{ "uniprot_canonical_ac": "O43169-1", "uniprot_ac": "O43169", "uniprot_id": "CYB5B_HUMAN", "mass": { "chemical_mass": 16695.0, "monoisotopic_mass": 16695.0 }, "refseq": { "ac": "NP_085056", "name": "cytochrome b5 type B", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_085056" }, "gene_names": [ { "name": "CYB5B", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43169", "id": "O43169" }, { "name": "CYB5-M; CYPB5M; OMB5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_085056", "id": "NP_085056" }, { "name": "CYB5B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_085056", "id": "NP_085056" }, { "name": "CYB5M", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43169", "id": "O43169" }, { "name": "OMB5", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43169", "id": "O43169" } ], "protein_names": [ { "name": "Cytochrome b5 type B", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43169" }, { "name": "Cytochrome b5 outer mitochondrial membrane isoform", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43169" }, { "name": "cytochrome b5 type B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_085056", "id": "NP_085056" }, { "name": "type 2 cyt-b5; outer mitochondrial membrane cytochrome b5; cytochrome b5 type B (outer mitochondrial membrane)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_085056", "id": "NP_085056" } ], "function": [ { "annotation": "Could be involved in the differential modulation of 17 alpha-hydroxylase and 17,20-lyase activities of P450c17 [type2 cyt-b5]", "evidence": [ { "database": "RefSeq", "id": "NP_085056", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_085056" }, { "database": "PubMed", "id": "11867265", "url": "https://glygen.org/publication/PubMed/11867265" } ] }, { "annotation": "Cytochrome b5 is a membrane-bound hemoprotein functioning as an electron carrier for several membrane-bound oxygenases.", "evidence": [ { "database": "UniProtKB", "id": "O43169", "url": "https://www.uniprot.org/uniprot/O43169#function" } ] }, { "annotation": "The 21 kDa protein overexpressed in Hodgkin Lymphoma and aggressive non-Hodgkin Lymphomas is identical to CYB5B. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_085056", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_085056" }, { "database": "PubMed", "id": "20100355", "url": "https://glygen.org/publication/PubMed/20100355" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "87.88", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000103018", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103018" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "84.14", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000103018", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103018" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "91.43", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000103018", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103018" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "72.72", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000103018", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103018" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "94.55", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000103018", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103018" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "98.42", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000103018", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103018" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "89.92", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000103018", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103018" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "90.74", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000103018", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103018" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "92.28", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000103018", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103018" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "83.86", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000103018", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103018" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "89.83", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000103018", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103018" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "93.17", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000103018", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103018" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "93.05", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000103018", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103018" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O43169", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43169" } ], "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 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"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", 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"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": "" 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"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": 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"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": 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"16", "start_pos": 69462531, "end_pos": 69424684, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000688840.1", "url": "https://www.ensembl.org/id/ENST00000688840.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508590.1", "url": "https://www.ensembl.org/id/ENSP00000508590.1" } ] } }, { "isoform_ac": "A0A8I5KSY3-1", "url": "", "sequence": { "sequence": "MSGSMATAEASGSDGKGQEVETSVTYYRLEEVAKRNSLKELWLVIHGRVYDVTRFLNEHPGGEEVLLEQAGVDASESFEDVGHSSDAREMLKQYYIGDIHPSDLKPESGSKTGS", "length": 114, "header": "tr|A0A8I5KSY3-1|CYB5B_HUMAN Computationally mapped isoform of Cytochrome b5 type B OS=Homo sapiens OX=9606 GN=CYB5B PE=1 SV=1 CANONICAL=O43169-1" }, "locus": { "chromosome": "16", "start_pos": 69456169, "end_pos": 69424684, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000687677.1", "url": "https://www.ensembl.org/id/ENST00000687677.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510192.1", "url": "https://www.ensembl.org/id/ENSP00000510192.1" } ] } }, { "isoform_ac": "A0A8I5KSY8-1", "url": "", "sequence": { "sequence": "MSGSMATAEASGSDGKGQEVETSVTYYRLEEVAKRNSLKELWLVIHGRVYDVTRFLNEHPGGEEVLLEQAGVDASESFEDVGHSSDAREMLKQYYIGDIHPSDLKPESGSKGLDLSSRLEYSGTILAHYSLELLGSGDPPASAFPVLGFTRCEPRTLQKMIHAKVAGHIGFYPS", "length": 174, "header": "tr|A0A8I5KSY8-1|A0A8I5KSY8_HUMAN Computationally mapped isoform of Cytochrome b5 type B OS=Homo sapiens OX=9606 GN=CYB5B PE=1 SV=1 CANONICAL=O43169-1" }, "locus": { "chromosome": "16", "start_pos": 69462458, "end_pos": 69424684, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000692677.1", "url": "https://www.ensembl.org/id/ENST00000692677.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510206.1", "url": "https://www.ensembl.org/id/ENSP00000510206.1" } ] } }, { "isoform_ac": "A0A8I5KVH4-1", "url": "", "sequence": { "sequence": "MLKQYYIGDIHPSDLKPESGSKDPSKNDTCKSCWAYWILPIIGAVLLGFLYRYYTSESKSS", "length": 61, "header": "tr|A0A8I5KVH4-1|CYB5B_HUMAN Computationally mapped isoform of Cytochrome b5 type B OS=Homo sapiens OX=9606 GN=CYB5B PE=1 SV=1 CANONICAL=O43169-1" }, "locus": { "chromosome": "16", "start_pos": 69462517, "end_pos": 69447243, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000686649.1", "url": "https://www.ensembl.org/id/ENST00000686649.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509909.1", "url": "https://www.ensembl.org/id/ENSP00000509909.1" } ] } }, { "isoform_ac": "A0A8I5KX20-1", "url": "", "sequence": { "sequence": "MSGSMATAEASGSDGKGQEVETSVTYYRLEEVAKRNSLKELWLVIHGRVYDVTRFLNESGSVVQA", "length": 65, "header": "tr|A0A8I5KX20-1|A0A8I5KX20_HUMAN Computationally mapped isoform of Cytochrome b5 type B OS=Homo sapiens OX=9606 GN=CYB5B PE=1 SV=1 CANONICAL=O43169-1" }, "locus": { "chromosome": "16", "start_pos": 69430264, "end_pos": 69424684, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000693607.1", "url": "https://www.ensembl.org/id/ENST00000693607.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510139.1", "url": "https://www.ensembl.org/id/ENSP00000510139.1" } ] } }, { "isoform_ac": "A0A8I5KYK4-1", "url": "", "sequence": { "sequence": "MSGSMATAEASGSDGKGQEVETSVTYYRLEEVAKRNSLKELWLVIHGRVYDVTRFLNEHPGGEEVLLEQAGVDASESFEDVGHSSDAREMLKQYYIGDIHPSDLKPESGSKLLGILDFTHHRRCSLRFPVPLLHIGKQILLRRPC", "length": 145, "header": "tr|A0A8I5KYK4-1|CYB5B_HUMAN Computationally mapped isoform of Cytochrome b5 type B OS=Homo sapiens OX=9606 GN=CYB5B PE=1 SV=1 CANONICAL=O43169-1" }, "locus": { "chromosome": "16", "start_pos": 69462531, "end_pos": 69424684, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000691260.1", "url": "https://www.ensembl.org/id/ENST00000691260.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509888.1", "url": "https://www.ensembl.org/id/ENSP00000509888.1" } ] } }, { "isoform_ac": "A0A8I5QJ67-1", "url": "", "sequence": { "sequence": "MSGSMATAEASGSDGKGQEVETSVTYYRLEEVAKRNSLKELWLVIHGRVYDVTRFLNEDPSKNDTCKSCWAYWILPIIGAVLLGFLYRYYTSESKSS", "length": 97, "header": "tr|A0A8I5QJ67-1|CYB5B_HUMAN Computationally mapped isoform of Cytochrome b5 type B OS=Homo sapiens OX=9606 GN=CYB5B PE=1 SV=1 CANONICAL=O43169-1" }, "locus": { "chromosome": "16", "start_pos": 69462517, "end_pos": 69424684, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000684784.1", "url": "https://www.ensembl.org/id/ENST00000684784.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508548.1", "url": "https://www.ensembl.org/id/ENSP00000508548.1" } ] } }, { "isoform_ac": "A0A8I5QKN7-1", "url": "", "sequence": { "sequence": "MSGSMATAEASGSDGKGQEVETSVTYYRLEEVAKRNSLKELWLVIHGRVYDVTRFLNEHPGGEEVLLEQAGVDASESFEDVGHSSDAREMLKQYYIGDIHPSDLKPESGSKDPSKNDTCKRRCSLRFPVPLLHIGKQILLRRPC", "length": 144, "header": "tr|A0A8I5QKN7-1|CYB5B_HUMAN Computationally mapped isoform of Cytochrome b5 type B OS=Homo sapiens OX=9606 GN=CYB5B PE=1 SV=1 CANONICAL=O43169-1" }, "locus": { "chromosome": "16", "start_pos": 69462531, "end_pos": 69424684, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000687780.1", "url": "https://www.ensembl.org/id/ENST00000687780.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508976.1", "url": "https://www.ensembl.org/id/ENSP00000508976.1" } ] } }, { "isoform_ac": "D6RFH4-1", "url": "", "sequence": { "sequence": "MSGSMATAEASGSDGKGQEVETSVTYYRLEEVAKRNSLKELWLVIHGRVYDVTRFLNEHPGGEEVLLEQAGVDASESFEDVGHSSDAREMLKQYYIGDIHPSDLKPESGSKDPSKNDTCKRLVSP", "length": 125, "header": "tr|D6RFH4-1|CYB5B_HUMAN Computationally mapped isoform of Cytochrome b5 type B OS=Homo sapiens OX=9606 GN=CYB5B PE=1 SV=3 CANONICAL=O43169-1" }, "locus": { "chromosome": "16", "start_pos": 69459134, "end_pos": 69424684, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000515314.7", "url": "https://www.ensembl.org/id/ENST00000515314.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000421492.3", "url": "https://www.ensembl.org/id/ENSP00000421492.3" } ] } }, { "isoform_ac": "H3BUX2-1", "url": "", "sequence": { "sequence": "MSGSMATAEASGSDGKGQEVETSVTYYRLEEVAKRNSLKELWLVIHGRVYDVTRFLNEHPGGEEVLLEQAGVDASESFEDVGHSSDAREMLKQYYIGDIHPDPSKNDTCKSCWAYWILPIIGAVLLGFLYRYYTSESKSS", "length": 140, "header": "tr|H3BUX2-1|CYB5B_HUMAN Computationally mapped isoform of Cytochrome b5 type B OS=Homo sapiens OX=9606 GN=CYB5B PE=1 SV=3 CANONICAL=O43169-1" }, "locus": { "chromosome": "16", "start_pos": 69462517, "end_pos": 69424684, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000561792.7", "url": "https://www.ensembl.org/id/ENST00000561792.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000457848.3", "url": "https://www.ensembl.org/id/ENSP00000457848.3" } ] } }, { "isoform_ac": "J3QR91-1", "url": "", "sequence": { "sequence": "MSGSMATAEASGSDGKGQEVETSVTYYRLEEVAKRNSLKELWLVIHGRVYDVTRFLNEVGPGRWEASEAAGARGEKAVWSHPGGEEVLLEQAGVDASESFEDVGHSSDAREMLKQYYIGDIHPSDLKPESGSKDPSKNDTCKSCWAYWILPIIGAVLLGFLYRYYTSESKSS", "length": 172, "header": "tr|J3QR91-1|CYB5B_HUMAN Computationally mapped isoform of Cytochrome b5 type B OS=Homo sapiens OX=9606 GN=CYB5B PE=1 SV=2 CANONICAL=O43169-1" }, "locus": { "chromosome": "16", "start_pos": 69462517, "end_pos": 69424684, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000568237.2", "url": "https://www.ensembl.org/id/ENST00000568237.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000464102.2", "url": "https://www.ensembl.org/id/ENSP00000464102.2" } ] } }, { "isoform_ac": "O43169-1", "url": "", "sequence": { "sequence": "MSGSMATAEASGSDGKGQEVETSVTYYRLEEVAKRNSLKELWLVIHGRVYDVTRFLNEHPGGEEVLLEQAGVDASESFEDVGHSSDAREMLKQYYIGDIHPSDLKPESGSKDPSKNDTCKSCWAYWILPIIGAVLLGFLYRYYTSESKSS", "length": 150, "header": "sp|O43169-1|CYB5B_HUMAN Isoform 1 of Cytochrome b5 type B OS=Homo sapiens OX=9606 GN=CYB5B PE=1 SV=3 CANONICAL=O43169-1" }, "locus": { "chromosome": "16", "start_pos": 69462517, "end_pos": 69424684, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000307892.13", "url": "https://www.ensembl.org/id/ENST00000307892.13" }, { "database": "Ensembl Peptide", "id": "ENSP00000308430.8", "url": "https://www.ensembl.org/id/ENSP00000308430.8" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O43169", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43169" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" } ] } ], "phosphorylation": [ { "start_pos": 23, "end_pos": 23, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43169", "url": "https://www.uniprot.org/uniprot/O43169" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O43169", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43169" }, { "database": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" } ], "site_lbl": "Ser23" }, { "start_pos": 2, "end_pos": 2, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43169", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43169" }, { "database": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ], "site_lbl": "Ser2" }, { "start_pos": 37, "end_pos": 37, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43169", "url": "https://www.uniprot.org/uniprot/O43169" }, { "database": "iPTMnet", "id": "O43169", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43169" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "27920218", "url": "" } ], "site_lbl": "Ser37" }, { "start_pos": 84, "end_pos": 84, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43169", "url": "https://www.uniprot.org/uniprot/O43169" } ], "site_lbl": "Ser84" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Nefazodone, meta-chlorophenylpiperazine, and their metabolites in vitro: cytochromes mediating transformation, and P450-3A4 inhibitory actions.", "journal": "Psychopharmacology", "date": "1999", "authors": "von Moltke LL, Greenblatt DJ, Granda BW, Grassi JM, Schmider J, Harmatz JS, Shader RI", "evidence": [ { "database": "Reactome", "id": "R-HSA-211945", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211945" } ], "reference": [ { "type": "PubMed", "id": "10445380", "url": "https://glygen.org/publication/PubMed/10445380" } ] }, { "title": "Purification of the serine palmitoyltransferase complex responsible for sphingoid base synthesis by using affinity peptide chromatography techniques.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Hanada K, Hara T, Nishijima M", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "10722674", "url": "https://glygen.org/publication/PubMed/10722674" } ] }, { "title": "Molecular cloning and functional characterization of a novel mammalian sphingosine kinase type 2 isoform.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Liu H, Sugiura M, Nava VE, Edsall LC, Kono K, Poulton S, Milstien S, Kohama T, Spiegel S", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "10751414", "url": "https://glygen.org/publication/PubMed/10751414" } ] }, { "title": "Functional characterization of human sphingosine kinase-1.", "journal": "FEBS letters", "date": "2000", "authors": "Nava VE, Lacana E, Poulton S, Liu H, Sugiura M, Kono K, Milstien S, Kohama T, Spiegel S", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "10802064", "url": "https://glygen.org/publication/PubMed/10802064" } ] }, { "title": "Bioactivation of 5-(aziridin-1-yl)-2,4-dinitrobenzamide (CB 1954) by human NAD(P)H quinone oxidoreductase 2: a novel co-substrate-mediated antitumor prodrug therapy.", "journal": "Cancer research", "date": "2000", "authors": "Knox RJ, Jenkins TC, Hobbs SM, Chen S, Melton RG, Burke PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-211945", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211945" } ], "reference": [ { "type": "PubMed", "id": "10945627", "url": "https://glygen.org/publication/PubMed/10945627" } ] }, { "title": "Human sphingosine kinase: purification, molecular cloning and characterization of the native and recombinant enzymes.", "journal": "The Biochemical journal", "date": "2000", "authors": "Pitson SM, D'andrea RJ, Vandeleur L, Moretti PA, Xia P, Gamble JR, Vadas MA, Wattenberg BW", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "10947957", "url": "https://glygen.org/publication/PubMed/10947957" } ] }, { "title": "Epoxide hydrolases: biochemistry and molecular biology.", "journal": "Chemico-biological interactions", "date": "2000", "authors": "Fretland AJ, Omiecinski CJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-211945", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211945" } ], "reference": [ { "type": "PubMed", "id": "11154734", "url": "https://glygen.org/publication/PubMed/11154734" } ] }, { "title": "Inhibitory effects of verapamil and diltiazem on simvastatin metabolism in human liver microsomes.", "journal": "British journal of clinical pharmacology", "date": "2001", "authors": "Yeo KR, Yeo WW", "evidence": [ { "database": "Reactome", "id": "R-HSA-211945", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211945" } ], "reference": [ { "type": "PubMed", "id": "11422004", "url": "https://glygen.org/publication/PubMed/11422004" } ] }, { "title": "Assessment of the ability of type 2 cytochrome b5 to modulate 17,20-lyase activity of human P450c17.", "journal": "The Journal of steroid biochemistry and molecular biology", "date": "2002", "authors": "Soucy P, Luu-The V", "evidence": [ { "database": "RefSeq", "id": "NP_085056", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_085056" } ], "reference": [ { "type": "PubMed", "id": "11867265", "url": "https://glygen.org/publication/PubMed/11867265" } ] }, { "title": "Identification and characterization of a sphingolipid delta 4-desaturase family.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Ternes P, Franke S, Zahringer U, Sperling P, Heinz E", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "11937514", "url": "https://glygen.org/publication/PubMed/11937514" } ] }, { "title": "Crystal structure of human carboxylesterase 1 complexed with the Alzheimer's drug tacrine: from binding promiscuity to selective inhibition.", "journal": "Chemistry & biology", "date": "2003", "authors": "Bencharit S, Morton CL, Hyatt JL, Kuhn P, Danks MK, Potter PM, Redinbo MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-211945", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211945" } ], "reference": [ { "type": "PubMed", "id": "12725862", "url": "https://glygen.org/publication/PubMed/12725862" } ] }, { "title": "Identification of a human valacyclovirase: biphenyl hydrolase-like protein as valacyclovir hydrolase.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Kim I, Chu XY, Kim S, Provoda CJ, Lee KD, Amidon GL", "evidence": [ { "database": "Reactome", "id": "R-HSA-211945", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211945" } ], "reference": [ { "type": "PubMed", "id": "12732646", "url": "https://glygen.org/publication/PubMed/12732646" } ] }, { "title": "Wine, alcohol, platelets, and the French paradox for coronary heart disease.", "journal": "Lancet (London, England)", "date": "1992", "authors": "Renaud S, de Lorgeril M", "evidence": [ { "database": "Reactome", "id": "R-HSA-211945", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211945" } ], "reference": [ { "type": "PubMed", "id": "1351198", "url": "https://glygen.org/publication/PubMed/1351198" } ] }, { "title": "Molecular machinery for non-vesicular trafficking of ceramide.", "journal": "Nature", "date": "2003", "authors": "Hanada K, Kumagai K, Yasuda S, Miura Y, Kawano M, Fukasawa M, Nishijima M", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "14685229", "url": "https://glygen.org/publication/PubMed/14685229" } ] }, { "title": "Identification of a family of animal sphingomyelin synthases.", "journal": "The EMBO journal", "date": "2004", "authors": "Huitema K, van den Dikkenberg J, Brouwers JF, Holthuis JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "14685263", "url": "https://glygen.org/publication/PubMed/14685263" } ] }, { "title": "Expression cloning of a human cDNA restoring sphingomyelin synthesis and cell growth in sphingomyelin synthase-defective lymphoid cells.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Yamaoka S, Miyaji M, Kitano T, Umehara H, Okazaki T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "14976195", "url": "https://glygen.org/publication/PubMed/14976195" } ] }, { "title": "Identification of the human sphingolipid C4-hydroxylase, hDES2, and its up-regulation during keratinocyte differentiation.", "journal": "FEBS letters", "date": "2004", "authors": "Mizutani Y, Kihara A, Igarashi Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "15063729", "url": "https://glygen.org/publication/PubMed/15063729" } ] }, { "title": "FVT-1 is a mammalian 3-ketodihydrosphingosine reductase with an active site that faces the cytosolic side of the endoplasmic reticulum membrane.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Kihara A, Igarashi Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "15328338", "url": "https://glygen.org/publication/PubMed/15328338" } ] }, { "title": "The human FA2H gene encodes a fatty acid 2-hydroxylase.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Alderson NL, Rembiesa BM, Walla MD, Bielawska A, Bielawski J, Hama H", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "15337768", "url": "https://glygen.org/publication/PubMed/15337768" } ] }, { "title": "Crystal structure of quinone reductase 2 in complex with resveratrol.", "journal": "Biochemistry", "date": "2004", "authors": "Buryanovskyy L, Fu Y, Boyd M, Ma Y, Hsieh TC, Wu JM, Zhang Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-211945", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211945" } ], "reference": [ { "type": "PubMed", "id": "15350128", "url": "https://glygen.org/publication/PubMed/15350128" } ] }, { "title": "Cardiovascular protective effects of resveratrol.", "journal": "Cardiovascular drug reviews", "date": "2004", "authors": "Bradamante S, Barenghi L, Villa A", "evidence": [ { "database": "Reactome", "id": "R-HSA-211945", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211945" } ], "reference": [ { 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"https://glygen.org/publication/PubMed/15535985" } ] }, { "title": "LASS5 is a bona fide dihydroceramide synthase that selectively utilizes palmitoyl-CoA as acyl donor.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Lahiri S, Futerman AH", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "16100120", "url": "https://glygen.org/publication/PubMed/16100120" } ] }, { "title": "SphK1 and SphK2, sphingosine kinase isoenzymes with opposing functions in sphingolipid metabolism.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Maceyka M, Sankala H, Hait NC, Le Stunff H, Liu H, Toman R, Collier C, Zhang M, Satin LS, Merrill AH Jr, Milstien S, Spiegel S", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "16118219", "url": "https://glygen.org/publication/PubMed/16118219" } ] }, { "title": "Oxysterol-binding protein and vesicle-associated membrane protein-associated protein are required for sterol-dependent activation of the ceramide transport protein.", "journal": "Molecular biology of the cell", "date": "2006", "authors": "Perry RJ, Ridgway ND", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "16571669", "url": "https://glygen.org/publication/PubMed/16571669" } ] }, { "title": "RNAi-mediated knockdown of aldehyde dehydrogenase class-1A1 and class-3A1 is specific and reveals that each contributes equally to the resistance against 4-hydroperoxycyclophosphamide.", "journal": "Cancer chemotherapy and pharmacology", "date": "2007", "authors": "Moreb JS, Mohuczy D, Ostmark B, Zucali JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-211945", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211945" } ], "reference": [ { "type": "PubMed", "id": "16614850", "url": "https://glygen.org/publication/PubMed/16614850" } ] }, { "title": "NRH:quinone oxidoreductase 2 (NQO2) catalyzes metabolic activation of quinones and anti-tumor drugs.", "journal": "Biochemical pharmacology", "date": "2006", "authors": "Celli CM, Tran N, Knox R, Jaiswal AK", "evidence": [ { "database": "Reactome", "id": "R-HSA-211945", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211945" } ], "reference": [ { "type": "PubMed", "id": "16765324", "url": "https://glygen.org/publication/PubMed/16765324" } ] }, { "title": "When do Lasses (longevity assurance genes) become CerS (ceramide synthases)?: Insights into the regulation of ceramide synthesis.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Pewzner-Jung Y, Ben-Dor S, Futerman AH", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "16793762", "url": "https://glygen.org/publication/PubMed/16793762" } ] }, { "title": "Efficient trafficking of ceramide from the endoplasmic reticulum to the Golgi apparatus requires a VAMP-associated protein-interacting FFAT motif of CERT.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Kawano M, Kumagai K, Nishijima M, Hanada K", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "16895911", "url": "https://glygen.org/publication/PubMed/16895911" } ] }, { "title": "Cloning and initial characterization of a new subunit for mammalian serine-palmitoyltransferase.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Hornemann T, Richard S, Rutti MF, Wei Y, von Eckardstein A", "evidence": [ { "database": 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Daviaud D, Gres S, Lefort C, Prevot D, Zorzano A, Wabitsch M, Saulnier-Blache JS, Valet P, Carpene C", "evidence": [ { "database": "Reactome", "id": "R-HSA-211945", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211945" } ], "reference": [ { "type": "PubMed", "id": "17400359", "url": "https://glygen.org/publication/PubMed/17400359" } ] }, { "title": "Both sphingomyelin synthases SMS1 and SMS2 are required for sphingomyelin homeostasis and growth in human HeLa cells.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Tafesse FG, Huitema K, Hermansson M, van der Poel S, van den Dikkenberg J, Uphoff A, Somerharju P, Holthuis JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "17449912", "url": "https://glygen.org/publication/PubMed/17449912" } ] }, { "title": "Regulation of secretory transport by protein kinase D-mediated phosphorylation of the ceramide transfer protein.", "journal": "The Journal of cell biology", "date": "2007", "authors": "Fugmann T, Hausser A, Schoffler P, Schmid S, Pfizenmaier K, Olayioye MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "17591919", "url": "https://glygen.org/publication/PubMed/17591919" } ] }, { "title": "SMS overexpression and knockdown: impact on cellular sphingomyelin and diacylglycerol metabolism, and cell apoptosis.", "journal": "Journal of lipid research", "date": "2008", "authors": "Ding T, Li Z, Hailemariam T, Mukherjee S, Maxfield FR, Wu MP, Jiang XC", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "17982138", "url": "https://glygen.org/publication/PubMed/17982138" } ] }, { "title": "Protein phosphatase 2Cepsilon is an endoplasmic reticulum integral membrane protein that dephosphorylates the ceramide transport protein CERT to enhance its association with organelle membranes.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Saito S, Matsui H, Kawano M, Kumagai K, Tomishige N, Hanada K, Echigo S, Tamura S, Kobayashi T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "18165232", "url": "https://glygen.org/publication/PubMed/18165232" } ] }, { "title": "Characterization of ceramide synthase 2: tissue distribution, substrate specificity, and inhibition by sphingosine 1-phosphate.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Laviad EL, Albee L, Pankova-Kholmyansky I, Epstein S, Park H, Merrill AH Jr, Futerman AH", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": 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JA, Mesecar AD", "evidence": [ { "database": "Reactome", "id": "R-HSA-211945", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211945" } ], "reference": [ { "type": "PubMed", "id": "18254726", "url": "https://glygen.org/publication/PubMed/18254726" } ] }, { "title": "Molecular basis of prodrug activation by human valacyclovirase, an alpha-amino acid ester hydrolase.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Lai L, Xu Z, Zhou J, Lee KD, Amidon GL", "evidence": [ { "database": "Reactome", "id": "R-HSA-211945", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211945" } ], "reference": [ { "type": "PubMed", "id": "18256025", "url": "https://glygen.org/publication/PubMed/18256025" } ] }, { "title": "Rapid clinical induction of hepatic cytochrome P4502B6 activity by ritonavir.", "journal": "Antimicrobial agents and chemotherapy", "date": "2008", "authors": "Kharasch ED, Mitchell D, Coles R, Blanco R", "evidence": [ { "database": "Reactome", 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SP", "evidence": [ { "database": "iPTMnet", "id": "O43169", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43169" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Successive and selective release of phosphorylated peptides captured by hydroxy acid-modified metal oxide chromatography.", "journal": "Journal of proteome research", "date": "2008", "authors": "Kyono Y, Sugiyama N, Imami K, Tomita M, Ishihama Y", "evidence": [ { "database": "iPTMnet", "id": "O43169", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43169" } ], "reference": [ { "type": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" } ] }, { "title": "Casein kinase I{gamma}2 down-regulates trafficking of ceramide in the synthesis of sphingomyelin.", "journal": "Molecular biology of the cell", "date": "2009", "authors": "Tomishige N, Kumagai K, Kusuda J, Nishijima M, Hanada K", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "19005213", "url": "https://glygen.org/publication/PubMed/19005213" } ] }, { "title": "The fourth molybdenum containing enzyme mARC: cloning and involvement in the activation of N-hydroxylated prodrugs.", "journal": "Journal of medicinal chemistry", "date": "2008", "authors": "Gruenewald S, Wahl B, Bittner F, Hungeling H, Kanzow S, Kotthaus J, Schwering U, Mendel RR, Clement B", "evidence": [ { "database": "Reactome", "id": "R-HSA-211945", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211945" } ], "reference": [ { "type": "PubMed", "id": "19053771", "url": "https://glygen.org/publication/PubMed/19053771" } ] }, { "title": "Sphingomyelin synthase 2 is palmitoylated at the COOH-terminal tail, which is involved in its localization in plasma membranes.", "journal": "Biochemical and biophysical research communications", "date": "2009", "authors": "Tani M, Kuge O", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "19233134", "url": "https://glygen.org/publication/PubMed/19233134" } ] }, { "title": "Identification of small subunits of mammalian serine palmitoyltransferase that confer distinct acyl-CoA substrate specificities.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2009", "authors": "Han G, Gupta SD, Gable K, Niranjanakumari S, Moitra P, Eichler F, Brown RH Jr, Harmon JM, Dunn TM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "19416851", "url": "https://glygen.org/publication/PubMed/19416851" } ] }, { "title": "Sphingomyelin synthase-related protein SMSr controls ceramide homeostasis in the ER.", "journal": "The Journal of cell biology", "date": "2009", "authors": "Vacaru AM, Tafesse FG, Ternes P, Kondylis V, Hermansson M, Brouwers JF, Somerharju P, Rabouille C, Holthuis JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "19506037", "url": "https://glygen.org/publication/PubMed/19506037" } ] }, { "title": "The unique substrate specificity of human AOC2, a semicarbazide-sensitive amine oxidase.", "journal": "Cellular and molecular life sciences : CMLS", "date": "2009", "authors": "Kaitaniemi S, Elovaara H, Gron K, Kidron H, Liukkonen J, Salminen T, Salmi M, Jalkanen S, Elima K", "evidence": [ { "database": "Reactome", "id": "R-HSA-211945", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211945" } ], "reference": [ { "type": "PubMed", "id": "19588076", "url": "https://glygen.org/publication/PubMed/19588076" } ] }, { "title": "Lysine acetylation targets protein complexes and co-regulates major cellular functions.", "journal": "Science (New York, N.Y.)", "date": "2009", "authors": "Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O43169", "url": "https://www.uniprot.org/uniprot/O43169" } ], "reference": [ { "type": "PubMed", "id": "19608861", "url": "https://glygen.org/publication/PubMed/19608861" } ] }, { "title": "Structure and inhibition of human diamine oxidase.", "journal": "Biochemistry", "date": "2009", "authors": "McGrath AP, Hilmer KM, Collyer CA, Shepard EM, Elmore BO, Brown DE, Dooley DM, Guss JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-211945", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211945" } ], "reference": [ { "type": "PubMed", "id": "19764817", "url": "https://glygen.org/publication/PubMed/19764817" } ] }, { "title": "Naturally occurring variants of human CBR3 alter anthracycline in vitro metabolism.", "journal": "The Journal of pharmacology and experimental therapeutics", "date": "2010", "authors": "Bains OS, Karkling MJ, Lubieniecka JM, Grigliatti TA, Reid RE, Riggs KW", "evidence": [ { "database": "Reactome", "id": "R-HSA-211945", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211945" } ], "reference": [ { "type": "PubMed", "id": "20007405", "url": "https://glygen.org/publication/PubMed/20007405" } ] }, { "title": "Pharmacology and antitumor activity of ABC294640, a selective inhibitor of sphingosine kinase-2.", "journal": "The Journal of pharmacology and experimental therapeutics", "date": "2010", "authors": "French KJ, Zhuang Y, Maines LW, Gao P, Wang W, Beljanski V, Upson JJ, Green CL, Keller SN, Smith CD", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "20061445", "url": "https://glygen.org/publication/PubMed/20061445" } ] }, { "title": "Constitutively overexpressed 21 kDa protein in Hodgkin lymphoma and aggressive non-Hodgkin lymphomas identified as cytochrome B5b (CYB5B).", "journal": "Molecular cancer", "date": "2010", "authors": "Murphy D, Parker J, Zhou M, Fadlelmola FM, Steidl C, Karsan A, Gascoyne RD, Chen H, Banerjee D", "evidence": [ { "database": "RefSeq", "id": "NP_085056", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_085056" } ], "reference": [ { "type": "PubMed", "id": "20100355", "url": "https://glygen.org/publication/PubMed/20100355" } ] }, { "title": "Estradiol induces export of sphingosine 1-phosphate from breast cancer cells via ABCC1 and ABCG2.", "journal": "The Journal of biological chemistry", "date": "2010-04-02", "authors": "Takabe Kazuaki, Kim Roger H, Allegood Jeremy C, Mitra Poulami, Ramachandran Subramaniam, Nagahashi Masayuki, Harikumar Kuzhuvelil B, Hait Nitai C, Milstien Sheldon, Spiegel Sarah", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "20110355", "url": "https://glygen.org/publication/PubMed/20110355" } ] }, { "title": "Human carboxymethylenebutenolidase as a bioactivating hydrolase of olmesartan medoxomil in liver and intestine.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Ishizuka T, Fujimori I, Kato M, Noji-Sakikawa C, Saito M, Yoshigae Y, Kubota K, Kurihara A, Izumi T, Ikeda T, Okazaki O", "evidence": [ { "database": "Reactome", "id": "R-HSA-211945", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211945" } ], "reference": [ { "type": "PubMed", "id": "20177059", "url": "https://glygen.org/publication/PubMed/20177059" } ] }, { "title": "Orm family proteins mediate sphingolipid homeostasis.", "journal": "Nature", "date": "2010", "authors": "Breslow DK, Collins SR, Bodenmiller B, Aebersold R, Simons K, Shevchenko A, Ejsing CS, Weissman JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "20182505", "url": "https://glygen.org/publication/PubMed/20182505" } ] }, { "title": "Mammalian carboxylesterase 3: comparative genomics and proteomics.", "journal": "Genetica", "date": "2010", "authors": "Holmes RS, Cox LA, VandeBerg JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-211945", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211945" } ], "reference": [ { "type": "PubMed", "id": "20422440", "url": "https://glygen.org/publication/PubMed/20422440" } ] }, { "title": "Arylacetamide deacetylase is a determinant enzyme for the difference in hydrolase activities of phenacetin and acetaminophen.", "journal": "Drug metabolism and disposition: the biological fate of chemicals", "date": "2010", "authors": "Watanabe A, Fukami T, Takahashi S, Kobayashi Y, Nakagawa N, Nakajima M, Yokoi T", "evidence": [ { "database": "Reactome", "id": "R-HSA-211945", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211945" } ], "reference": [ { "type": "PubMed", "id": "20542992", "url": "https://glygen.org/publication/PubMed/20542992" } ] }, { "title": "(R)-FTY720 methyl ether is a specific sphingosine kinase 2 inhibitor: Effect on sphingosine kinase 2 expression in HEK 293 cells and actin rearrangement and survival of MCF-7 breast cancer cells.", "journal": "Cellular signalling", "date": "2011", "authors": "Lim KG, Sun C, Bittman R, Pyne NJ, Pyne S", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "21620961", "url": "https://glygen.org/publication/PubMed/21620961" } ] }, { "title": "Stereospecificity of fatty acid 2-hydroxylase and differential functions of 2-hydroxy fatty acid enantiomers.", "journal": "Journal of lipid research", "date": "2012-07", "authors": "Guo Lin, Zhang Xu, Zhou Dequan, Okunade Adewole L, Su Xiong", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "22517924", "url": "https://glygen.org/publication/PubMed/22517924" } ] }, { "title": "Identification of a novel intracellular cholesteryl ester hydrolase (carboxylesterase 3) in human macrophages: compensatory increase in its expression after carboxylesterase 1 silencing.", "journal": "American journal of physiology. Cell physiology", "date": "2012", "authors": "Zhao B, Bie J, Wang J, Marqueen SA, Ghosh S", "evidence": [ { "database": "Reactome", "id": "R-HSA-211945", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211945" } ], "reference": [ { "type": "PubMed", "id": "22700792", "url": "https://glygen.org/publication/PubMed/22700792" } ] }, { "title": "The emerging role of human esterases.", "journal": "Drug metabolism and pharmacokinetics", "date": "2012", "authors": "Fukami T, Yokoi T", "evidence": [ { "database": "Reactome", "id": "R-HSA-211945", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211945" } ], "reference": [ { "type": "PubMed", "id": "22813719", "url": "https://glygen.org/publication/PubMed/22813719" } ] }, { "title": "Characterization of isoenzyme-selective inhibitors of human sphingosine kinases.", "journal": "PloS one", "date": "2012", "authors": "Gao P, Peterson YK, Smith RA, Smith CD", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "22970244", "url": "https://glygen.org/publication/PubMed/22970244" } ] }, { "title": "Spns2, a transporter of phosphorylated sphingoid bases, regulates their blood and lymph levels, and the lymphatic network.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2013", "authors": "Nagahashi M, Kim EY, Yamada A, Ramachandran S, Allegood JC, Hait NC, Maceyka M, Milstien S, Takabe K, Spiegel S", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "23180825", "url": "https://glygen.org/publication/PubMed/23180825" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O43169", "url": "https://www.uniprot.org/uniprot/O43169" }, { "database": "iPTMnet", "id": "O43169", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43169" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Molecular basis of sphingosine kinase 1 substrate recognition and catalysis.", "journal": "Structure (London, England : 1993)", "date": "2013", "authors": "Wang Z, Min X, Xiao SH, Johnstone S, Romanow W, Meininger D, Xu H, Liu J, Dai J, An S, Thibault S, Walker N", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "23602659", "url": "https://glygen.org/publication/PubMed/23602659" } ] }, { "title": "Cobicistat, a pharmacoenhancer for HIV treatments.", "journal": "Drugs of today (Barcelona, Spain : 1998)", "date": "2013", "authors": "Temesgen Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-211945", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211945" } ], "reference": [ { "type": "PubMed", "id": "23616950", "url": "https://glygen.org/publication/PubMed/23616950" } ] }, { "title": "Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans.", "journal": "PLoS genetics", "date": "2013", "authors": "Radner FP, Marrakchi S, Kirchmeier P, Kim GJ, Ribierre F, Kamoun B, Abid L, Leipoldt M, Turki H, Schempp W, Heilig R, Lathrop M, Fischer J", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "23754960", "url": "https://glygen.org/publication/PubMed/23754960" } ] }, { "title": "Design, synthesis, biological and structural evaluation of functionalized resveratrol analogues as inhibitors of quinone reductase 2.", "journal": "Bioorganic & medicinal chemistry", "date": "2013", "authors": "St John SE, Jensen KC, Kang S, Chen Y, Calamini B, Mesecar AD, Lipton MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-211945", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211945" } ], "reference": [ { "type": "PubMed", "id": "23953689", "url": "https://glygen.org/publication/PubMed/23953689" } ] }, { "title": "Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Guo A, Gu H, Zhou J, Mulhern D, Wang Y, Lee KA, Yang V, Aguiar M, Kornhauser J, Jia X, Ren J, Beausoleil SA, Silva JC, Vemulapalli V, Bedford MT, Comb MJ", "evidence": [ { "database": "UniProtKB", "id": "O43169", "url": "https://www.uniprot.org/uniprot/O43169" } ], "reference": [ { "type": "PubMed", "id": "24129315", "url": "https://glygen.org/publication/PubMed/24129315" } ] }, { "title": "Functional characterization of protein variants encoded by nonsynonymous single nucleotide polymorphisms in MARC1 and MARC2 in healthy Caucasians.", "journal": "Drug metabolism and disposition: the biological fate of chemicals", "date": "2014", "authors": "Ott G, Reichmann D, Boerger C, Cascorbi I, Bittner F, Mendel RR, Kunze T, Clement B, Havemeyer A", "evidence": [ { "database": "Reactome", "id": "R-HSA-211945", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211945" } ], "reference": [ { "type": "PubMed", "id": "24423752", "url": "https://glygen.org/publication/PubMed/24423752" } ] }, { "title": "Phosphoregulation of the ceramide transport protein CERT at serine 315 in the interaction with VAMP-associated protein (VAP) for inter-organelle trafficking of ceramide in mammalian cells.", "journal": "The Journal of biological chemistry", "date": "2014", "authors": "Kumagai K, Kawano-Kawada M, Hanada K", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "24569996", "url": "https://glygen.org/publication/PubMed/24569996" } ] }, { "title": "Development of selective inhibitors for human aldehyde dehydrogenase 3A1 (ALDH3A1) for the enhancement of cyclophosphamide cytotoxicity.", "journal": "Chembiochem : a European journal of chemical biology", "date": "2014", "authors": "Parajuli B, Georgiadis TM, Fishel ML, Hurley TD", "evidence": [ { "database": "Reactome", "id": "R-HSA-211945", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211945" } ], "reference": [ { "type": "PubMed", "id": "24677340", "url": "https://glygen.org/publication/PubMed/24677340" } ] }, { "title": "Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy.", "journal": "Annals of neurology", "date": "2014", "authors": "Vanni N, Fruscione F, Ferlazzo E, Striano P, Robbiano A, Traverso M, Sander T, Falace A, Gazzerro E, Bramanti P, Bielawski J, Fassio A, Minetti C, Genton P, Zara F", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "24782409", "url": "https://glygen.org/publication/PubMed/24782409" } ] }, { "title": "Cobicistat (GS-9350): A Potent and Selective Inhibitor of Human CYP3A as a Novel Pharmacoenhancer.", "journal": "ACS medicinal chemistry letters", "date": "2010", "authors": "Xu L, Liu H, Murray BP, Callebaut C, Lee MS, Hong A, Strickley RG, Tsai LK, Stray KM, Wang Y, Rhodes GR, Desai MC", "evidence": [ { "database": "Reactome", "id": "R-HSA-211945", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211945" } ], "reference": [ { "type": "PubMed", "id": "24900196", "url": "https://glygen.org/publication/PubMed/24900196" } ] }, { "title": "The N-reductive system composed of mitochondrial amidoxime reducing component (mARC), cytochrome b5 (CYB5B) and cytochrome b5 reductase (CYB5R) is regulated by fasting and high fat diet in mice.", "journal": "PloS one", "date": "2014", "authors": "Jakobs HH, Mikula M, Havemeyer A, Strzalkowska A, Borowa-Chmielak M, Dzwonek A, Gajewska M, Hennig EE, Ostrowski J, Clement B", "evidence": [ { "database": "Reactome", "id": "R-HSA-211945", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211945" } ], "reference": [ { "type": "PubMed", "id": "25144769", "url": "https://glygen.org/publication/PubMed/25144769" } ] }, { "title": "The mammalian molybdenum enzymes of mARC.", "journal": "Journal of biological inorganic chemistry : JBIC : a publication of the Society of Biological Inorganic Chemistry", "date": "2015", "authors": "Ott G, Havemeyer A, Clement B", "evidence": [ { "database": "Reactome", "id": "R-HSA-211945", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211945" } ], "reference": [ { "type": "PubMed", "id": "25425164", "url": "https://glygen.org/publication/PubMed/25425164" } ] }, { "title": "Metabolism of doxorubicin to the cardiotoxic metabolite doxorubicinol is increased in a mouse model of chronic glutathione deficiency: A potential role for carbonyl reductase 3.", "journal": "Chemico-biological interactions", "date": "2015", "authors": "Schaupp CM, White CC, Merrill GF, Kavanagh TJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-211945", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211945" } ], "reference": [ { "type": "PubMed", "id": "25446851", "url": "https://glygen.org/publication/PubMed/25446851" } ] }, { "title": "A selective ATP-competitive sphingosine kinase inhibitor demonstrates anti-cancer properties.", "journal": "Oncotarget", "date": "2015", "authors": "Pitman MR, Powell JA, Coolen C, Moretti PA, Zebol JR, Pham DH, Finnie JW, Don AS, Ebert LM, Bonder CS, Gliddon BL, Pitson SM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "25788259", "url": "https://glygen.org/publication/PubMed/25788259" } ] }, { "title": "Ritonavir is the best alternative to ketoconazole as an index inhibitor of cytochrome P450-3A in drug-drug interaction studies.", "journal": "British journal of clinical pharmacology", "date": "2015", "authors": "Greenblatt DJ, Harmatz JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-211945", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211945" } ], "reference": [ { "type": "PubMed", "id": "25923589", "url": "https://glygen.org/publication/PubMed/25923589" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43169", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43169" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma.", "journal": "American journal of human genetics", "date": "2017", "authors": "Boyden LM, Vincent NG, Zhou J, Hu R, Craiglow BG, Bayliss SJ, Rosman IS, Lucky AW, Diaz LA, Goldsmith LA, Paller AS, Lifton RP, Baserga SJ, Choate KA", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "28575652", "url": "https://glygen.org/publication/PubMed/28575652" } ] }, { "title": "Doxorubicin cardiotoxicity may be caused by its metabolite, doxorubicinol.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1988", "authors": "Olson RD, Mushlin PS, Brenner DE, Fleischer S, Cusack BJ, Chang BK, Boucek RJ Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-211945", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211945" } ], "reference": [ { "type": "PubMed", "id": "2897122", "url": "https://glygen.org/publication/PubMed/2897122" } ] }, { "title": "MFSD2B is a sphingosine 1-phosphate transporter in erythroid cells.", "journal": "Scientific reports", "date": "2018", "authors": "Kobayashi N, Kawasaki-Nishi S, Otsuka M, Hisano Y, Yamaguchi A, Nishi T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "29563527", "url": "https://glygen.org/publication/PubMed/29563527" } ] }, { "title": "Discovery of a Small Side Cavity in Sphingosine Kinase 2 that Enhances Inhibitor Potency and Selectivity.", "journal": "Journal of medicinal chemistry", "date": "2020", "authors": "Sibley CD, Morris EA, Kharel Y, Brown AM, Huang T, Bevan DR, Lynch KR, Santos WL", "evidence": [ { "database": "Reactome", "id": "R-HSA-1660661", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1660661" } ], "reference": [ { "type": "PubMed", "id": "31895563", "url": "https://glygen.org/publication/PubMed/31895563" } ] }, { "title": "Compounds with Therapeutic Potential against Novel Respiratory 2019 Coronavirus.", "journal": "Antimicrobial agents and chemotherapy", "date": "2020", "authors": "Martinez MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-211945", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211945" } ], "reference": [ { "type": "PubMed", "id": "32152082", "url": "https://glygen.org/publication/PubMed/32152082" } ] }, { "title": "Arbidol combined with LPV/r versus LPV/r alone against Corona Virus Disease 2019: A retrospective cohort study.", "journal": "The Journal of infection", "date": "2020", "authors": "Deng L, Li C, Zeng Q, Liu X, Li X, Zhang H, Hong Z, Xia J", "evidence": [ { "database": "Reactome", "id": "R-HSA-211945", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211945" } ], "reference": [ { "type": "PubMed", "id": "32171872", "url": "https://glygen.org/publication/PubMed/32171872" } ] }, { "title": "A Trial of Lopinavir-Ritonavir in Adults Hospitalized with Severe Covid-19.", "journal": "The New England journal of medicine", "date": "2020", "authors": "Cao B, Wang Y, Wen D, Liu W, Wang J, Fan G, Ruan L, Song B, Cai Y, Wei M, Li X, Xia J, Chen N, Xiang J, Yu T, Bai T, Xie X, Zhang L, Li C, Yuan Y, Chen H, Li H, Huang H, Tu S, Gong F, Liu Y, Wei Y, Dong C, Zhou F, Gu X, Xu J, Liu Z, Zhang Y, Li H, Shang L, Wang K, Li K, Zhou X, Dong X, Qu Z, Lu S, Hu X, Ruan S, Luo S, Wu J, Peng L, Cheng F, Pan L, Zou J, Jia C, Wang J, Liu X, Wang S, Wu X, Ge Q, He J, Zhan H, Qiu F, Guo L, Huang C, Jaki T, Hayden FG, Horby PW, Zhang D, Wang C", "evidence": [ { "database": "Reactome", "id": "R-HSA-211945", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211945" } ], 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