{ "uniprot_canonical_ac": "O43716-1", "uniprot_ac": "O43716", "uniprot_id": "GATC_HUMAN", "mass": { "chemical_mass": 15086.0, "monoisotopic_mass": 15086.0 }, "refseq": { "ac": "NP_789788", "name": "glutamyl-tRNA(Gln) amidotransferase subunit C, mitochondrial", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_789788" }, "gene_names": [ { "name": "GATC", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43716", "id": "O43716" }, { "name": "15E1.2; COXPD42", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_789788", "id": "NP_789788" }, { "name": "15E1.2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43716", "id": "O43716" }, { "name": "GATC", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_789788", "id": "NP_789788" } ], "protein_names": [ { "name": "Glutamyl-tRNA(Gln) amidotransferase subunit C, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43716" }, { "name": "6.3.5.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43716" }, { "name": "Glu-AdT subunit C", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43716" }, { "name": "Protein 15E1.2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43716" }, { "name": "glu-AdT subunit C; glutamyl-tRNA(Gln) amidotransferase, subunit C homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_789788", "id": "NP_789788" }, { "name": "glutamyl-tRNA(Gln) amidotransferase subunit C, mitochondrial", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_789788", "id": "NP_789788" } ], "function": [ { "annotation": "Allows the formation of correctly charged Gln-tRNA(Gln) through the transamidation of misacylated Glu-tRNA(Gln) in the mitochondria. The reaction takes place in the presence of glutamine and ATP through an activated gamma-phospho-Glu-tRNA(Gln).", "evidence": [ { "database": "UniProtKB", "id": "O43716", "url": "https://www.uniprot.org/uniprot/O43716#function" }, { "database": "PubMed", "id": "19805282", "url": "https://glygen.org/publication/PubMed/19805282" }, { "database": "UniProtKB", "id": "MF_03149", "url": "https://www.uniprot.org/uniprot/MF_03149#function" } ] }, { "annotation": "Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_789788", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_789788" }, { "database": "PubMed", "id": "20877624", "url": "https://glygen.org/publication/PubMed/20877624" } ] }, { "annotation": "Studies showed in vitro Gln-tRNA(Gln) formation catalyzed by the recombinant mtGluRS and hGatCAB.", "evidence": [ { "database": "RefSeq", "id": "NP_789788", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_789788" }, { "database": "PubMed", "id": "19805282", "url": "https://glygen.org/publication/PubMed/19805282" } ] }, { "annotation": "The mitochondrial defective phenotype provoked by the absence of gatA in human cells is confirmed by means of a deficient ability to grow when galactose is used as a carbon source.", "evidence": [ { "database": "RefSeq", "id": "NP_789788", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_789788" }, { "database": "PubMed", "id": "24579914", "url": "https://glygen.org/publication/PubMed/24579914" } ] } ], "disease": [ { "disease_id": "DOID:0112118", "recommended_name": { "id": "DOID:0112118", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112118", "name": "combined oxidative phosphorylation deficiency 42", "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATC gene on chromosome 12q24.31." }, "synonyms": [ { "id": "DOID:0112118", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112118", "name": "COXPD42", "description": "" }, { "id": "MONDO:0030008", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030008", "name": "combined oxidative phosphorylation deficiency 42", "description": "" }, { "id": "MONDO:0030008", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030008", "name": "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42", "description": "" }, { "id": "MONDO:0030008", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030008", "name": "COXPD42", "description": "" }, { "id": "MONDO:0030008", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030008", "name": "combined oxidative phosphorylation deficiency 42", "description": "" }, { "id": "MIM:618839", "resource": "MIM", "url": "https://www.omim.org/entry/618839", "name": "Combined oxidative phosphorylation deficiency 42", "description": "Combined oxidative phosphorylation deficiency 42" } ], "evidence": [ { "id": "618839", "database": "MIM", "url": "https://www.omim.org/entry/618839" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "76.37", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000257218", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000257218" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "79.58", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000257218", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000257218" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "76.32", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000257218", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000257218" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "64.49", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000257218", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000257218" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "83.82", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000257218", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000257218" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "84.54", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000257218", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000257218" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "60.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000257218", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000257218" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "79.81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000257218", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000257218" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "82.25", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000257218", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000257218" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "54.18", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000257218", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000257218" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "83.16", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000257218", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000257218" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "79.46", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000257218", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000257218" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "81.35", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000257218", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000257218" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O43716", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43716" } ], "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": 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"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": "O43716", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43716" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { 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"name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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Computationally mapped isoform of Glutamyl-tRNA(Gln) amidotransferase subunit C, mitochondrial OS=Homo sapiens OX=9606 GN=GATC PE=1 SV=1 CANONICAL=O43716-1" }, "locus": { "chromosome": "12", "start_pos": 120459920, "end_pos": 120446807, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000229384.5", "url": "https://www.ensembl.org/id/ENST00000229384.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000229384.5", "url": "https://www.ensembl.org/id/ENSP00000229384.5" } ] } }, { "isoform_ac": "O43716-1", "url": "", "sequence": { "sequence": "MWSRLVWLGLRAPLGGRQGFTSKADPQGSGRITAAVIEHLERLALVDFGSREAVARLEKAIAFADRLRAVDTDGVEPMESVLEDRCLYLRSDNVVEGNCADELLQNSHRVVEEYFVAPPGNISLPKLDEQEPFPHS", "length": 136, "header": "sp|O43716-1|GATC_HUMAN Isoform 1 of Glutamyl-tRNA(Gln) amidotransferase subunit C, mitochondrial OS=Homo sapiens OX=9606 GN=GATC PE=1 SV=1 CANONICAL=O43716-1" }, "locus": { "chromosome": "12", "start_pos": 120459956, "end_pos": 120446481, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000551765.6", "url": "https://www.ensembl.org/id/ENST00000551765.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000446872.1", "url": "https://www.ensembl.org/id/ENSP00000446872.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O43716", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43716" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Biogenesis of glutaminyl-mt tRNAGln in human mitochondria.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2009", "authors": "Nagao A, Suzuki T, Katoh T, Sakaguchi Y, Suzuki T", "evidence": [ { "database": "UniProtKB", "id": "O43716", "url": "https://www.uniprot.org/uniprot/O43716" }, { "database": "RefSeq", "id": "NP_789788", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_789788" } ], "reference": [ { "type": "PubMed", "id": "19805282", "url": "https://glygen.org/publication/PubMed/19805282" } ] }, { "title": "Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.", "journal": "PloS one", "date": "2010", "authors": "Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ", "evidence": [ { "database": "RefSeq", "id": "NP_789788", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_789788" } ], "reference": [ { "type": "PubMed", "id": "20877624", "url": "https://glygen.org/publication/PubMed/20877624" } ] }, { "title": "Glutamyl-tRNAGln amidotransferase is essential for mammalian mitochondrial translation in vivo.", "journal": "The Biochemical journal", "date": "2014", "authors": "Echevarria L, Clemente P, Hernandez-Sierra R, Gallardo ME, Fernandez-Moreno MA, Garesse R", "evidence": [ { "database": "RefSeq", "id": "NP_789788", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_789788" } ], "reference": [ { "type": "PubMed", "id": "24579914", "url": "https://glygen.org/publication/PubMed/24579914" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43716", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43716" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "Pathogenic variants in glutamyl-tRNA(Gln) amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.", "journal": "Nature communications", "date": "2018", "authors": "Friederich MW, Timal S, Powell CA, Dallabona C, Kurolap A, Palacios-Zambrano S, Bratkovic D, Derks TGJ, Bick D, Bouman K, Chatfield KC, Damouny-Naoum N, Dishop MK, Falik-Zaccai TC, Fares F, Fedida A, Ferrero I, Gallagher RC, Garesse R, Gilberti M, Gonzalez C, Gowan K, Habib C, Halligan RK, Kalfon L, Knight K, Lefeber D, Mamblona L, Mandel H, Mory A, Ottoson J, Paperna T, Pruijn GJM, Rebelo-Guiomar PF, Saada A, Sainz B Jr, Salvemini H, Schoots MH, Smeitink JA, Szukszto MJ, Ter Horst HJ, van den Brandt F, van Spronsen FJ, Veltman JA, Wartchow E, Wintjes LT, Zohar Y, Fernandez-Moreno MA, Baris HN, Donnini C, Minczuk M, Rodenburg RJ, Van Hove JLK", "evidence": [ { "database": "UniProtKB", "id": "O43716", "url": "https://www.uniprot.org/uniprot/O43716" } ], "reference": [ { "type": "PubMed", "id": "30283131", "url": "https://glygen.org/publication/PubMed/30283131" } ] } ], "pathway": [ { "id": "hsa:283459", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:283459", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZY68-1", "protein_name": "Glutamyl-tRNA(Gln) amidotransferase subunit C, mitochondrial", "gene_name": "Gatc", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MWAQAARVQFRAPLDRGRSFASKVGPRGKVQAADPKTQAPRLVPEGTDRVSAAVVEHLERLALVNFSSREAVDRLEKAVAFADQLHAVDTDGVEPLESVLEDRCLYLRSDKVAEGGCAEELLQNSNHVVEEYFVAPPGNIPLPDMVGKVPSSTAE", "length": 155 }, "evidence": [ { "id": "45932213", "url": "http://www.informatics.jax.org/homology/45932213", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q86BL4-1", "protein_name": "Glutamyl-tRNA(Gln) amidotransferase subunit C, mitochondrial", "gene_name": "GatC", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MLRLFSSRFYCKIATKSNEKATKLDFKQLTHPTKVPQTPVDSKFPDTSASEIQIDTKTIQLLERLSLVDLDSERALATLKSSIQFADKIAHINTEHVRPLYTVLEHQQLQLRNDQVTEGDCRAEVLRNAKVTDEDYFVSPPGNIPLEQ", "length": 148 }, "evidence": [ { "id": "O43716", "url": "https://omabrowser.org/oma/group/O43716/", "database": "OMA" } ], "common_name": "Fruit fly" }, { "uniprot_canonical_ac": "Q8CBY0-1", "protein_name": "Glutamyl-tRNA(Gln) amidotransferase subunit C, mitochondrial", "gene_name": "Gatc", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MWSRAASVRFRAPLDAGRSFASKANPQGKVQAAGLGTQAPRLVPQGSGRVSPAVIEHLERLALVNFGSREAVDRLEKAIAFADQLHAVDTDGVEPLESVLEDRCLYLRSDNVAEGSCAEELLQNSNHVVEEYFVAPPGNISLPDMVNKIPSSTAE", "length": 155 }, "evidence": [ { "id": "45932213", "url": "http://www.informatics.jax.org/homology/45932213", "database": "MGI" }, { "id": "O43716", "url": "https://omabrowser.org/oma/group/O43716/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "regulation of translational fidelity", "id": "GO:0006450", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006450", "evidence": [ { "database": "UniProtKB", "id": "O43716", "url": "https://www.uniprot.org/uniprot/O43716" } ], "pmid": "" }, { "name": "mitochondrial translation", "id": "GO:0032543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032543", "evidence": [ { "database": "UniProtKB", "id": "O43716", "url": "https://www.uniprot.org/uniprot/O43716" } ], "pmid": "" }, { "name": "glutaminyl-tRNAGln biosynthesis via transamidation", "id": "GO:0070681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070681", "evidence": [ { "database": "UniProtKB", "id": "O43716", "url": "https://www.uniprot.org/uniprot/O43716" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "O43716", "url": "https://www.uniprot.org/uniprot/O43716" } ], "pmid": "" }, { "name": "glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity", "id": "GO:0050567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050567", "evidence": [ { "database": "UniProtKB", "id": "O43716", "url": "https://www.uniprot.org/uniprot/O43716" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O43716", "url": "https://www.uniprot.org/uniprot/O43716" } ], "pmid": "" }, { "name": "glutamyl-tRNA(Gln) amidotransferase complex", "id": "GO:0030956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030956", "evidence": [ { "database": "UniProtKB", "id": "O43716", "url": "https://www.uniprot.org/uniprot/O43716" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 121, "end_pos": 123, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "17521", "name": "", "equation": "ATP + H2O + L-glutamine + L-glutamyl-tRNA(Gln) = ADP + H(+) + L-glutamate + L-glutaminyl-tRNA(Gln) + phosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "D3ZY68-1", "Q5FWT5-1", "A0A8I6AHE4-1", "O75879-1", "O43716-1", "Q9H0R6-1", "Q8CBY0-1", "Q99JT1-1", "Q9CZN8-1", "P33893-1", "Q03557-1", "P53260-1", "Q54L63-1", "Q54PU2-1", "Q55ER8-1", "Q86BL4-1", "Q9VE09-1", "Q9VCD0-1" ], "evidence": [ { "id": "17521", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/17521" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "A0A8I6AHE4", "gene_name": "Gatb", "activity": [ { "ec_number": "6.3.5.-", "activity": "", "evidence": [ { "id": "A0A8I6AHE4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I6AHE4" } ] } ] }, { "uniprot_ac": "D3ZY68", "gene_name": "Gatc", "activity": [ { "ec_number": "6.3.5.-", "activity": "", "evidence": [ { "id": "D3ZY68", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZY68" } ] } ] }, { "uniprot_ac": "O43716", "gene_name": "GATC", "activity": [ { "ec_number": "6.3.5.-", "activity": "", "evidence": [ { "id": "O43716", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43716" } ] } ] }, { "uniprot_ac": "O75879", "gene_name": "GATB", "activity": [ { "ec_number": "6.3.5.-", "activity": "", "evidence": [ { "id": "O75879", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75879" } ] } ] }, { "uniprot_ac": "P33893", "gene_name": "PET112", "activity": [ { "ec_number": "6.3.5.-", "activity": "", "evidence": [ { "id": "P33893", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P33893" } ] } ] }, { "uniprot_ac": "P53260", "gene_name": "GTF1", "activity": [ { "ec_number": "6.3.5.-", "activity": "", "evidence": [ { "id": "P53260", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53260" } ] } ] }, { "uniprot_ac": "Q03557", "gene_name": "HER2", "activity": [ { "ec_number": "6.3.5.7", "activity": "ATP + H2O + L-glutamine + L-glutamyl-tRNA(Gln) = ADP + H(+) + L-glutamate + L-glutaminyl-tRNA(Gln) + phosphate.", "evidence": [ { "id": "Q03557", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q03557" } ] }, { "ec_number": "6.3.5.7", "activity": "", "evidence": [ { "id": "Q03557", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q03557" } ] } ] }, { "uniprot_ac": "Q54L63", "gene_name": "gatA", "activity": [ { "ec_number": "6.3.5.7", "activity": "ATP + H2O + L-glutamine + L-glutamyl-tRNA(Gln) = ADP + H(+) + L-glutamate + L-glutaminyl-tRNA(Gln) + phosphate.", "evidence": [ { "id": "Q54L63", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54L63" } ] }, { "ec_number": "6.3.5.7", "activity": "", "evidence": [ { "id": "Q54L63", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54L63" } ] } ] }, { "uniprot_ac": "Q54PU2", "gene_name": "gatc", "activity": [ { "ec_number": "6.3.5.-", "activity": "", "evidence": [ { "id": "Q54PU2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54PU2" } ] } ] }, { "uniprot_ac": "Q55ER8", "gene_name": "", "activity": [ { "ec_number": "6.3.5.-", "activity": "", "evidence": [ { "id": "Q55ER8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q55ER8" } ] } ] }, { "uniprot_ac": "Q5FWT5", "gene_name": "Qrsl1", "activity": [ { "ec_number": "6.3.5.7", "activity": "ATP + H2O + L-glutamine + L-glutamyl-tRNA(Gln) = ADP + H(+) + L-glutamate + L-glutaminyl-tRNA(Gln) + phosphate.", "evidence": [ { "id": "Q5FWT5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5FWT5" } ] }, { "ec_number": "6.3.5.7", "activity": "", "evidence": [ { "id": "Q5FWT5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5FWT5" } ] } ] }, { "uniprot_ac": "Q86BL4", "gene_name": "GatC", "activity": [ { "ec_number": "6.3.5.-", "activity": "", "evidence": [ { "id": "Q86BL4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86BL4" } ] } ] }, { "uniprot_ac": "Q8CBY0", "gene_name": "Gatc", "activity": [ { "ec_number": "6.3.5.-", "activity": "", "evidence": [ { "id": "Q8CBY0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8CBY0" } ] } ] }, { "uniprot_ac": "Q99JT1", "gene_name": "Gatb", "activity": [ { "ec_number": "6.3.5.-", "activity": "", "evidence": [ { "id": "Q99JT1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99JT1" } ] } ] }, { "uniprot_ac": "Q9CZN8", "gene_name": "Qrsl1", "activity": [ { "ec_number": "6.3.5.7", "activity": "ATP + H2O + L-glutamine + L-glutamyl-tRNA(Gln) = ADP + H(+) + L-glutamate + L-glutaminyl-tRNA(Gln) + phosphate.", "evidence": [ { "id": "Q9CZN8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9CZN8" } ] }, { "ec_number": "6.3.5.7", "activity": "", "evidence": [ { "id": "Q9CZN8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9CZN8" } ] } ] }, { "uniprot_ac": "Q9H0R6", "gene_name": "QRSL1", "activity": [ { "ec_number": "6.3.5.7", "activity": "ATP + H2O + L-glutamine + L-glutamyl-tRNA(Gln) = ADP + H(+) + L-glutamate + L-glutaminyl-tRNA(Gln) + phosphate.", "evidence": [ { "id": "Q9H0R6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H0R6" } ] }, { "ec_number": "6.3.5.7", "activity": "", "evidence": [ { "id": "Q9H0R6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H0R6" } ] } ] }, { "uniprot_ac": "Q9VCD0", "gene_name": "GatB", "activity": [ { "ec_number": "6.3.5.-", "activity": "", "evidence": [ { "id": "Q9VCD0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VCD0" } ] } ] }, { "uniprot_ac": "Q9VE09", "gene_name": "GatA", "activity": [ { "ec_number": "6.3.5.7", "activity": "ATP + H2O + L-glutamine + L-glutamyl-tRNA(Gln) = ADP + H(+) + L-glutamate + L-glutaminyl-tRNA(Gln) + phosphate.", "evidence": [ { "id": "Q9VE09", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VE09" } ] }, { "ec_number": "6.3.5.7", "activity": "", "evidence": [ { "id": "Q9VE09", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VE09" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 121, "end_pos": 123 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": 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}, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }