{ "uniprot_canonical_ac": "P12235-1", "uniprot_ac": "P12235", "uniprot_id": "ADT1_HUMAN", "mass": { "chemical_mass": 33064.0, "monoisotopic_mass": 33064.0 }, "refseq": { "ac": "NP_001142", "name": "ADP/ATP translocase 1", "summary": "This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitochondrial matrix and ATP from the mitochondrial matrix into the cytoplasm. The protein forms a homodimer embedded in the inner mitochondria membrane. Mutations in this gene have been shown to result in autosomal dominant progressive external opthalmoplegia and familial hypertrophic cardiomyopathy. [provided by RefSeq, Jun 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001142" }, "gene_names": [ { "name": "SLC25A4", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P12235", "id": "P12235" }, { "name": "AAC1; ANT; ANT 1; ANT1; MTDPS12; MTDPS12A; PEO2; PEO3; PEOA2; T1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001142", "id": "NP_001142" }, { "name": "AAC1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P12235", "id": "P12235" }, { "name": "ANT1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P12235", "id": "P12235" }, { "name": "SLC25A4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001142", "id": "NP_001142" } ], "protein_names": [ { "name": "ADP/ATP translocase 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P12235" }, { "name": "ADP,ATP carrier protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12235" }, { "name": "ADP,ATP carrier protein, heart/skeletal muscle isoform T1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12235" }, { "name": "ADP/ATP translocase 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001142", "id": "NP_001142" }, { "name": "ANT 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12235" }, { "name": "Adenine nucleotide translocator 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12235" }, { "name": "Solute carrier family 25 member 4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12235" }, { "name": "adenine nucleotide translocator 1 (skeletal muscle); heart/skeletal muscle ATP/ADP translocator; ADP,ATP carrier protein 1; ADP,ATP carrier protein, heart/skeletal muscle; solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4; progressive external ophthalmoplegia 3; progressive external ophthalmoplegia 2; ADP/ATP carrier 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001142", "id": "NP_001142" } ], "function": [ { "annotation": "ADP:ATP antiporter that mediates import of ADP into the mitochondrial matrix for ATP synthesis, and export of ATP out to fuel the cell (PubMed:21586654, PubMed:27693233). Cycles between the cytoplasmic-open state (c-state) and the matrix-open state (m-state): operates by the alternating access mechanism with a single substrate-binding site intermittently exposed to either the cytosolic (c-state) or matrix (m-state) side of the inner mitochondrial membrane (By similarity). In addition to its ADP:ATP antiporter activity, also involved in mitochondrial uncoupling and mitochondrial permeability transition pore (mPTP) activity (PubMed:31883789). Plays a role in mitochondrial uncoupling by acting as a proton transporter: proton transport uncouples the proton flows via the electron transport chain and ATP synthase to reduce the efficiency of ATP production and cause mitochondrial thermogenesis (By similarity). Proton transporter activity is inhibited by ADP:ATP antiporter activity, suggesting that SLC25A4/ANT1 acts as a master regulator of mitochondrial energy output by maintaining a delicate balance between ATP production (ADP:ATP antiporter activity) and thermogenesis (proton transporter activity) (By similarity). Proton transporter activity requires free fatty acids as cofactor, but does not transport it (By similarity). Also plays a key role in mPTP opening, a non-specific pore that enables free passage of the mitochondrial membranes to solutes of up to 1.5 kDa, and which contributes to cell death (PubMed:31883789). It is however unclear if SLC25A4/ANT1 constitutes a pore-forming component of mPTP or regulates it (By similarity). Acts as a regulator of mitophagy independently of ADP:ATP antiporter activity: promotes mitophagy via interaction with TIMM44, leading to inhibit the presequence translocase TIMM23, thereby promoting stabilization of PINK1 (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P12235", "url": "https://www.uniprot.org/uniprot/P12235#function" }, { "database": "PubMed", "id": "27693233", "url": "https://glygen.org/publication/PubMed/27693233" }, { "database": "UniProtKB", "id": "P48962", "url": "https://www.uniprot.org/uniprot/P48962#function" }, { "database": "PubMed", "id": "31883789", "url": "https://glygen.org/publication/PubMed/31883789" }, { "database": "UniProtKB", "id": "G2QNH0", "url": "https://www.uniprot.org/uniprot/G2QNH0#function" }, { "database": "PubMed", "id": "21586654", "url": "https://glygen.org/publication/PubMed/21586654" } ] }, { "annotation": "ANT1 overexpression models: Some similarities with facioscapulohumeral muscular dystrophy.", "evidence": [ { "database": "RefSeq", "id": "NP_001142", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001142" }, { "database": "PubMed", "id": "36030628", "url": "https://glygen.org/publication/PubMed/36030628" } ] }, { "annotation": "Catalyzes the exchange of ADP and ATP across the membrane.", "evidence": [ { "database": "UniProtKB", "id": "V9GYG0", "url": "https://www.uniprot.org/uniprot/V9GYG0#function" }, { "database": "UniProtKB", "id": "RU368008", "url": "https://www.uniprot.org/uniprot/RU368008#function" } ] }, { "annotation": "Conformational change of adenine nucleotide translocase-1 mediates cisplatin resistance induced by EBV-LMP1.", "evidence": [ { "database": "RefSeq", "id": "NP_001142", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001142" }, { "database": "PubMed", "id": "34755470", "url": "https://glygen.org/publication/PubMed/34755470" } ] }, { "annotation": "Human mitochondrial ADP/ATP carrier SLC25A4 operates with a ping-pong kinetic mechanism.", "evidence": [ { "database": "RefSeq", "id": "NP_001142", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001142" }, { "database": "PubMed", "id": "37278158", "url": "https://glygen.org/publication/PubMed/37278158" } ] }, { "annotation": "Loss of ANT1 Increases Fibrosis and Epithelial Cell Senescence in Idiopathic Pulmonary Fibrosis.", "evidence": [ { "database": "RefSeq", "id": "NP_001142", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001142" }, { "database": "PubMed", "id": "37487137", "url": "https://glygen.org/publication/PubMed/37487137" } ] }, { "annotation": "Site-specific acetylation of adenine nucleotide translocase 1 at lysine 23 in human muscle.", "evidence": [ { "database": "RefSeq", "id": "NP_001142", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001142" }, { "database": "PubMed", "id": "34332952", "url": "https://glygen.org/publication/PubMed/34332952" } ] }, { "annotation": "This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitochondrial matrix and ATP from the mitochondrial matrix into the cytoplasm. The protein forms a homodimer embedded in the inner mitochondria membrane. Mutations in this gene have been shown to result in autosomal dominant progressive external opthalmoplegia and familial hypertrophic cardiomyopathy. [provided by RefSeq, Jun 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_001142", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001142" } ] } ], "disease": [ { "disease_id": "DOID:0080130", "recommended_name": { "id": "DOID:0080130", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080130", "name": "mitochondrial DNA depletion syndrome 12a", "description": "A mitochondrial DNA depletion syndrome that is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 25 member 4 gene on chromosome 4q35." }, "synonyms": [ { "id": "MONDO:0014959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014959", "name": "mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant", "description": "" }, { "id": "MONDO:0014959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014959", "name": "MTDPS12A", "description": "" }, { "id": "MONDO:0014959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014959", "name": "mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD", "description": "" }, { "id": "MONDO:0014959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014959", "name": "mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant", "description": "" }, { "id": "MONDO:0014959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014959", "name": "mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant; MTDPS12A", "description": "" }, { "id": "MIM:617184", "resource": "MIM", "url": "https://www.omim.org/entry/617184", "name": "Mitochondrial DNA depletion syndrome 12A, cardiomyopathic type", "description": "Mitochondrial DNA depletion syndrome 12A, cardiomyopathic type" } ], "evidence": [ { "id": "617184", "database": "MIM", "url": "https://www.omim.org/entry/617184" } ] }, { "disease_id": "DOID:0080335", "recommended_name": { "id": "DOID:0080335", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080335", "name": "mitochondrial DNA depletion syndrome 12b", "description": "A mitochondrial DNA depletion syndrome that is characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, muscle weakness, and atrophy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the the solute carrier family 25 member 4 on chromosome 4q35." }, "synonyms": [ { "id": "MONDO:0014175", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014175", "name": "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive", "description": "An inherited condition caused by mutation(s) in the SLC25A4 gene, encoding ADP/ATP translocase 1. It is characterized by hypertrophic cardiomyopathy." }, { "id": "MONDO:0014175", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014175", "name": "MTDPS12B", "description": "" }, { "id": "MONDO:0014175", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014175", "name": "mitochondrial DNA depletion syndrome 12", "description": "" }, { "id": "MONDO:0014175", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014175", "name": "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR", "description": "" }, { "id": "MONDO:0014175", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014175", "name": "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), AR", "description": "" }, { "id": "MONDO:0014175", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014175", "name": "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive", "description": "" }, { "id": "MONDO:0014175", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014175", "name": "MTDPS12", "description": "" }, { "id": "MONDO:0014175", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014175", "name": "mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)", "description": "" }, { "id": "MONDO:0014175", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014175", "name": "mitochondrial DNA depletion syndrome type 12", "description": "" }, { "id": "MIM:615418", "resource": "MIM", "url": "https://www.omim.org/entry/615418", "name": "Mitochondrial DNA depletion syndrome 12B, cardiomyopathic type", "description": "Mitochondrial DNA depletion syndrome 12B, cardiomyopathic type" } ], "evidence": [ { "id": "615418", "database": "MIM", "url": "https://www.omim.org/entry/615418" } ] }, { "disease_id": "DOID:0111517", "recommended_name": { "id": "DOID:0111517", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111517", "name": "autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2", "description": "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SLC25A4 gene on chromosome 4q35.1." }, "synonyms": [ { "id": "DOID:0111517", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111517", "name": "PEOA2", "description": "" }, { "id": "DOID:0111517", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111517", "name": "autosomal dominant progressive external ophthalmoplegia 2", "description": "" }, { "id": "MONDO:0012238", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012238", "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2", "description": "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the SLC25A4 gene." }, { "id": "MONDO:0012238", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012238", "name": "SLC25A4 progressive external ophthalmoplegia with mitochondrial DNA deletions", "description": "" }, { "id": "MONDO:0012238", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012238", "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in SLC25A4", "description": "" }, { "id": "MONDO:0012238", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012238", "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2", "description": "" }, { "id": "MONDO:0012238", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012238", "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 2", "description": "" }, { "id": "MONDO:0012238", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012238", "name": "PEOA2", "description": "" }, { "id": "MONDO:0012238", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012238", "name": "progressive external ophthalmoplegia, autosomal dominant 2", "description": "" }, { "id": "MIM:609283", "resource": "MIM", "url": "https://www.omim.org/entry/609283", "name": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2", "description": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2" } ], "evidence": [ { "id": "609283", "database": "MIM", "url": "https://www.omim.org/entry/609283" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "94.32", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151729", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151729" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "86.89", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151729", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151729" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "95.74", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151729", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151729" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "89.38", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151729", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151729" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "97.19", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151729", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151729" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "89.85", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151729", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151729" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "92.13", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151729", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151729" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "90.62", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151729", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151729" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "91.06", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151729", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151729" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "89.73", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151729", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151729" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "88.59", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151729", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151729" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "93.74", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151729", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151729" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "89.57", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151729", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151729" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P12235", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12235" } ], "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", 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"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, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P12235", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12235" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor 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"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": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P12235", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12235" } ], "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", 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Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12235" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" } ] } ], "phosphorylation": [ { "start_pos": 191, "end_pos": 191, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "P12235", "url": "http://phospho.elm.eu.org/byAccession/P12235.html" }, { "database": "iPTMnet", "id": "P12235", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12235" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" } ], "site_lbl": "Tyr191" }, { "start_pos": 7, "end_pos": 7, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P12235", "url": "https://www.uniprot.org/uniprot/P12235" } ], "site_lbl": "Ser7" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Identification of amino acid residues responsible for the pyrimidine and purine nucleoside specificities of human concentrative Na(+) nucleoside cotransporters hCNT1 and hCNT2.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Loewen SK, Ng AM, Yao SY, Cass CE, Baldwin SA, Young JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-83936", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-83936" } ], "reference": [ { "type": "PubMed", "id": "10455109", "url": "https://glygen.org/publication/PubMed/10455109" } ] }, { "title": "The HIV-1 viral protein R induces apoptosis via a direct effect on the mitochondrial permeability transition pore.", "journal": "The Journal of experimental medicine", "date": "2000", "authors": "Jacotot E, Ravagnan L, Loeffler M, Ferri KF, Vieira HL, Zamzami N, Costantini P, Druillennec S, Hoebeke J, Briand JP, Irinopoulou T, Daugas E, Susin SA, Cointe D, Xie ZH, Reed JC, Roques BP, Kroemer G", "evidence": [ { "database": "Reactome", "id": "R-HSA-180897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-180897" } ], "reference": [ { "type": "PubMed", "id": "10620603", "url": "https://glygen.org/publication/PubMed/10620603" } ] }, { "title": "Role of adenine nucleotide translocator 1 in mtDNA maintenance.", "journal": "Science (New York, N.Y.)", "date": "2000", "authors": "Kaukonen J, Juselius JK, Tiranti V, Kyttala A, Zeviani M, Comi GP, Keranen S, Peltonen L, Suomalainen A", "evidence": [ { "database": "UniProtKB", "id": "P12235", "url": "https://www.uniprot.org/uniprot/P12235" } ], "reference": [ { "type": "PubMed", "id": "10926541", "url": "https://glygen.org/publication/PubMed/10926541" } ] }, { "title": "Molecular identification and characterization of novel human and mouse concentrative Na+-nucleoside cotransporter proteins (hCNT3 and mCNT3) broadly selective for purine and pyrimidine nucleosides (system cib).", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Ritzel MW, Ng AM, Yao SY, Graham K, Loewen SK, Smith KM, Ritzel RG, Mowles DA, Carpenter P, Chen XZ, Karpinski E, Hyde RJ, Baldwin SA, Cass CE, Young JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-83936", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-83936" } ], "reference": [ { "type": "PubMed", "id": "11032837", "url": "https://glygen.org/publication/PubMed/11032837" } ] }, { "title": "A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family.", "journal": "Neurology", "date": "2001", "authors": "Napoli L, Bordoni A, Zeviani M, Hadjigeorgiou GM, Sciacco M, Tiranti V, Terentiou A, Moggio M, Papadimitriou A, Scarlato G, Comi GP", "evidence": [ { "database": "UniProtKB", "id": "P12235", "url": "https://www.uniprot.org/uniprot/P12235" } ], "reference": [ { "type": "PubMed", "id": "11756613", "url": "https://glygen.org/publication/PubMed/11756613" } ] }, { "title": "ARL2 and BART enter mitochondria and bind the adenine nucleotide transporter.", "journal": "Molecular biology of the cell", "date": "2002", "authors": "Sharer JD, Shern JF, Van Valkenburgh H, Wallace DC, Kahn RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-83936", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-83936" } ], "reference": [ { "type": "PubMed", "id": "11809823", "url": "https://glygen.org/publication/PubMed/11809823" } ] }, { "title": "A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions.", "journal": "Annals of neurology", "date": "2002", "authors": "Komaki H, Fukazawa T, Houzen H, Yoshida K, Nonaka I, Goto Y", "evidence": [ { "database": "UniProtKB", "id": "P12235", "url": "https://www.uniprot.org/uniprot/P12235" } ], "reference": [ { "type": "PubMed", "id": "12112115", "url": "https://glygen.org/publication/PubMed/12112115" } ] }, { "title": "Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).", "journal": "Neurology", "date": "2003", "authors": "Agostino A, Valletta L, Chinnery PF, Ferrari G, Carrara F, Taylor RW, Schaefer AM, Turnbull DM, Tiranti V, Zeviani M", "evidence": [ { "database": "UniProtKB", "id": "P12235", "url": "https://www.uniprot.org/uniprot/P12235" } ], "reference": [ { "type": "PubMed", "id": "12707443", "url": "https://glygen.org/publication/PubMed/12707443" } ] }, { "title": "Organization and function of the small Tim complexes acting along the import pathway of metabolite carriers into mammalian mitochondria.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Muhlenbein N, Hofmann S, Rothbauer U, Bauer MF", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "14726512", "url": "https://glygen.org/publication/PubMed/14726512" } ] }, { "title": "The calcium-binding aspartate/glutamate carriers, citrin and aralar1, are new substrates for the DDP1/TIMM8a-TIMM13 complex.", "journal": "Human molecular genetics", "date": "2004", "authors": "Roesch K, Hynds PJ, Varga R, Tranebjaerg L, Koehler CM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "15254020", "url": "https://glygen.org/publication/PubMed/15254020" } ] }, { "title": "Identification and characterization of a novel monoamine transporter in the human brain.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Engel K, Zhou M, Wang J", "evidence": [ { "database": "Reactome", "id": "R-HSA-83936", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-83936" } ], "reference": [ { "type": "PubMed", "id": "15448143", "url": "https://glygen.org/publication/PubMed/15448143" } ] }, { "title": "Dissection of the mitochondrial import and assembly pathway for human Tom40.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Humphries AD, Streimann IC, Stojanovski D, Johnston AJ, Yano M, Hoogenraad NJ, Ryan MT", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "15644312", "url": "https://glygen.org/publication/PubMed/15644312" } ] }, { "title": "Augmenter of liver regeneration: a flavin-dependent sulfhydryl oxidase with cytochrome c reductase activity.", "journal": "Biochemistry", "date": "2005", "authors": "Farrell SR, Thorpe C", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "15683237", "url": "https://glygen.org/publication/PubMed/15683237" } ] }, { "title": "Functional characterization of novel human and mouse equilibrative nucleoside transporters (hENT3 and mENT3) located in intracellular membranes.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Baldwin SA, Yao SY, Hyde RJ, Ng AM, Foppolo S, Barnes K, Ritzel MW, Cass CE, Young JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-83936", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-83936" } ], "reference": [ { "type": "PubMed", "id": "15701636", "url": "https://glygen.org/publication/PubMed/15701636" } ] }, { "title": "A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia.", "journal": "Neuromuscular disorders : NMD", "date": "2005", "authors": "Deschauer M, Hudson G, Muller T, Taylor RW, Chinnery PF, Zierz S", "evidence": [ { "database": "UniProtKB", "id": "P12235", "url": 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