{ "uniprot_canonical_ac": "O60762-1", "uniprot_ac": "O60762", "uniprot_id": "DPM1_HUMAN", "mass": { "chemical_mass": 29634.0, "monoisotopic_mass": 29634.0 }, "refseq": { "ac": "NP_001303963", "name": "dolichol-phosphate mannosyltransferase subunit 1 isoform 1", "summary": "Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. Human DPM1 lacks a carboxy-terminal transmembrane domain and signal sequence and is regulated by DPM2. Mutations in this gene are associated with congenital disorder of glycosylation type Ie. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303963" }, "gene_names": [ { "name": "DPM1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60762", "id": "O60762" }, { "name": "CDGIE; MPDS", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303963", "id": "NP_001303963" }, { "name": "DPM1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303963", "id": "NP_001303963" }, { "name": "hCG_2019397", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60762", "id": "O60762" } ], "protein_names": [ { "name": "Dolichol-phosphate mannosyltransferase subunit 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60762" }, { "name": "2.4.1.83", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60762" }, { "name": "DPM synthase subunit 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60762" }, { "name": "Dolichol-phosphate mannose synthase subunit 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60762" }, { "name": "Dolichyl-phosphate beta-D-mannosyltransferase subunit 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60762" }, { "name": "MPD synthase subunit 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60762" }, { "name": "Mannose-P-dolichol synthase subunit 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60762" }, { "name": "dolichol monophosphate mannose synthase; DPM synthase complex, catalytic subunit; DPM synthase subunit 1; MPD synthase subunit 1; mannose-P-dolichol synthase subunit 1; dolichol-phosphate mannose synthase subunit 1; dolichyl-phosphate beta-D-mannosyltransferase subunit 1; dolichyl-phosphate mannosyltransferase polypeptide 1 catalytic subunit", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303963", "id": "NP_001303963" }, { "name": "dolichol-phosphate mannosyltransferase subunit 1 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303963", "id": "NP_001303963" } ], "function": [ { "annotation": "Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. Human DPM1 lacks a carboxy-terminal transmembrane domain and signal sequence and is regulated by DPM2. Mutations in this gene are associated with congenital disorder of glycosylation type Ie. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_001303963", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303963" } ] }, { "annotation": "Transfers mannose from GDP-mannose to dolichol monophosphate to form dolichol phosphate mannose (Dol-P-Man) which is the mannosyl donor in pathways leading to N-glycosylation, glycosyl phosphatidylinositol membrane anchoring, and O-mannosylation of proteins; catalytic subunit of the dolichol-phosphate mannose (DPM) synthase complex.", "evidence": [ { "database": "UniProtKB", "id": "H0Y368", "url": "https://www.uniprot.org/uniprot/H0Y368#function" }, { "database": "UniProtKB", "id": "ARBA00002636", "url": "https://www.uniprot.org/uniprot/ARBA00002636#function" }, { "database": "UniProtKB", "id": "Q5QPK2", "url": "https://www.uniprot.org/uniprot/Q5QPK2#function" }, { "database": "UniProtKB", "id": "A0A804HJ93", "url": "https://www.uniprot.org/uniprot/A0A804HJ93#function" }, { "database": "UniProtKB", "id": "A0A804HIB3", "url": "https://www.uniprot.org/uniprot/A0A804HIB3#function" }, { "database": "UniProtKB", "id": "O60762", "url": "https://www.uniprot.org/uniprot/O60762#function" }, { "database": "PubMed", "id": "10835346", "url": "https://glygen.org/publication/PubMed/10835346" }, { "database": "UniProtKB", "id": "Q5QPJ9", "url": "https://www.uniprot.org/uniprot/Q5QPJ9#function" }, { "database": "UniProtKB", "id": "A0A804HIK9", "url": "https://www.uniprot.org/uniprot/A0A804HIK9#function" } ] } ], "disease": [ { "disease_id": "DOID:0080557", "recommended_name": { "id": "DOID:0080557", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080557", "name": "congenital disorder of glycosylation Ie", "description": "A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the DPM1 gene on chromosome 20q13." }, "synonyms": [ { "id": "DOID:0080557", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080557", "name": "congenital disorder of glycosylation 1e", "description": "" }, { "id": "MONDO:0012123", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012123", "name": "congenital disorder of glycosylation type 1E", "description": "The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common." }, { "id": "MONDO:0012123", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012123", "name": "CDG syndrome type Ie", "description": "" }, { "id": "MONDO:0012123", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012123", "name": "CDG-Ie", "description": "" }, { "id": "MONDO:0012123", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012123", "name": "CDG1E", "description": "" }, { "id": "MONDO:0012123", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012123", "name": "CDGIe", "description": "" }, { "id": "MONDO:0012123", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012123", "name": "DPM1 congenital disorder of glycosylation", "description": "" }, { "id": "MONDO:0012123", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012123", "name": "Dol-P-mannosyltransferase deficiency", "description": "" }, { "id": "MONDO:0012123", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012123", "name": "carbohydrate deficient glycoprotein syndrome type Ie", "description": "" }, { "id": "MONDO:0012123", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012123", "name": "congenital disorder of glycosylation caused by mutation in DPM1", "description": "" }, { "id": "MONDO:0012123", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012123", "name": "congenital disorder of glycosylation type 1E", "description": "" }, { "id": "MONDO:0012123", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012123", "name": "congenital disorder of glycosylation type 1e", "description": "" }, { "id": "MONDO:0012123", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012123", "name": "congenital disorder of glycosylation type Ie", "description": "" }, { "id": "MONDO:0012123", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012123", "name": "CDG 1E", "description": "" }, { "id": "MONDO:0012123", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012123", "name": "CDG Ie", "description": "" }, { "id": "MONDO:0012123", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012123", "name": "DPM1-CDG", "description": "" }, { "id": "MONDO:0012123", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012123", "name": "DPM1-CDG (CDG-Ie)", "description": "" }, { "id": "MONDO:0012123", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012123", "name": "carbohydrate-deficient glycoprotein syndrome type 1E", "description": "" }, { "id": "MONDO:0012123", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012123", "name": "congenital disorder of glycosylation, type Ie", "description": "" }, { "id": "MIM:608799", "resource": "MIM", "url": "https://www.omim.org/entry/608799", "name": "Congenital disorder of glycosylation 1E", "description": "Congenital disorder of glycosylation 1E" } ], "evidence": [ { "id": "0012123", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012123" }, { "id": "608799", "database": "MIM", "url": "https://www.omim.org/entry/608799" }, { "id": "DPM1", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/DPM1/#!details" }, { "id": "8813", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/8813#disease" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "91.51", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000000419", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000000419" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "97.4", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000000419", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000000419" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "88.59", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000000419", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000000419" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "92.45", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000000419", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000000419" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "95.61", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000000419", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000000419" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "95.89", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000000419", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000000419" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "90.06", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000000419", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000000419" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "94.88", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000000419", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000000419" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "93.97", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000000419", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000000419" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "89.98", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000000419", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000000419" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "92.67", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000000419", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000000419" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "92.65", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000000419", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000000419" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "94.44", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000000419", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000000419" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O60762", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60762" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "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": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O60762", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60762" } ], "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", 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"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": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O60762", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60762" } ], "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": 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"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": "O60762", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60762" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ 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": "O60762", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60762" } ], "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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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O60762", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60762" } ], "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 of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "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" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O60762", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60762" } ], "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", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O60762", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60762" } ], "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": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O60762", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60762" } ], "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", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60762" } ], "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", "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": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O60762", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60762" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is 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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"https://www.uniprot.org/uniprot/A0A804HIB3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HIB3-1", "url": "https://www.uniprot.org/uniprot/A0A804HIB3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HIK9", "url": "https://www.uniprot.org/uniprot/A0A804HIK9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HIK9-1", "url": "https://www.uniprot.org/uniprot/A0A804HIK9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HJ93", "url": "https://www.uniprot.org/uniprot/A0A804HJ93", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HJ93-1", "url": "https://www.uniprot.org/uniprot/A0A804HJ93-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y368", "url": "https://www.uniprot.org/uniprot/H0Y368", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y368-1", "url": "https://www.uniprot.org/uniprot/H0Y368-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60762", "url": "https://www.uniprot.org/uniprot/O60762", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60762-1", "url": "https://www.uniprot.org/uniprot/O60762-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5QPJ9", "url": "https://www.uniprot.org/uniprot/Q5QPJ9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5QPJ9-1", "url": "https://www.uniprot.org/uniprot/Q5QPJ9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5QPK2", "url": "https://www.uniprot.org/uniprot/Q5QPK2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5QPK2-1", "url": "https://www.uniprot.org/uniprot/Q5QPK2-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MASLEVSRSPRRSRRELEVRSPRQNKYSVLLPTYNERENLPLIVWLLVKSFSESGINYEIIIIDDGSPDGTRDVAEQLEKIYGSDRILLRPREKKLGLGTAYIHGMKHATGNYIIIMDADLSHHPKFIPEFIRKQKEGNFDIVSGTRYKGNGGVYGWDLKRKIISRGANFLTQILLRPGASDLTGSFRLYRKEVLEKLIEKCVSKGYVFQMEMIVRARQLNYTIGEVPISFVDRVYGESKLGGNEIVSFLKGLLTLFATT", "length": 260, "header": "sp|O60762-1|DPM1_HUMAN Isoform 1 of Dolichol-phosphate mannosyltransferase subunit 1 OS=Homo sapiens OX=9606 GN=DPM1 PE=1 SV=1 CANONICAL=O60762-1" }, "isoforms": [ { "isoform_ac": "A0A804HIB3-1", "url": "", "sequence": { "sequence": "MASLEVSRSPRRSRRELEVRSPRQNKYSVLLPTYNERENLPLIVWLLVKSFSESGINYEIIIIDDGSPDGTRDVAEQLEKIYGSDRILLRPREKKLGLGTAYIHGMKHATGNYIIIMDADLSHHEAKGG", "length": 129, "header": "tr|A0A804HIB3-1|DPM1_HUMAN Computationally mapped isoform of Dolichol-phosphate mannosyltransferase subunit 1 OS=Homo sapiens OX=9606 GN=DPM1 PE=1 SV=1 CANONICAL=O60762-1" }, "locus": { "chromosome": "20", "start_pos": 50958523, "end_pos": 50942112, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000683048.1", "url": "https://www.ensembl.org/id/ENST00000683048.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000506986.1", "url": "https://www.ensembl.org/id/ENSP00000506986.1" } ] } }, { "isoform_ac": "A0A804HIK9-1", "url": "", "sequence": { "sequence": "MASLEVSRSPRRSRRELEVRSPRQNKYSVLLPTYNERENLPLIVWLLVKSFSESGINYEIIIIDDGSPDGTRDVAEQLEKIYGSDRILLRPREKKLGLGTAYIHGMKHATGNYIIIMDADLSHHPKFIPEFIRKQKEGNFDIVSGTRYKGNGGVYGWDLKRKIIRSDCFIWQPWGQFFNSDLAETRSI", "length": 188, "header": "tr|A0A804HIK9-1|A0A804HIK9_HUMAN Computationally mapped isoform of Dolichol-phosphate mannosyltransferase subunit 1 OS=Homo sapiens OX=9606 GN=DPM1 PE=1 SV=1 CANONICAL=O60762-1" }, "locus": { "chromosome": "20", "start_pos": 50958523, "end_pos": 50940886, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000466152.5", "url": "https://www.ensembl.org/id/ENST00000466152.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000507119.1", "url": "https://www.ensembl.org/id/ENSP00000507119.1" } ] } }, { "isoform_ac": "A0A804HJ93-1", "url": "", "sequence": { "sequence": "MKHATGNYIIIMDADLSHHPKFIPEFIRKQKEGNFDIVSGTRYKGNGGVYGWDLKRKIIRLYRKEVLEKLIEKCVSKGYVFQMEMIVRARQLNYTIGEVPISFVDRVYGESKLGGNEIVSFLKGLLTLFATT", "length": 132, "header": "tr|A0A804HJ93-1|DPM1_HUMAN Computationally mapped isoform of Dolichol-phosphate mannosyltransferase subunit 1 OS=Homo sapiens OX=9606 GN=DPM1 PE=1 SV=1 CANONICAL=O60762-1" }, "locus": { "chromosome": "20", "start_pos": 50945903, "end_pos": 50935135, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000683466.1", "url": "https://www.ensembl.org/id/ENST00000683466.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000507404.1", "url": "https://www.ensembl.org/id/ENSP00000507404.1" } ] } }, { "isoform_ac": "H0Y368-1", "url": "", "sequence": { "sequence": "MASLEVSRSPRRSRRELEVRSPRQNKYSVLLPTYNERENLPLIVWLLVKSFSESGINYEIIIIDDGSPDGTRDVAEQLEKIYGSDRILLRPREKKLGLGTAYIHGMKHATGNYIIIMDADLSHHPKFIPEFIRKQKEGNFDIVSGTRYKGNGGVYGWDLKRKIISDGVLPCCPGWSLLGSSDPAILASWDYRCEPPRLASRGANFLTQILLRPGASDLTGSFRLYRKEVLEKLIEKCVSKGYVFQMEMIVRARQLNYTIGEVPISFVDRVYGESKLGGNEIVSFLKGLLTLFATT", "length": 295, "header": "tr|H0Y368-1|DPM1_HUMAN Computationally mapped isoform of Dolichol-phosphate mannosyltransferase subunit 1 OS=Homo sapiens OX=9606 GN=DPM1 PE=1 SV=2 CANONICAL=O60762-1" }, "locus": { "chromosome": "20", "start_pos": 50958523, "end_pos": 50935135, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000371584.9", "url": "https://www.ensembl.org/id/ENST00000371584.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000360640.5", "url": "https://www.ensembl.org/id/ENSP00000360640.5" } ] } }, { "isoform_ac": "O60762-1", "url": "", "sequence": { "sequence": "MASLEVSRSPRRSRRELEVRSPRQNKYSVLLPTYNERENLPLIVWLLVKSFSESGINYEIIIIDDGSPDGTRDVAEQLEKIYGSDRILLRPREKKLGLGTAYIHGMKHATGNYIIIMDADLSHHPKFIPEFIRKQKEGNFDIVSGTRYKGNGGVYGWDLKRKIISRGANFLTQILLRPGASDLTGSFRLYRKEVLEKLIEKCVSKGYVFQMEMIVRARQLNYTIGEVPISFVDRVYGESKLGGNEIVSFLKGLLTLFATT", "length": 260, "header": "sp|O60762-1|DPM1_HUMAN Isoform 1 of Dolichol-phosphate mannosyltransferase subunit 1 OS=Homo sapiens OX=9606 GN=DPM1 PE=1 SV=1 CANONICAL=O60762-1" }, "locus": { "chromosome": "20", "start_pos": 50958523, "end_pos": 50935135, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000371588.10", "url": "https://www.ensembl.org/id/ENST00000371588.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000360644.5", "url": "https://www.ensembl.org/id/ENSP00000360644.5" } ] } }, { "isoform_ac": "Q5QPJ9-1", "url": "", "sequence": { "sequence": "MASLEVSRSPRRSRRELEVRSPRQNKYSVLLPTYNERENLPLIVWLLVKSFSESGINYEIIIIDDGSPDGTRDVAEQLEKIYGSDRILLRPREKKLGLGTAYIHGMKHATGNYIIIMDADLSHHPKFIPEFISDGVLPCCPGWSLLGSSDPAILASWDYSRGANFLTQILLRPGASDLTGSFRLYRKEVLEKLIEKCVSKGYVFQMEMIVRARQLNYTIGE", "length": 221, "header": "tr|Q5QPJ9-1|DPM1_HUMAN Computationally mapped isoform of Dolichol-phosphate mannosyltransferase subunit 1 OS=Homo sapiens OX=9606 GN=DPM1 PE=1 SV=2 CANONICAL=O60762-1" }, "locus": { "chromosome": "20", "start_pos": 50958523, "end_pos": 50936148, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000413082.1", "url": "https://www.ensembl.org/id/ENST00000413082.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000394921.1", "url": "https://www.ensembl.org/id/ENSP00000394921.1" } ] } }, { "isoform_ac": "Q5QPK2-1", "url": "", "sequence": { "sequence": "MASLEVSRSPRRSRRELEVRSPRQNKYSVLLPTYNERENLPLIVWLLVKSFSESGINYEIIIIDDGSPDGTRDVAEQLEKIYGSDRILLRPREKKLGLGTAYIHGMKHATGNYIIIMDADLSHHPKFIPEFIRKQKEGNFDIVSGTRYKGNGGVYGWDLKRKIISDGVLPCCPGWSLLGSSDPAILASWDYSRGANFLTQILLRPGASDLTGSFRLYRKEVLEKLIEKCVSKGYVFQMEMIVRARQLNYTIGEVPISFVDRVYGESKLGGNEIVSFLKGLLTLFATT", "length": 287, "header": "tr|Q5QPK2-1|DPM1_HUMAN Computationally mapped isoform of Dolichol-phosphate mannosyltransferase subunit 1 OS=Homo sapiens OX=9606 GN=DPM1 PE=1 SV=1 CANONICAL=O60762-1" }, "locus": { "chromosome": "20", "start_pos": 50958523, "end_pos": 50935135, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000371582.8", "url": "https://www.ensembl.org/id/ENST00000371582.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000360638.4", "url": "https://www.ensembl.org/id/ENSP00000360638.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O60762", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60762" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" } ] } ], "phosphorylation": [ { "start_pos": 21, "end_pos": 21, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60762", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60762" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser21" }, { "start_pos": 3, "end_pos": 3, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60762", "url": "https://www.uniprot.org/uniprot/O60762" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O60762", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60762" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" } ], "site_lbl": "Ser3" }, { "start_pos": 7, "end_pos": 7, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60762", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60762" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" }, { "database": "phospho.ELM", "id": "O60762", "url": "http://phospho.elm.eu.org/byAccession/O60762.html" } ], "site_lbl": "Ser7" }, { "start_pos": 9, "end_pos": 9, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60762", "url": "https://www.uniprot.org/uniprot/O60762" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "O60762", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60762" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18578522", "url": "https://glygen.org/publication/PubMed/18578522" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" }, { "database": "phospho.ELM", "id": "O60762", "url": "http://phospho.elm.eu.org/byAccession/O60762.html" } ], "site_lbl": "Ser9" } ], "glycation": [], "keywords": [ "enzyme", "glycosyltransferase-activity", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)", "journal": "The Journal of clinical investigation", "date": "2000", "authors": "Kim S, Westphal V, Srikrishna G, Mehta DP, Peterson S, Filiano J, Karnes PS, Patterson MC, Freeze HH", "evidence": [ { "database": "UniProtKB", "id": "O60762", "url": "https://www.uniprot.org/uniprot/O60762" }, { "database": "Reactome", "id": "R-HSA-4717374", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4717374" } ], "reference": [ { "type": "PubMed", "id": "10642597", "url": "https://glygen.org/publication/PubMed/10642597" } ] }, { "title": "Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie.", "journal": "The Journal of clinical investigation", "date": "2000", "authors": "Imbach T, Schenk B, Schollen E, Burda P, Stutz A, Grunewald S, Bailie NM, King MD, Jaeken J, Matthijs G, Berger EG, Aebi M, Hennet T", "evidence": [ { "database": "UniProtKB", "id": "O60762", "url": "https://www.uniprot.org/uniprot/O60762" }, { "database": "Reactome", "id": "R-HSA-4717374", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4717374" } ], "reference": [ { "type": "PubMed", "id": "10642602", "url": "https://glygen.org/publication/PubMed/10642602" } ] }, { "title": "Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3.", "journal": "The EMBO journal", "date": "2000", "authors": "Maeda Y, Tanaka S, Hino J, Kangawa K, Kinoshita T", "evidence": [ { "database": "UniProtKB", "id": "O60762", "url": "https://www.uniprot.org/uniprot/O60762" }, { "database": "Reactome", "id": "R-HSA-162699", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-162699" } ], "reference": [ { "type": "PubMed", "id": "10835346", "url": "https://glygen.org/publication/PubMed/10835346" } ] }, { "title": "Congenital disorder of glycosylation (CDG) type Ie. A new patient.", "journal": "Journal of inherited metabolic disease", "date": "2004", "authors": "Garcia-Silva MT, Matthijs G, Schollen E, Cabrera JC, Sanchez del Pozo J, Marti Herreros M, Simon R, Maties M, Martin Hernandez E, Hennet T, Briones P", "evidence": [ { "database": "UniProtKB", "id": "O60762", "url": "https://www.uniprot.org/uniprot/O60762" }, { "database": "Reactome", "id": "R-HSA-4717374", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4717374" } ], "reference": [ { "type": "PubMed", "id": "15669674", "url": "https://glygen.org/publication/PubMed/15669674" } ] }, { "title": "DPM1, the catalytic subunit of dolichol-phosphate mannose synthase, is tethered to and stabilized on the endoplasmic reticulum membrane by DPM3.", "journal": "J. Biol. Chem.", "date": "2006", "authors": "Ashida H, Maeda Y, Kinoshita T", "evidence": [ { "database": "UniProtKB", "id": "O60762", "url": "https://www.uniprot.org/uniprot/O60762" } ], "reference": [ { "type": "PubMed", "id": "16280320", "url": "https://glygen.org/publication/PubMed/16280320" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5QPJ9", "url": "https://www.uniprot.org/uniprot/Q5QPJ9" }, { "database": "iPTMnet", "id": "O60762", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60762" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "TiO(2)-based phosphoproteomic analysis of the plasma membrane and the effects of phosphatase inhibitor treatment.", "journal": "Journal of proteome research", "date": "2008", "authors": "Thingholm TE, Larsen MR, Ingrell CR, Kassem M, Jensen ON", "evidence": [ { "database": "iPTMnet", "id": "O60762", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60762" } ], "reference": [ { "type": "PubMed", "id": "18578522", "url": "https://glygen.org/publication/PubMed/18578522" } ] }, { "title": "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.", "journal": "Mol. Cell", "date": "2008", "authors": "Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5QPJ9", "url": "https://www.uniprot.org/uniprot/Q5QPJ9" }, { "database": "iPTMnet", "id": "O60762", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60762" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] }, { "title": "Evaluation of the low-specificity protease elastase for large-scale phosphoproteome analysis.", "journal": "Analytical chemistry", "date": "2008", "authors": "Wang B, Malik R, Nigg EA, Korner R", "evidence": [ { "database": "iPTMnet", "id": "O60762", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60762" } ], "reference": [ { "type": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" } ] }, { "title": "Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies.", "journal": "Am. J. Hum. Genet.", "date": "2009", "authors": "Lefeber DJ, Schonberger J, Morava E, Guillard M, Huyben KM, Verrijp K, Grafakou O, Evangeliou A, Preijers FW, Manta P, Yildiz J, Grunewald S, Spilioti M, van den Elzen C, Klein D, Hess D, Ashida H, Hofsteenge J, Maeda Y, van den Heuvel L, Lammens M, Lehle L, Wevers RA", "evidence": [ { "database": "UniProtKB", "id": "O60762", "url": "https://www.uniprot.org/uniprot/O60762" }, { "database": "Reactome", "id": "R-HSA-4719360", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4719360" } ], "reference": [ { "type": "PubMed", "id": "19576565", "url": "https://glygen.org/publication/PubMed/19576565" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O60762", "url": 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F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60762", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60762" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "Human and Saccharomyces cerevisiae dolichol phosphate mannose synthases represent two classes of the enzyme, but both function in Schizosaccharomyces pombe.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1997", "authors": "Colussi PA, Taron CH, Mack JC, Orlean P", "evidence": [ { "database": "UniProtKB", "id": "O60762", "url": "https://www.uniprot.org/uniprot/O60762" } ], "reference": [ { "type": "PubMed", "id": "9223280", "url": "https://glygen.org/publication/PubMed/9223280" } ] }, { "title": "A homologue of Saccharomyces cerevisiae Dpm1p is not sufficient for synthesis of dolichol-phosphate-mannose in mammalian cells.", "journal": "J. Biol. Chem.", "date": "1998", "authors": "Tomita S, Inoue N, Maeda Y, Ohishi K, Takeda J, Kinoshita T", "evidence": [ { "database": "UniProtKB", "id": "O60762", "url": "https://www.uniprot.org/uniprot/O60762" } ], "reference": [ { "type": "PubMed", "id": "9535917", "url": "https://glygen.org/publication/PubMed/9535917" } ] }, { "title": "DPM2 regulates biosynthesis of dolichol phosphate-mannose in mammalian cells: correct subcellular localization and stabilization of DPM1, and binding of dolichol phosphate.", "journal": "The EMBO journal", "date": "1998", "authors": "Maeda Y, Tomita S, Watanabe R, Ohishi K, Kinoshita T", "evidence": [ { "database": "Reactome", "id": "R-HSA-4719377", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4719377" } ], "reference": [ { "type": "PubMed", "id": "9724629", "url": "https://glygen.org/publication/PubMed/9724629" } ] } ], "pathway": [ { "id": "hsa:8813", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8813", "resource": "KEGG Pathway" }, { "id": "R-HSA-162699", "name": "Synthesis of dolichyl-phosphate mannose", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-162699", "resource": "Reactome", "description": "Synthesis of dolichyl-phosphate mannose" }, { "id": "R-HSA-4717374", "name": "Defective DPM1 causes DPM1-CDG", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4717374", "resource": "Reactome", "description": "Defective DPM1 causes DPM1-CDG" }, { "id": "R-HSA-4719360", "name": "Defective DPM3 causes DPM3-CDG", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4719360", "resource": "Reactome", "description": "Defective DPM3 causes DPM3-CDG" }, { "id": "R-HSA-4719377", "name": "Defective DPM2 causes DPM2-CDG", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4719377", "resource": "Reactome", "description": "Defective DPM2 causes DPM2-CDG" } ], "orthologs": [ { "uniprot_canonical_ac": "A5GFZ5-1", "protein_name": "Dolichol-phosphate mannosyltransferase subunit 1", "gene_name": "DPM1", "tax_id": 9823, "organism": "Sus scrofa", "sequence": { "sequence": "MASEEASRNSRSRWEPEGRFPRQDKYSVLLPTYNERENLPLIVWLLVKSFSESGINYEIIIIDDGSPDGTRDIAEQLVKIYGSDKILLRPREKKLGLGTAYIHGMKHATGNYIIIMDADLSHHPKFIPEFIRKQKEGNFDIVSGTRYKGNGGVYGWDLKRKIISRGANFITQILLRPGASDLTGSFRLYRKEVLQKLIEKCVSKGYVFQMEMIVRARQLNYTIGEVPISFVDRVYGESKLGGNEIVSFLKGLLTLFATT", "length": 259 }, "evidence": [ { "id": "O60762", "url": "https://omabrowser.org/oma/group/O60762/", "database": "OMA" } ], "common_name": "Pig" }, { "uniprot_canonical_ac": "D4A8N1-1", "protein_name": "Dolichol-phosphate mannosyltransferase subunit 1", "gene_name": "Dpm1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MASTGASRSLAASQRPPQGRSSRQDKYSVLLPTYNERENLPLIVWLLVKSFSESAINYEIIIIDDGSPDGTREVAEQLEKIYGPDRILLRPREKKLGLGTAYIHGIKHATGNYVIIMDADLSHHPKFIPEFIRKQKEGNFDIVSGTRYKGNGGVYGWDLKRKIISRGANFITQILLRPGASDLTGSFRLYRKEVLQKLIEKCVSKGYVFQMEMIVRARQMDYTVGEVPISFVDRVYGESKLGGNEIVSFLKGLLTLFATT", "length": 260 }, "evidence": [ { "id": "45929265", "url": "http://www.informatics.jax.org/homology/45929265", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "O70152-1", "protein_name": "Dolichol-phosphate mannosyltransferase subunit 1", "gene_name": "Dpm1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MASTGASRSLAASPRPPQGRSSRQDKYSVLLPTYNERENLPLIVWLLVKSFSESAINYEIIIIDDGSPDGTREVAEQLAEIYGPDRILLRPREKKLGLGTAYIHGIKHATGNYVIIMDADLSHHPKFIPEFIRKQKEGNFDIVSGTRYKGNGGVYGWDLKRKIISRGANFITQILLRPGASDLTGSFRLYRKEVLQKLIEKCVSKGYVFQMEMIVRARQMNYTIGEVPISFVDRVYGESKLGGNEIVSFLKGLLTLFATT", "length": 260 }, "evidence": [ { "id": "45929265", "url": "http://www.informatics.jax.org/homology/45929265", "database": "MGI" }, { "id": "O60762", "url": "https://omabrowser.org/oma/group/O60762/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9VIU7-1", "protein_name": "Dolichol-phosphate mannosyltransferase subunit 1", "gene_name": "Dpm1", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MPTNGHKYSILMPTYNEKDNLPIIIWLIVKYMKASGLEYEVIVIDDGSPDGTLDVAKDLQKIYGEDKIVLRPRGSKLGLGTAYIHGIKHATGDFIVIIDADLSHHPKFIPEFIKLQQEGNYDIVSGTRYAGNGGVFGWDFKRKLISRGANFLSQVLLRPNASDLTGSFRLYKKDVLEKCIASCVSKGYVFQMEMLVRARQHGYTIAEVPITFVDRIYGTSKLGGTEIIQFAKNLLYLFATT", "length": 241 }, "evidence": [ { "id": "O60762", "url": "https://omabrowser.org/oma/group/O60762/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 5, "go_terms": [ { "name": "dolichyl-phosphate beta-D-mannosyltransferase activity", "id": "GO:0004582", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004582", "evidence": [ { "database": "UniProtKB", "id": "O60762", "url": "https://www.uniprot.org/uniprot/O60762" } ], "pmid": "" }, { "name": "dolichyl-phosphate-mannose-protein mannosyltransferase activity", "id": "GO:0004169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004169", "evidence": [ { "database": "UniProtKB", "id": "O60762", "url": "https://www.uniprot.org/uniprot/O60762" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "O60762", "url": "https://www.uniprot.org/uniprot/O60762" } ], "pmid": "" }, { "name": "mannose binding", "id": "GO:0005537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005537", "evidence": [ { "database": "UniProtKB", "id": "O60762", "url": "https://www.uniprot.org/uniprot/O60762" } ], "pmid": "" }, { "name": "alcohol binding", "id": "GO:0043178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043178", "evidence": [ { "database": "UniProtKB", "id": "O60762", "url": "https://www.uniprot.org/uniprot/O60762" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "O60762", "url": "https://www.uniprot.org/uniprot/O60762" } ], "pmid": "" }, { "name": "dolichol-phosphate-mannose synthase complex", "id": "GO:0033185", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033185", "evidence": [ { "database": "UniProtKB", "id": "O60762", "url": "https://www.uniprot.org/uniprot/O60762" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O60762", "url": "https://www.uniprot.org/uniprot/O60762" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O60762", "url": "https://www.uniprot.org/uniprot/O60762" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "O60762", "url": "https://www.uniprot.org/uniprot/O60762" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 8, "go_terms": [ { "name": "protein glycosylation", "id": "GO:0006486", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006486", "evidence": [ { "database": "UniProtKB", "id": "O60762", "url": "https://www.uniprot.org/uniprot/O60762" } ], "pmid": "" }, { "name": "GDP-mannose metabolic process", "id": "GO:0019673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019673", "evidence": [ { "database": "UniProtKB", "id": "O60762", "url": "https://www.uniprot.org/uniprot/O60762" } ], "pmid": "" }, { "name": "dolichol metabolic process", "id": "GO:0019348", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019348", "evidence": [ { "database": "UniProtKB", "id": "O60762", "url": "https://www.uniprot.org/uniprot/O60762" } ], "pmid": "" }, { "name": "protein mannosylation", "id": "GO:0035268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035268", "evidence": [ { "database": "UniProtKB", "id": "O60762", "url": "https://www.uniprot.org/uniprot/O60762" } ], "pmid": "" }, { "name": "dolichol-linked oligosaccharide biosynthetic process", "id": "GO:0006488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006488", "evidence": [ { "database": "UniProtKB", "id": "O60762", "url": "https://www.uniprot.org/uniprot/O60762" } ], "pmid": "" }, { "name": "protein N-linked glycosylation via asparagine", "id": "GO:0018279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018279", "evidence": [ { "database": "UniProtKB", "id": "O60762", "url": "https://www.uniprot.org/uniprot/O60762" } ], "pmid": "" }, { "name": "protein O-linked mannosylation", "id": "GO:0035269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035269", "evidence": [ { "database": "UniProtKB", "id": "O60762", "url": "https://www.uniprot.org/uniprot/O60762" } ], "pmid": "" }, { "name": "GPI anchor biosynthetic process", "id": "GO:0006506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006506", "evidence": [ { "database": "UniProtKB", "id": "O60762", "url": "https://www.uniprot.org/uniprot/O60762" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 221, "end_pos": 223, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "21184", "name": "", "equation": "a dolichyl phosphate + GDP-alpha-D-mannose = a dolichyl beta-D-mannosyl phosphate + GDP", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "D4A8N1-1", "O60762-1", "O70152-1", "P14020-1", "Q54LP3-1", "Q9VIU7-1" ], "evidence": [ { "id": "21184", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/21184" } ] }, { "id": "R-HSA-162721", "name": "dolichyl phosphate + GDP-alpha-D-mannose -> dolichyl phosphate D-mannose", "equation": "", "summary": "Cytosolic GDP-mannose reacts with dolichyl phosphate in the endoplasmic reticulum membrane to form dolichyl phosphate D-mannose (DOLPman). The reaction is catalysed by dolichyl-phosphate mannosyltransferase, a heterotrimeric protein embedded in the endoplasmic reticulum membrane. The first subunit of the heterotrimer (DPM1) appears to be the actual catalyst, and the other two subunits appear to stabilise it (Maeda et al. 2000).", "cellular_location": "endoplasmic reticulum membrane", "input_participant_list": [], "output_participant_list": [ "R-ALL-162681" ], "enzyme_list": [ "O60762-1" ], "evidence": [ { "id": "R-HSA-162721", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-162721" } ] }, { "id": "R-HSA-4717406", "name": "Defective DPM1 does not transfer mannose to DOLP to form DOLPman", "equation": "", "summary": "Dolichyl-phosphate mannosyltransferase (DPM), a heterotrimeric protein embedded in the endoplasmic reticulum membrane, mediates the transfer of mannose (from cytosolic GDP-mannose) to dolichyl phosphate (DOLP), to form dolichyl-phosphate-mannose (DOLPman). The first subunit of the heterotrimer (DPM1) appears to be the actual catalyst, and the other two subunits (DPM2 and 3) appear to stabilise it (Maeda et al. 2000). Defects in DPM1 can cause congenital disorder of glycosylation 1e (DPM1-CDG, CDG-1e; MIM:608799), a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterised by under-glycosylated serum glycoproteins (Kim et al. 2000, Imbach et al. 2000, Garcia-Silva et al. 2004). Frameshift mutations that can cause DPM1-CDG are G111Lfs*45, Q210Rfs*4 as well as the point mutation R92G (Kim et al. 2000, Imbach et al. 2000).", "cellular_location": "cytosol, endoplasmic reticulum membrane, integral component of cytoplasmic side of endoplasmic reticulum membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O60762-1" ], "evidence": [ { "id": "R-HSA-4717406", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4717406" } ] }, { "id": "R-HSA-4719354", "name": "Defective DPM3 does not transfer mannose to DOLP to form DOLPman", "equation": "", "summary": "Dolichyl-phosphate mannosyltransferase (DPM), a heterotrimeric protein embedded in the endoplasmic reticulum membrane, mediates the transfer of mannose (from cytosolic GDP-mannose) to dolichyl phosphate (DOLP) to form dolichyl-phosphate-mannose (DOLPman). The first subunit of the heterotrimer (DPM1) appears to be the actual catalyst, and the other two subunits (DPM2 and 3) appear to stabilise it (Maeda et al. 2000). Defects in DPM3 can cause congenital disorder of glycosylation 1o (DPM3-CDG, CDG1o; MIM:612937), a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterised by under-glycosylated serum glycoproteins. CDG type 1 diseases result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency (Lefeber et al. 2009). Normally, the DPM3 subunit tethers the catalytic DPM1 subunit to the ER membrane. A homozygous 254T-C transition in the DPM3 gene results in a leu85-to-ser (L85S) substitution in a highly conserved residue in the coiled-coil domain. This mutant shows a reduced binding capacity to DPM1 which vastly reduces dolichyl-phosphate mannosyltransferase activity and therefore little or no DOLPman is formed (Lefeber et al. 2009).", "cellular_location": "cytosol, endoplasmic reticulum membrane, integral component of cytoplasmic side of endoplasmic reticulum membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O60762-1" ], "evidence": [ { "id": "R-HSA-4719354", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4719354" } ] }, { "id": "R-HSA-4719375", "name": "Defective DPM2 does not transfer mannose to DOLP to form DOLPman", "equation": "", "summary": "Dolichyl-phosphate mannosyltransferase (DPM), a heterotrimeric protein embedded in the endoplasmic reticulum membrane, mediates the transfer of mannose (from cytosolic GDP-mannose) to dolichyl phosphate (DOLP) to form dolichyl-phosphate-mannose (DOLPman). The first subunit of the heterotrimer (DPM1) appears to be the actual catalyst, and the other two subunits (DPM2 and 3) appear to stabilise it (Maeda et al. 2000). DPM2 is essential for the ER localisation and stable expression of DPM1 and it enhances binding of the substrate dolichyl phosphate (Maeda et al. 1998). Defects in DPM2 can cause congenital disorder of glycosylation 1u (DPM2-CDG, CDG1u; MIM:615042), a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterised by under-glycosylated serum glycoproteins (Barone et al. 2012). CDG type 1 diseases result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. One mutation, a tyr23-cys (Y23C) substitution at a highly conserved residue encoding a transmembrane domain, can result in the clinical features of DPM2-CDG (Barone et al. 2012).", "cellular_location": "cytosol, endoplasmic reticulum membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O60762-1" ], "evidence": [ { "id": "R-HSA-4719375", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4719375" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-162681", "participant_name": "DOLP-Man [integral component of cytoplasmic side of endoplasmic reticulum membrane]", "crossref": [ { "id": "57523", "database": "ChEBI", "url": "" }, { "id": "000030725012", "database": "ZINC", "url": "" }, { "id": "000064622132", "database": "ZINC", "url": "" }, { "id": "000064622131", "database": "ZINC", "url": "" }, { "id": "000030725012", "database": "ZINC", "url": "" }, { "id": "000064622131", "database": "ZINC", "url": "" }, { "id": "57523", "database": "ChEBI", "url": "" }, { "id": "000064622132", "database": "ZINC", "url": "" }, { "id": "000064622132", "database": "ZINC", "url": "" }, { "id": "57523", "database": "ChEBI", "url": "" }, { "id": "000064622131", "database": "ZINC", "url": "" }, { "id": "000030725012", "database": "ZINC", "url": "" }, { "id": "57523", "database": "ChEBI", "url": "" }, { "id": "000030725012", "database": "ZINC", "url": "" }, { "id": "000064622132", "database": "ZINC", "url": "" }, { "id": "000064622131", "database": "ZINC", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "D4A8N1", "gene_name": "Dpm1", "activity": [ { "ec_number": "2.4.1.83", "activity": "a dolichyl phosphate + GDP-alpha-D-mannose = a dolichyl beta-D-mannosyl phosphate + GDP.", "evidence": [ { "id": "D4A8N1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D4A8N1" } ] }, { "ec_number": "2.4.1.83", "activity": "", "evidence": [ { "id": "D4A8N1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D4A8N1" } ] } ] }, { "uniprot_ac": "O60762", "gene_name": "DPM1", "activity": [ { "ec_number": "2.4.1.83", "activity": "a dolichyl phosphate + GDP-alpha-D-mannose = a dolichyl beta-D-mannosyl phosphate + GDP.", "evidence": [ { "id": "O60762", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60762" } ] }, { "ec_number": "2.4.1.83", "activity": "", "evidence": [ { "id": "O60762", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60762" } ] } ] }, { "uniprot_ac": "O70152", "gene_name": "Dpm1", "activity": [ { "ec_number": "2.4.1.83", "activity": "a dolichyl phosphate + GDP-alpha-D-mannose = a dolichyl beta-D-mannosyl phosphate + GDP.", "evidence": [ { "id": "O70152", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O70152" } ] }, { "ec_number": "2.4.1.83", "activity": "", "evidence": [ { "id": "O70152", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O70152" } ] } ] }, { "uniprot_ac": "P14020", "gene_name": "DPM1", "activity": [ { "ec_number": "2.4.1.83", "activity": "a dolichyl phosphate + GDP-alpha-D-mannose = a dolichyl beta-D-mannosyl phosphate + GDP.", "evidence": [ { "id": "P14020", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14020" } ] }, { "ec_number": "2.4.1.83", "activity": "", "evidence": [ { "id": "P14020", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14020" } ] } ] }, { "uniprot_ac": "Q54LP3", "gene_name": "dpm1", "activity": [ { "ec_number": "2.4.1.83", "activity": "a dolichyl phosphate + GDP-alpha-D-mannose = a dolichyl beta-D-mannosyl phosphate + GDP.", "evidence": [ { "id": "Q54LP3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54LP3" } ] }, { "ec_number": "2.4.1.83", "activity": "", "evidence": [ { "id": "Q54LP3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54LP3" } ] } ] }, { "uniprot_ac": "Q9VIU7", "gene_name": "Dpm1", "activity": [ { "ec_number": "2.4.1.83", "activity": "a dolichyl phosphate + GDP-alpha-D-mannose = a dolichyl beta-D-mannosyl phosphate + GDP.", "evidence": [ { "id": "Q9VIU7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VIU7" } ] }, { "ec_number": "2.4.1.83", "activity": "", "evidence": [ { "id": "Q9VIU7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VIU7" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [ 3, 7, 9, 21 ], "sequon_annotation_sites": [ { "start_pos": 221, "end_pos": 223 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", 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