{ "uniprot_canonical_ac": "O95202-1", "uniprot_ac": "O95202", "uniprot_id": "LETM1_HUMAN", "mass": { "chemical_mass": 83354.0, "monoisotopic_mass": 83354.0 }, "refseq": { "ac": "NP_036450", "name": "mitochondrial proton/calcium exchanger protein precursor", "summary": "This gene encodes a protein that is localized to the inner mitochondrial membrane. The protein functions to maintain the mitochondrial tubular shapes and is required for normal mitochondrial morphology and cellular viability. Mutations in this gene cause Wolf-Hirschhorn syndrome, a complex malformation syndrome caused by the deletion of parts of the distal short arm of chromosome 4. Related pseudogenes have been identified on chromosomes 8, 15 and 19. [provided by RefSeq, Oct 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036450" }, "gene_names": [ { "name": "LETM1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95202", "id": "O95202" }, { "name": "CONDMIM; KHE; Mdm38; SLC55A1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036450", "id": "NP_036450" }, { "name": "LETM1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036450", "id": "NP_036450" } ], "protein_names": [ { "name": "Mitochondrial proton/calcium exchanger protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95202" }, { "name": "Electroneutral mitochondrial K(+)/H(+)exchanger", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95202" }, { "name": "KHE", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95202" }, { "name": "Leucine zipper-EF-hand-containing transmembrane protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95202" }, { "name": "Mdm38 homolog; LETM1 and EF-hand domain-containing protein 1, mitochondrial; leucine zipper-EF-hand containing transmembrane protein 1; mitochondrial proton/calcium exchanger protein; electroneutral mitochondrial K(+)/H(+)exchanger", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036450", "id": "NP_036450" }, { "name": "mitochondrial proton/calcium exchanger protein precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036450", "id": "NP_036450" } ], "function": [ { "annotation": "Circ_0061140 Contributes to Ovarian Cancer Progression by Targeting miR-761/LETM1 Signaling.", "evidence": [ { "database": "RefSeq", "id": "NP_036450", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036450" }, { "database": "PubMed", "id": "36056285", "url": "https://glygen.org/publication/PubMed/36056285" } ] }, { "annotation": "Here, we present cellular and biochemical analysis of Letm1", "evidence": [ { "database": "RefSeq", "id": "NP_036450", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036450" }, { "database": "PubMed", "id": "17606466", "url": "https://glygen.org/publication/PubMed/17606466" } ] }, { "annotation": "LETM1 (leucine zipper-EF-hand-containing transmembrane protein 1) silence reduces the proliferation, invasion, migration and angiogenesis in esophageal squamous cell carcinoma via KIF14 (kinesin family member 14).", "evidence": [ { "database": "RefSeq", "id": "NP_036450", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036450" }, { "database": "PubMed", "id": "34605738", "url": "https://glygen.org/publication/PubMed/34605738" } ] }, { "annotation": "LETM1 is evolutionarily conserved throughout the eukaryotic kingdom and located in the mitochondria.", "evidence": [ { "database": "RefSeq", "id": "NP_036450", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036450" }, { "database": "PubMed", "id": "14706454", "url": "https://glygen.org/publication/PubMed/14706454" } ] }, { "annotation": "Plays an important role in maintenance of mitochondrial morphology and in mediating either calcium or potassium/proton antiport (PubMed:18628306, PubMed:19797662, PubMed:24898248, PubMed:24344246, PubMed:29123128, PubMed:32139798, PubMed:36321428, PubMed:36055214). Mediates proton-dependent calcium efflux from mitochondrion (PubMed:19797662, PubMed:24344246, PubMed:29123128). Functions also as an electroneutral mitochondrial proton/potassium exchanger (PubMed:24898248, PubMed:36055214, PubMed:36321428). Crucial for the maintenance of mitochondrial tubular networks and for the assembly of the supercomplexes of the respiratory chain (PubMed:18628306, PubMed:36055214). Required for the maintenance of the tubular shape and cristae organization (PubMed:18628306, PubMed:32139798).", "evidence": [ { "database": "UniProtKB", "id": "O95202", "url": "https://www.uniprot.org/uniprot/O95202#function" }, { "database": "PubMed", "id": "18628306", "url": "https://glygen.org/publication/PubMed/18628306" }, { "database": "PubMed", "id": "19797662", "url": "https://glygen.org/publication/PubMed/19797662" }, { "database": "PubMed", "id": "32139798", "url": "https://glygen.org/publication/PubMed/32139798" }, { "database": "PubMed", "id": "24344246", "url": "https://glygen.org/publication/PubMed/24344246" }, { "database": "PubMed", "id": "29123128", "url": "https://glygen.org/publication/PubMed/29123128" }, { "database": "PubMed", "id": "24898248", "url": "https://glygen.org/publication/PubMed/24898248" }, { "database": "PubMed", "id": "36055214", "url": "https://glygen.org/publication/PubMed/36055214" }, { "database": "PubMed", "id": "36321428", "url": "https://glygen.org/publication/PubMed/36321428" } ] }, { "annotation": "The leucine zipper EF-hand containing transmembrane protein-1 EF-hand is a tripartite calcium, temperature, and pH sensor.", "evidence": [ { "database": "RefSeq", "id": "NP_036450", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036450" }, { "database": "PubMed", "id": "33576522", "url": "https://glygen.org/publication/PubMed/33576522" } ] }, { "annotation": "This gene encodes a protein that is localized to the inner mitochondrial membrane. The protein functions to maintain the mitochondrial tubular shapes and is required for normal mitochondrial morphology and cellular viability. Mutations in this gene cause Wolf-Hirschhorn syndrome, a complex malformation syndrome caused by the deletion of parts of the distal short arm of chromosome 4. Related pseudogenes have been identified on chromosomes 8, 15 and 19. [provided by RefSeq, Oct 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_036450", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036450" } ] } ], "disease": [ { "disease_id": "MONDO:0859304", "recommended_name": { "id": "MONDO:0859304", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859304", "name": "neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction", "description": "" }, "synonyms": [ { "id": "MIM:620089", "resource": "MIM", "url": "https://www.omim.org/entry/620089", "name": "Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction", "description": "Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction" } ], "evidence": [ { "id": "620089", "database": "MIM", "url": "https://www.omim.org/entry/620089" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 192, "end_pos": 192, "sequence_org": "T", "sequence_mut": "A", "comment": "Loss of phosphorylation by PINK1.", "evidence": [ { "database": "UniProtKB", "id": "O95202", "url": "https://www.uniprot.org/uniprot/O95202" }, { "database": "PubMed", "id": "29123128", "url": "https://glygen.org/publication/PubMed/29123128" } ] }, { "start_pos": 192, "end_pos": 192, "sequence_org": "T", "sequence_mut": "E", "comment": "Phosphomimetic mutant. Increased rate of calcium export from mitochondria.", "evidence": [ { "database": "UniProtKB", "id": "O95202", "url": "https://www.uniprot.org/uniprot/O95202" }, { "database": "PubMed", "id": "29123128", "url": "https://glygen.org/publication/PubMed/29123128" } ] }, { "start_pos": 359, "end_pos": 359, "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of ability to complement morphologic defects of mitochondria in letm1-deficient yeast mutant. Slightly supports growth of letm1-deficient yeast mutant on minimal essential medium.", "evidence": [ { "database": "UniProtKB", "id": "O95202", "url": "https://www.uniprot.org/uniprot/O95202" }, { "database": "PubMed", "id": "32139798", "url": "https://glygen.org/publication/PubMed/32139798" } ] }, { "start_pos": 382, "end_pos": 382, "sequence_org": "R", "sequence_mut": "A", "comment": "Loss of ability to complement growth defects and morphologic defects of mitochondria in letm1-deficient yeast mutant; when associated with A-383 and A-384.", "evidence": [ { "database": "UniProtKB", "id": "O95202", "url": "https://www.uniprot.org/uniprot/O95202" }, { "database": "PubMed", "id": "32139798", "url": "https://glygen.org/publication/PubMed/32139798" } ] }, { "start_pos": 383, "end_pos": 383, "sequence_org": "G", "sequence_mut": "A", "comment": "Loss of ability to complement growth defects and morphologic defects of mitochondria in letm1-deficient yeast mutant; when associated with A-382 and A-384.", "evidence": [ { "database": "UniProtKB", "id": "O95202", "url": "https://www.uniprot.org/uniprot/O95202" }, { "database": "PubMed", "id": "32139798", "url": "https://glygen.org/publication/PubMed/32139798" } ] }, { "start_pos": 384, "end_pos": 384, "sequence_org": "M", "sequence_mut": "A", "comment": "Loss of ability to complement growth defects and morphologic defects of mitochondria in letm1-deficient yeast mutant; when associated with A-382 and A-383.", "evidence": [ { "database": "UniProtKB", "id": "O95202", "url": "https://www.uniprot.org/uniprot/O95202" }, { "database": "PubMed", "id": "32139798", "url": "https://glygen.org/publication/PubMed/32139798" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "80.69", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000168924", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168924" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "78.08", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000168924", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168924" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "83.08", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168924", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168924" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000168924", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168924" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "85.96", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168924", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168924" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "86.8", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168924", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168924" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "77.01", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000168924", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168924" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "77.3", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000168924", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168924" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "86.23", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168924", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168924" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "69.92", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000168924", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168924" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "85.02", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168924", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168924" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "84.8", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168924", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168924" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "84.14", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168924", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168924" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O95202", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95202" } ], "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", 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"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": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O95202", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95202" } ], "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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"url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95202" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O95202", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95202" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O95202", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95202" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O95202", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95202" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O95202", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95202" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O95202", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95202" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O95202", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95202" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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"Protein" ] } ], "sequence": { "sequence": "MASILLRSCRGRAPARLPPPPRYTVPRGSPGDPAHLSCASTLGLRNCLNVPFGCCTPIHPVYTSSRGDHLGCWALRPECLRIVSRAPWTSTSVGFVAVGPQCLPVRGWHSSRPVRDDSVVEKSLKSLKDKNKKLEEGGPVYSPPAEVVVKKSLGQRVLDELKHYYHGFRLLWIDTKIAARMLWRILNGHSLTRRERRQFLRICADLFRLVPFLVFVVVPFMEFLLPVAVKLFPNMLPSTFETQSLKEERLKKELRVKLELAKFLQDTIEEMALKNKAAKGSATKDFSVFFQKIRETGERPSNEEIMRFSKLFEDELTLDNLTRPQLVALCKLLELQSIGTNNFLRFQLTMRLRSIKADDKLIAEEGVDSLNVKELQAACRARGMRALGVTEDRLRGQLKQWLDLHLHQEIPTSLLILSRAMYLPDTLSPADQLKSTLQTLPEIVAKEAQVKVAEVEGEQVDNKAKLEATLQEEAAIQQEHREKELQKRSEVAKDFEPERVVAAPQRPGTEPQPEMPDTVLQSETLKDTAPVLEGLKEEEITKEEIDILSDACSKLQEQKKSLTKEKEELELLKEDVQDYSEDLQEIKKELSKTGEEKYVEESKASKRLTKRVQQMIGQIDGLISQLEMDQQAGKLAPANGMPTGENVISVAELINAMKQVKHIPESKLTSLAAALDENKDGKVNIDDLVKVIELVDKEDVHISTSQVAEIVATLEKEEKVEEKEKAKEKAEKEVAEVKS", "length": 739, "header": "sp|O95202-1|LETM1_HUMAN Isoform 1 of Mitochondrial proton/calcium exchanger protein OS=Homo sapiens OX=9606 GN=LETM1 PE=1 SV=1 CANONICAL=O95202-1" }, "isoforms": [ { "isoform_ac": "O95202-1", "url": "", "sequence": { "sequence": "MASILLRSCRGRAPARLPPPPRYTVPRGSPGDPAHLSCASTLGLRNCLNVPFGCCTPIHPVYTSSRGDHLGCWALRPECLRIVSRAPWTSTSVGFVAVGPQCLPVRGWHSSRPVRDDSVVEKSLKSLKDKNKKLEEGGPVYSPPAEVVVKKSLGQRVLDELKHYYHGFRLLWIDTKIAARMLWRILNGHSLTRRERRQFLRICADLFRLVPFLVFVVVPFMEFLLPVAVKLFPNMLPSTFETQSLKEERLKKELRVKLELAKFLQDTIEEMALKNKAAKGSATKDFSVFFQKIRETGERPSNEEIMRFSKLFEDELTLDNLTRPQLVALCKLLELQSIGTNNFLRFQLTMRLRSIKADDKLIAEEGVDSLNVKELQAACRARGMRALGVTEDRLRGQLKQWLDLHLHQEIPTSLLILSRAMYLPDTLSPADQLKSTLQTLPEIVAKEAQVKVAEVEGEQVDNKAKLEATLQEEAAIQQEHREKELQKRSEVAKDFEPERVVAAPQRPGTEPQPEMPDTVLQSETLKDTAPVLEGLKEEEITKEEIDILSDACSKLQEQKKSLTKEKEELELLKEDVQDYSEDLQEIKKELSKTGEEKYVEESKASKRLTKRVQQMIGQIDGLISQLEMDQQAGKLAPANGMPTGENVISVAELINAMKQVKHIPESKLTSLAAALDENKDGKVNIDDLVKVIELVDKEDVHISTSQVAEIVATLEKEEKVEEKEKAKEKAEKEVAEVKS", "length": 739, "header": "sp|O95202-1|LETM1_HUMAN Isoform 1 of Mitochondrial proton/calcium exchanger protein OS=Homo sapiens OX=9606 GN=LETM1 PE=1 SV=1 CANONICAL=O95202-1" }, "locus": { "chromosome": "4", "start_pos": 1855950, "end_pos": 1814427, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000302787.3", "url": "https://www.ensembl.org/id/ENST00000302787.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000305653.2", "url": "https://www.ensembl.org/id/ENSP00000305653.2" } ] } }, { "isoform_ac": "O95202-2", "url": "", "sequence": { "sequence": "MRHTWPFRNVPFGCCTPIHPVYTSSRGDHLGCWALRPECLRIVSRAPWTSTSVGFVAVGPQCLPVRGWHSSRPVRDDSVVEKSLKSLKDKNKKLEEGGPVYSPPAEVVVKKSLGQRVLDELKHYYHGFRLLWIDTKIAARMLWRILNGHSLTRRERRQFLRICADLFRLVPFLVFVVVPFMEFLLPVAVKLFPNMLPSTFETQSLKEERLKKELRVKLELAKFLQDTIEEMALKNKAAKGSATKDFSVFFQQVL", "length": 254, "header": "sp|O95202-2|LETM1_HUMAN Isoform 2 of Mitochondrial proton/calcium exchanger protein OS=Homo sapiens OX=9606 GN=LETM1 PE=1 SV=1 CANONICAL=O95202-1" }, "locus": {} }, { "isoform_ac": "O95202-3", "url": "", "sequence": { "sequence": "MASILLRSCRGRAPARLPPPPRYTVPRGSPGDPAHLSCASTLGLRNCLNVPFGCCTPIHPVYTSSRGDHLGCWALRPECLRIVSRAPWTSTSVGFVAVGPQCLPVRGWHSSRPVRDDSVVEKSLKSLKDKNKKLEEGGPVYSPPAEVVVKKSLGQRVLDELKHYYHGFRLLWIDTKIAARMLWRILNGHSLTRRERRQFLRICADLFRLVPFLVFVVVPFMEFLLPVAVKLFPNMLPSTFETQSLKEERLKKELRVKLELAKFLQDTIEEMALKNKAAKGSATKDFSVFFQQVL", "length": 294, "header": "sp|O95202-3|LETM1_HUMAN Isoform 3 of Mitochondrial proton/calcium exchanger protein OS=Homo sapiens OX=9606 GN=LETM1 PE=1 SV=1 CANONICAL=O95202-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O95202", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95202" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [ { "start_pos": 142, "end_pos": 142, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95202", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95202" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser142" }, { "start_pos": 175, "end_pos": 175, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95202", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95202" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr175" }, { "start_pos": 192, "end_pos": 192, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine; by PINK1", "evidence": [ { "database": "UniProtKB", "id": "O95202", "url": "https://www.uniprot.org/uniprot/O95202" }, { "database": "iPTMnet", "id": "O95202", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95202" }, { "database": "PubMed", "id": "29123128", "url": "https://glygen.org/publication/PubMed/29123128" } ], "site_lbl": "Thr192" }, { "start_pos": 239, "end_pos": 239, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95202", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95202" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr239" }, { "start_pos": 426, "end_pos": 426, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95202", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95202" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr426" }, { "start_pos": 428, "end_pos": 428, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95202", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95202" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser428" }, { "start_pos": 435, "end_pos": 435, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95202", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95202" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser435" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "LETM1, a novel gene encoding a putative EF-hand Ca(2+)-binding protein, flanks the Wolf-Hirschhorn syndrome (WHS) critical region and is deleted in most WHS patients.", "journal": "Genomics", "date": "1999", "authors": "Endele S, Fuhry M, Pak S J, Zabel B U, Winterpacht A", "evidence": [ { "database": "UniProtKB", "id": "O95202", "url": "https://www.uniprot.org/uniprot/O95202" } ], "reference": [ { "type": "PubMed", "id": "10486213", "url": "https://glygen.org/publication/PubMed/10486213" } ] }, { "title": "Biological and regulatory properties of Vav-3, a new member of the Vav family of oncoproteins.", "journal": "Molecular and cellular biology", "date": "1999", "authors": "Movilla N, Bustelo XR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013408" } ], "reference": [ { "type": "PubMed", "id": "10523675", "url": "https://glygen.org/publication/PubMed/10523675" } ] }, { "title": "TrioGEF1 controls Rac- and Cdc42-dependent cell structures through the direct activation of rhoG.", "journal": "Journal of cell science", "date": "2000", "authors": "Blangy A, Vignal E, Schmidt S, Debant A, Gauthier-Rouviere C, Fort P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013408" } ], "reference": [ { "type": "PubMed", "id": "10652265", "url": "https://glygen.org/publication/PubMed/10652265" } ] }, { "title": "Kinectin is a key effector of RhoG microtubule-dependent cellular activity.", "journal": "Molecular and cellular biology", "date": "2001", "authors": "Vignal E, Blangy A, Martin M, Gauthier-Rouviere C, Fort P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013408" } ], "reference": [ { "type": "PubMed", "id": "11689693", "url": "https://glygen.org/publication/PubMed/11689693" } ] }, { "title": "The Human Rho-GEF trio and its target GTPase RhoG are involved in the NGF pathway, leading to neurite outgrowth.", "journal": "Current biology : CB", "date": "2002", "authors": "Estrach S, Schmidt S, Diriong S, Penna A, Blangy A, Fort P, Debant A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013408" } ], "reference": [ { "type": "PubMed", "id": "11864571", "url": "https://glygen.org/publication/PubMed/11864571" } ] }, { "title": "RhoGDI-3 regulates RhoG and targets this protein to the Golgi complex through its unique N-terminal domain.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2002", "authors": "Brunet N, Morin A, Olofsson B", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013408" } ], "reference": [ { "type": "PubMed", "id": "11967128", "url": "https://glygen.org/publication/PubMed/11967128" } ] }, { "title": "Kalirin Dbl-homology guanine nucleotide exchange factor 1 domain initiates new axon outgrowths via RhoG-mediated mechanisms.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2002", "authors": "May V, Schiller MR, Eipper BA, Mains RE", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013408" } ], "reference": [ { "type": "PubMed", "id": "12177196", "url": "https://glygen.org/publication/PubMed/12177196" } ] }, { "title": "RhoG signals in parallel with Rac1 and Cdc42.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Wennerberg K, Ellerbroek SM, Liu RY, Karnoub AE, Burridge K, Der CJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013408" } ], "reference": [ { "type": "PubMed", "id": "12376551", "url": "https://glygen.org/publication/PubMed/12376551" } ] }, { "title": "Recombinant expression of the voltage-dependent anion channel enhances the transfer of Ca2+ microdomains to mitochondria.", "journal": "The Journal of cell biology", "date": "2002", "authors": "Rapizzi E, Pinton P, Szabadkai G, Wieckowski MR, Vandecasteele G, Baird G, Tuft RA, Fogarty KE, Rizzuto R", "evidence": [ { "database": "Reactome", "id": "R-HSA-8949215", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8949215" } ], "reference": [ { "type": "PubMed", "id": "12438411", "url": "https://glygen.org/publication/PubMed/12438411" } ] }, { "title": "LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein.", "journal": "Genomics", "date": "2004", "authors": "Schlickum S, Moghekar A, Simpson JC, Steglich C, O'Brien RJ, Winterpacht A, Endele SU", "evidence": [ { "database": "UniProtKB", "id": "O95202", "url": "https://www.uniprot.org/uniprot/O95202" }, { "database": "RefSeq", "id": "NP_036450", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036450" } ], "reference": [ { "type": "PubMed", "id": "14706454", "url": "https://glygen.org/publication/PubMed/14706454" } ] }, { "title": "SGEF, a RhoG guanine nucleotide exchange factor that stimulates macropinocytosis.", "journal": "Molecular biology of the cell", "date": "2004", "authors": "Ellerbroek SM, Wennerberg K, Arthur WT, Dunty JM, Bowman DR, DeMali KA, Der C, Burridge K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013408" } ], "reference": [ { "type": "PubMed", "id": "15133129", "url": "https://glygen.org/publication/PubMed/15133129" } ] }, { "title": "The LETM1/YOL027 gene family encodes a factor of the mitochondrial K+ homeostasis with a potential role in the Wolf-Hirschhorn syndrome.", "journal": "J. Biol. Chem.", "date": "2004", "authors": "Nowikovsky K, Froschauer EM, Zsurka G, Samaj J, Reipert S, Kolisek M, Wiesenberger G, Schweyen RJ", "evidence": [ { "database": "UniProtKB", "id": "O95202", "url": "https://www.uniprot.org/uniprot/O95202" } ], "reference": [ { "type": "PubMed", "id": "15138253", "url": "https://glygen.org/publication/PubMed/15138253" } ] }, { "title": "Electroneutral K+/H+ exchange in mitochondrial membrane vesicles involves Yol027/Letm1 proteins.", "journal": "Biochimica et biophysica acta", "date": "2005", "authors": "Froschauer E, Nowikovsky K, Schweyen RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-8949215", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8949215" } ], "reference": [ { "type": "PubMed", "id": "15904662", "url": "https://glygen.org/publication/PubMed/15904662" } ] }, { "title": "Activation of Rac1 by RhoG regulates cell migration.", "journal": "Journal of cell science", "date": "2006", "authors": "Katoh H, Hiramoto K, Negishi M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013408" } ], "reference": [ { "type": "PubMed", "id": "16339170", "url": "https://glygen.org/publication/PubMed/16339170" } ] }, { "title": "Dock4 is regulated by RhoG and promotes Rac-dependent cell migration.", "journal": "Experimental cell research", "date": "2006", "authors": "Hiramoto K, Negishi M, Katoh H", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013408" } ], "reference": [ { "type": "PubMed", "id": "17027967", "url": "https://glygen.org/publication/PubMed/17027967" } ] }, { "title": "Chaperone-mediated coupling of endoplasmic reticulum and mitochondrial Ca2+ channels.", "journal": "The Journal of cell biology", "date": "2006", "authors": "Szabadkai G, Bianchi K, Varnai P, De Stefani D, Wieckowski MR, Cavagna D, Nagy AI, Balla T, Rizzuto R", "evidence": [ { "database": "Reactome", "id": "R-HSA-8949215", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8949215" } ], "reference": [ { "type": "PubMed", "id": "17178908", "url": "https://glygen.org/publication/PubMed/17178908" } ] }, { "title": "Inverse correlation between expression of the Wolfs Hirschhorn candidate gene Letm1 and mitochondrial volume in C. elegans and in mammalian cells.", "journal": "Human molecular genetics", "date": "2007", "authors": "Hasegawa A, van der Bliek AM", "evidence": [ { "database": "RefSeq", "id": "NP_036450", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036450" } ], "reference": [ { "type": "PubMed", "id": "17606466", "url": "https://glygen.org/publication/PubMed/17606466" } ] }, { "title": "Characterization of the mitochondrial protein LETM1, which maintains the mitochondrial tubular shapes and interacts with the AAA-ATPase BCS1L.", "journal": "Journal of cell science", "date": "2008", "authors": "Tamai S, Iida H, Yokota S, Sayano T, Kiguchiya S, Ishihara N, Hayashi J, Mihara K, Oka T", "evidence": [ { "database": "UniProtKB", "id": "O95202", "url": "https://www.uniprot.org/uniprot/O95202" }, { "database": "Reactome", "id": "R-HSA-8949215", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8949215" } ], "reference": [ { "type": "PubMed", "id": "18628306", "url": "https://glygen.org/publication/PubMed/18628306" } ] }, { "title": "Suppression of RhoG activity is mediated by a syndecan 4-synectin-RhoGDI1 complex and is reversed by PKCalpha in a Rac1 activation pathway.", "journal": "The Journal of cell biology", "date": "2009", "authors": "Elfenbein A, Rhodes JM, Meller J, Schwartz MA, Matsuda M, Simons M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013408" } ], "reference": [ { "type": "PubMed", "id": "19581409", "url": "https://glygen.org/publication/PubMed/19581409" } ] }, { "title": "Lysine acetylation targets protein complexes and co-regulates major cellular functions.", "journal": "Science (New York, N.Y.)", "date": "2009", "authors": "Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O95202", "url": "https://www.uniprot.org/uniprot/O95202" } ], "reference": [ { "type": "PubMed", "id": "19608861", "url": "https://glygen.org/publication/PubMed/19608861" } ] }, { "title": "Regulation of immature dendritic cell migration by RhoA guanine nucleotide exchange factor Arhgef5.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Wang Z, Kumamoto Y, Wang P, Gan X, Lehmann D, Smrcka AV, Cohn L, Iwasaki A, Li L, Wu D", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013408" } ], "reference": [ { "type": "PubMed", "id": "19713215", "url": "https://glygen.org/publication/PubMed/19713215" } ] }, { "title": "Genome-wide RNAi screen identifies Letm1 as a mitochondrial Ca2+/H+ antiporter.", "journal": "Science (New York, N.Y.)", "date": "2009", "authors": "Jiang D, Zhao L, Clapham DE", "evidence": [ { "database": "UniProtKB", "id": "O95202", "url": "https://www.uniprot.org/uniprot/O95202" }, { "database": "Reactome", "id": "R-HSA-8949215", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8949215" } ], "reference": [ { "type": "PubMed", "id": "19797662", "url": "https://glygen.org/publication/PubMed/19797662" } ] }, { "title": "NCLX is an essential component of mitochondrial Na+/Ca2+ exchange.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2010", "authors": "Palty R, Silverman WF, Hershfinkel M, Caporale T, Sensi SL, Parnis J, Nolte C, Fishman D, Shoshan-Barmatz V, Herrmann S, Khananshvili D, Sekler I", "evidence": [ { "database": "Reactome", "id": "R-HSA-8949215", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8949215" } ], "reference": [ { "type": "PubMed", "id": "20018762", "url": 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Lamperti Costanza, Reipert Siegfried, Risom Lotte, Laugwitz Lucia, Di Nottia Michela, McFarland Robert, Vilarinho Laura, Hanna Michael, Prokisch Holger, Mayr Johannes A, Bertini Enrico Silvio, Ghezzi Daniele, \u00d8stergaard Elsebet, Wortmann Saskia B, Carrozzo Rosalba, Haack Tobias B, Taylor Robert W, Spinazzola Antonella, Nowikovsky Karin, Houlden Henry", "evidence": [ { "database": "UniProtKB", "id": "O95202", "url": "https://www.uniprot.org/uniprot/O95202" } ], "reference": [ { "type": "PubMed", "id": "36055214", "url": "https://glygen.org/publication/PubMed/36055214" } ] }, { "title": "Circ_0061140 Contributes to Ovarian Cancer Progression by Targeting miR-761/LETM1 Signaling.", "journal": "Biochemical genetics", "date": "2022-09-02", "authors": "Ma Lieting, Liu Wenyan, Li Miaoling", "evidence": [ { "database": "RefSeq", "id": "NP_036450", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036450" } ], "reference": [ { "type": "PubMed", "id": "36056285", "url": "https://glygen.org/publication/PubMed/36056285" } ] }, { "title": "TMBIM5 is the Ca2+ /H+ antiporter of mammalian mitochondria.", "journal": "EMBO reports", "date": "2022-12-06", "authors": "Austin Shane, Mekis Ronald, Mohammed Sami E M, Scalise Mariafrancesca, Wang Wen-An, Galluccio Michele, Pfeiffer Christina, Borovec Tamara, Parapatics Katja, Vitko Dijana, Dinhopl Nora, Demaurex Nicolas, Bennett Keiryn L, Indiveri Cesare, Nowikovsky Karin", "evidence": [ { "database": "UniProtKB", "id": "O95202", "url": "https://www.uniprot.org/uniprot/O95202" } ], "reference": [ { "type": "PubMed", "id": "36321428", "url": "https://glygen.org/publication/PubMed/36321428" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "O95202", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95202" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "The role of calcium in the regulation of mitochondrial metabolism.", "journal": "Biochemical Society transactions", "date": "1980", "authors": "Denton RM, McCormack JG", "evidence": [ { "database": "Reactome", "id": "R-HSA-8949215", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8949215" } ], "reference": [ { "type": "PubMed", "id": "7399049", "url": "https://glygen.org/publication/PubMed/7399049" } ] }, { "title": "Guanine nucleotide exchange catalyzed by dbl oncogene product.", "journal": "Methods in enzymology", "date": "1995", "authors": "Zheng Y, Hart MJ, Cerione RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013408" } ], "reference": [ { 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Identification of a non-cytosolic GDI protein interacting with the small GTP-binding proteins RhoB and RhoG.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Zalcman G, Closson V, Camonis J, Honore N, Rousseau-Merck MF, Tavitian A, Olofsson B", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013408" } ], "reference": [ { "type": "PubMed", "id": "8939998", "url": "https://glygen.org/publication/PubMed/8939998" } ] }, { "title": "Phosphorylation-dependent and constitutive activation of Rho proteins by wild-type and oncogenic Vav-2.", "journal": "The EMBO journal", "date": "1998", "authors": "Schuebel KE, Movilla N, Rosa JL, Bustelo XR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013408" } ], "reference": [ { "type": "PubMed", "id": "9822605", "url": "https://glygen.org/publication/PubMed/9822605" } ] } ], "pathway": [ { "id": "hsa:3954", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3954", "resource": "KEGG Pathway" }, { "id": "R-HSA-8949215", "name": "Mitochondrial calcium ion transport", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8949215", "resource": "Reactome", "description": "Mitochondrial calcium ion transport" }, { "id": "R-HSA-9013408", "name": "RHOG GTPase cycle", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013408", "resource": "Reactome", "description": "RHOG GTPase cycle" } ], "orthologs": [ { "uniprot_canonical_ac": "Q5XIN6-1", "protein_name": "Mitochondrial proton/calcium exchanger protein", "gene_name": "Letm1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MASILLRSCRGRGPARLASPRAASPRGSLRDRACLSCTRTVGLTSHESVLSRCCTPANPVYLYFKSEPLSCWTQRPECQGTVARAAWTPASARLVVTGPQYLPVRGWHSSSPLGEDSMIEKSLKSLKDKNKKLEEGGPVYSPPAQVVVKKSLGQKILDELKHYYHGFRLLWIDTKIAARMLWRILNGHTLTRRERRQFLRICADLFRLVPFLVFVVVPFMEFLLPVVVKLFPNMLPSTFETQSIKEERLKKELRVKLELAKFLQDTIEEMALKNKAAKGNATKDFSAFFQKIRETGERPSNEEIMRFSKLFEDELTLDNLTRPQLVALCKLLELQSIGTNNFLRFQLTMRLRSIKADDKLISEEGVDSLTVKELQAACRARGMRALGVTEDRLKGQLKQWLDLHLYHEIPTSLLILSRAMYLPDTLSPADQLKSTLQTLPEIVAKEAQVKAAEVEGEQVDNKAKLEATLQEEAAIQQEHLEELKRAAETAKDIQPEVAEATVPGRPGAELQPKMVDVIPPSEILKDTAPVLEGLKGEEITKEEIDILSDACSKLKEQKKSLTKEKEELELLKEDVQDYSEDLQEIKKELSKTGDEKYIEESTASKRLSKRVQQMIGQIDGLITQLETTQQNGKLDPAAASSPTGESVISVDELISAMKQIKHIPEHKLISLTSALDENKDGNINIDDLVKVIDLVNKEDVQISTTQVAEIVATLEKEEKVEEKEKAKEKAEKEAAEVKN", "length": 739 }, "evidence": [ { "id": "45929940", "url": "http://www.informatics.jax.org/homology/45929940", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9Z2I0-1", "protein_name": "Mitochondrial proton/calcium exchanger protein", "gene_name": "Letm1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MASILLRSCRGRGPARLAPPRAASPRGSLRDRACLSCTRTLGLTSRESVLSRCCTPAHPVYLCFKGEPLSCWTQRPECQGTAARTTWTPASARLVVTGPQYLPVRGWHSSSPLGEDSVIEKSLKSLKDKNKKLEEGGPVYSPPAQVVVRKSLGQKVLDELRHYYHGFRLLWIDTKIAARMLWRILNGHTLTRRERRQFLRICADLFRLVPFLVFVVVPFMEFLLPVVVKLFPNMLPSTFETQSIKEERLKKELRVKLELAKFLQDTIEEMALKNKAAKGNATKDFSAFFQKIRETGERPSNEEIMRFSKLFEDELTLDNLTRPQLVALCKLLELQSIGTNNFLRFQLTMRLRSIKADDKLISEEGVDSLTVKELQAACRARGMRALGVTEDRLKGQLKQWLDLHLHHEIPTSLLILSRAMYLPDTLSPADQLKSTLQTLPEIVAKEAQVKVAEVEGEKVDNKAKLEATLQEEAAIQQEHLEELKRASEAVKDIQPEVAEATLPGRPGPEPQPPVDDVILPSEVLTDTAPVLEGLKGEEITKEEIDILSDACSKLQEQKKSLTKEKEELELLKEDVQDYSEDLQEIKKELSKTGEEKYIEESAASKRLSKRVQQMIGQIDGLITQLETTQQDGKLGPSQSTPTGESVISITELISAMKQIKHIPEHKLISLTSALDDNKDGNINIDDLVKVIDLVNKEDVQISTTQVAEIVATLEKEEKIEEKEKAKEKAEKEAAEVKN", "length": 738 }, "evidence": [ { "id": "45929940", "url": "http://www.informatics.jax.org/homology/45929940", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 10, "go_terms": [ { "name": "negative regulation of mitochondrial calcium ion concentration", "id": "GO:0051562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051562", "evidence": [ { "database": "UniProtKB", "id": "O95202", "url": "https://www.uniprot.org/uniprot/O95202" } ], "pmid": "" }, { "name": "protein homooligomerization", "id": "GO:0051260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051260", "evidence": [ { "database": "UniProtKB", "id": "O95202", "url": "https://www.uniprot.org/uniprot/O95202" } ], "pmid": "" }, { "name": "mitochondrial calcium ion transmembrane transport", "id": "GO:0006851", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006851", "evidence": [ { "database": "UniProtKB", "id": "O95202", "url": "https://www.uniprot.org/uniprot/O95202" } ], "pmid": "" }, { "name": "cristae formation", "id": "GO:0042407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042407", "evidence": [ { "database": "UniProtKB", "id": "O95202", "url": "https://www.uniprot.org/uniprot/O95202" } ], "pmid": "" }, { "name": "mitochondrial calcium ion homeostasis", "id": "GO:0051560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051560", "evidence": [ { "database": "UniProtKB", "id": "O95202", "url": "https://www.uniprot.org/uniprot/O95202" } ], "pmid": "" }, { "name": "protein hexamerization", "id": "GO:0034214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034214", "evidence": [ { "database": "UniProtKB", "id": "O95202", "url": "https://www.uniprot.org/uniprot/O95202" } ], "pmid": "" }, { "name": "calcium export from the mitochondrion", "id": "GO:0099093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099093", "evidence": [ { "database": "UniProtKB", "id": "O95202", "url": "https://www.uniprot.org/uniprot/O95202" } ], "pmid": "" }, { "name": "inner mitochondrial membrane organization", "id": "GO:0007007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007007", "evidence": [ { "database": "UniProtKB", "id": "O95202", "url": "https://www.uniprot.org/uniprot/O95202" } ], "pmid": "" }, { "name": "mitochondrial potassium ion transmembrane transport", "id": "GO:0140141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140141", "evidence": [ { "database": "UniProtKB", "id": "O95202", "url": "https://www.uniprot.org/uniprot/O95202" } ], "pmid": "" }, { "name": "regulation of cellular hyperosmotic salinity response", "id": "GO:1900069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900069", "evidence": [ { "database": "UniProtKB", "id": "O95202", "url": "https://www.uniprot.org/uniprot/O95202" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O95202", "url": "https://www.uniprot.org/uniprot/O95202" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "O95202", "url": "https://www.uniprot.org/uniprot/O95202" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "O95202", "url": "https://www.uniprot.org/uniprot/O95202" } ], "pmid": "" }, { "name": "ribosome binding", "id": "GO:0043022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043022", "evidence": [ { "database": "UniProtKB", "id": "O95202", "url": "https://www.uniprot.org/uniprot/O95202" } ], "pmid": "" }, { "name": "calcium:proton antiporter activity", "id": "GO:0015369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015369", "evidence": [ { "database": "UniProtKB", "id": "O95202", "url": "https://www.uniprot.org/uniprot/O95202" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { 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