{ "uniprot_canonical_ac": "P12236-1", "uniprot_ac": "P12236", "uniprot_id": "ADT3_HUMAN", "mass": { "chemical_mass": 32866.0, "monoisotopic_mass": 32866.0 }, "refseq": { "ac": "NP_001627", "name": "ADP/ATP translocase 3", "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 is implicated in the function of the permability transition pore complex (PTPC), which regulates the release of mitochondrial products that induce apoptosis. The human genome contains several non-transcribed pseudogenes of this gene. [provided by RefSeq, Jun 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001627" }, "gene_names": [ { "name": "SLC25A6", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P12236", "id": "P12236" }, { "name": "AAC3; ANT; ANT 2; ANT 3; ANT3; ANT3Y", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001627", "id": "NP_001627" }, { "name": "AAC3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P12236", "id": "P12236" }, { "name": "ANT3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P12236", "id": "P12236" }, { "name": "CDABP0051", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P12236", "id": "P12236" }, { "name": "SLC25A6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001627", "id": "NP_001627" } ], "protein_names": [ { "name": "ADP/ATP translocase 3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P12236" }, { "name": "ADP,ATP carrier protein 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12236" }, { "name": "ADP,ATP carrier protein, isoform T2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12236" }, { "name": "ADP/ATP translocase 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001627", "id": "NP_001627" }, { "name": "ADP/ATP translocator of liver; ADP,ATP carrier protein, liver; adenine nucleotide translocator 3; ADP,ATP carrier protein 3; solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6; epididymis secretory sperm binding protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001627", "id": "NP_001627" }, { "name": "ANT 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12236" }, { "name": "ANT 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12236" }, { "name": "Adenine nucleotide translocator 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12236" }, { "name": "Solute carrier family 25 member 6", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12236" } ], "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 (By similarity). 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:15033708). 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 SLC25A6/ANT3 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:15033708). It is however unclear if SLC25A6/ANT3 constitutes a pore-forming component of mPTP or regulates it (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P12236", "url": "https://www.uniprot.org/uniprot/P12236#function" }, { "database": "PubMed", "id": "15033708", "url": "https://glygen.org/publication/PubMed/15033708" }, { "database": "UniProtKB", "id": "G2QNH0", "url": "https://www.uniprot.org/uniprot/G2QNH0#function" }, { "database": "UniProtKB", "id": "P48962", "url": "https://www.uniprot.org/uniprot/P48962#function" } ] }, { "annotation": "Differential Expression of ADP/ATP Carriers as a Biomarker of Metabolic Remodeling and Survival in Kidney Cancers. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001627", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001627" }, { "database": "PubMed", "id": "33396658", "url": "https://glygen.org/publication/PubMed/33396658" } ] }, { "annotation": "Dosage of the pseudoautosomal gene SLC25A6 is implicated in QTc interval duration. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001627", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001627" }, { "database": "PubMed", "id": "37495650", "url": "https://glygen.org/publication/PubMed/37495650" } ] }, { "annotation": "Mortalin (HSPA9) facilitates BRAF-mutant tumor cell survival by suppressing ANT3-mediated mitochondrial membrane permeability. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001627", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001627" }, { "database": "PubMed", "id": "32156782", "url": "https://glygen.org/publication/PubMed/32156782" } ] }, { "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 is implicated in the function of the permability transition pore complex (PTPC), which regulates the release of mitochondrial products that induce apoptosis. The human genome contains several non-transcribed pseudogenes of this gene. [provided by RefSeq, Jun 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_001627", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001627" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1172842284", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1172842284" }, { "id": "rs1172842284", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1172842284" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 165, "end_pos": 165, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TKS->NKS).", "chr_id": "X", "chr_pos": "1389345", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T165", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs747847057", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747847057" }, { "id": "rs747847057", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747847057" }, { "id": "rs747847057", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747847057" }, { "id": "rs747847057", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747847057" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 90, "end_pos": 90, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFA->NFT).", "chr_id": "X", "chr_pos": "1389571", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A90", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "99.42", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169100", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169100" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "99.33", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169100", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169100" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "99.11", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169100", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169100" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "99.14", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169100", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169100" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "99.45", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169100", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169100" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "97.43", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169100", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169100" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "99.56", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169100", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169100" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "99.44", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169100", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169100" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "99.38", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169100", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169100" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "98.46", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169100", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169100" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "93.84", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169100", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169100" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "99.3", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169100", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169100" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "99.35", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000169100", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000169100" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P12236", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12236" } ], "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, 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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": "P12236", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12236" } ], "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": "" }, { 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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", 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"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": 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"MTEQAISFAKDFLAGGIAAAISKTAVAPIERVKLLLQVQHASKQIAADKQYKGIVDCIVRIPKEQGVLSFWRGNLANVIRYFPTQALNFAFKDKYKQIFLGGVDKHTQFWRYFAGNLASGGAAGATSLCFVYPLDFARTRLAADVGKSGTEREFRGLGDCLVKITKSDGIRGLYQGFSVSVQGIIIYRAAYFGVYDTAKGMLPDPKNTHIVVSWMIAQTVTAVAGVVSYPFDTVRRRMMMQSGRKGADIMYTGTVDCWRKIFRDEGGKAFFKGAWSNVLRGMGGAFVLVLYDELKKVI", "length": 298, "header": "sp|P12236-1|ADT3_HUMAN Isoform 1 of ADP/ATP translocase 3 OS=Homo sapiens OX=9606 GN=SLC25A6 PE=1 SV=4 CANONICAL=P12236-1" }, "locus": { "chromosome": "X", "start_pos": 1392009, "end_pos": 1386605, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000381401.11", "url": "https://www.ensembl.org/id/ENST00000381401.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000370808.5", "url": "https://www.ensembl.org/id/ENSP00000370808.5" } ] } } ], "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": 254, "start_aa": "Thr", "end_pos": 254, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr254", "evidence": [ { "id": "P12236", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12236" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "P12236", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P12236" } ] } ], "phosphorylation": [ { "start_pos": 107, "end_pos": 107, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P12236", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12236" }, { "database": "PubMed", "id": "32194820", "url": "https://glygen.org/publication/PubMed/32194820" } ], "site_lbl": "Thr107" }, { "start_pos": 148, "end_pos": 148, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P12236", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12236" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ], "site_lbl": "Ser148" }, { "start_pos": 191, "end_pos": 191, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "P12236", "url": "http://phospho.elm.eu.org/byAccession/P12236.html" }, { "database": "iPTMnet", "id": "P12236", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12236" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" } ], "site_lbl": "Tyr191" } ], "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": "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": "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": "Functional proteolytic complexes of the human mitochondrial ATP-dependent protease, hClpXP.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Kang SG, Ortega J, Singh SK, Wang N, Huang NN, Steven AC, Maurizi MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "11923310", "url": "https://glygen.org/publication/PubMed/11923310" } ] }, { "title": "Lon protease preferentially degrades oxidized mitochondrial aconitase by an ATP-stimulated mechanism.", "journal": "Nature cell biology", "date": "2002", "authors": "Bota DA, Davies KJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "12198491", "url": "https://glygen.org/publication/PubMed/12198491" } ] }, { "title": "Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia.", "journal": "The Journal of cell biology", "date": "2003", "authors": "Atorino L, Silvestri L, Koppen M, Cassina L, Ballabio A, Marconi R, Langer T, Casari G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "14623864", "url": "https://glygen.org/publication/PubMed/14623864" } ] }, { "title": "Proteomic characterization of the human centrosome by protein correlation profiling.", "journal": "Nature", "date": "2003", "authors": "Andersen Jens S, Wilkinson Christopher J, Mayor Thibault, Mortensen Peter, Nigg Erich A, Mann Matthias", "evidence": [ { "database": "UniProtKB", "id": "P12236", "url": "https://www.uniprot.org/uniprot/P12236" } ], "reference": [ { "type": "PubMed", "id": "14654843", "url": "https://glygen.org/publication/PubMed/14654843" } ] }, { "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": "Study of PTPC composition during apoptosis for identification of viral protein target.", "journal": "Annals of the New York Academy of Sciences", "date": "2003-12", "authors": "Verrier Florence, Mignotte Bernard, Jan Gwena\u00ebl, Brenner Catherine", "evidence": [ { "database": "UniProtKB", "id": "P12236", "url": "https://www.uniprot.org/uniprot/P12236" } ], "reference": [ { "type": "PubMed", "id": "15033708", "url": "https://glygen.org/publication/PubMed/15033708" } ] }, { "title": "PB1-F2, an influenza A virus-encoded proapoptotic mitochondrial protein, creates variably sized pores in planar lipid membranes.", "journal": "Journal of virology", "date": "2004", "authors": "Chanturiya AN, Basanez G, Schubert U, Henklein P, Yewdell JW, Zimmerberg J", "evidence": [ { "database": "Reactome", "id": "R-HSA-168277", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-168277" } ], "reference": [ { "type": "PubMed", "id": "15163724", "url": "https://glygen.org/publication/PubMed/15163724" } ] }, { "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": "Crystallography and mutagenesis point to an essential role for the N-terminus of human mitochondrial ClpP.", "journal": "Journal of structural biology", "date": "2004", "authors": "Kang SG, Maurizi MR, Thompson M, Mueser T, Ahvazi B", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "15522782", "url": "https://glygen.org/publication/PubMed/15522782" } ] }, { "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": "Cleavage site selection within a folded substrate by the ATP-dependent lon protease.", "journal": "The Journal of biological chemistry", "date": "2005-07-01", "authors": "Ondrovicov\u00e1 Gabriela, Liu Tong, Singh Kamalendra, Tian Bin, Li Hong, Gakh Oleksandr, Perecko Dusan, Janata Jir\u00ed, Granot Zvi, Orly Joseph, Kutejov\u00e1 Eva, Suzuki Carolyn K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "15870080", "url": "https://glygen.org/publication/PubMed/15870080" } ] }, { "title": "Human mitochondrial ClpP is a stable heptamer that assembles into a tetradecamer in the presence of ClpX.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Kang SG, Dimitrova MN, Ortega J, Ginsburg A, Maurizi MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "16115876", "url": "https://glygen.org/publication/PubMed/16115876" } ] }, { "title": "Mitochondrial membrane permeabilization by HIV-1 Vpr.", "journal": "Mitochondrion", "date": "2004", "authors": "Deniaud Aur\u00e9lien, Brenner Catherine, Kroemer Guido", "evidence": [ { "database": "UniProtKB", "id": "P12236", "url": "https://www.uniprot.org/uniprot/P12236" } ], "reference": [ { "type": "PubMed", "id": "16120388", "url": "https://glygen.org/publication/PubMed/16120388" } ] }, { "title": "Functional and mutational characterization of human MIA40 acting during import into the mitochondrial intermembrane space.", "journal": "Journal of molecular biology", "date": "2005", "authors": "Hofmann S, Rothbauer U, Muhlenbein N, Baiker K, Hell K, Bauer MF", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "16185709", "url": "https://glygen.org/publication/PubMed/16185709" } ] }, { "title": "Influenza virus PB1-F2 protein induces cell death through mitochondrial ANT3 and VDAC1.", "journal": "PLoS Pathog.", "date": "2005", "authors": "Zamarin Dmitriy, Garc\u00eda-Sastre Adolfo, Xiao Xiaoyao, Wang Rong, Palese Peter", "evidence": [ { "database": "UniProtKB", "id": "P12236", "url": "https://www.uniprot.org/uniprot/P12236" } ], "reference": [ { "type": "PubMed", "id": "16201016", "url": "https://glygen.org/publication/PubMed/16201016" } ] }, { "title": "Degradation of the amyloid beta-protein by the novel mitochondrial peptidasome, PreP.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Falkevall A, Alikhani N, Bhushan S, Pavlov PF, Busch K, Johnson KA, Eneqvist T, Tjernberg L, Ankarcrona M, Glaser E", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "16849325", "url": "https://glygen.org/publication/PubMed/16849325" } ] }, { "title": "Distribution and functional characterization of equilibrative nucleoside transporter-4, a novel cardiac adenosine transporter activated at acidic pH.", "journal": "Circulation research", "date": "2006", "authors": "Barnes K, Dobrzynski H, Foppolo S, Beal PR, Ismat F, Scullion ER, Sun L, Tellez J, Ritzel MW, Claycomb WC, Cass CE, Young JD, Billeter-Clark R, Boyett MR, Baldwin SA", "evidence": [ { "database": "Reactome", "id": "R-HSA-83936", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-83936" } ], "reference": [ { "type": "PubMed", "id": "16873718", "url": "https://glygen.org/publication/PubMed/16873718" } ] }, { "title": "Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia.", "journal": "Molecular and cellular biology", "date": "2007", "authors": "Koppen M, Metodiev MD, Casari G, Rugarli EI, Langer T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "17101804", "url": "https://glygen.org/publication/PubMed/17101804" } ] }, { "title": "GRIM-19 associates with the serine protease HtrA2 for promoting cell death.", "journal": "Oncogene", "date": "2007", "authors": "Ma X, Kalakonda S, Srinivasula SM, Reddy SP, Platanias LC, Kalvakolanu DV", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "17297443", "url": "https://glygen.org/publication/PubMed/17297443" } ] }, { "title": "Conserved roles of Sam50 and metaxins in VDAC biogenesis.", "journal": "EMBO reports", "date": "2007", "authors": "Kozjak-Pavlovic V, Ross K, Benlasfer N, Kimmig S, Karlas A, Rudel T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "17510655", "url": "https://glygen.org/publication/PubMed/17510655" } ] }, { "title": "Turnover of mitochondrial steroidogenic acute regulatory (StAR) protein by Lon protease: the unexpected effect of proteasome inhibitors.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2007-09", "authors": "Granot Zvi, Kobiler Oren, Melamed-Book Naomi, Eimerl Sarah, Bahat Assaf, Lu Bin, Braun Sergei, Maurizi Michael R, Suzuki Carolyn K, Oppenheim Amos B, Orly Joseph", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "17579211", "url": "https://glygen.org/publication/PubMed/17579211" } ] }, { "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": "P12236", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12236" } ], "reference": [ { "type": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" } ] }, { "title": "Multiple pathways for sorting mitochondrial precursor proteins.", "journal": "EMBO reports", "date": "2008", "authors": "Bolender N, Sickmann A, Wagner R, Meisinger C, Pfanner N", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "18174896", "url": 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