{ "uniprot_canonical_ac": "Q8N442-1", "uniprot_ac": "Q8N442", "uniprot_id": "GUF1_HUMAN", "mass": { "chemical_mass": 74328.0, "monoisotopic_mass": 74328.0 }, "refseq": { "ac": "NP_068746", "name": "translation factor GUF1, mitochondrial isoform 1", "summary": "This gene encodes a GTPase that triggers back-translocation of the elongating ribosome during mitochondrial protein synthesis. The protein contains a highly conserved C-terminal domain not found in other GTPases that facilitates tRNA binding. The encoded protein is thought to prevent misincorporation of amino acids in stressful, suboptimal conditions. An allelic variant in this gene has been associated with early infantile epileptic encephalopathy-40. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068746" }, "gene_names": [ { "name": "GUF1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q8N442", "id": "Q8N442" }, { "name": "DEE40; EF-4; EF4; EIEE40", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068746", "id": "NP_068746" }, { "name": "GUF1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068746", "id": "NP_068746" } ], "protein_names": [ { "name": "Translation factor GUF1, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q8N442" }, { "name": "3.6.5.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8N442" }, { "name": "EF-4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8N442" }, { "name": "Elongation factor 4 homolog", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8N442" }, { "name": "GTPase GUF1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8N442" }, { "name": "GTPase of unknown function 1; GTP-binding protein GUF1 homolog; translation factor GUF1, mitochondrial; ribosomal back-translocase; elongation factor 4 homolog; GUF1 homolog, GTPase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068746", "id": "NP_068746" }, { "name": "Ribosomal back-translocase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8N442" }, { "name": "translation factor GUF1, mitochondrial isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068746", "id": "NP_068746" } ], "function": [ { "annotation": "Homozygous variant in the GUF1 gene identified in the three siblings with West syndrome.", "evidence": [ { "database": "RefSeq", "id": "NP_068746", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068746" }, { "database": "PubMed", "id": "26486472", "url": "https://glygen.org/publication/PubMed/26486472" } ] }, { "annotation": "Promotes mitochondrial protein synthesis. May act as a fidelity factor of the translation reaction, by catalyzing a one-codon backward translocation of tRNAs on improperly translocated ribosomes. Binds to mitochondrial ribosomes in a GTP-dependent manner.", "evidence": [ { "database": "UniProtKB", "id": "Q8N442", "url": "https://www.uniprot.org/uniprot/Q8N442#function" }, { "database": "UniProtKB", "id": "MF_03137", "url": "https://www.uniprot.org/uniprot/MF_03137#function" } ] }, { "annotation": "The structure provides insights into the tRNA-remodeling function of EF-4 on the ribosome and suggests that the displacement of the CCA-end of the A-site tRNA away from the peptidyl transferase center (PTC) is functionally significant.", "evidence": [ { "database": "RefSeq", "id": "NP_068746", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068746" }, { "database": "PubMed", "id": "27092003", "url": "https://glygen.org/publication/PubMed/27092003" } ] }, { "annotation": "This gene encodes a GTPase that triggers back-translocation of the elongating ribosome during mitochondrial protein synthesis. The protein contains a highly conserved C-terminal domain not found in other GTPases that facilitates tRNA binding. The encoded protein is thought to prevent misincorporation of amino acids in stressful, suboptimal conditions. An allelic variant in this gene has been associated with early infantile epileptic encephalopathy-40. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_068746", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068746" } ] } ], "disease": [ { "disease_id": "DOID:0080427", "recommended_name": { "id": "DOID:0080427", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080427", "name": "developmental and epileptic encephalopathy 40", "description": "A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the GUF1 gene on chromosome 4p12." }, "synonyms": [ { "id": "DOID:0080427", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080427", "name": "early infantile epileptic encephalopathy 40", "description": "" }, { "id": "DOID:0080427", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080427", "name": "DEE40", "description": "" }, { "id": "MONDO:0014895", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014895", "name": "developmental and epileptic encephalopathy, 40", "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GUF1 gene." }, { "id": "MONDO:0014895", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014895", "name": "DEE40", "description": "" }, { "id": "MONDO:0014895", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014895", "name": "EIEE40", "description": "" }, { "id": "MONDO:0014895", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014895", "name": "GUF1 early infantile epileptic encephalopathy", "description": "" }, { "id": "MONDO:0014895", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014895", "name": "developmental and epileptic encephalopathy 40", "description": "" }, { "id": "MONDO:0014895", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014895", "name": "early infantile epileptic encephalopathy caused by mutation in GUF1", "description": "" }, { "id": "MONDO:0014895", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014895", "name": "epileptic encephalopathy, early infantile, 40", "description": "" }, { "id": "MONDO:0014895", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014895", "name": "epileptic encephalopathy, early infantile, 40; EIEE40", "description": "" }, { "id": "MONDO:0014895", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014895", "name": "epileptic encephalopathy, early infantile, type 40", "description": "" }, { "id": "MIM:617065", "resource": "MIM", "url": "https://www.omim.org/entry/617065", "name": "Developmental and epileptic encephalopathy 40", "description": "Developmental and epileptic encephalopathy 40" } ], "evidence": [ { "id": "617065", "database": "MIM", "url": "https://www.omim.org/entry/617065" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "73.51", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000151806", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151806" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "82.03", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151806", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151806" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "70.23", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000151806", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151806" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000151806", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151806" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "83.88", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151806", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151806" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "86.47", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151806", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151806" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000151806", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151806" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "80.69", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151806", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151806" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "82.45", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151806", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151806" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000151806", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151806" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "79.54", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151806", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151806" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "83.1", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151806", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151806" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "82.61", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151806", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151806" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q8N442", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8N442" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the 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": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "Q8N442", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8N442" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "Q8N442", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8N442" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary 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 of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "Q8N442", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8N442" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"" }, { "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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"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 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"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": "Q8N442", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8N442" } ], "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 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "Q8N442", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8N442" } ], "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", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8N442" } ], "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": "No", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"database": "RefSeq", "categories": [ "Protein" ] }, { "id": "19669", "url": "https://www.rhea-db.org/rhea/19669", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "D6RBJ0", "url": "https://www.uniprot.org/uniprot/D6RBJ0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RBJ0-1", "url": "https://www.uniprot.org/uniprot/D6RBJ0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8N442", "url": "https://www.uniprot.org/uniprot/Q8N442", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8N442-1", "url": "https://www.uniprot.org/uniprot/Q8N442-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MWTLVGRGWGCARALAPRATGAALLVAPGPRSAPTLGAAPESWATDRLYSSAEFKEKLDMSRFPVENIRNFSIVAHVDHGKSTLADRLLELTGTIDKTKNNKQVLDKLQVERERGITVKAQTASLFYNCEGKQYLLNLIDTPGHVDFSYEVSRSLSACQGVLLVVDANEGIQAQTVANFFLAFEAQLSVIPVINKIDLKNADPERVENQIEKVFDIPSDECIKISAKLGTNVESVLQAIIERIPPPKVHRKNPLRALVFDSTFDQYRGVIANVALFDGVVSKGDKIVSAHTQKTYEVNEVGVLNPNEQPTHKLYAGQVGYLIAGMKDVTEAQIGDTLCLHKQPVEPLPGFKSAKPMVFAGMYPLDQSEYNNLKSAIEKLTLNDSSVTVHRDSSLALGAGWRLGFLGLLHMEVFNQRLEQEYNASVILTTPTVPYKAVLSSSKLIKEHREKEITIINPAQFPDKSKVTEYLEPVVLGTIITPDEYTGKIMMLCEARRAVQKNMIFIDQNRVMLKYLFPLNEIVVDFYDSLKSLSSGYASFDYEDAGYQTAELVKMDILLNGNTVEELVTVVHKDKAHSIGKAICERLKDSLPRQLFEIAIQAAIGSKIIARETVKAYRKNVLAKCYGGDITRKMKLLKRQAEGKKKLRKIGNVEVPKDAFIKVLKTQSSK", "length": 669, "header": "sp|Q8N442-1|GUF1_HUMAN Isoform 1 of Translation factor GUF1, mitochondrial OS=Homo sapiens OX=9606 GN=GUF1 PE=1 SV=1 CANONICAL=Q8N442-1" }, "isoforms": [ { "isoform_ac": "D6RBJ0-1", "url": "", "sequence": { "sequence": "MWTLVGRGWGCARALAPRATGAALLVAPGPRSAPTLGAAPESWATDRLYSSAEFKGQLIKQRIISRFLINCKWNEKEESLLKHRQHLSFTIVKESSTF", "length": 98, "header": "tr|D6RBJ0-1|D6RBJ0_HUMAN Computationally mapped isoform of GTP binding elongation factor GUF1 OS=Homo sapiens OX=9606 GN=GUF1 PE=4 SV=1 CANONICAL=Q8N442-1" }, "locus": { "chromosome": "4", "start_pos": 44680822, "end_pos": 44678623, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000513775.1", "url": "https://www.ensembl.org/id/ENST00000513775.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000422681.1", "url": "https://www.ensembl.org/id/ENSP00000422681.1" } ] } }, { "isoform_ac": "Q8N442-1", "url": "", "sequence": { "sequence": "MWTLVGRGWGCARALAPRATGAALLVAPGPRSAPTLGAAPESWATDRLYSSAEFKEKLDMSRFPVENIRNFSIVAHVDHGKSTLADRLLELTGTIDKTKNNKQVLDKLQVERERGITVKAQTASLFYNCEGKQYLLNLIDTPGHVDFSYEVSRSLSACQGVLLVVDANEGIQAQTVANFFLAFEAQLSVIPVINKIDLKNADPERVENQIEKVFDIPSDECIKISAKLGTNVESVLQAIIERIPPPKVHRKNPLRALVFDSTFDQYRGVIANVALFDGVVSKGDKIVSAHTQKTYEVNEVGVLNPNEQPTHKLYAGQVGYLIAGMKDVTEAQIGDTLCLHKQPVEPLPGFKSAKPMVFAGMYPLDQSEYNNLKSAIEKLTLNDSSVTVHRDSSLALGAGWRLGFLGLLHMEVFNQRLEQEYNASVILTTPTVPYKAVLSSSKLIKEHREKEITIINPAQFPDKSKVTEYLEPVVLGTIITPDEYTGKIMMLCEARRAVQKNMIFIDQNRVMLKYLFPLNEIVVDFYDSLKSLSSGYASFDYEDAGYQTAELVKMDILLNGNTVEELVTVVHKDKAHSIGKAICERLKDSLPRQLFEIAIQAAIGSKIIARETVKAYRKNVLAKCYGGDITRKMKLLKRQAEGKKKLRKIGNVEVPKDAFIKVLKTQSSK", "length": 669, "header": "sp|Q8N442-1|GUF1_HUMAN Isoform 1 of Translation factor GUF1, mitochondrial OS=Homo sapiens OX=9606 GN=GUF1 PE=1 SV=1 CANONICAL=Q8N442-1" }, "locus": { "chromosome": "4", "start_pos": 44698678, "end_pos": 44678623, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000281543.6", "url": "https://www.ensembl.org/id/ENST00000281543.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000281543.5", "url": "https://www.ensembl.org/id/ENSP00000281543.5" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "Q8N442", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N442" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1.", "journal": "Eur. J. Hum. Genet.", "date": "2016", "authors": "Alfaiz AA, Muller V, Boutry-Kryza N, Ville D, Guex N, de Bellescize J, Rivier C, Labalme A, des Portes V, Edery P, Till M, Xenarios I, Sanlaville D, Herrmann JM, Lesca G, Reymond A", "evidence": [ { "database": "UniProtKB", "id": "Q8N442", "url": "https://www.uniprot.org/uniprot/Q8N442" }, { "database": "RefSeq", "id": "NP_068746", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068746" } ], "reference": [ { "type": "PubMed", "id": "26486472", "url": "https://glygen.org/publication/PubMed/26486472" } ] }, { "title": "Elongation factor 4 remodels the A-site tRNA on the ribosome.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2016", "authors": "Gagnon MG, Lin J, Steitz TA", "evidence": [ { "database": "RefSeq", "id": "NP_068746", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068746" } ], "reference": [ { "type": "PubMed", "id": "27092003", "url": "https://glygen.org/publication/PubMed/27092003" } ] }, { "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": "Q8N442", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N442" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "pathway": [ { "id": "hsa:60558", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:60558", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZHF8-1", "protein_name": "GTP binding elongation factor GUF1", "gene_name": "Guf1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MWALAGRALAPWAAGAARLLPPCPRHAGVLEPGVACRLFSAAELKEKPDMSRFPVEDIRNFSIIAHVDHGKSTLADRLLELTGTIDKTQKNKQVLDKLQVERERGITVKAQTASLFYSFGGKQYLLNLIDTPGHVDFSYEVSRSLSACQGVLLVVDANEGIQAQTVANFFLAFEAQLSVIPVINKIDLKNADPERVGKQIEKVFDIPSEECIKISAKLGTNVDSVLQAVIERIPPPKVHRANPLKALVFDSTFDQYRGVVASIALFDGMLSKGDKIVSAHTKKTYEVNQVGILNPNEQPTHKLYAGQVGFLIAGMKDVTEAQIGDTLYLHNHPVEPLPGFKSAKPMVFAGVYPIDQSEYNNLKSAIEKLTLNDSSVTVHRDSSLALGAGWRLGFLGLLHMEVFNQRLEQEYNASVILTTPTVPYKAVLSSAKLIKEYKEKEITIINPAQFPDKSKVTEYLEPVVLGTVITPTEYTGKIMELCQARRAIQKNMTFIDENRVMLKYLFPLNEIVVDFYDSLKSLSSGYASFDYEDAGYQTADLIKMDILLNGNIVEELVTVVHREKAYTVGKSICERLKDSLPRQLFEIAVQAAIGSKVIARETVKAYRKNVLAKCYGGDITRKMKLLKRQAEGKKKLRKIGNIEIPKNAFIKVLKTQPNK", "length": 659 }, "evidence": [ { "id": "45235769", "url": "http://www.informatics.jax.org/homology/45235769", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P46943-1", "protein_name": "Translation factor GUF1, mitochondrial", "gene_name": "GUF1", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MLKFRIRPVRHIRCYKRHAYFLRYNHTTTPAQKLQAQIEQIPLENYRNFSIVAHVDHGKSTLSDRLLEITHVIDPNARNKQVLDKLEVERERGITIKAQTCSMFYKDKRTGKNYLLHLIDTPGHVDFRGEVSRSYASCGGAILLVDASQGIQAQTVANFYLAFSLGLKLIPVINKIDLNFTDVKQVKDQIVNNFELPEEDIIGVSAKTGLNVEELLLPAIIDRIPPPTGRPDKPFRALLVDSWYDAYLGAVLLVNIVDGSVRKNDKVICAQTKEKYEVKDIGIMYPDRTSTGTLKTGQVGYLVLGMKDSKEAKIGDTIMHLSKVNETEVLPGFEEQKPMVFVGAFPADGIEFKAMDDDMSRLVLNDRSVTLERETSNALGQGWRLGFLGSLHASVFRERLEKEYGSKLIITQPTVPYLVEFTDGKKKLITNPDEFPDGATKRVNVAAFHEPFIEAVMTLPQEYLGSVIRLCDSNRGEQIDITYLNTNGQVMLKYYLPLSHLVDDFFGKLKSVSRGFASLDYEDAGYRISDVVKLQLLVNGNAIDALSRVLHKSEVERVGREWVKKFKEYVKSQLYEVVIQARANNKIIARETIKARRKDVLQKLHASDVSRRKKLLAKQKEGKKHMKTVGNIQINQEAYQAFLRR", "length": 645 }, "evidence": [ { "id": "Q8N442", "url": "https://omabrowser.org/oma/group/Q8N442/", "database": "OMA" } ], "common_name": "Yeast" }, { "uniprot_canonical_ac": "Q8C3X4-1", "protein_name": "Translation factor Guf1, mitochondrial", "gene_name": "Guf1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MWALVGRALAPWAAGARHAAASEPRAACRLFSAAELKEKPDMSRFPVEDIRNFSIIAHVDHGKSTLADRLLELTGTIDKTKKNKQVLDKLQVERERGITVKAQTASLFYSFGGKQYLLNLIDTPGHVDFSYEVSRSLSACQGVLLVVDANEGIQAQTVANFFLAFEAQLSVIPVINKIDLKNADPERVGKQIEKVFDIPSEECIKISAKLGTNVDSVLQAVIERIPPPKVHRENPLKALVFDSTFDQYRGVIANIALFDGVVSKGDKIVSAHTKKAYEVNEVGILNPNEQPTHKLYAGQVGFLIAGMKDVTEAQIGDTLYLHNHPVEPLPGFKSAKPMVFAGVYPIDQSEYNNLKSAIEKLTLNDSSVTVHRDSSLALGAGWRLGFLGLLHMEVFNQRLEQEYNASVILTTPTVPYKAVLSSAKLIKEYKEKEITIINPAQFPEKSQVTEYLEPVVLGTVITPTEYTGKIMALCQARRAIQKNMTFIDENRVMLKYLFPLNEIVVDFYDSLKSLSSGYASFDYEDAGYQTAELVKMDILLNGNMVEELVTVVHREKAYTVGKSICERLKESLPRQLYEIAIQAAVGSKVIARETVKAYRKNVLAKCYGGDITRKMKLLKRQSEGKKKLRKIGNIEIPKDAFIKVLKTQPNK", "length": 651 }, "evidence": [ { "id": "45235769", "url": "http://www.informatics.jax.org/homology/45235769", "database": "MGI" }, { "id": "Q8N442", "url": "https://omabrowser.org/oma/group/Q8N442/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9VRH6-1", "protein_name": "Translation factor waclaw, mitochondrial", "gene_name": "waw", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MIVGYSVFFHHTVTRRTWCAVTIFFCRQRNVNSAMIRAISIRWLLQRPGDKRHSAWLVARSKSLLVRNLSTTNQVKGETEEPSQADLLREFAHMPVERIRNFSIIAHVDHGKSTLADRLLELTGAIARNGGQHQVLDNLQVERERGITVKAQTASIFHRHKGQLYLLNLIDTPGHVDFSNEVSRSLAACDGVVLLVDACHGVQAQTVANYHLAKQRQLAVVPVLNKIDIKHANPDQVCQDLKLLFGIDPDEVLRVSAKLGTGVSEVLERVIETVPPPQVQRDSDFRALIFDSWFDKYRGALNLIYVLNGKLEQNQDIQSLATKKVYSVKSISVLRPAECPVPDVSAGQVGLIACNMRNSKESIVGDTIHLKNQAVAAAGSYRPQQPLVFAGVFPADQSKHVALRSAIDKMVLNDSAVTVKIDSSPALGQGWRLGFLGLLHMEVFCQRLEQEHGAEPIITAPSVTYRLVLSNPKMIKQQGRDTMDISNAALFPEPHSIKEYYEPLVLGTIITPTEYVGQVISLCVERRGLQQSSVNIDDTRVLMKYVLPLSEIILDFHDRLKSLSSGYASFSYEDHGYHPSHLVRLDIHLNGKPVEELCRIVHVSKATGVARQMVLKLRELIPKQMVQIAIQACVGSKVLARETIKAYRKDVTAKLYGGDVTRRMKLLKQQAEGKKKMRMFANIRVPHETFINVLKR", "length": 696 }, "evidence": [ { "id": "Q8N442", "url": "https://omabrowser.org/oma/group/Q8N442/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q8N442", "url": "https://www.uniprot.org/uniprot/Q8N442" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q8N442", "url": "https://www.uniprot.org/uniprot/Q8N442" } ], "pmid": "" }, { "name": "mitochondrial ribosome binding", "id": "GO:0097177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097177", "evidence": [ { "database": "UniProtKB", "id": "Q8N442", "url": "https://www.uniprot.org/uniprot/Q8N442" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8N442", "url": "https://www.uniprot.org/uniprot/Q8N442" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q8N442", "url": "https://www.uniprot.org/uniprot/Q8N442" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q8N442", "url": "https://www.uniprot.org/uniprot/Q8N442" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "translation", "id": "GO:0006412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006412", "evidence": [ { "database": "UniProtKB", "id": "Q8N442", "url": "https://www.uniprot.org/uniprot/Q8N442" } ], "pmid": "" }, { "name": "positive regulation of translation", "id": "GO:0045727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045727", "evidence": [ { "database": "UniProtKB", "id": "Q8N442", "url": "https://www.uniprot.org/uniprot/Q8N442" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 382, "end_pos": 384, "annotation": "n_glycosylation_sequon" }, { "start_pos": 422, "end_pos": 424, "annotation": "n_glycosylation_sequon" }, { "start_pos": 70, "end_pos": 72, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "19669", "name": "", "equation": "GTP + H2O = GDP + H(+) + phosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q08877-1", "Q6AYC2-1", "Q2TA68-1", "P61589-1", "Q6RUV5-1", "P23640-1", "P21575-1", "P39052-1", "O35303-1", "Q6AYF9-1", "Q8CFN2-1", "Q63663-1", "M0RC99-1", "Q99P74-1", "B2GUV7-1", "Q8R4Z9-1", "Q8R500-1", "D3ZQL7-1", "P97538-1", "Q6IMA3-1", "Q5BJQ5-1", "Q62636-1", "Q63486-1", "Q63487-1", "P61227-1", "P62836-1", "P63322-1", "Q04970-1", "P08644-1", "D3Z8L7-1", "P35281-1", "P36860-1", 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"https://www.uniprot.org/uniprot/P03967" } ] } ] }, { "uniprot_ac": "P04388", "gene_name": "Ras64B", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P04388", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04388" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P04388", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04388" } ] } ] }, { "uniprot_ac": "P05197", "gene_name": "Eef2", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P05197", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05197" } ] } ] }, { "uniprot_ac": "P05213", "gene_name": "Tuba1b", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P05213", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05213" } ] } ] }, { "uniprot_ac": "P05214", "gene_name": "Tuba3a", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P05214", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05214" } ] } ] }, { "uniprot_ac": "P05453", "gene_name": "SUP35", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P05453", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05453" } ] } ] }, { "uniprot_ac": "P05712", "gene_name": "Rab2a", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P05712", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05712" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P05712", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05712" } ] } ] }, { "uniprot_ac": "P05714", "gene_name": "Rab4a", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P05714", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05714" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P05714", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05714" } ] } ] }, { "uniprot_ac": "P06603", "gene_name": "alphaTub84B", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P06603", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06603" } ] } ] }, { "uniprot_ac": "P06604", "gene_name": "alphaTub85E", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P06604", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06604" } ] } ] }, { "uniprot_ac": "P06605", "gene_name": "alphaTub84D", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P06605", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06605" } ] } ] }, { "uniprot_ac": "P06606", "gene_name": "alphaTub67C", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P06606", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06606" } ] } ] }, { "uniprot_ac": "P06780", "gene_name": "RHO1", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P06780", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06780" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P06780", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06780" } ] } ] }, { "uniprot_ac": "P06781", "gene_name": "RHO2", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P06781", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06781" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P06781", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06781" } ] } ] }, { "uniprot_ac": "P08556", "gene_name": "Nras", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P08556", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08556" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P08556", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08556" } ] } ] }, { "uniprot_ac": "P08644", "gene_name": "Kras", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P08644", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08644" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P08644", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08644" } ] } ] }, { "uniprot_ac": "P08645", "gene_name": "Rap1", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P08645", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08645" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P08645", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08645" } ] } ] }, { "uniprot_ac": "P08646", "gene_name": "Ras85D", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P08646", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08646" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P08646", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08646" } ] } ] }, { "uniprot_ac": "P09527", "gene_name": "Rab7a", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P09527", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09527" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P09527", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09527" } ] } ] }, { "uniprot_ac": "P09733", "gene_name": "TUB1", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P09733", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09733" } ] } ] }, { "uniprot_ac": "P09734", "gene_name": "TUB3", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P09734", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09734" } ] } ] }, { "uniprot_ac": "P0CT31", "gene_name": "eef1a1", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P0CT31", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0CT31" } ] } ] }, { "uniprot_ac": "P0DPH7", "gene_name": "TUBA3C", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P0DPH7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0DPH7" } ] } ] }, { "uniprot_ac": "P0DPH8", "gene_name": "TUBA3D", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P0DPH8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0DPH8" } ] } ] }, { "uniprot_ac": "P10114", "gene_name": "RAP2A", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P10114", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10114" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P10114", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10114" } ] } ] }, { "uniprot_ac": "P10126", "gene_name": "Eef1a1", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P10126", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10126" } ] } ] }, { "uniprot_ac": "P10301", "gene_name": "RRAS", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P10301", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10301" } ] } ] }, { "uniprot_ac": "P10536", "gene_name": "Rab1b", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P10536", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10536" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P10536", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10536" } ] } ] }, { "uniprot_ac": "P10833", "gene_name": "Rras", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P10833", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10833" } ] } ] }, { "uniprot_ac": "P11076", "gene_name": "ARF1", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P11076", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11076" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P11076", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11076" } ] } ] }, { "uniprot_ac": "P11233", "gene_name": "RALA", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P11233", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11233" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P11233", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11233" } ] } ] }, { "uniprot_ac": "P11234", "gene_name": "RALB", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P11234", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11234" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P11234", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11234" } ] } ] }, { "uniprot_ac": "P13060", "gene_name": "eEF2", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P13060", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13060" } ] } ] }, { "uniprot_ac": "P13639", "gene_name": "EEF2", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P13639", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13639" } ] } ] }, { "uniprot_ac": "P13856", "gene_name": "RSR1", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P13856", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13856" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P13856", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13856" } ] } ] }, { "uniprot_ac": "P14576", "gene_name": "Srp54", "activity": [ { "ec_number": "3.6.5.4", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P14576", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14576" } ] }, { "ec_number": "3.6.5.4", "activity": "", "evidence": [ { "id": "P14576", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14576" } ] } ] }, { "uniprot_ac": "P15064", "gene_name": "rasG", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P15064", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15064" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P15064", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15064" } ] } ] }, { "uniprot_ac": "P15112", "gene_name": "efbA", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P15112", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15112" } ] } ] }, { "uniprot_ac": "P15170", "gene_name": "GSPT1", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P15170", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15170" } ] } ] }, { "uniprot_ac": "P18613", "gene_name": "rapA", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P18613", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18613" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P18613", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18613" } ] } ] }, { "uniprot_ac": "P19073", "gene_name": "CDC42", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P19073", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P19073" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P19073", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P19073" } ] } ] }, { "uniprot_ac": "P20171", "gene_name": "Hras", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P20171", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20171" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P20171", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20171" } ] } ] }, { "uniprot_ac": "P20338", "gene_name": "RAB4A", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P20338", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20338" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P20338", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20338" } ] } ] }, { "uniprot_ac": "P20339", "gene_name": "RAB5A", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P20339", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20339" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P20339", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20339" } ] } ] }, { "uniprot_ac": "P20424", "gene_name": "SRP54", "activity": [ { "ec_number": "3.6.5.4", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P20424", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20424" } ] }, { "ec_number": "3.6.5.4", "activity": "", "evidence": [ { "id": "P20424", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20424" } ] } ] }, { "uniprot_ac": "P20606", "gene_name": "SAR1", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P20606", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20606" } ] } ] }, { "uniprot_ac": "P21575", "gene_name": "Dnm1", "activity": [ { "ec_number": "3.6.5.5", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P21575", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P21575" } ] }, { "ec_number": "3.6.5.5", "activity": "", "evidence": [ { "id": "P21575", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P21575" } ] } ] }, { "uniprot_ac": "P23640", "gene_name": "Rab27a", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P23640", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P23640" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P23640", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P23640" } ] } ] }, { "uniprot_ac": "P27619", "gene_name": "shi", "activity": [ { "ec_number": "3.6.5.5", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P27619", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P27619" } ] }, { "ec_number": "3.6.5.5", "activity": "", "evidence": [ { "id": "P27619", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P27619" } ] } ] }, { "uniprot_ac": "P32233", "gene_name": "Drg1", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P32233", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P32233" } ] } ] }, { "uniprot_ac": "P32252", "gene_name": "rasB", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P32252", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P32252" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P32252", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P32252" } ] } ] }, { "uniprot_ac": "P32253", "gene_name": "rasC", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P32253", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P32253" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P32253", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P32253" } ] } ] }, { "uniprot_ac": "P32254", "gene_name": "rasS", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P32254", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P32254" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P32254", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P32254" } ] } ] }, { "uniprot_ac": "P32255", "gene_name": "tubA", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P32255", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P32255" } ] } ] }, { "uniprot_ac": "P32324", "gene_name": "EFT1", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P32324", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P32324" } ] } ] }, { "uniprot_ac": "P32455", "gene_name": "GBP1", "activity": [ { "ec_number": "3.6.1.-", "activity": "", "evidence": [ { "id": "P32455", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P32455" } ] }, { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P32455", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P32455" } ] } ] }, { "uniprot_ac": "P32456", "gene_name": "GBP2", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P32456", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P32456" } ] } ] }, { "uniprot_ac": "P32481", "gene_name": "GCD11", "activity": [ { "ec_number": "3.6.5.3", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P32481", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P32481" } ] }, { "ec_number": "3.6.5.3", "activity": "", "evidence": [ { "id": "P32481", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P32481" } ] } ] }, { "uniprot_ac": "P32769", "gene_name": "HBS1", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P32769", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P32769" } ] } ] }, { "uniprot_ac": "P32883", "gene_name": "Kras", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P32883", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P32883" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P32883", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P32883" } ] } ] }, { "uniprot_ac": "P35278", "gene_name": "Rab5c", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P35278", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P35278" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P35278", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P35278" } ] } ] }, { "uniprot_ac": "P35280", "gene_name": "Rab8a", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P35280", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P35280" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P35280", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P35280" } ] } ] }, { "uniprot_ac": "P35281", "gene_name": "Rab10", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P35281", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P35281" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P35281", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P35281" } ] } ] }, { "uniprot_ac": "P36409", "gene_name": "rab2A", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P36409", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36409" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P36409", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36409" } ] } ] }, { "uniprot_ac": "P36411", "gene_name": "rab7A", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P36411", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36411" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P36411", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36411" } ] } ] }, { "uniprot_ac": "P36860", "gene_name": "Ralb", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P36860", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36860" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P36860", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36860" } ] } ] }, { "uniprot_ac": "P38297", "gene_name": "FZO1", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P38297", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P38297" } ] } ] }, { "uniprot_ac": "P39052", "gene_name": "Dnm2", "activity": [ { "ec_number": "3.6.5.5", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P39052", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P39052" } ] }, { "ec_number": "3.6.5.5", "activity": "", "evidence": [ { "id": "P39052", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P39052" } ] } ] }, { "uniprot_ac": "P39053", "gene_name": "Dnm1", "activity": [ { "ec_number": "3.6.5.5", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P39053", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P39053" } ] }, { "ec_number": "3.6.5.5", "activity": "", "evidence": [ { "id": "P39053", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P39053" } ] } ] }, { "uniprot_ac": "P39054", "gene_name": "Dnm2", "activity": [ { "ec_number": "3.6.5.5", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P39054", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P39054" } ] }, { "ec_number": "3.6.5.5", "activity": "", "evidence": [ { "id": "P39054", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P39054" } ] } ] }, { "uniprot_ac": "P39730", "gene_name": "FUN12", "activity": [ { "ec_number": "3.6.5.3", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P39730", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P39730" } ] }, { "ec_number": "3.6.5.3", "activity": "", "evidence": [ { "id": "P39730", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P39730" } ] } ] }, { "uniprot_ac": "P40793", "gene_name": "Cdc42", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P40793", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P40793" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P40793", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P40793" } ] } ] }, { "uniprot_ac": "P41091", "gene_name": "EIF2S3", "activity": [ { "ec_number": "3.6.5.3", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P41091", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P41091" } ] }, { "ec_number": "3.6.5.3", "activity": "", "evidence": [ { "id": "P41091", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P41091" } ] } ] }, { "uniprot_ac": "P46638", "gene_name": "Rab11b", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P46638", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P46638" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P46638", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P46638" } ] } ] }, { "uniprot_ac": "P46943", "gene_name": "GUF1", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P46943", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P46943" } ] } ] }, { "uniprot_ac": "P48555", "gene_name": "Rala", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P48555", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P48555" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P48555", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P48555" } ] } ] }, { "uniprot_ac": "P50570", "gene_name": "DNM2", "activity": [ { "ec_number": "3.6.5.5", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P50570", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50570" } ] }, { "ec_number": "3.6.5.5", "activity": "", "evidence": [ { "id": "P50570", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50570" } ] } ] }, { "uniprot_ac": "P51146", "gene_name": "Rab4b", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P51146", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51146" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P51146", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51146" } ] } ] }, { "uniprot_ac": "P51148", "gene_name": "RAB5C", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P51148", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51148" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P51148", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51148" } ] } ] }, { "uniprot_ac": "P51149", "gene_name": "RAB7A", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P51149", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51149" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P51149", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51149" } ] } ] }, { "uniprot_ac": "P51150", "gene_name": "Rab7a", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P51150", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51150" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P51150", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51150" } ] } ] }, { "uniprot_ac": "P51159", "gene_name": "RAB27A", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P51159", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51159" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P51159", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51159" } ] } ] }, { "uniprot_ac": "P53290", "gene_name": "GTR2", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P53290", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53290" } ] } ] }, { "uniprot_ac": "P53729", "gene_name": "ZNG1", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P53729", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53729" } ] } ] }, { "uniprot_ac": "P53893", "gene_name": "RIA1", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P53893", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53893" } ] } ] }, { "uniprot_ac": "P53994", "gene_name": "Rab2a", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P53994", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53994" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P53994", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53994" } ] } ] }, { "uniprot_ac": "P54861", "gene_name": "DNM1", "activity": [ { "ec_number": "3.6.5.5", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P54861", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P54861" } ] }, { "ec_number": "3.6.5.5", "activity": "", "evidence": [ { "id": "P54861", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P54861" } ] } ] }, { "uniprot_ac": "P55039", "gene_name": "DRG2", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P55039", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P55039" } ] } ] }, { "uniprot_ac": "P55258", "gene_name": "Rab8a", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P55258", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P55258" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P55258", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P55258" } ] } ] }, { "uniprot_ac": "P56371", "gene_name": "Rab4a", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P56371", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P56371" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P56371", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P56371" } ] } ] }, { "uniprot_ac": "P58252", "gene_name": "Eef2", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P58252", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P58252" } ] } ] }, { "uniprot_ac": "P58281", "gene_name": "Opa1", "activity": [ { "ec_number": "3.6.5.5", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P58281", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P58281" } ] }, { "ec_number": "3.6.5.5", "activity": "", "evidence": [ { "id": "P58281", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P58281" } ] } ] }, { "uniprot_ac": "P59279", "gene_name": "Rab2b", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P59279", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P59279" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P59279", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P59279" } ] } ] }, { "uniprot_ac": "P60763", "gene_name": "RAC3", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P60763", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P60763" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P60763", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P60763" } ] } ] }, { "uniprot_ac": "P60764", "gene_name": "Rac3", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P60764", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P60764" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P60764", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P60764" } ] } ] }, { "uniprot_ac": "P60766", "gene_name": "Cdc42", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P60766", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P60766" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P60766", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P60766" } ] } ] }, { "uniprot_ac": "P60953", "gene_name": "CDC42", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P60953", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P60953" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P60953", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P60953" } ] } ] }, { "uniprot_ac": "P61006", "gene_name": "RAB8A", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P61006", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61006" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P61006", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61006" } ] } ] }, { "uniprot_ac": "P61011", "gene_name": "SRP54", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P61011", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61011" } ] }, { "ec_number": "3.6.5.4", "activity": "GTP + H2O = GDP + H(+) + phosphate.", 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"activity": "", "evidence": [ { "id": "P62332", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62332" } ] } ] }, { "uniprot_ac": "P62491", "gene_name": "RAB11A", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P62491", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62491" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P62491", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62491" } ] } ] }, { "uniprot_ac": "P62492", "gene_name": "Rab11a", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P62492", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62492" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P62492", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62492" } ] } ] }, { "uniprot_ac": "P62494", "gene_name": "Rab11a", 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