{ "uniprot_canonical_ac": "Q9NWX6-1", "uniprot_ac": "Q9NWX6", "uniprot_id": "THG1_HUMAN", "mass": { "chemical_mass": 34831.0, "monoisotopic_mass": 34831.0 }, "refseq": { "ac": "NP_001304753", "name": "probable tRNA(His) guanylyltransferase isoform 2", "summary": "The protein encoded by this gene is a mitochondrial protein that is induced by high levels of glucose and is associated with diabetic nephropathy. The encoded protein appears to increase mitochondrial biogenesis, which could lead to renal fibrosis. Another function of this protein is that of a guanyltransferase, adding GMP to the 5' end of tRNA(His). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304753" }, "gene_names": [ { "name": "THG1L", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9NWX6", "id": "Q9NWX6" }, { "name": "ICF45", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9NWX6", "id": "Q9NWX6" }, { "name": "THG1L", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304753", "id": "NP_001304753" }, { "name": "hTHG1; ICF45; IHG-1; IHG1; SCAR28; THG1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304753", "id": "NP_001304753" } ], "protein_names": [ { "name": "Probable tRNA(His) guanylyltransferase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9NWX6" }, { "name": "2.7.7.79", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9NWX6" }, { "name": "IHG-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9NWX6" }, { "name": "Induced in high glucose-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9NWX6" }, { "name": "Interphase cytoplasmic foci protein 45", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9NWX6" }, { "name": "probable tRNA(His) guanylyltransferase isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304753", "id": "NP_001304753" }, { "name": "probable tRNA(His) guanylyltransferase; interphase cytoplasmic foci protein 45; induced by high glucose-1; induced in high glucose-1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304753", "id": "NP_001304753" }, { "name": "tRNA-histidine guanylyltransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9NWX6" } ], "function": [ { "annotation": "Adds a GMP to the 5'-end of tRNA(His) after transcription and RNase P cleavage. This step is essential for proper recognition of the tRNA and for the fidelity of protein synthesis (Probable). Also functions as a guanyl-nucleotide exchange factor/GEF for the MFN1 and MFN2 mitofusins thereby regulating mitochondrial fusion (PubMed:25008184, PubMed:27307223). By regulating both mitochondrial dynamics and bioenergetic function, it contributes to cell survival following oxidative stress (PubMed:25008184, PubMed:27307223).", "evidence": [ { "database": "UniProtKB", "id": "Q9NWX6", "url": "https://www.uniprot.org/uniprot/Q9NWX6#function" }, { "database": "PubMed", "id": "25008184", "url": "https://glygen.org/publication/PubMed/25008184" }, { "database": "PubMed", "id": "27307223", "url": "https://glygen.org/publication/PubMed/27307223" }, { "database": "PubMed", "id": "21059936", "url": "https://glygen.org/publication/PubMed/21059936" } ] }, { "annotation": "Analysis of GTP addition in the reverse (3'-5') direction by human tRNA(His) guanylyltransferase.", "evidence": [ { "database": "RefSeq", "id": "NP_001304753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304753" }, { "database": "PubMed", "id": "33758037", "url": "https://glygen.org/publication/PubMed/33758037" } ] }, { "annotation": "Human Thg1 displays tRNA-inducible GTPase activity. Erratum:[Nucleic Acids Res. 2022 Nov 11;50(20):11992. PMID: 36305790]", "evidence": [ { "database": "RefSeq", "id": "NP_001304753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304753" }, { "database": "PubMed", "id": "36107775", "url": "https://glygen.org/publication/PubMed/36107775" } ] }, { "annotation": "ICF45 is a highly conserved novel protein, which is expressed in a cell cycle-dependent manner and seemed to be involved in cell cycle progression and cell proliferation", "evidence": [ { "database": "RefSeq", "id": "NP_001304753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304753" }, { "database": "PubMed", "id": "15459185", "url": "https://glygen.org/publication/PubMed/15459185" } ] }, { "annotation": "Induced in high glucose-1 (IHG-1)which increases in diabetic nephropathy, may enhance the actions of TGF-beta1 and contribute to the development of tubulointerstitial fibrosis", "evidence": [ { "database": "RefSeq", "id": "NP_001304753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304753" }, { "database": "PubMed", "id": "18508967", "url": "https://glygen.org/publication/PubMed/18508967" } ] }, { "annotation": "Severe epileptic encephalopathy associated with compound heterozygosity of THG1L variants in the Ashkenazi Jewish population.", "evidence": [ { "database": "RefSeq", "id": "NP_001304753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304753" }, { "database": "PubMed", "id": "33682303", "url": "https://glygen.org/publication/PubMed/33682303" } ] }, { "annotation": "Study proposes that homozygosity for the p.Val55Ala mutation in tRNA-histidine guanylyltransferase 1 like (THG1L) is the cause of the abnormal mitochondrial network in the patient fibroblasts, likely by interfering with THG1L activity towards MFN2.", "evidence": [ { "database": "RefSeq", "id": "NP_001304753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304753" }, { "database": "PubMed", "id": "27307223", "url": "https://glygen.org/publication/PubMed/27307223" } ] }, { "annotation": "The catalytic domain of Thg1 shares both a common architecture and a two-metal ion-dependent mechanism with canonical 5'-3' DNA polymerases.", "evidence": [ { "database": "RefSeq", "id": "NP_001304753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304753" }, { "database": "PubMed", "id": "21078997", "url": "https://glygen.org/publication/PubMed/21078997" } ] }, { "annotation": "The protein encoded by this gene is a mitochondrial protein that is induced by high levels of glucose and is associated with diabetic nephropathy. The encoded protein appears to increase mitochondrial biogenesis, which could lead to renal fibrosis. Another function of this protein is that of a guanyltransferase, adding GMP to the 5' end of tRNA(His). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_001304753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304753" } ] } ], "disease": [ { "disease_id": "DOID:0070409", "recommended_name": { "id": "DOID:0070409", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070409", "name": "autosomal recessive spinocerebellar ataxia 28", "description": "An autosomal recessive cerebellar ataxia characterized by onset in early childhood of mildly delayed motor development, gait ataxia, incoordination of fine motor movements, and dysarthria that has_material_basis_in homozygous mutation in the THG1L gene on chromosome 5q33." }, "synonyms": [ { "id": "DOID:0070409", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070409", "name": "SCAR28", "description": "" }, { "id": "MONDO:0032923", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032923", "name": "spinocerebellar ataxia, autosomal recessive 28", "description": "" }, { "id": "MONDO:0032923", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032923", "name": "SCAR28", "description": "" }, { "id": "MONDO:0032923", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032923", "name": "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28", "description": "" }, { "id": "MIM:618800", "resource": "MIM", "url": "https://www.omim.org/entry/618800", "name": "Spinocerebellar ataxia, autosomal recessive, 28", "description": "Spinocerebellar ataxia, autosomal recessive, 28" } ], "evidence": [ { "id": "618800", "database": "MIM", "url": "https://www.omim.org/entry/618800" } ] } ], "snv": [ { "evidence": [ { "id": "rs1328212469", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1328212469" }, { "id": "rs1328212469", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1328212469" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 219, "end_pos": 219, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NEI->NET).", "chr_id": "5", "chr_pos": "157737915", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I219", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200485825", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200485825" }, { "id": "rs200485825", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200485825" }, { "id": "rs200485825", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200485825" }, { "id": "rs200485825", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200485825#frequency_tab" }, { "id": "rs200485825", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200485825" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 227, "end_pos": 227, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NIN->NIS).", "chr_id": "5", "chr_pos": "157737939", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "N227", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs758288514", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758288514" }, { "id": "rs758288514", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758288514" }, { "id": "rs758288514", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758288514" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 33, "end_pos": 33, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->R).", "chr_id": "5", "chr_pos": "157731539", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S33", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763672595", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763672595" }, { "id": "rs763672595", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763672595" }, { "id": "rs763672595", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763672595#frequency_tab" }, { "id": "rs763672595", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763672595" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 44, "end_pos": 44, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DDT->NDT).", "chr_id": "5", "chr_pos": "157731570", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D44", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs973009315", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs973009315" }, { "id": "rs973009315", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs973009315#frequency_tab" }, { "id": "rs973009315", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs973009315" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 72, "end_pos": 72, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFA->NFT).", "chr_id": "5", "chr_pos": "157732890", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A72", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 104, "end_pos": 104, "sequence_org": "S", "sequence_mut": "A", "comment": "Slightly reduced enzyme activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9NWX6", "url": "https://www.uniprot.org/uniprot/Q9NWX6" }, { "database": "PubMed", "id": "21059936", "url": "https://glygen.org/publication/PubMed/21059936" } ] }, { "start_pos": 105, "end_pos": 105, "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of enzyme activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9NWX6", "url": "https://www.uniprot.org/uniprot/Q9NWX6" }, { "database": "PubMed", "id": "21059936", "url": "https://glygen.org/publication/PubMed/21059936" } ] }, { "start_pos": 106, "end_pos": 106, "sequence_org": "E", "sequence_mut": "A", "comment": "Reduces activity by 95%.", "evidence": [ { "database": "UniProtKB", "id": "Q9NWX6", "url": "https://www.uniprot.org/uniprot/Q9NWX6" }, { "database": "PubMed", "id": "21059936", "url": "https://glygen.org/publication/PubMed/21059936" } ] }, { "start_pos": 127, "end_pos": 127, "sequence_org": "T", "sequence_mut": "A", "comment": "Abolishes oligomerization. Loss of enzyme activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9NWX6", "url": "https://www.uniprot.org/uniprot/Q9NWX6" }, { "database": "PubMed", "id": "21059936", "url": "https://glygen.org/publication/PubMed/21059936" } ] }, { "start_pos": 181, "end_pos": 181, "sequence_org": "H", "sequence_mut": "A", "comment": "Loss of enzyme activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9NWX6", "url": "https://www.uniprot.org/uniprot/Q9NWX6" }, { "database": "PubMed", "id": "21059936", "url": "https://glygen.org/publication/PubMed/21059936" } ] }, { "start_pos": 216, "end_pos": 216, "sequence_org": "K", "sequence_mut": "A", "comment": "Reduces activity by 98.5%.", "evidence": [ { "database": "UniProtKB", "id": "Q9NWX6", "url": "https://www.uniprot.org/uniprot/Q9NWX6" }, { "database": "PubMed", "id": "21059936", "url": "https://glygen.org/publication/PubMed/21059936" } ] }, { "start_pos": 227, "end_pos": 227, "sequence_org": "N", "sequence_mut": "A", "comment": "Loss of enzyme activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9NWX6", "url": "https://www.uniprot.org/uniprot/Q9NWX6" }, { "database": "PubMed", "id": "21059936", "url": "https://glygen.org/publication/PubMed/21059936" } ] }, { "start_pos": 58, "end_pos": 58, "sequence_org": "D", "sequence_mut": "A", "comment": "Reduces activity by 99.5%.", "evidence": [ { "database": "UniProtKB", "id": "Q9NWX6", "url": "https://www.uniprot.org/uniprot/Q9NWX6" }, { "database": "PubMed", "id": "21059936", "url": "https://glygen.org/publication/PubMed/21059936" } ] }, { "start_pos": 63, "end_pos": 63, "sequence_org": "H", "sequence_mut": "A", "comment": "Slightly reduced enzyme activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9NWX6", "url": "https://www.uniprot.org/uniprot/Q9NWX6" }, { "database": "PubMed", "id": "21059936", "url": "https://glygen.org/publication/PubMed/21059936" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "71.14", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000113272", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000113272" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "69.41", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000113272", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000113272" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "76.87", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000113272", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000113272" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "61.93", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000113272", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000113272" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "83.13", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000113272", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000113272" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "86.07", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000113272", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000113272" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "64.71", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000113272", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000113272" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "83", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000113272", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000113272" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "78.62", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000113272", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000113272" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "60.69", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000113272", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000113272" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "75.56", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000113272", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000113272" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "78.64", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000113272", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000113272" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "77.88", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000113272", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000113272" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q9NWX6", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9NWX6" } ], "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", 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"" }, { "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": "" 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"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", 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"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", 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"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 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"id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "Q9NWX6", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9NWX6" } ], "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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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NWX6", "url": "https://www.uniprot.org/uniprot/Q9NWX6" } ], "common_name": "Human" } ], "gene": [ { "name": "THG1L", "url": "https://www.uniprot.org/uniprot/Q9NWX6", "locus": { "chromosome": "5", "start_pos": 157741449, "end_pos": 157731420, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000113272", "url": "https://www.ensembl.org/id/ENSG00000113272" } ] } } ], "crossref": [ { "id": "ENSG00000113272", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000113272", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "2.7.7.79", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=2.7.7.79&UniProtAcc=Q9NWX6", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "THG1L", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=THG1L", "database": 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"https://www.ebi.ac.uk/interpro/entry/IPR038469", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:54974", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:54974", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "618800", "url": "http://www.omim.org/entry/618800", "database": "MIM", "categories": [ "Other" ] }, { "id": "618802", "url": "http://www.omim.org/entry/618802", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_Q9NWX6", "url": "https://www.nextprot.org/entry/NX_Q9NWX6", "database": "neXtProt", "categories": [ "Organism-specific", "Protein" ] }, { "id": "Q9NWX6", "url": "https://oglcnac.org/atlas/detail/Q9NWX6", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "Q9NWX6", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NWX6", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "WKQHTEI", "url": "https://omabrowser.org/oma/group/WKQHTEI/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "239198at2759", "url": "http://www.orthodb.org/?query=239198at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR12729", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12729", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR12729:SF6", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12729:SF6", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "3OTB", "url": "https://www.rcsb.org/structure/3OTB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3OTC", "url": "https://www.rcsb.org/structure/3OTC", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3OTD", "url": "https://www.rcsb.org/structure/3OTD", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3OTE", "url": "https://www.rcsb.org/structure/3OTE", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7CV1", "url": "https://www.rcsb.org/structure/7CV1", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF04446", "url": "http://pfam.xfam.org/family/PF04446", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF14413", "url": "http://pfam.xfam.org/family/PF14413", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "Q9NWX6", "url": "https://pharos.nih.gov/targets/Q9NWX6", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_Q9NWX6", "url": "http://purl.obolibrary.org/obo/PR_Q9NWX6", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001304753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304753", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "54564", "url": "https://www.rhea-db.org/rhea/54564", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "E5RIQ8", "url": "https://www.uniprot.org/uniprot/E5RIQ8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RIQ8-1", "url": "https://www.uniprot.org/uniprot/E5RIQ8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YC78", "url": "https://www.uniprot.org/uniprot/H0YC78", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YC78-1", "url": "https://www.uniprot.org/uniprot/H0YC78-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9NWX6", "url": "https://www.uniprot.org/uniprot/Q9NWX6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9NWX6-1", "url": "https://www.uniprot.org/uniprot/Q9NWX6-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MWGACKVKVHDSLATISITLRRYLRLGATMAKSKFEYVRDFEADDTCLAHCWVVVRLDGRNFHRFAEKHNFAKPNDSRALQLMTKCAQTVMEELEDIVIAYGQSDEYSFVFKRKTNWFKRRASKFMTHVASQFASSYVFYWRDYFEDQPLLYPPGFDGRVVVYPSNQTLKDYLSWRQADCHINNLYNTVFWALIQQSGLTPVQAQGRLQGTLAADKNEILFSEFNINYNNELPMYRKGTVLIWQKVDEVMTKEIKLPTEMEGKKMAVTRTRTKPVPLHCDIIGDAFWKEHPEILDEDS", "length": 298, "header": "sp|Q9NWX6-1|THG1_HUMAN Isoform 1 of Probable tRNA(His) guanylyltransferase OS=Homo sapiens OX=9606 GN=THG1L PE=1 SV=2 CANONICAL=Q9NWX6-1" }, "isoforms": [ { "isoform_ac": "E5RIQ8-1", "url": "", "sequence": { "sequence": "MWGACKVKVHDSLATISITLRRYLRLGATMAKSKFEYVRDFEADDTCLAHCWVVVRLDGRNFHRFAEKHNFAKPNDSRALQLMTKCAQTVMEELEDIVIAYGQSDEYSFVFKRKTNWFKRRARL", "length": 124, "header": "tr|E5RIQ8-1|E5RIQ8_HUMAN Computationally mapped isoform of Probable tRNA(His) guanylyltransferase OS=Homo sapiens OX=9606 GN=THG1L PE=1 SV=1 CANONICAL=Q9NWX6-1" }, "locus": { "chromosome": "5", "start_pos": 157734674, "end_pos": 157731441, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000521655.1", "url": "https://www.ensembl.org/id/ENST00000521655.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000428387.1", "url": "https://www.ensembl.org/id/ENSP00000428387.1" } ] } }, { "isoform_ac": "H0YC78-1", "url": "", "sequence": { "sequence": "XEILFSEFNINYNNELPMYRKGTVLIWQKYQGVP", "length": 34, "header": "tr|H0YC78-1|H0YC78_HUMAN Computationally mapped isoform of tRNA-histidine guanylyltransferase 1 like OS=Homo sapiens OX=9606 GN=THG1L PE=1 SV=1 CANONICAL=Q9NWX6-1" }, "locus": { "chromosome": "5", "start_pos": 157738638, "end_pos": 157737910, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000523575.1", "url": "https://www.ensembl.org/id/ENST00000523575.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000431090.1", "url": "https://www.ensembl.org/id/ENSP00000431090.1" } ] } }, { "isoform_ac": "Q9NWX6-1", "url": "", "sequence": { "sequence": "MWGACKVKVHDSLATISITLRRYLRLGATMAKSKFEYVRDFEADDTCLAHCWVVVRLDGRNFHRFAEKHNFAKPNDSRALQLMTKCAQTVMEELEDIVIAYGQSDEYSFVFKRKTNWFKRRASKFMTHVASQFASSYVFYWRDYFEDQPLLYPPGFDGRVVVYPSNQTLKDYLSWRQADCHINNLYNTVFWALIQQSGLTPVQAQGRLQGTLAADKNEILFSEFNINYNNELPMYRKGTVLIWQKVDEVMTKEIKLPTEMEGKKMAVTRTRTKPVPLHCDIIGDAFWKEHPEILDEDS", "length": 298, "header": "sp|Q9NWX6-1|THG1_HUMAN Isoform 1 of Probable tRNA(His) guanylyltransferase OS=Homo sapiens OX=9606 GN=THG1L PE=1 SV=2 CANONICAL=Q9NWX6-1" }, "locus": { "chromosome": "5", "start_pos": 157739479, "end_pos": 157731441, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000231198.12", "url": "https://www.ensembl.org/id/ENST00000231198.12" }, { "database": "Ensembl Peptide", "id": "ENSP00000231198.7", "url": "https://www.ensembl.org/id/ENSP00000231198.7" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 33, "start_aa": "Ser", "end_pos": 33, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser33", "evidence": [ { "id": "Q9NWX6", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NWX6" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "Q9NWX6", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9NWX6" } ] } ], "phosphorylation": [ { "start_pos": 222, "end_pos": 222, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9NWX6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NWX6" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser222" }, { "start_pos": 228, "end_pos": 228, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9NWX6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NWX6" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Tyr228" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Identification and characterization of a human tRNA-specific adenosine deaminase related to the ADAR family of pre-mRNA editing enzymes.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Maas S, Gerber AP, Rich A", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "10430867", "url": "https://glygen.org/publication/PubMed/10430867" } ] }, { "title": "The human tRNA(m(2)(2)G(26))dimethyltransferase: functional expression and characterization of a cloned hTRM1 gene.", "journal": "Nucleic acids research", "date": "2000", "authors": "Liu J, Straby KB", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "10982862", "url": "https://glygen.org/publication/PubMed/10982862" } ] }, { "title": "Pseudouridine synthase 3 from mouse modifies the anticodon loop of tRNA.", "journal": "Biochemistry", "date": "2000", "authors": "Chen J, Patton JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "11027153", "url": "https://glygen.org/publication/PubMed/11027153" } ] }, { "title": "Cloning of a human tRNA isopentenyl transferase.", "journal": "Gene", "date": "2000", "authors": "Golovko A, Hjalm G, Sitbon F, Nicander B", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "11111046", "url": "https://glygen.org/publication/PubMed/11111046" } ] }, { "title": "Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.", "journal": "Genome Res.", "date": "2001", "authors": "Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Bocher M, Blocker H, Bauersachs S, Blum H, Lauber J, Dusterhoft A, Beyer A, Kohrer K, Strack N, Mewes HW, Ottenwalder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A", "evidence": [ { "database": "UniProtKB", "id": "Q9NWX6", "url": "https://www.uniprot.org/uniprot/Q9NWX6" } ], "reference": [ { "type": "PubMed", "id": "11230166", "url": "https://glygen.org/publication/PubMed/11230166" } ] }, { "title": "Two proteins that form a complex are required for 7-methylguanosine modification of yeast tRNA.", "journal": "RNA (New York, N.Y.)", "date": "2002", "authors": "Alexandrov A, Martzen MR, Phizicky EM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "12403464", "url": "https://glygen.org/publication/PubMed/12403464" } ] }, { "title": "Identification and characterization of a novel cytoplasm protein ICF45 that is involved in cell cycle regulation.", "journal": "J. Biol. Chem.", "date": "2004", "authors": "Guo D, Hu K, Lei Y, Wang Y, Ma T, He D", "evidence": [ { "database": "UniProtKB", "id": "Q9NWX6", "url": "https://www.uniprot.org/uniprot/Q9NWX6" }, { "database": "RefSeq", "id": "NP_001304753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304753" } ], "reference": [ { "type": "PubMed", "id": "15459185", "url": "https://glygen.org/publication/PubMed/15459185" } ] }, { "title": "The tRNA methylase METTL1 is phosphorylated and inactivated by PKB and RSK in vitro and in cells.", "journal": "The EMBO journal", "date": "2005", "authors": "Cartlidge RA, Knebel A, Peggie M, Alexandrov A, Phizicky EM, Cohen P", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "15861136", "url": "https://glygen.org/publication/PubMed/15861136" } ] }, { "title": "Identification and functional characterization of the candidate tumor suppressor gene TRIT1 in human lung cancer.", "journal": "Oncogene", "date": "2005", "authors": "Spinola M, Galvan A, Pignatiello C, Conti B, Pastorino U, Nicander B, Paroni R, Dragani TA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "15870694", "url": "https://glygen.org/publication/PubMed/15870694" } ] }, { "title": "A novel human tRNA-dihydrouridine synthase involved in pulmonary carcinogenesis.", "journal": "Cancer research", "date": "2005", "authors": "Kato T, Daigo Y, Hayama S, Ishikawa N, Yamabuki T, Ito T, Miyamoto M, Kondo S, Nakamura Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "15994936", "url": "https://glygen.org/publication/PubMed/15994936" } ] }, { "title": "The bipartite structure of the tRNA m1A58 methyltransferase from S. cerevisiae is conserved in humans.", "journal": "RNA (New York, N.Y.)", "date": "2005", "authors": "Ozanick S, Krecic A, Andersland J, Anderson JT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "16043508", "url": "https://glygen.org/publication/PubMed/16043508" } ] }, { "title": "Methylation of tRNAAsp by the DNA methyltransferase homolog Dnmt2.", "journal": "Science (New York, N.Y.)", "date": "2006", "authors": "Goll MG, Kirpekar F, Maggert KA, Yoder JA, Hsieh CL, Zhang X, Golic KG, Jacobsen SE, Bestor TH", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "16424344", "url": "https://glygen.org/publication/PubMed/16424344" } ] }, { "title": "Identification of human tRNA:m5C methyltransferase catalysing intron-dependent m5C formation in 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Part A", "date": "2021", "authors": "Rabin R, Hirsch Y, Johansson MM, Ekstein J, Ekstein A, Pappas J", "evidence": [ { "database": "RefSeq", "id": "NP_001304753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304753" } ], "reference": [ { "type": "PubMed", "id": "33682303", "url": "https://glygen.org/publication/PubMed/33682303" } ] }, { "title": "Analysis of GTP addition in the reverse (3'-5') direction by human tRNA(His) guanylyltransferase.", "journal": "RNA (New York, N.Y.)", "date": "2021", "authors": "Nakamura A, Wang D, Komatsu Y", "evidence": [ { "database": "RefSeq", "id": "NP_001304753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304753" } ], "reference": [ { "type": "PubMed", "id": "33758037", "url": "https://glygen.org/publication/PubMed/33758037" } ] }, { "title": "Human Thg1 displays tRNA-inducible GTPase activity.", "journal": "Nucleic acids research", "date": "2022-09-23", "authors": "Antika Titi Rindi, Nazilah Kun Rohmatan, Lee Yi-Hsueh, Lo Ya-Ting, Yeh Chung-Shu, Yeh Fu-Lung, Chang Tien-Hsien, Wang Tzu-Ling, Wang Chien-Chia", "evidence": [ { "database": "RefSeq", "id": "NP_001304753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304753" } ], "reference": [ { "type": "PubMed", "id": "36107775", "url": "https://glygen.org/publication/PubMed/36107775" } ] }, { "title": "Characterization of yeast protein Deg1 as pseudouridine synthase (Pus3) catalyzing the formation of psi 38 and psi 39 in tRNA anticodon loop.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Lecointe F, Simos G, Sauer A, Hurt EC, Motorin Y, Grosjean H", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "9430663", "url": "https://glygen.org/publication/PubMed/9430663" } ] }, { "title": "The essential Gcd10p-Gcd14p nuclear complex is required for 1-methyladenosine modification and maturation of initiator methionyl-tRNA.", "journal": "Genes & development", "date": "1998", "authors": "Anderson J, Phan L, Cuesta R, Carlson BA, Pak M, Asano K, Bjork GR, Tamame M, Hinnebusch AG", "evidence": [ { "database": "Reactome", "id": "R-HSA-6782315", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315" } ], "reference": [ { "type": "PubMed", "id": "9851972", "url": "https://glygen.org/publication/PubMed/9851972" } ] } ], "pathway": [ { "id": "hsa:54974", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:54974", "resource": "KEGG Pathway" }, { "id": "R-HSA-6782315", "name": "tRNA modification in the nucleus and cytosol", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782315", "resource": "Reactome", "description": "tRNA modification in the nucleus and cytosol" } ], "orthologs": [ { "uniprot_canonical_ac": "P53215-1", "protein_name": "tRNA(His) guanylyltransferase", "gene_name": "THG1", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MANSKFGYVRQFETHDVILPQCYIVVRIDGKKFHEFSKFYEFAKPNDENALKLMNACAKNLVLKYKNDIILAFGESDEYSFILKSSTTLFNRRKDKLATLFGSFFTSNYVALWAKFFPEKPLNIKHLPYFDSRCVAYPNLQTIKDYLSWRYVDTHINNLYNTTFWQLIIKCGLTPQESEKKLCGTFSNEKQEILFSECGINYNNEPEMFKKGSLVTRKGEILHINVIAQIDELFEGY", "length": 237 }, "evidence": [ { "id": "Q9NWX6", "url": "https://omabrowser.org/oma/group/Q9NWX6/", "database": "OMA" } ], "common_name": "Yeast" }, { "uniprot_canonical_ac": "Q5M965-1", "protein_name": "Probable tRNA(His) guanylyltransferase", "gene_name": "Thg1l", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MWAFSTARIGSPLAATSVTLRRCLRLGVAMAKSKFEYVRDFEVDDTCLPHCWVVVRLDGRNFHRFAEKHNFAKPNDSRALHLMTKCAQTVMQELEDIVIAYGQSDEYSFVFRKRSNWFKRRASKFMTLVASQFASSYVFYWRDYFEDQPLLYPPGFDGRVVLYPSNQTLKDYLSWRQADCHINNLYNTVFWALIQQSGLTPVQAQQRLKGTLTADKNEILFSEFHINYNNEPHMYRKGTVLVWQKVNEVRTQEIRLPAEMEGEKMAVTRTRTKLVALNCDLIGDAFWKEHPEILEGED", "length": 298 }, "evidence": [ { "id": "45235259", "url": "http://www.informatics.jax.org/homology/45235259", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9CY52-1", "protein_name": "Probable tRNA(His) guanylyltransferase", "gene_name": "Thg1l", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MWAFRTARIGSLLAATSVILRRCLRLGVAMAKSKFEYVRNFEVQDTCLPHCWVVVRLDGRNFHRFAEEHNFAKPNDSRALHLMTKCAQTVMEELEDIVIAYGQSDEYSFVFRKKSNWFKRRASKFMTLVASQFASSYVFYWRDYFEDQPLRYPPGFDGRVVLYPSNQTLKDYLSWRQADCHINNLYNTVFWALIQQSGLTPVQAQQRLKGTLTADKNEILFSEFHINYNNEPHMYRKGTVLVWQKVEEVRTQEVRLPAEMEGEKKAVARTRTRVVALNCDLIGDAFWKEHPEILAEEN", "length": 298 }, "evidence": [ { "id": "45235259", "url": "http://www.informatics.jax.org/homology/45235259", "database": "MGI" }, { "id": "Q9NWX6", "url": "https://omabrowser.org/oma/group/Q9NWX6/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9V3N8-1", "protein_name": "Probable tRNA(His) guanylyltransferase", "gene_name": "THG", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MACSRFEYVKSFEQDDSILPNVWIVIRIDGKKFHKFSKTHDFEKPNDENALNVMNAAATAVMQEFRDIVLAYGQSDEYSFVFRKETAAFKRRSAKLLTYVTSLFSSSYVMQWSKWMNLPLAYAPCFDGRVVLYPSEQNLKDYLSWRQADVHVNNLYNTAFWKLVLEKGLTNQQAEAKLRGTFSADKNELLFQEFGINYNNLPAMYRKGTILLRKRVILGEKSRQAVVPLHEDLISSQFWKEHTEILGKYVPGTYDAPQTFPRLVEMQINGKDDNEAEEPQNLAGTS", "length": 286 }, "evidence": [ { "id": "Q9NWX6", "url": "https://omabrowser.org/oma/group/Q9NWX6/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 8, "go_terms": [ { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "Q9NWX6", "url": "https://www.uniprot.org/uniprot/Q9NWX6" } ], "pmid": "" }, { "name": "tRNA guanylyltransferase activity", "id": "GO:0008193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008193", "evidence": [ { "database": "UniProtKB", "id": "Q9NWX6", "url": "https://www.uniprot.org/uniprot/Q9NWX6" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9NWX6", "url": "https://www.uniprot.org/uniprot/Q9NWX6" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q9NWX6", "url": "https://www.uniprot.org/uniprot/Q9NWX6" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9NWX6", "url": "https://www.uniprot.org/uniprot/Q9NWX6" } ], "pmid": "" }, { "name": "tRNA binding", "id": "GO:0000049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000049", "evidence": [ { "database": "UniProtKB", "id": "Q9NWX6", "url": "https://www.uniprot.org/uniprot/Q9NWX6" } ], "pmid": "" }, { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "Q9NWX6", "url": "https://www.uniprot.org/uniprot/Q9NWX6" } ], "pmid": "" }, { "name": "nucleotidyltransferase activity", "id": "GO:0016779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016779", "evidence": [ { "database": "UniProtKB", "id": "Q9NWX6", "url": "https://www.uniprot.org/uniprot/Q9NWX6" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 6, "go_terms": [ { "name": "tRNA modification", "id": "GO:0006400", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006400", "evidence": [ { "database": "UniProtKB", "id": "Q9NWX6", "url": "https://www.uniprot.org/uniprot/Q9NWX6" } ], "pmid": "" }, { "name": "stress-induced mitochondrial fusion", "id": "GO:1990046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990046", "evidence": [ { "database": "UniProtKB", "id": "Q9NWX6", "url": "https://www.uniprot.org/uniprot/Q9NWX6" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "Q9NWX6", "url": "https://www.uniprot.org/uniprot/Q9NWX6" } ], "pmid": "" }, { "name": "tRNA processing", "id": "GO:0008033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008033", "evidence": [ { "database": "UniProtKB", "id": "Q9NWX6", "url": "https://www.uniprot.org/uniprot/Q9NWX6" } ], "pmid": "" }, { "name": "protein homotetramerization", "id": "GO:0051289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051289", "evidence": [ { "database": "UniProtKB", "id": "Q9NWX6", "url": "https://www.uniprot.org/uniprot/Q9NWX6" } ], "pmid": "" }, { "name": "mitochondrial fusion", "id": "GO:0008053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008053", "evidence": [ { "database": "UniProtKB", "id": "Q9NWX6", "url": "https://www.uniprot.org/uniprot/Q9NWX6" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "transferase complex", "id": "GO:1990234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990234", "evidence": [ { "database": "UniProtKB", "id": "Q9NWX6", "url": "https://www.uniprot.org/uniprot/Q9NWX6" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9NWX6", "url": "https://www.uniprot.org/uniprot/Q9NWX6" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q9NWX6", "url": "https://www.uniprot.org/uniprot/Q9NWX6" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9NWX6", "url": "https://www.uniprot.org/uniprot/Q9NWX6" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 166, "end_pos": 168, "annotation": "n_glycosylation_sequon" }, { "start_pos": 75, "end_pos": 77, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "54564", "name": "", "equation": "a 5'-end ribonucleotide-tRNA(His) + ATP + GTP + H2O = a 5'-end phospho-guanosine-ribonucleotide-tRNA(His) + AMP + 2 diphosphate + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5M965-1", "Q9NWX6-1", "Q9CY52-1", "P53215-1", "Q54E29-1", "Q9V3N8-1" ], "evidence": [ { "id": "54564", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/54564" } ] }, { "id": "R-HSA-6782434", "name": "THG1L transfers GMP to 5' end of tRNA(His)", "equation": "", "summary": "THG1L (THG1) adds a guanosine triphosphate residue to the 5' end of tRNA(His), a 3'-5' addition that contrasts with the usual 5'-3' directionality of nucleotide polymerases (Hyde et al. 2010).", "cellular_location": "cytosol", "input_participant_list": [ "R-HSA-379758" ], "output_participant_list": [ "R-HSA-6782455" ], "enzyme_list": [ "Q9NWX6-1" ], "evidence": [ { "id": "R-HSA-6782434", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6782434" } ] } ], "reaction_participants": [ { "participant_id": "R-HSA-379758", "participant_name": "tRNA(His) [cytosol]", "crossref": [ { "id": "29178", "database": "ChEBI", "url": "" } ] }, { "participant_id": "R-HSA-6782455", "participant_name": "5'-pppG-p-tRNA(His) [cytosol]", "crossref": [ { "id": "53100", "database": "ChEBI", "url": "" }, { "id": "29178", "database": "ChEBI", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "P53215", "gene_name": "THG1", "activity": [ { "ec_number": "2.7.7.79", "activity": "a 5'-end ribonucleotide-tRNA(His) + ATP + GTP + H2O = a 5'-end phospho-guanosine-ribonucleotide-tRNA(His) + AMP + 2 diphosphate + H(+).", "evidence": [ { "id": "P53215", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53215" } ] }, { "ec_number": "2.7.7.79", "activity": "", "evidence": [ { "id": "P53215", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53215" } ] } ] }, { "uniprot_ac": "Q54E29", "gene_name": "thg1", "activity": [ { "ec_number": "2.7.7.79", "activity": "a 5'-end ribonucleotide-tRNA(His) + ATP + GTP + H2O = a 5'-end phospho-guanosine-ribonucleotide-tRNA(His) + AMP + 2 diphosphate + H(+).", "evidence": [ { "id": "Q54E29", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54E29" } ] }, { "ec_number": "2.7.7.79", "activity": "", "evidence": [ { "id": "Q54E29", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54E29" } ] } ] }, { "uniprot_ac": "Q5M965", "gene_name": "Thg1l", "activity": [ { "ec_number": "2.7.7.79", "activity": "a 5'-end ribonucleotide-tRNA(His) + ATP + GTP + H2O = a 5'-end phospho-guanosine-ribonucleotide-tRNA(His) + AMP + 2 diphosphate + H(+).", 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