{ "uniprot_canonical_ac": "P07108-1", "uniprot_ac": "P07108", "uniprot_id": "ACBP_HUMAN", "mass": { "chemical_mass": 10044.0, "monoisotopic_mass": 10044.0 }, "refseq": { "ac": "NP_001073331", "name": "acyl-CoA-binding protein isoform 3", "summary": "This gene encodes diazepam binding inhibitor, a protein that is regulated by hormones and is involved in lipid metabolism and the displacement of beta-carbolines and benzodiazepines, which modulate signal transduction at type A gamma-aminobutyric acid receptors located in brain synapses. The protein is conserved from yeast to mammals, with the most highly conserved domain consisting of seven contiguous residues that constitute the hydrophobic binding site for medium- and long-chain acyl-Coenzyme A esters. Diazepam binding inhibitor is also known to mediate the feedback regulation of pancreatic secretion and the postprandial release of cholecystokinin, in addition to its role as a mediator in corticotropin-dependent adrenal steroidogenesis. Three pseudogenes located on chromosomes 6, 8 and 16 have been identified. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073331" }, "gene_names": [ { "name": "DBI", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P07108", "id": "P07108" }, { "name": "ACBD1; ACBP; CCK-RP; EP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073331", "id": "NP_001073331" }, { "name": "DBI", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073331", "id": "NP_001073331" } ], "protein_names": [ { "name": "Acyl-CoA-binding protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P07108" }, { "name": "ACBP", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07108" }, { "name": "DBI", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07108" }, { "name": "Diazepam-binding inhibitor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07108" }, { "name": "EP", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07108" }, { "name": "Endozepine", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07108" }, { "name": "acyl-CoA-binding protein isoform 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073331", "id": "NP_001073331" }, { "name": "diazepam binding inhibitor (GABA receptor modulator, acyl-Coenzyme A binding protein); acyl-Coenzyme A binding domain containing 1; cholecystokinin-releasing peptide, trypsin-sensitive; endozepine; acyl coenzyme A binding protein; epididymis secretory sperm binding protein; acyl-CoA-binding protein; diazepam-binding inhibitor; diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073331", "id": "NP_001073331" } ], "function": [ { "annotation": "Acyl coenzyme A binding protein (ACBP): An aging- and disease-relevant 'autophagy checkpoint'. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001073331", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073331" }, { "database": "PubMed", "id": "37357988", "url": "https://glygen.org/publication/PubMed/37357988" } ] }, { "annotation": "Acyl-CoA binding protein (ACBP) is highly expressed in the developing human kidney.", "evidence": [ { "database": "RefSeq", "id": "NP_001073331", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073331" }, { "database": "PubMed", "id": "35587082", "url": "https://glygen.org/publication/PubMed/35587082" } ] }, { "annotation": "Acyl-CoA-Binding Protein Is a Lipogenic Factor that Triggers Food Intake and Obesity. Erratum:[Cell Metab. 2019 Dec 3;30(6):1171. PMID: 31801056]", "evidence": [ { "database": "RefSeq", "id": "NP_001073331", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073331" }, { "database": "PubMed", "id": "31422903", "url": "https://glygen.org/publication/PubMed/31422903" } ] }, { "annotation": "Binds medium- and long-chain acyl-CoA esters with very high affinity and may function as an intracellular carrier of acyl-CoA esters. It is also able to displace diazepam from the benzodiazepine (BZD) recognition site located on the GABA type A receptor. It is therefore possible that this protein also acts as a neuropeptide to modulate the action of the GABA receptor.", "evidence": [ { "database": "UniProtKB", "id": "P07108", "url": "https://www.uniprot.org/uniprot/P07108#function" } ] }, { "annotation": "Results identify new acyl-CoA binding protein transcripts in human and mouse tissues, generated by alternative first exon usage.", "evidence": [ { "database": "RefSeq", "id": "NP_001073331", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073331" }, { "database": "PubMed", "id": "16055366", "url": "https://glygen.org/publication/PubMed/16055366" } ] }, { "annotation": "Serum DBI and biomarkers of neuroinflammation in Alzheimer's disease and delirium.", "evidence": [ { "database": "RefSeq", "id": "NP_001073331", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073331" }, { "database": "PubMed", "id": "32705487", "url": "https://glygen.org/publication/PubMed/32705487" } ] }, { "annotation": "Targeting fatty acid oxidation via Acyl-CoA binding protein hinders glioblastoma invasion. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001073331", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073331" }, { "database": "PubMed", "id": "37120445", "url": "https://glygen.org/publication/PubMed/37120445" } ] }, { "annotation": "This gene encodes diazepam binding inhibitor, a protein that is regulated by hormones and is involved in lipid metabolism and the displacement of beta-carbolines and benzodiazepines, which modulate signal transduction at type A gamma-aminobutyric acid receptors located in brain synapses. The protein is conserved from yeast to mammals, with the most highly conserved domain consisting of seven contiguous residues that constitute the hydrophobic binding site for medium- and long-chain acyl-Coenzyme A esters. Diazepam binding inhibitor is also known to mediate the feedback regulation of pancreatic secretion and the postprandial release of cholecystokinin, in addition to its role as a mediator in corticotropin-dependent adrenal steroidogenesis. Three pseudogenes located on chromosomes 6, 8 and 16 have been identified. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001073331", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073331" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1004781084", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1004781084" }, { "id": "rs1004781084", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1004781084" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 42, "end_pos": 42, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "2", "chr_pos": "119368303", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T42", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1004781084", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1004781084" }, { "id": "rs1004781084", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1004781084" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 42, "end_pos": 42, "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->R).", "chr_id": "2", "chr_pos": "119368303", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T42", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "99.46", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000155368", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155368" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "99.58", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000155368", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155368" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "98.23", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000155368", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155368" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "91.78", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000155368", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155368" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "98.55", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000155368", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155368" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "99.34", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000155368", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155368" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "98.95", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000155368", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155368" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "98.29", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000155368", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155368" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "97.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000155368", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155368" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "97.9", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000155368", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155368" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "99.19", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000155368", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155368" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "99.44", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000155368", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155368" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "99.36", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000155368", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000155368" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P07108", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07108" } ], "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 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"https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P07108", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07108" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", 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"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": "P07108", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07108" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary 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"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": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P07108", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07108" } ], "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. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07108" } ], "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": 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"https://www.ensembl.org/id/ENSP00000348116.3" } ] } }, { "isoform_ac": "P07108-2", "url": "", "sequence": { "sequence": "MWGDLWLLPPASANPGTGTEAEFEKAAEEVRHLKTKPSDEEMLFIYGHYKQATVGDINTERPGMLDFTGKAKWDAWNELKGTSKEDAMKAYINKVEELKKKYGI", "length": 104, "header": "sp|P07108-2|ACBP_HUMAN Isoform 2 of Acyl-CoA-binding protein OS=Homo sapiens OX=9606 GN=DBI PE=1 SV=2 CANONICAL=P07108-1" }, "locus": { "chromosome": "2", "start_pos": 119372315, "end_pos": 119367585, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000311521.8", "url": "https://www.ensembl.org/id/ENST00000311521.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000311117.4", "url": "https://www.ensembl.org/id/ENSP00000311117.4" } ] } }, { "isoform_ac": "P07108-3", "url": "", "sequence": { "sequence": "MPAFAEFEKAAEEVRHLKTKPSDEEMLFIYGHYKQATVGDINTERPGMLDFTGKAKWDAWNELKGTSKEDAMKAYINKVEELKKKYGI", "length": 88, "header": "sp|P07108-3|ACBP_HUMAN Isoform 3 of Acyl-CoA-binding protein OS=Homo sapiens OX=9606 GN=DBI PE=1 SV=2 CANONICAL=P07108-1" }, "locus": { "chromosome": "2", "start_pos": 119372315, "end_pos": 119367920, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000393103.2", "url": "https://www.ensembl.org/id/ENST00000393103.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000376815.2", "url": "https://www.ensembl.org/id/ENSP00000376815.2" } ] } }, { "isoform_ac": "P07108-4", "url": "", "sequence": { "sequence": "MSQHRAGRRGGVGKRGVRGRELGGQGKYGAGCSECGTRRIAARGEAEFEKAAEEVRHLKTKPSDEEMLFIYGHYKQATVGDINTERPGMLDFTGKAKWDAWNELKGTSKEDAMKAYINKVEELKKKYGI", "length": 129, "header": "sp|P07108-4|ACBP_HUMAN Isoform 4 of Acyl-CoA-binding protein OS=Homo sapiens OX=9606 GN=DBI PE=1 SV=2 CANONICAL=P07108-1" }, "locus": { "chromosome": "2", "start_pos": 119372315, "end_pos": 119367052, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000627093.2", "url": "https://www.ensembl.org/id/ENST00000627093.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000486281.1", "url": "https://www.ensembl.org/id/ENSP00000486281.1" } ] } }, { "isoform_ac": "P07108-5", "url": "", "sequence": { "sequence": "MERWGKGLHGLEERGDSVPIPKHRAGRRGGVGKRGVRGRELGGQGKYGAGCSECGTRRIAARGEAEFEKAAEEVRHLKTKPSDEEMLFIYGHYKQATVGDINTERPGMLDFTGKAKWDAWNELKGTSKEDAMKAYINKVEELKKKYGI", "length": 148, "header": "sp|P07108-5|ACBP_HUMAN Isoform 5 of Acyl-CoA-binding protein OS=Homo sapiens OX=9606 GN=DBI PE=1 SV=2 CANONICAL=P07108-1" }, "locus": { "chromosome": "2", "start_pos": 119372315, "end_pos": 119367337, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000627305.2", "url": "https://www.ensembl.org/id/ENST00000627305.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000486361.1", "url": "https://www.ensembl.org/id/ENSP00000486361.1" } ] } }, { "isoform_ac": "P07108-6", "url": "", "sequence": { "sequence": "MSQAEFEKAAEEVRHLKTKPSDEEMLFIYGHYKQATVGDINTGMQSGGWKGICSSKQAQQLRLEVPGNFTLKLPEALLFRWGMVMVPEVEKTMFRILSVSSSNRIQILVLEGLYWPSPAATLY", "length": 123, "header": "sp|P07108-6|ACBP_HUMAN Isoform 6 of Acyl-CoA-binding protein OS=Homo sapiens OX=9606 GN=DBI PE=1 SV=2 CANONICAL=P07108-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 42, "start_aa": "Thr", "end_pos": 42, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr42", "evidence": [ { "id": "P07108", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07108" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ] } ], "phosphorylation": [ { "start_pos": 21, "end_pos": 21, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P07108", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07108" }, { "database": "PubMed", "id": "36280213", "url": "" } ], "site_lbl": "Ser21" }, { "start_pos": 29, "end_pos": 29, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "P07108", "url": "https://www.uniprot.org/uniprot/P07108" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "P07108", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07108" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" }, { "database": "phospho.ELM", "id": "P07108", "url": "http://phospho.elm.eu.org/byAccession/P07108.html" } ], "site_lbl": "Tyr29" }, { "start_pos": 42, "end_pos": 42, "kinase_uniprot_canonical_ac": "Q05655-1", "kinase_gene_name": "PRKCD", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P07108", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07108" }, { "database": "PubMed", "id": "18194441", "url": "https://glygen.org/publication/PubMed/18194441" } ], "site_lbl": "Thr42" }, { "start_pos": 51, "end_pos": 51, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P07108", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07108" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr51" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "BFIT, a unique acyl-CoA thioesterase induced in thermogenic brown adipose tissue: cloning, organization of the human gene and assessment of a potential link to obesity.", "journal": "The Biochemical journal", "date": "2001", "authors": "Adams SH, Chui C, Schilbach SL, Yu XX, Goddard AD, Grimaldi JC, Lee J, Dowd P, Colman S, Lewin DA", "evidence": [ { "database": "Reactome", "id": "R-HSA-77289", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77289" } ], "reference": [ { "type": "PubMed", "id": "11696000", "url": "https://glygen.org/publication/PubMed/11696000" } ] }, { "title": "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.", "journal": "Nat. Biotechnol.", "date": "2003", "authors": "Gevaert K, Goethals M, Martens L, Van Damme J, Staes A, Thomas GR, Vandekerckhove J", "evidence": [ { "database": "UniProtKB", "id": "P07108", "url": "https://www.uniprot.org/uniprot/P07108" } ], "reference": [ { "type": "PubMed", "id": "12665801", "url": "https://glygen.org/publication/PubMed/12665801" } ] }, { "title": "Cloning, expression, characterization, and interaction of two components of a human mitochondrial fatty acid synthase. Malonyltransferase and acyl carrier protein.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Zhang L, Joshi AK, Smith S", "evidence": [ { "database": "Reactome", "id": "R-HSA-77289", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77289" } ], "reference": [ { "type": "PubMed", "id": "12882974", "url": "https://glygen.org/publication/PubMed/12882974" } ] }, { "title": "Purification and analysis of growth regulating proteins secreted by a human melanoma cell line.", "journal": "Melanoma Res.", "date": "1992", "authors": "Apfel R, Lottspeich F, Hoppe J, Behl C, D\u00fcrr G, Bogdahn U", "evidence": [ { "database": "UniProtKB", "id": "P07108", "url": "https://www.uniprot.org/uniprot/P07108" } ], "reference": [ { "type": "PubMed", "id": "1292782", "url": "https://glygen.org/publication/PubMed/1292782" } ] }, { "title": "Identification of fatty acid oxidation disorder patients with lowered acyl-CoA thioesterase activity in human skin fibroblasts.", "journal": "European journal of clinical investigation", "date": "2005", "authors": "Hunt MC, Ruiter J, Mooyer P, van Roermond CW, Ofman R, Ijlst L, Wanders RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-77289", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77289" } ], "reference": [ { "type": "PubMed", "id": "15638818", "url": "https://glygen.org/publication/PubMed/15638818" } ] }, { "title": "Identification of new acyl-CoA binding protein transcripts in human and mouse.", "journal": "Int. J. Biochem. Cell Biol.", "date": "2005", "authors": "Nitz I, Doring F, Schrezenmeir J, Burwinkel B", "evidence": [ { "database": "UniProtKB", "id": "P07108", "url": "https://www.uniprot.org/uniprot/P07108" }, { "database": "RefSeq", "id": "NP_001073331", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073331" } ], "reference": [ { "type": "PubMed", "id": "16055366", "url": "https://glygen.org/publication/PubMed/16055366" } ] }, { "title": "A functional variant in the transcriptional regulatory region of gene LOC344967 cosegregates with disease phenotype in familial nasopharyngeal carcinoma.", "journal": "Cancer research", "date": "2006", "authors": "Jiang RC, Qin HD, Zeng MS, Huang W, Feng BJ, Zhang F, Chen HK, Jia WH, Chen LZ, Feng QS, Zhang RH, Yu XJ, Zheng MZ, Zeng YX", "evidence": [ { "database": "Reactome", "id": "R-HSA-77289", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77289" } ], "reference": [ { "type": "PubMed", "id": "16423998", "url": "https://glygen.org/publication/PubMed/16423998" } ] }, { "title": "Crystal structure of human thioesterase superfamily member 2.", "journal": "Biochemical and biophysical research communications", "date": "2006", "authors": "Cheng Z, Song F, Shan X, Wei Z, Wang Y, Dunaway-Mariano D, Gong W", "evidence": [ { "database": "Reactome", "id": "R-HSA-77289", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77289" } ], "reference": [ { "type": "PubMed", "id": "16934754", "url": "https://glygen.org/publication/PubMed/16934754" } ] }, { "title": "Analysis of the mouse and human acyl-CoA thioesterase (ACOT) gene clusters shows that convergent, functional evolution results in a reduced number of human peroxisomal ACOTs.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2006", "authors": "Hunt MC, Rautanen A, Westin MA, Svensson LT, Alexson SE", "evidence": [ { "database": "Reactome", "id": "R-HSA-77289", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77289" } ], "reference": [ { "type": "PubMed", "id": "16940157", "url": "https://glygen.org/publication/PubMed/16940157" } ] }, { "title": "High resolution crystal structures of unliganded and liganded human liver ACBP reveal a new mode of binding for the acyl-CoA ligand.", "journal": "Proteins", "date": "2007", "authors": "Taskinen JP, van Aalten DM, Knudsen J, Wierenga RK", "evidence": [ { "database": "UniProtKB", "id": "P07108", "url": "https://www.uniprot.org/uniprot/P07108" } ], "reference": [ { "type": "PubMed", "id": "17044054", "url": "https://glygen.org/publication/PubMed/17044054" } ] }, { "title": "Evidence for 26 distinct acyl-coenzyme A synthetase genes in the human genome.", "journal": "Journal of lipid research", "date": "2007", "authors": "Watkins PA, Maiguel D, Jia Z, Pevsner J", "evidence": [ { "database": "Reactome", "id": "R-HSA-77289", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77289" } ], "reference": [ { "type": "PubMed", "id": "17762044", "url": "https://glygen.org/publication/PubMed/17762044" } ] }, { "title": "Acyl-CoA-binding protein (ACBP) localizes to the endoplasmic reticulum and Golgi in a ligand-dependent manner in mammalian cells.", "journal": "Biochem. J.", "date": "2008", "authors": "Hansen JS, Faergeman NJ, Kragelund BB, Knudsen J", "evidence": [ { "database": "UniProtKB", "id": "P07108", "url": "https://www.uniprot.org/uniprot/P07108" }, { "database": "Reactome", "id": "R-HSA-77289", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77289" } ], "reference": [ { "type": "PubMed", "id": "17953517", "url": "https://glygen.org/publication/PubMed/17953517" } ] }, { "title": "Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer.", "journal": "Cell", "date": "2007", "authors": "Rikova K, Guo A, Zeng Q, Possemato A, Yu J, Haack H, Nardone J, Lee K, Reeves C, Li Y, Hu Y, Tan Z, Stokes M, Sullivan L, Mitchell J, Wetzel R, Macneill J, Ren JM, Yuan J, Bakalarski CE, Villen J, Kornhauser JM, Smith B, Li D, Zhou X, Gygi SP, Gu TL, Polakiewicz RD, Rush J, Comb MJ", "evidence": [ { "database": "iPTMnet", "id": "P07108-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07108-1" } ], "reference": [ { "type": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" } ] }, { "title": "Acyl coenzyme A-binding protein (ACBP) is phosphorylated and secreted by retinal Muller astrocytes following protein kinase C activation.", "journal": "Journal of neurochemistry", "date": "2008", "authors": "Qian Z, Bilderback TR, Barmack NH", "evidence": [ { "database": "iPTMnet", "id": "P07108", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07108" } ], "reference": [ { "type": "PubMed", "id": "18194441", "url": "https://glygen.org/publication/PubMed/18194441" } ] }, { "title": "Characterization of an acyl-coenzyme A binding protein predominantly expressed in human primitive progenitor cells.", "journal": "Journal of lipid research", "date": "2008", "authors": "Soupene E, Serikov V, Kuypers FA", "evidence": [ { "database": "Reactome", "id": "R-HSA-77289", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77289" } ], "reference": [ { "type": "PubMed", "id": "18268358", "url": "https://glygen.org/publication/PubMed/18268358" } ] }, { "title": "The mechanisms of human hotdog-fold thioesterase 2 (hTHEM2) substrate recognition and catalysis illuminated by a structure and function based analysis.", "journal": "Biochemistry", "date": "2009", "authors": "Cao J, Xu H, Zhao H, Gong W, Dunaway-Mariano D", "evidence": [ { "database": "Reactome", "id": "R-HSA-77289", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77289" } ], "reference": [ { "type": "PubMed", "id": "19170545", "url": "https://glygen.org/publication/PubMed/19170545" } ] }, { "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": "P07108", "url": "https://www.uniprot.org/uniprot/P07108" } ], "reference": [ { "type": "PubMed", "id": "19608861", "url": "https://glygen.org/publication/PubMed/19608861" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "P07108", "url": "https://www.uniprot.org/uniprot/P07108" }, { "database": "iPTMnet", "id": "P07108-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07108-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "PC-TP/StARD2: Of membranes and metabolism.", "journal": "Trends in endocrinology and metabolism: TEM", "date": "2010", "authors": "Kang HW, Wei J, Cohen DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-77289", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77289" } ], "reference": [ { "type": "PubMed", "id": "20338778", "url": "https://glygen.org/publication/PubMed/20338778" } ] }, { "title": "Specific regulation of low-abundance transcript variants encoding human Acyl-CoA binding protein (ACBP) isoforms.", "journal": "J. Cell. Mol. Med.", "date": "2011", "authors": "Nitz Inke, Kruse Marie-Luise, Klapper Maja, D\u00f6ring Frank", "evidence": [ { "database": "UniProtKB", "id": "P07108", "url": "https://www.uniprot.org/uniprot/P07108" } ], "reference": [ { "type": "PubMed", "id": "20345851", "url": "https://glygen.org/publication/PubMed/20345851" } ] }, { "title": "Functional and structural properties of mammalian acyl-coenzyme A thioesterases.", "journal": "Progress in lipid research", "date": "2010", "authors": "Kirkby B, Roman N, Kobe B, Kellie S, Forwood JK", "evidence": [ { "database": "Reactome", "id": "R-HSA-77289", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77289" } ], "reference": [ { "type": "PubMed", "id": "20470824", "url": "https://glygen.org/publication/PubMed/20470824" } ] }, { "title": "Identification and characterization of new long chain acyl-CoA dehydrogenases.", "journal": "Molecular genetics and metabolism", "date": "2011", "authors": "He M, Pei Z, Mohsen AW, Watkins P, Murdoch G, Van Veldhoven PP, Ensenauer R, Vockley J", "evidence": [ { "database": "Reactome", "id": "R-HSA-77289", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77289" } ], "reference": [ { "type": "PubMed", "id": "21237683", "url": "https://glygen.org/publication/PubMed/21237683" } ] }, { "title": "Identification of a novel human Acyl-CoA binding protein isoform with a unique C-terminal domain.", "journal": "IUBMB Life", "date": "2011", "authors": "Ludewig Andreas H, Nitz Inke, Klapper Maja, D\u00f6ring Frank", "evidence": [ { "database": "UniProtKB", "id": "P07108", "url": "https://www.uniprot.org/uniprot/P07108" } ], "reference": [ { "type": "PubMed", "id": "21698759", "url": "https://glygen.org/publication/PubMed/21698759" } ] }, { "title": "The first identification of lysine malonylation substrates and its regulatory enzyme.", "journal": "Molecular & cellular proteomics : MCP", "date": "2011", "authors": "Peng C, Lu Z, Xie Z, Cheng Z, Chen Y, Tan M, Luo H, Zhang Y, He W, Yang K, Zwaans BM, Tishkoff D, Ho L, Lombard D, He TC, Dai J, Verdin E, Ye Y, Zhao Y", "evidence": [ { "database": "UniProtKB", "id": "P07108", "url": "https://www.uniprot.org/uniprot/P07108" } ], "reference": [ { "type": "PubMed", "id": "21908771", "url": "https://glygen.org/publication/PubMed/21908771" } ] }, { "title": "The emerging role of acyl-CoA thioesterases and acyltransferases in regulating peroxisomal lipid metabolism.", "journal": "Biochimica et biophysica acta", "date": "2012", "authors": "Hunt MC, Siponen MI, Alexson SE", "evidence": [ { "database": "Reactome", "id": "R-HSA-77289", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77289" } ], "reference": [ { "type": "PubMed", "id": "22465940", "url": "https://glygen.org/publication/PubMed/22465940" } ] }, { "title": "Acyl coenzyme A thioesterase Them5/Acot15 is involved in cardiolipin remodeling and fatty liver development.", "journal": "Molecular and cellular biology", "date": "2012", "authors": "Zhuravleva E, Gut H, Hynx D, Marcellin D, Bleck CK, Genoud C, Cron P, Keusch JJ, Dummler B, Esposti MD, Hemmings BA", "evidence": [ { "database": "Reactome", "id": "R-HSA-77289", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77289" } ], "reference": [ { "type": "PubMed", "id": "22586271", "url": "https://glygen.org/publication/PubMed/22586271" } ] }, { "title": "Correlation of structure and function in the human hotdog-fold enzyme hTHEM4.", "journal": "Biochemistry", "date": "2012", "authors": "Zhao H, Lim K, Choudry A, Latham JA, Pathak MC, Dominguez D, Luo L, Herzberg O, Dunaway-Mariano D", "evidence": [ { "database": "Reactome", "id": "R-HSA-77289", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77289" } ], "reference": [ { "type": "PubMed", "id": "22871024", "url": "https://glygen.org/publication/PubMed/22871024" } ] }, { "title": "New players on the metabolic stage: How do you like Them Acots?", "journal": "Adipocyte", "date": "2013", "authors": "Cohen DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-77289", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77289" } ], "reference": [ { "type": "PubMed", "id": "23700546", "url": "https://glygen.org/publication/PubMed/23700546" } ] }, { "title": "Phosphatidylcholine transfer protein interacts with thioesterase superfamily member 2 to attenuate insulin signaling.", "journal": "Science signaling", "date": "2013", "authors": "Ersoy BA, Tarun A, D'Aquino K, Hancer NJ, Ukomadu C, White MF, Michel T, Manning BD, Cohen DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-77289", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77289" } ], "reference": [ { "type": "PubMed", "id": "23901139", "url": "https://glygen.org/publication/PubMed/23901139" } ] }, { "title": "Acyl-CoA binding protein and epidermal barrier function.", "journal": "Biochimica et biophysica acta", "date": "2014", "authors": "Bloksgaard M, Neess D, Faergeman NJ, Mandrup S", "evidence": [ { "database": "Reactome", "id": "R-HSA-77289", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77289" } ], "reference": [ { "type": "PubMed", "id": "24080521", "url": "https://glygen.org/publication/PubMed/24080521" } ] }, { "title": "Thioesterase superfamily member 2 (Them2) and phosphatidylcholine transfer protein (PC-TP) interact to promote fatty acid oxidation and control glucose utilization.", "journal": "Molecular and cellular biology", "date": "2014", "authors": "Kawano Y, Ersoy BA, Li Y, Nishiumi S, Yoshida M, Cohen DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-77289", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77289" } ], "reference": [ { "type": "PubMed", "id": "24732803", "url": "https://glygen.org/publication/PubMed/24732803" } ] }, { "title": "Structural basis for regulation of the human acetyl-CoA thioesterase 12 and interactions with the steroidogenic acute regulatory protein-related lipid transfer (START) domain.", "journal": "The Journal of biological chemistry", "date": "2014", "authors": "Swarbrick CM, Roman N, Cowieson N, Patterson EI, Nanson J, Siponen MI, Berglund H, Lehtio L, Forwood JK", "evidence": [ { "database": "Reactome", "id": "R-HSA-77289", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77289" } ], "reference": [ { "type": "PubMed", "id": "25002576", "url": "https://glygen.org/publication/PubMed/25002576" } ] }, { "title": "Ligand binding to the ACBD6 protein regulates the acyl-CoA transferase reactions in membranes.", "journal": "Journal of lipid research", "date": "2015", "authors": "Soupene E, Kuypers FA", "evidence": [ { "database": "Reactome", "id": "R-HSA-77289", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77289" } ], "reference": [ { "type": "PubMed", "id": "26290611", "url": "https://glygen.org/publication/PubMed/26290611" } ] }, { "title": "Bovine and human cDNA sequences encoding a putative benzodiazepine receptor ligand.", "journal": "DNA", "date": "1987", "authors": "Webb NR, Rose TM, Malik N, Marquardt H, Shoyab M, 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Natl. Acad. Sci. U.S.A.", "date": "1986", "authors": "Gray PW, Glaister D, Seeburg PH, Guidotti A, Costa E", "evidence": [ { "database": "UniProtKB", "id": "P07108", "url": "https://www.uniprot.org/uniprot/P07108" } ], "reference": [ { "type": "PubMed", "id": "3020548", "url": "https://glygen.org/publication/PubMed/3020548" } ] }, { "title": "Acyl-CoA-Binding Protein Is a Lipogenic Factor that Triggers Food Intake and Obesity.", "journal": "Cell metabolism", "date": "2019", "authors": "Bravo-San Pedro JM, Sica V, Martins I, Pol J, Loos F, Maiuri MC, Durand S, Bossut N, Aprahamian F, Anagnostopoulos G, Niso-Santano M, Aranda F, Ramirez-Pardo I, Lallement J, Denom J, Boedec E, Gorwood P, Ramoz N, Clement K, Pelloux V, Rohia A, Pattou F, Raverdy V, Caiazzo R, Denis RGP, Boya P, Galluzzi L, Madeo F, Migrenne-Li S, Cruciani-Guglielmacci C, Tavernarakis N, Lopez-Otin C, Magnan C, Kroemer G", "evidence": [ { "database": "RefSeq", "id": "NP_001073331", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073331" } ], "reference": [ { "type": "PubMed", "id": "31422903", "url": "https://glygen.org/publication/PubMed/31422903" } ] }, { "title": "Serum DBI and biomarkers of neuroinflammation in Alzheimer's disease and delirium.", "journal": "Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology", "date": "2021", "authors": "Conti E, Andreoni S, Tomaselli D, Storti B, Brovelli F, Acampora R, Da Re F, Appollonio I, Ferrarese C, Tremolizzo L", "evidence": [ { "database": "RefSeq", "id": "NP_001073331", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073331" } ], "reference": [ { "type": "PubMed", "id": "32705487", "url": "https://glygen.org/publication/PubMed/32705487" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "P07108", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07108" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P07108", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07108" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Complete amino acid sequences of bovine and human endozepines. Homology with rat diazepam binding inhibitor.", "journal": "The Journal of biological chemistry", "date": "1986", "authors": "Marquardt H, Todaro GJ, Shoyab M", "evidence": [ { "database": "UniProtKB", "id": "P07108", "url": "https://www.uniprot.org/uniprot/P07108" } ], "reference": [ { "type": "PubMed", "id": "3525533", "url": "https://glygen.org/publication/PubMed/3525533" } ] }, { "title": "Acyl-CoA binding protein (ACBP) is highly expressed in the developing human kidney.", "journal": "European review for medical and pharmacological sciences", "date": "2022", "authors": "Piras M, Gerosa C, Fanni D, Cau F, Coni P, Murru R, Denotti G, Orru G, Scano A, Ledda F, Van Eyken P, Coghe F, Faa G, Castagnola M", "evidence": [ { "database": "RefSeq", "id": "NP_001073331", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073331" } ], "reference": [ { "type": "PubMed", "id": "35587082", "url": "https://glygen.org/publication/PubMed/35587082" } ] }, { "title": "Targeting fatty acid oxidation via Acyl-CoA binding protein hinders glioblastoma invasion.", "journal": "Cell death & disease", "date": "2023-04-29", "authors": "Duman Ceren, Di Marco Barbara, Nevedomskaya Ekaterina, Ulug Berk, Lesche Ralf, Christian Sven, Alfonso Julieta", "evidence": [ { "database": "RefSeq", "id": "NP_001073331", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073331" } ], "reference": [ { "type": "PubMed", "id": "37120445", "url": "https://glygen.org/publication/PubMed/37120445" } ] }, { "title": "Acyl coenzyme A binding protein (ACBP): An aging- and disease-relevant `autophagy checkpoint`.", "journal": "Aging cell", "date": "2023-09", "authors": "Mont\u00e9gut L\u00e9a, Abdellatif Mahmoud, Moti\u00f1o Omar, Madeo Frank, Martins Isabelle, Quesada Victor, L\u00f3pez-Ot\u00edn Carlos, Kroemer Guido", "evidence": [ { "database": "RefSeq", "id": "NP_001073331", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073331" } ], "reference": [ { "type": "PubMed", "id": "37357988", "url": "https://glygen.org/publication/PubMed/37357988" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "P07108", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07108" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "The oxoacyl-coenzyme A thiolases of animal tissues.", "journal": "The Biochemical journal", "date": "1973", "authors": "Middleton B", "evidence": [ { "database": "Reactome", "id": "R-HSA-77289", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-77289" } ], "reference": [ { "type": "PubMed", "id": "4721607", "url": "https://glygen.org/publication/PubMed/4721607" } ] }, { "title": "The characterization of two diazepam binding inhibitor (DBI) transcripts in humans.", "journal": "Biochem. 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