos": 302, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "6495594", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A302", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] }, { "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", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, 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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}, { "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", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P04350", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04350" } ], "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", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P04350", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04350" } ], "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": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "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": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P04350", "url": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04350" } ], "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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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04350" } ], "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": [ { 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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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"M0QY37", "url": "https://www.uniprot.org/uniprot/M0QY37", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M0QY37-1", "url": "https://www.uniprot.org/uniprot/M0QY37-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M0QY85", "url": "https://www.uniprot.org/uniprot/M0QY85", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M0QY85-1", "url": "https://www.uniprot.org/uniprot/M0QY85-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M0QYM7", "url": "https://www.uniprot.org/uniprot/M0QYM7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M0QYM7-1", "url": "https://www.uniprot.org/uniprot/M0QYM7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M0QZL7", "url": "https://www.uniprot.org/uniprot/M0QZL7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M0QZL7-1", "url": "https://www.uniprot.org/uniprot/M0QZL7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M0R042", "url": "https://www.uniprot.org/uniprot/M0R042", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M0R042-1", "url": "https://www.uniprot.org/uniprot/M0R042-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M0R0M1", "url": "https://www.uniprot.org/uniprot/M0R0M1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M0R0M1-1", "url": "https://www.uniprot.org/uniprot/M0R0M1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M0R0X0", "url": "https://www.uniprot.org/uniprot/M0R0X0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M0R0X0-1", "url": "https://www.uniprot.org/uniprot/M0R0X0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M0R1I1", "url": "https://www.uniprot.org/uniprot/M0R1I1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M0R1I1-1", "url": "https://www.uniprot.org/uniprot/M0R1I1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M0R278", "url": "https://www.uniprot.org/uniprot/M0R278", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M0R278-1", "url": "https://www.uniprot.org/uniprot/M0R278-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M0R2D3", "url": "https://www.uniprot.org/uniprot/M0R2D3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M0R2D3-1", "url": "https://www.uniprot.org/uniprot/M0R2D3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M0R2T4", "url": "https://www.uniprot.org/uniprot/M0R2T4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M0R2T4-1", "url": "https://www.uniprot.org/uniprot/M0R2T4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04350", "url": "https://www.uniprot.org/uniprot/P04350", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04350-1", "url": "https://www.uniprot.org/uniprot/P04350-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MREIVHLQAGQCGNQIGAKFWEVISDEHGIDPTGTYHGDSDLQLERINVYYNEATGGNYVPRAVLVDLEPGTMDSVRSGPFGQIFRPDNFVFGQSGAGNNWAKGHYTEGAELVDAVLDVVRKEAESCDCLQGFQLTHSLGGGTGSGMGTLLISKIREEFPDRIMNTFSVVPSPKVSDTVVEPYNATLSVHQLVENTDETYCIDNEALYDICFRTLKLTTPTYGDLNHLVSATMSGVTTCLRFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTSRGSQQYRALTVPELTQQMFDAKNMMAACDPRHGRYLTVAAVFRGRMSMKEVDEQMLSVQSKNSSYFVEWIPNNVKTAVCDIPPRGLKMAATFIGNSTAIQELFKRISEQFTAMFRRKAFLHWYTGEGMDEMEFTEAESNMNDLVSEYQQYQDATAEEGEFEEEAEEEVA", "length": 444, "header": "sp|P04350-1|TBB4A_HUMAN Isoform 1 of Tubulin beta-4A chain OS=Homo sapiens OX=9606 GN=TUBB4A PE=1 SV=2 CANONICAL=P04350-1" }, "isoforms": [ { "isoform_ac": "M0QX14-1", "url": "", "sequence": { "sequence": "MREIVHLQAGQCGNQIGAKFWEVISDEHGIDPTGTYHGDSDLQLERINVYYNEATGGNYVPRAVLVDLEPGTMDSVRSGPFGQIFRPDNFVFVETGFHRVSQDGLDLLTS", "length": 110, "header": "tr|M0QX14-1|TBB4A_HUMAN Computationally mapped isoform of Tubulin beta-4A chain OS=Homo sapiens OX=9606 GN=TUBB4A PE=1 SV=1 CANONICAL=P04350-1" }, "locus": { "chromosome": "19", "start_pos": 6502212, "end_pos": 6496411, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000596926.5", "url": "https://www.ensembl.org/id/ENST00000596926.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000468843.1", "url": "https://www.ensembl.org/id/ENSP00000468843.1" } ] } }, { "isoform_ac": "M0QY37-1", "url": "", "sequence": { "sequence": "MREIVHLQAGQCGNQIGAKFWEVISDEHGIDPTGTYHGDSDLQLERINVYYNEATGGNYVPRAVLVDLEPGTMDSVRSGPFGQIFRPDNFVFGESPSREPEAGKPPYSC", "length": 109, "header": "tr|M0QY37-1|TBB4A_HUMAN Computationally mapped isoform of Tubulin beta-4A chain OS=Homo sapiens OX=9606 GN=TUBB4A PE=1 SV=1 CANONICAL=P04350-1" }, "locus": { "chromosome": "19", "start_pos": 6502212, "end_pos": 6501237, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000595324.5", "url": "https://www.ensembl.org/id/ENST00000595324.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000469560.1", "url": "https://www.ensembl.org/id/ENSP00000469560.1" } ] } }, { "isoform_ac": "M0QY85-1", "url": "", "sequence": { "sequence": "MREIVHLQAGQCGNQIGAKFWEVISDEHGIDPTGTYHGDSDLQLERINVYYNEATGGNYVPRAVLVDLEPGTMDSVRSGPFGQIFRPDNFVFGQSGAGNNWAKGHYT", "length": 107, "header": "tr|M0QY85-1|TBB4A_HUMAN Computationally mapped isoform of Tubulin beta-4A chain OS=Homo sapiens OX=9606 GN=TUBB4A PE=1 SV=1 CANONICAL=P04350-1" }, "locus": { "chromosome": "19", "start_pos": 6502212, "end_pos": 6496178, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000601640.5", "url": "https://www.ensembl.org/id/ENST00000601640.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000469660.1", "url": "https://www.ensembl.org/id/ENSP00000469660.1" } ] } }, { "isoform_ac": "M0QYM7-1", "url": "", "sequence": { "sequence": "MREIVHLQAGQCGNQIGAKFWEVISDEHGIDPTGTYHGDSDLQLERINVYYNEAESCDCLQGFQLTHSLGGGTGSGMGTLLISKIREEFPDRIMNTFSVVPSPKVSDTVVEPYNATLSVHQLVENTDETYCIDNEALYDICFRTLKLTTPTYGDLNHLVS", "length": 160, "header": "tr|M0QYM7-1|M0QYM7_HUMAN Computationally mapped isoform of Tubulin beta 4A class IVa OS=Homo sapiens OX=9606 GN=TUBB4A PE=1 SV=8 CANONICAL=P04350-1" }, "locus": { "chromosome": "19", "start_pos": 6502212, "end_pos": 6495809, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000594075.5", "url": "https://www.ensembl.org/id/ENST00000594075.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000469936.1", "url": "https://www.ensembl.org/id/ENSP00000469936.1" } ] } }, { "isoform_ac": "M0QZL7-1", "url": "", "sequence": { "sequence": "MRRGAADRETERLPGAQGPCSAVSAASSTLAAAAAPRARATAAASTLSATAMREIVHLQAGQCGNQIGAKFWEVISDEHGIDPTGTYHGDSDLQLERINVYYNEATGGNYVPRAVLVDLEPGTMDSVRSGPFGQIFRPDNFVFGQSGAGNNWAKGHY", "length": 157, "header": "tr|M0QZL7-1|TBB4A_HUMAN Computationally mapped isoform of Tubulin beta-4A chain OS=Homo sapiens OX=9606 GN=TUBB4A PE=1 SV=8 CANONICAL=P04350-1" }, "locus": { "chromosome": "19", "start_pos": 6502711, "end_pos": 6496181, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000598635.1", "url": "https://www.ensembl.org/id/ENST00000598635.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000470627.1", "url": "https://www.ensembl.org/id/ENSP00000470627.1" } ] } }, { "isoform_ac": "M0R042-1", "url": "", "sequence": { "sequence": "MREIVHLQAGQCGNQIGAKFWEGAELVDAVLDVVRKEAESCDCLQGFQLTHSLGGGTGSGMGTLLISKIREEFPDRIMNTFSVVPSPKVSDTVVEPYNATLSVHQLVENTDETYCIDNEALYDICFRTLKLTTPTYGDLNHLVS", "length": 144, "header": "tr|M0R042-1|TBB4A_HUMAN Computationally mapped isoform of Tubulin beta-4A chain OS=Homo sapiens OX=9606 GN=TUBB4A PE=1 SV=1 CANONICAL=P04350-1" }, "locus": { "chromosome": "19", "start_pos": 6502212, "end_pos": 6495809, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000600216.5", "url": "https://www.ensembl.org/id/ENST00000600216.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000470983.1", "url": "https://www.ensembl.org/id/ENSP00000470983.1" } ] } }, { "isoform_ac": "M0R0M1-1", "url": "", "sequence": { "sequence": "MREIVHLQAHTMGTVTCNWRGSTCTTTRPQEEIMSPERCWWTWNPAPWTLSVLAPSVRSFGRTTSCLANPEPATTGQRGTTRRAQSWWTLSWT", "length": 93, "header": "tr|M0R0M1-1|TBB4A_HUMAN Computationally mapped isoform of Tubulin beta-4A chain OS=Homo sapiens OX=9606 GN=TUBB4A PE=1 SV=1 CANONICAL=P04350-1" }, "locus": { "chromosome": "19", "start_pos": 6502212, "end_pos": 6496144, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000601152.5", "url": "https://www.ensembl.org/id/ENST00000601152.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000471320.1", "url": "https://www.ensembl.org/id/ENSP00000471320.1" } ] } }, { "isoform_ac": "M0R0X0-1", "url": "", "sequence": { "sequence": "MREIVHLQAGQCGNQIGAKFWEVISDEHGIDPTGTYHGDSDLQLERINVYYNEATGGNYVPRAVLVDLEPGTMDSVRSGPFGQIFRPDNFVFDRVCLSCCHPG", "length": 103, "header": "tr|M0R0X0-1|TBB4A_HUMAN Computationally mapped isoform of Tubulin beta-4A chain OS=Homo sapiens OX=9606 GN=TUBB4A PE=1 SV=1 CANONICAL=P04350-1" }, "locus": { "chromosome": "19", "start_pos": 6502212, "end_pos": 6500711, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000594290.5", "url": "https://www.ensembl.org/id/ENST00000594290.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000471503.1", "url": "https://www.ensembl.org/id/ENSP00000471503.1" } ] } }, { "isoform_ac": "M0R1I1-1", "url": "", "sequence": { "sequence": "MDSVRSGPFGQIFRPDNFVFGQSGAGNNWAKGHYTEGAELVDAVLDVVRKEAESCDCLQGFQLTHSLGGGTGSG", "length": 74, "header": "tr|M0R1I1-1|TBB4A_HUMAN Computationally mapped isoform of Tubulin beta-4A chain OS=Homo sapiens OX=9606 GN=TUBB4A PE=1 SV=1 CANONICAL=P04350-1" }, "locus": { "chromosome": "19", "start_pos": 6501347, "end_pos": 6496061, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000596291.1", "url": "https://www.ensembl.org/id/ENST00000596291.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000471880.1", "url": 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"MREIVHLQAGQCGNQIGAKFWEVISDEHGIDPTGTYHGDSDLQLERINVYYNEEFPDRIMNTFSVVPSPKVSDTVVEPYNATLSVHQLVENTDETYCIDNEALYDICFRTLKLTTPTYGDLNHLVSATMSGVTTCLRFPGQLNADLRKLAVNMVP", "length": 155, "header": "tr|M0R2D3-1|TBB4A_HUMAN Computationally mapped isoform of Tubulin beta-4A chain OS=Homo sapiens OX=9606 GN=TUBB4A PE=1 SV=1 CANONICAL=P04350-1" }, "locus": { "chromosome": "19", "start_pos": 6502212, "end_pos": 6495722, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000594276.5", "url": "https://www.ensembl.org/id/ENST00000594276.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000472481.1", "url": "https://www.ensembl.org/id/ENSP00000472481.1" } ] } }, { "isoform_ac": "M0R2T4-1", "url": "", "sequence": { "sequence": "MREIVHLQAGQCGNQIGAKAHTMGTVTCNWRGSTCTTTRPQEEIMSPERCWWTWNPAPWTLSVLAPSVRSFGRTTSCLANPEPATTGQRGTTRRAQSWWTLSWT", "length": 104, "header": "tr|M0R2T4-1|TBB4A_HUMAN Computationally mapped isoform of Tubulin beta-4A chain OS=Homo sapiens OX=9606 GN=TUBB4A PE=1 SV=1 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PE=1 SV=2 CANONICAL=P04350-1" }, "locus": { "chromosome": "19", "start_pos": 6502212, "end_pos": 6495167, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000264071.7", "url": "https://www.ensembl.org/id/ENST00000264071.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000264071.1", "url": "https://www.ensembl.org/id/ENSP00000264071.1" } ] } } ], "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": 126, "start_aa": "Ser", "end_pos": 126, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser126", "evidence": [ { "id": "P04350", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04350" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "34725712", "database": "PubMed", "url": 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"keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Opposing motor activities of dynein and kinesin determine retention and transport of MHC class II-containing compartments.", "journal": "Journal of cell science", "date": "1999", "authors": "Wubbolts R, Fernandez-Borja M, Jordens I, Reits E, Dusseljee S, Echeverri C, Vallee RB, Neefjes J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10036229", "url": "https://glygen.org/publication/PubMed/10036229" } ] }, { "title": "Coupling of coat assembly and vesicle budding to packaging of putative cargo receptors.", "journal": "Cell", "date": "1999", "authors": "Bremser M, Nickel W, Schweikert M, Ravazzola M, Amherdt M, Hughes CA, Sollner TH, Rothman JE, Wieland FT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "10052452", "url": "https://glygen.org/publication/PubMed/10052452" } ] }, { "title": "Identification of destabilizing residues in HLA class II-selected bacteriophage display libraries edited by HLA-DM.", "journal": "European journal of immunology", "date": "1999", "authors": "Raddrizzani L, Bono E, Vogt AB, Kropshofer H, Gallazzi F, Sturniolo T, Hammerling GJ, Sinigaglia F, Hammer J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10064083", "url": "https://glygen.org/publication/PubMed/10064083" } ] }, { "title": "Cytoplasmic dynein heavy chain 1b is required for flagellar assembly in Chlamydomonas.", "journal": "Molecular biology of the cell", "date": "1999", "authors": "Porter ME, Bower R, Knott JA, Byrd P, Dentler W", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620924", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924" } ], "reference": [ { "type": "PubMed", "id": "10069812", "url": "https://glygen.org/publication/PubMed/10069812" } ] }, { "title": "Cathepsin S required for normal MHC class II peptide loading and germinal center development.", "journal": "Immunity", "date": "1999", "authors": "Shi GP, Villadangos JA, Dranoff G, Small C, Gu L, Haley KJ, Riese R, Ploegh HL, Chapman HA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10072072", "url": "https://glygen.org/publication/PubMed/10072072" } ] }, { "title": "Double-stranded-RNA-activated protein kinase PKR enhances transcriptional activation by tumor suppressor p53.", "journal": "Molecular and cellular biology", "date": "1999-04", "authors": "Cuddihy A R, Li S, Tam N W, Wong A H, Taya Y, Abraham N, Bell J C, Koromilas A E", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833482" } ], "reference": [ { "type": "PubMed", "id": "10082513", "url": "https://glygen.org/publication/PubMed/10082513" } ] }, { "title": "Noncanonical MMS2-encoded ubiquitin-conjugating enzyme functions in assembly of novel polyubiquitin chains for DNA repair.", "journal": "Cell", "date": "1999", "authors": "Hofmann RM, Pickart CM", "evidence": [ { "database": "Reactome", "id": "R-HSA-9646399", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9646399" } ], "reference": [ { "type": "PubMed", "id": "10089880", "url": "https://glygen.org/publication/PubMed/10089880" } ] }, { "title": "Synthesis and assembly of connexins in vitro into homomeric and heteromeric functional gap junction hemichannels.", "journal": "The Biochemical journal", "date": "1999", "authors": "Ahmad S, Diez JA, George CH, Evans WH", "evidence": [ { "database": "Reactome", "id": "R-HSA-190861", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-190861" } ], "reference": [ { "type": "PubMed", "id": "10191254", "url": "https://glygen.org/publication/PubMed/10191254" } ] }, { "title": "GTP-dependent binding of ADP-ribosylation factor to coatomer in close proximity to the binding site for dilysine retrieval motifs and p23.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Zhao L, Helms JB, Brunner J, Wieland FT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "10318838", "url": "https://glygen.org/publication/PubMed/10318838" } ] }, { "title": "The double-stranded RNA activated protein kinase PKR physically associates with the tumor suppressor p53 protein and phosphorylates human p53 on serine 392 in vitro.", "journal": "Oncogene", "date": "1999", "authors": "Cuddihy AR, Wong AH, Tam NW, Li S, Koromilas AE", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833482" } ], "reference": [ { "type": "PubMed", "id": "10348343", "url": "https://glygen.org/publication/PubMed/10348343" } ] }, { "title": "Membrane tubule-mediated reassembly and maintenance of the Golgi complex is disrupted by phospholipase A2 antagonists.", "journal": "Molecular biology of the cell", "date": "1999", "authors": "de Figueiredo P, Polizotto RS, Drecktrah D, Brown WJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811436", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811436" } ], "reference": [ { "type": "PubMed", "id": "10359595", "url": "https://glygen.org/publication/PubMed/10359595" } ] }, { "title": "DRBP76, a double-stranded RNA-binding nuclear protein, is phosphorylated by the interferon-induced protein kinase, PKR.", "journal": "The Journal of biological chemistry", "date": "1999-07-16", "authors": "Patel R C, Vestal D J, Xu Z, Bandyopadhyay S, Guo W, Erme S M, Williams B R, Sen G C", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833482" } ], "reference": [ { "type": "PubMed", "id": "10400669", "url": "https://glygen.org/publication/PubMed/10400669" } ] }, { "title": "Identification of a vertebrate sister-chromatid separation inhibitor involved in transformation and tumorigenesis.", "journal": "Science (New York, N.Y.)", "date": "1999", "authors": "Zou H, McGarry TJ, Bernal T, Kirschner MW", "evidence": [ { "database": "Reactome", "id": "R-HSA-2467813", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2467813" } ], "reference": [ { "type": "PubMed", "id": "10411507", "url": "https://glygen.org/publication/PubMed/10411507" } ] }, { "title": "NSF N-terminal domain crystal structure: models of NSF function.", "journal": "Molecular cell", "date": "1999", "authors": "Yu RC, Jahn R, Brunger AT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "10445031", "url": "https://glygen.org/publication/PubMed/10445031" } ] }, { "title": "Cdc42 and Rac1 regulate the interaction of IQGAP1 with beta-catenin.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Fukata M, Kuroda S, Nakagawa M, Kawajiri A, Itoh N, Shoji I, Matsuura Y, Yonehara S, Fujisawa H, Kikuchi A, Kaibuchi K", "evidence": [ { "database": "Reactome", "id": "R-HSA-5626467", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5626467" } ], "reference": [ { "type": "PubMed", "id": "10473551", "url": "https://glygen.org/publication/PubMed/10473551" } ] }, { "title": "Direct transport of newly synthesized HLA-DR from the trans-Golgi network to major histocompatibility complex class II containing compartments (MIICS) demonstrated using a novel tyrosine-sulfated chimera.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Davidson HW", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10480952", "url": "https://glygen.org/publication/PubMed/10480952" } ] }, { "title": "Characterization and dynamics of aggresome formation by a cytosolic GFP-chimera.", "journal": "The Journal of cell biology", "date": "1999", "authors": "Garcia-Mata R, Bebok Z, Sorscher EJ, Sztul ES", "evidence": [ { "database": "Reactome", "id": "R-HSA-9646399", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9646399" } ], "reference": [ { "type": "PubMed", "id": "10491388", "url": "https://glygen.org/publication/PubMed/10491388" } ] }, { "title": "Cell surface expression and metabolism of major histocompatibility complex class II invariant chain (CD74) by diverse cell lines.", "journal": "Immunology", "date": "1999", "authors": "Ong GL, Goldenberg DM, Hansen HJ, Mattes MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10540230", "url": "https://glygen.org/publication/PubMed/10540230" } ] }, { "title": "An NSF function distinct from ATPase-dependent SNARE disassembly is essential for Golgi membrane fusion.", "journal": "Nature cell biology", "date": "1999", "authors": "Muller JM, Rabouille C, Newman R, Shorter J, Freemont P, Schiavo G, Warren G, Shima DT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807878", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807878" } ], "reference": [ { "type": "PubMed", "id": "10559959", "url": "https://glygen.org/publication/PubMed/10559959" } ] }, { "title": "Evidence for a COP-I-independent transport route from the Golgi complex to the endoplasmic reticulum.", "journal": "Nature cell biology", "date": "1999", "authors": "Girod A, Storrie B, Simpson JC, Johannes L, Goud B, Roberts LM, Lord JM, Nilsson T, Pepperkok R", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811436", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811436" } ], "reference": [ { "type": "PubMed", "id": "10559986", "url": "https://glygen.org/publication/PubMed/10559986" } ] }, { "title": "Rab6 coordinates a novel Golgi to ER retrograde transport pathway in live cells.", "journal": "The Journal of cell biology", "date": "1999", "authors": "White J, Johannes L, Mallard F, Girod A, Grill S, Reinsch S, Keller P, Tzschaschel B, Echard A, Goud B, Stelzer EH", "evidence": [ { "database": "Reactome", "id": "R-HSA-6811436", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811436" } ], "reference": [ { "type": "PubMed", "id": "10562278", "url": "https://glygen.org/publication/PubMed/10562278" } ] }, { "title": "The leucine-based sorting motifs in the cytoplasmic domain of the invariant chain are recognized by the clathrin adaptors AP1 and AP2 and their medium chains.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Hofmann MW, Honing S, Rodionov D, Dobberstein B, von Figura K, Bakke O", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10593899", "url": "https://glygen.org/publication/PubMed/10593899" } ] }, { "title": "X-ray structure determination of human profilin II: A comparative structural analysis of human profilins.", "journal": "Journal of molecular biology", "date": "1999", "authors": "Nodelman IM, Bowman GD, Lindberg U, Schutt CE", "evidence": [ { "database": "Reactome", "id": "R-HSA-5663220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5663220" } ], "reference": [ { "type": "PubMed", "id": "10600384", "url": "https://glygen.org/publication/PubMed/10600384" } ] }, { "title": "Activation of the MAPK signal cascade by the neural cell adhesion molecule L1 requires L1 internalization.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Schaefer AW, Kamiguchi H, Wong EV, Beach CM, Landreth G, Lemmon V", "evidence": [ { "database": "Reactome", "id": "R-HSA-437239", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-437239" } ], "reference": [ { "type": "PubMed", "id": "10608864", "url": "https://glygen.org/publication/PubMed/10608864" } ] }, { "title": "HIV-I TAT inhibits PKR activity by both RNA-dependent and RNA-independent mechanisms.", "journal": "Archives of biochemistry and biophysics", "date": "2000-01-15", "authors": "Cai R, Carpick B, Chun R F, Jeang K T, Williams B R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833482" } ], "reference": [ { "type": "PubMed", "id": "10620360", "url": "https://glygen.org/publication/PubMed/10620360" } ] }, { "title": "JNK2 and IKKbeta are required for activating the innate response to viral infection.", "journal": "Immunity", "date": "1999-12", "authors": "Chu W M, Ostertag D, Li Z W, Chang L, Chen Y, Hu Y, Williams B, Perrault J, Karin M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9833482", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9833482" } ], "reference": [ { "type": "PubMed", "id": "10626894", "url": "https://glygen.org/publication/PubMed/10626894" } ] }, { "title": "Proteases involved in MHC class II antigen presentation.", "journal": "Immunological reviews", "date": "1999", "authors": "Villadangos JA, Bryant RA, Deussing J, Driessen C, Lennon-Dumenil AM, Riese RJ, Roth W, Saftig P, Shi GP, Chapman HA, Peters C, Ploegh HL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2132295", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2132295" } ], "reference": [ { "type": "PubMed", "id": "10631941", "url": "https://glygen.org/publication/PubMed/10631941" } ] }, { "title": "The impact of the non-classical MHC proteins HLA-DM and HLA-DO on loading of 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