{ "uniprot_canonical_ac": "O00411-1", "uniprot_ac": "O00411", "uniprot_id": "RPOM_HUMAN", "mass": { "chemical_mass": 138620.0, "monoisotopic_mass": 138620.0 }, "refseq": { "ac": "NP_005026", "name": "DNA-directed RNA polymerase, mitochondrial isoform 5 precursor", "summary": "This gene encodes a mitochondrial DNA-directed RNA polymerase. The gene product is responsible for mitochondrial gene expression as well as for providing RNA primers for initiation of replication of the mitochondrial genome. Although this polypeptide has the same function as the three nuclear DNA-directed RNA polymerases, it is more closely related to RNA polymerases of phage and mitochondrial polymerases of lower eukaryotes. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005026" }, "gene_names": [ { "name": "POLRMT", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00411", "id": "O00411" }, { "name": "APOLMT; COXPD55; h-mtRPOL; MTRNAP; MTRPOL", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005026", "id": "NP_005026" }, { "name": "POLRMT", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005026", "id": "NP_005026" } ], "protein_names": [ { "name": "DNA-directed RNA polymerase, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00411" }, { "name": "2.7.7.6", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00411" }, { "name": "DNA-directed RNA polymerase, mitochondrial isoform 5 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005026", "id": "NP_005026" }, { "name": "MtRPOL", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00411" }, { "name": "polymerase (RNA) mitochondrial (DNA directed)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005026", "id": "NP_005026" } ], "function": [ { "annotation": "DNA-dependent RNA polymerase catalyzes the transcription of mitochondrial DNA into RNA using the four ribonucleoside triphosphates as substrates (PubMed:21278163, PubMed:33602924). Component of the mitochondrial transcription initiation complex, composed at least of TFB2M, TFAM and POLRMT that is required for basal transcription of mitochondrial DNA (PubMed:29149603). In this complex, TFAM recruits POLRMT to a specific promoter whereas TFB2M induces structural changes in POLRMT to enable promoter opening and trapping of the DNA non-template strand (PubMed:29149603). Has DNA primase activity (PubMed:18685103, PubMed:33602924). Catalyzes the synthesis of short RNA primers that are necessary for the initiation of lagging-strand DNA synthesis from the origin of light-strand DNA replication (OriL) (PubMed:18685103, PubMed:33602924).", "evidence": [ { "database": "UniProtKB", "id": "O00411", "url": "https://www.uniprot.org/uniprot/O00411#function" }, { "database": "PubMed", "id": "21278163", "url": "https://glygen.org/publication/PubMed/21278163" }, { "database": "PubMed", "id": "29149603", "url": "https://glygen.org/publication/PubMed/29149603" }, { "database": "PubMed", "id": "18685103", "url": "https://glygen.org/publication/PubMed/18685103" }, { "database": "PubMed", "id": "33602924", "url": "https://glygen.org/publication/PubMed/33602924" } ] }, { "annotation": "Human mitochondrial DNA polymerase has a role in autosomal dominant progressive external ophthalmoplegia", "evidence": [ { "database": "RefSeq", "id": "NP_005026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005026" }, { "database": "PubMed", "id": "15258572", "url": "https://glygen.org/publication/PubMed/15258572" } ] }, { "annotation": "POLRMT mutations impair mitochondrial transcription causing neurological disease. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005026" }, { "database": "PubMed", "id": "33602924", "url": "https://glygen.org/publication/PubMed/33602924" } ] }, { "annotation": "POLRMT recognizes promoter elements in a sequence specific manner; TFAM induces a structural change of the promoter that is required for POLRMT-dependent promoter recognition", "evidence": [ { "database": "RefSeq", "id": "NP_005026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005026" }, { "database": "PubMed", "id": "15526033", "url": "https://glygen.org/publication/PubMed/15526033" } ] }, { "annotation": "TFB2M and POLRMT are essential for mammalian mitochondrial DNA replication.", "evidence": [ { "database": "RefSeq", "id": "NP_005026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005026" }, { "database": "PubMed", "id": "34744028", "url": "https://glygen.org/publication/PubMed/34744028" } ] }, { "annotation": "The requirement of mitochondrial RNA polymerase for non-small cell lung cancer cell growth. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005026" }, { "database": "PubMed", "id": "34326320", "url": "https://glygen.org/publication/PubMed/34326320" } ] }, { "annotation": "This gene encodes a mitochondrial DNA-directed RNA polymerase. The gene product is responsible for mitochondrial gene expression as well as for providing RNA primers for initiation of replication of the mitochondrial genome. Although this polypeptide has the same function as the three nuclear DNA-directed RNA polymerases, it is more closely related to RNA polymerases of phage and mitochondrial polymerases of lower eukaryotes. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_005026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005026" } ] } ], "disease": [ { "disease_id": "DOID:0070428", "recommended_name": { "id": "DOID:0070428", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070428", "name": "combined oxidative phosphorylation deficiency 55", "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the POLRMT gene on chromosome 19p13." }, "synonyms": [ { "id": "DOID:0070428", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070428", "name": "COXPD55", "description": "" }, { "id": "MONDO:0859228", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859228", "name": "combined oxidative phosphorylation deficiency 55", "description": "" }, { "id": "MIM:619743", "resource": "MIM", "url": "https://www.omim.org/entry/619743", "name": "Combined oxidative phosphorylation deficiency 55", "description": "Combined oxidative phosphorylation deficiency 55" } ], "evidence": [ { "id": "619743", "database": "MIM", "url": "https://www.omim.org/entry/619743" } ] } ], "snv": [ { "evidence": [ { "id": "O00411", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00411" } ], "glycoeffect": [], "start_pos": 98, "end_pos": 98, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "G", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "630069", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "D98", "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix uteri cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "84.19", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000099821", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099821" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "67.32", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000099821", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099821" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "79.02", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000099821", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099821" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000099821", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099821" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "89.93", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000099821", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099821" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "89.1", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000099821", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099821" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "63.73", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000099821", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099821" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "83.49", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000099821", "url": 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"namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "92.7", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000099821", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099821" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "90.22", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000099821", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099821" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O00411", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00411" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": 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"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", 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"database": "BioXpress", "id": "O00411", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00411" } ], "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", 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O00411", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00411" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00411" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O00411", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00411" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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"MSALCWGRGAAGLKRALRPCGRPGLPGKEGTAGGVCGPRRSSSASPQEQDQDRRKDWGHVELLEVLQARVRQLQAESVSEVVVNRVDVARLPECGSGDGSLQPPRKVQMGAKDATPVPCGRWAKILEKDKRTQQMRMQRLKAKLQMPFQSGEFKALTRRLQVEPRLLSKQMAGCLEDCTRQAPESPWEEQLARLLQEAPGKLSLDVEQAPSGQHSQAQLSGQQQRLLAFFKCCLLTDQLPLAHHLLVVHHGQRQKRKLLTLDMYNAVMLGWARQGAFKELVYVLFMVKDAGLTPDLLSYAAALQCMGRQDQDAGTIERCLEQMSQEGLKLQALFTAVLLSEEDRATVLKAVHKVKPTFSLPPQLPPPVNTSKLLRDVYAKDGRVSYPKLHLPLKTLQCLFEKQLHMELASRVCVVSVEKPTLPSKEVKHARKTLKTLRDQWEKALCRALRETKNRLEREVYEGRFSLYPFLCLLDEREVVRMLLQVLQALPAQGESFTTLARELSARTFSRHVVQRQRVSGQVQALQNHYRKYLCLLASDAEVPEPCLPRQYWEELGAPEALREQPWPLPVQMELGKLLAEMLVQATQMPCSLDKPHRSSRLVPVLYHVYSFRNVQQIGILKPHPAYVQLLEKAAEPTLTFEAVDVPMLCPPLPWTSPHSGAFLLSPTKLMRTVEGATQHQELLETCPPTALHGALDALTQLGNCAWRVNGRVLDLVLQLFQAKGCPQLGVPAPPSEAPQPPEAHLPHSAAPARKAELRRELAHCQKVAREMHSLRAEALYRLSLAQHLRDRVFWLPHNMDFRGRTYPCPPHFNHLGSDVARALLEFAQGRPLGPHGLDWLKIHLVNLTGLKKREPLRKRLAFAEEVMDDILDSADQPLTGRKWWMGAEEPWQTLACCMEVANAVRASDPAAYVSHLPVHQDGSCNGLQHYAALGRDSVGAASVNLEPSDVPQDVYSGVAAQVEVFRRQDAQRGMRVAQVLEGFITRKVVKQTVMTVVYGVTRYGGRLQIEKRLRELSDFPQEFVWEASHYLVRQVFKSLQEMFSGTRAIQHWLTESARLISHMGSVVEWVTPLGVPVIQPYRLDSKVKQIGGGIQSITYTHNGDISRKPNTRKQKNGFPPNFIHSLDSSHMMLTALHCYRKGLTFVSVHDCYWTHAADVSVMNQVCREQFVRLHSEPILQDLSRFLVKRFCSEPQKILEASQLKETLQAVPKPGAFDLEQVKRSTYFFS", "length": 1230, "header": "sp|O00411-1|RPOM_HUMAN Isoform 1 of DNA-directed RNA polymerase, mitochondrial OS=Homo sapiens OX=9606 GN=POLRMT PE=1 SV=2 CANONICAL=O00411-1" }, "locus": { "chromosome": "19", "start_pos": 633512, "end_pos": 617277, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000588649.7", "url": "https://www.ensembl.org/id/ENST00000588649.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000465759.2", "url": "https://www.ensembl.org/id/ENSP00000465759.2" } ] } }, { "isoform_ac": "R4GN79-1", "url": "", "sequence": { "sequence": "MSALCWGRGAAGLKRALRPCGRPGLPGKEGNTKGDGQAARGPRRGLLPARPGPLAL", "length": 56, "header": "tr|R4GN79-1|R4GN79_HUMAN Computationally mapped isoform of RNA polymerase mitochondrial OS=Homo sapiens OX=9606 GN=POLRMT PE=4 SV=2 CANONICAL=O00411-1" }, "locus": {} } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 115, "end_pos": 115, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00411", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00411" }, { "database": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" } ], "site_lbl": "Thr115" }, { "start_pos": 77, "end_pos": 77, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00411", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00411" }, { "database": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" } ], "site_lbl": "Ser77" } ], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Mechanisms controlling mitochondrial biogenesis and respiration through the thermogenic coactivator PGC-1.", "journal": "Cell", "date": "1999", "authors": "Wu Z, Puigserver P, Andersson U, Zhang C, Adelmant G, Mootha V, Troy A, Cinti S, Lowell B, Scarpulla RC, Spiegelman BM", "evidence": [ { "database": "Reactome", "id": "R-HSA-2151201", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2151201" } ], "reference": [ { "type": "PubMed", "id": "10412986", "url": "https://glygen.org/publication/PubMed/10412986" } ] }, { "title": "Cloning and mRNA tissue distribution of human PPARgamma coactivator-1.", "journal": "International journal of obesity and related metabolic disorders : journal of the International Association for the Study of Obesity", "date": "1999", "authors": "Larrouy D, Vidal H, Andreelli F, Laville M, Langin D", "evidence": [ { "database": "Reactome", "id": "R-HSA-2151201", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2151201" } ], "reference": [ { "type": "PubMed", "id": "10643692", "url": "https://glygen.org/publication/PubMed/10643692" } ] }, { "title": "A tissue-specific coactivator of steroid receptors, identified in a functional genetic screen.", "journal": "Molecular and cellular biology", "date": "2000", "authors": "Knutti D, Kaul A, Kralli A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2151201", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2151201" } ], "reference": [ { "type": "PubMed", "id": "10713165", "url": "https://glygen.org/publication/PubMed/10713165" } ] }, { "title": "Pgc-1-related coactivator, a novel, serum-inducible coactivator of nuclear respiratory factor 1-dependent transcription in mammalian cells.", "journal": "Molecular and cellular biology", "date": "2001", "authors": "Andersson U, Scarpulla RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-2151201", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2151201" } ], "reference": [ { "type": "PubMed", "id": "11340167", "url": "https://glygen.org/publication/PubMed/11340167" } ] }, { "title": "A human mitochondrial transcription factor is related to RNA adenine methyltransferases and binds S-adenosylmethionine.", "journal": "Molecular and cellular biology", "date": "2002", "authors": "McCulloch V, Seidel-Rogol BL, Shadel GS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2151201", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2151201" } ], "reference": [ { "type": "PubMed", "id": "11809803", "url": "https://glygen.org/publication/PubMed/11809803" } ] }, { "title": "Mitochondrial transcription factors B1 and B2 activate transcription of human mtDNA.", "journal": "Nat. Genet.", "date": "2002", "authors": "Falkenberg M, Gaspari M, Rantanen A, Trifunovic A, Larsson NG, Gustafsson CM", "evidence": [ { "database": "UniProtKB", "id": "O00411", "url": "https://www.uniprot.org/uniprot/O00411" }, { "database": "Reactome", "id": "R-HSA-163282", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163282" } ], "reference": [ { "type": "PubMed", "id": "12068295", "url": "https://glygen.org/publication/PubMed/12068295" } ] }, { "title": "SIRT3, a human SIR2 homologue, is an NAD-dependent deacetylase localized to mitochondria.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "Onyango P, Celic I, McCaffery JM, Boeke JD, Feinberg AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-2151201", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2151201" } ], "reference": [ { "type": "PubMed", "id": "12374852", "url": "https://glygen.org/publication/PubMed/12374852" } ] }, { "title": "Exercise induces transient transcriptional activation of the PGC-1alpha gene in human skeletal muscle.", "journal": "The Journal of physiology", "date": "2003", "authors": "Pilegaard H, Saltin B, Neufer PD", "evidence": [ { "database": "Reactome", "id": "R-HSA-2151201", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2151201" } ], "reference": [ { "type": "PubMed", "id": "12563009", "url": "https://glygen.org/publication/PubMed/12563009" } ] }, { "title": "Understanding ATP synthesis: structure and mechanism of the F1-ATPase (Review).", "journal": "Molecular membrane biology", "date": "2003", "authors": "Leyva JA, Bianchet MA, Amzel LM", "evidence": [ { "database": "Reactome", "id": "R-HSA-2151201", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2151201" } ], "reference": [ { "type": "PubMed", "id": "12745923", "url": "https://glygen.org/publication/PubMed/12745923" } ] }, { "title": "Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia.", "journal": "Nature structural & molecular biology", "date": "2004", "authors": "Graziewicz MA, Longley MJ, Bienstock RJ, Zeviani M, Copeland WC", "evidence": [ { "database": "RefSeq", "id": "NP_005026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005026" } ], "reference": [ { "type": "PubMed", "id": "15258572", "url": "https://glygen.org/publication/PubMed/15258572" } ] }, { "title": "The mitochondrial RNA polymerase contributes critically to promoter specificity in mammalian cells.", "journal": "The EMBO journal", "date": "2004", "authors": "Gaspari M, Falkenberg M, Larsson NG, Gustafsson CM", "evidence": [ { "database": "Reactome", "id": "R-HSA-163282", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163282" }, { "database": "RefSeq", "id": "NP_005026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005026" } ], "reference": [ { "type": "PubMed", "id": "15526033", "url": "https://glygen.org/publication/PubMed/15526033" } ] }, { "title": "Control of mitochondrial transcription specificity factors (TFB1M and TFB2M) by nuclear respiratory factors (NRF-1 and NRF-2) and PGC-1 family coactivators.", "journal": "Molecular and cellular biology", "date": "2005", "authors": "Gleyzer N, Vercauteren K, Scarpulla RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-2151201", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2151201" } ], "reference": [ { "type": "PubMed", "id": "15684387", "url": "https://glygen.org/publication/PubMed/15684387" } ] }, { "title": "Evolutionarily conserved and nonconserved cellular localizations and functions of human SIRT proteins.", "journal": "Molecular biology of the cell", "date": "2005", "authors": "Michishita E, Park JY, Burneskis JM, Barrett JC, Horikawa I", "evidence": [ { "database": "Reactome", "id": "R-HSA-2151201", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2151201" } ], "reference": [ { "type": "PubMed", "id": "16079181", "url": "https://glygen.org/publication/PubMed/16079181" } ] }, { "title": "Transcription of mammalian messenger RNAs by a nuclear RNA polymerase of mitochondrial origin.", "journal": "Nature", "date": "2005", "authors": "Kravchenko JE, Rogozin IB, Koonin EV, Chumakov PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-2151201", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2151201" } ], "reference": [ { "type": "PubMed", "id": "16079853", "url": "https://glygen.org/publication/PubMed/16079853" } ] }, { "title": "Reversible lysine acetylation controls the activity of the mitochondrial enzyme acetyl-CoA synthetase 2.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Schwer B, Bunkenborg J, Verdin RO, Andersen JS, Verdin E", "evidence": [ { "database": "Reactome", "id": "R-HSA-2151201", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2151201" } ], "reference": [ { "type": "PubMed", "id": "16788062", "url": "https://glygen.org/publication/PubMed/16788062" } ] }, { "title": "Control of the ATP synthase beta subunit expression by RNA-binding proteins TIA-1, TIAR, and HuR.", "journal": "Biochemical and biophysical research communications", "date": "2006", "authors": "Izquierdo JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-2151201", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2151201" } ], "reference": [ { "type": "PubMed", "id": "16890199", "url": "https://glygen.org/publication/PubMed/16890199" } ] }, { "title": "PGC-1-related coactivator: immediate early expression and characterization of a CREB/NRF-1 binding domain associated with cytochrome c promoter occupancy and respiratory growth.", "journal": "Molecular and cellular biology", "date": "2006", "authors": "Vercauteren K, Pasko RA, Gleyzer N, Marino VM, Scarpulla RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-2151201", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2151201" } ], "reference": [ { "type": "PubMed", "id": "16908542", "url": "https://glygen.org/publication/PubMed/16908542" } ] }, { "title": "Mitochondrial preprotein translocases as dynamic molecular machines.", "journal": "FEMS yeast research", "date": "2006", "authors": "van der Laan M, Rissler M, Rehling P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2151201", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2151201" } ], "reference": [ { "type": "PubMed", "id": "16911507", "url": "https://glygen.org/publication/PubMed/16911507" } ] }, { "title": "Evidence for an early gene duplication event in the evolution of the mitochondrial transcription factor B family and maintenance of rRNA methyltransferase activity in human mtTFB1 and mtTFB2.", "journal": "Journal of molecular evolution", "date": "2006", "authors": "Cotney J, Shadel GS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2151201", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2151201" } ], "reference": [ { "type": "PubMed", "id": "17031457", "url": "https://glygen.org/publication/PubMed/17031457" } ] }, { "title": "SirT3 is a nuclear NAD+-dependent histone deacetylase that translocates to the mitochondria upon cellular stress.", "journal": "Genes & development", "date": "2007", "authors": "Scher MB, Vaquero A, Reinberg D", "evidence": [ { "database": "Reactome", "id": "R-HSA-2151201", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2151201" } ], "reference": [ { "type": "PubMed", "id": "17437997", "url": "https://glygen.org/publication/PubMed/17437997" } ] }, { "title": "Regulation of insulin secretion by SIRT4, a mitochondrial ADP-ribosyltransferase.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Ahuja N, Schwer B, Carobbio S, Waltregny D, North BJ, Castronovo V, Maechler P, Verdin E", "evidence": [ { "database": "Reactome", "id": "R-HSA-2151201", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2151201" } ], "reference": [ { "type": "PubMed", "id": "17715127", "url": "https://glygen.org/publication/PubMed/17715127" } ] }, { "title": "Mammalian Sir2 homolog SIRT3 regulates global mitochondrial lysine acetylation.", "journal": "Molecular and cellular biology", "date": "2007", "authors": "Lombard DB, Alt FW, Cheng HL, Bunkenborg J, Streeper RS, Mostoslavsky R, Kim J, Yancopoulos G, Valenzuela D, Murphy A, Yang Y, Chen Y, Hirschey MD, Bronson RT, Haigis M, Guarente LP, Farese RV Jr, Weissman S, Verdin E, Schwer B", "evidence": [ { "database": "Reactome", "id": "R-HSA-2151201", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2151201" } ], "reference": [ { "type": "PubMed", "id": "17923681", "url": "https://glygen.org/publication/PubMed/17923681" } ] }, { "title": "The human SIRT3 protein deacetylase is exclusively mitochondrial.", "journal": "The Biochemical journal", "date": "2008", "authors": "Cooper HM, Spelbrink JN", "evidence": [ { "database": "Reactome", "id": "R-HSA-2151201", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2151201" } ], "reference": [ { "type": "PubMed", "id": "18215119", "url": "https://glygen.org/publication/PubMed/18215119" } ] }, { "title": "PGC-1-related coactivator complexes with HCF-1 and NRF-2beta in mediating NRF-2(GABP)-dependent respiratory gene expression.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Vercauteren K, Gleyzer N, Scarpulla RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-2151201", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2151201" } ], "reference": [ { "type": "PubMed", "id": "18343819", "url": "https://glygen.org/publication/PubMed/18343819" } ] }, { "title": "Substrates and regulation mechanisms for the human mitochondrial sirtuins Sirt3 and Sirt5.", "journal": "Journal of molecular biology", "date": "2008", "authors": "Schlicker C, Gertz M, Papatheodorou P, Kachholz B, Becker CF, Steegborn C", "evidence": [ { "database": "Reactome", "id": "R-HSA-2151201", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2151201" } ], "reference": [ { "type": "PubMed", "id": "18680753", "url": "https://glygen.org/publication/PubMed/18680753" } ] }, { "title": "Human mitochondrial RNA polymerase primes lagging-strand DNA synthesis in vitro.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008-08-12", "authors": "Wanrooij Sjoerd, Fust\u00e9 Javier Miralles, Farge G\u00e9raldine, Shi Yonghong, Gustafsson Claes M, Falkenberg Maria", "evidence": [ { "database": "UniProtKB", "id": "O00411", "url": "https://www.uniprot.org/uniprot/O00411" } ], "reference": [ { "type": "PubMed", "id": "18685103", "url": "https://glygen.org/publication/PubMed/18685103" } ] }, { "title": "Loss of the Ca2+/calmodulin-dependent protein kinase type IV in dopaminoceptive neurons enhances behavioral effects of cocaine.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Bilbao A, Parkitna JR, Engblom D, Perreau-Lenz S, Sanchis-Segura C, Schneider M, Konopka W, Westphal M, Breen G, Desrivieres S, Klugmann M, Guindalini C, Vallada H, Laranjeira R, de Fonseca FR, Schumann G, Schutz G, Spanagel R", "evidence": [ { "database": "Reactome", "id": "R-HSA-2151201", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2151201" } ], "reference": [ { "type": "PubMed", "id": "19001277", "url": "https://glygen.org/publication/PubMed/19001277" } ] }, { "title": "Evaluation of the low-specificity protease elastase for large-scale phosphoproteome analysis.", "journal": "Analytical chemistry", "date": "2008", "authors": "Wang B, Malik R, Nigg EA, Korner R", "evidence": [ { "database": "iPTMnet", "id": "O00411", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00411" } ], "reference": [ { "type": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" } ] }, { "title": "Methylation of 12S rRNA is necessary for in vivo stability of the small subunit of the mammalian mitochondrial ribosome.", "journal": "Cell metabolism", "date": "2009", "authors": "Metodiev MD, Lesko N, Park CB, Camara Y, Shi Y, Wibom R, Hultenby K, Gustafsson CM, Larsson NG", "evidence": [ { "database": "Reactome", "id": "R-HSA-2151201", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2151201" } ], "reference": [ { "type": "PubMed", "id": "19356719", "url": "https://glygen.org/publication/PubMed/19356719" } ] }, { "title": "Elucidation of separate, but collaborative functions of the rRNA methyltransferase-related human mitochondrial transcription factors B1 and B2 in mitochondrial biogenesis reveals new insight into maternally inherited deafness.", "journal": "Human molecular genetics", "date": "2009", "authors": "Cotney J, McKay SE, Shadel GS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2151201", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2151201" } ], "reference": [ { "type": "PubMed", 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characterization.", "journal": "Genomics", "date": "1997", "authors": "Shi H, Shigeta H, Yang N, Fu K, O'Brian G, Teng CT", "evidence": [ { "database": "Reactome", "id": "R-HSA-2151201", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2151201" } ], "reference": [ { "type": "PubMed", "id": "9286700", "url": "https://glygen.org/publication/PubMed/9286700" } ] } ], "pathway": [ { "id": "hsa:5442", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5442", "resource": "KEGG Pathway" }, { "id": "R-HSA-163282", "name": "Mitochondrial transcription initiation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163282", "resource": "Reactome", "description": "Mitochondrial transcription initiation" }, { "id": "R-HSA-2151201", "name": "Transcriptional activation of mitochondrial biogenesis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2151201", "resource": "Reactome", "description": "Transcriptional activation of mitochondrial biogenesis" } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZYB6-1", "protein_name": "DNA-directed RNA polymerase", "gene_name": "Polrmt", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MSALRWTRGAAGLGRVLRSPGPHRPASEEGPLSGLGSSRRRSAASPREQAVQREWGHAELLEVLEARVRQLRAEGAPEMRVKKVQVDQPPQGRSSRWAQKLEAEKKVKQRHQAKADLQKQPLESRTLHTEPRIRSKKLAGYLHQSKKGAPKSSEEEQLARVLQAVLAKLGSREAGTPARTKAKAVETHILFLQQKLRTFFECCVCTGQLPLAHHMLVTHHNNQDKQQVLTLDMYNMVLLGWARKGSFRELVYVFIMLTDAGLSPDLHSYAAALQCMGRRDQDAHTIQRCLKQMAEEGFQPQLLFTNLVLEEEDRAALLRAVVKGEPAFCPPPQASNLVSTPVLLKDFYSKEGPVSYPKLHLPLDTLQDLFYQQLHVELSSSVSVQSVEEAPVMTKEVIEARKTLKALRSKWEVELLRVLRETKAKMGSQAYEGQPTLYPFLCLLSEGEFVSILMQALQVLPAQGEPLFQLAQNLGLQVFNRHLVKQKQVTNHVQKLGQQYSQYLRLLASDTQVAPCLPREYWDSLGSLETPAQQPWSVPVLLQLGKQLAELLVQAVQMPRSLAARHGAQNFIPVLYHVYSFRSYRQVGILKPHPAFTHLLETAAEPTLTFETTEVPMLCPPLPWTSLHSGAYLLSSTKIMRATEGTTQHQRLLERCPPAQLHGALDALTQLGNCAWRVNGRLLDLVLQIFRDKGCMRLGVPPPRSEAPRPAKHQLPPGSTPVHKSELRKELARCLKAAREMHSLRSEALYRLSLAQHLRDRVFWLPHNMDFRGRTYPCPPHFNHLGSDLARALLEFAEGRPLGPRGLDWLKIHLINLTGLRKRDSLRMRLAFADEVMGEILDSADNPLTGQKWWMKADEPWQTLACCMEVAQAVRSPDPTAYVSHLPVHQDGSCNGLQHYAALGRDSVGAASVNLTPSDLPQDVYREVATQVEELRQQDAKEGLQVAQALEGFVSRKVVKQTVMTVVYGVTRYGGRLQIEKRLRELSDFPQEFVWEASHYLVRQVFKSLQEMFSSTRAIQRWLTESANLISHAGWPVEWVTPLGIPIIQPYHRESKIQVKGGLQSITFTSSVDDSQKPNTLKQKNGFPPNFIHSLDSSHMMLTALHCYRKGLTFVSVHDCFWTHAADIPMMNEVCREQFVRLHSEPILEDLAKFLEKRFCSVSNTRSLKPSELALITKLQETLRSLPETGTFDLGQVIRSTYFFS", "length": 1205 }, "evidence": [ { "id": "O00411", "url": "https://omabrowser.org/oma/group/O00411/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q8BKF1-1", "protein_name": "DNA-directed RNA polymerase, mitochondrial", "gene_name": "Polrmt", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MSALRWTRSAAGLGRVLRSPGPHRPPSEEGTFGGFCSSRRSSAASPREQHVLREWGHAELLEVLEARVRQLRAEGTPEMRVKKVQVDRPPQGHSSRWAQKLEAEKRVKQRRQKEVDQQKQALTQEFWTLHKEPKIWNKKLAGYLQPSKKGTPTNSEEKQLAQALQAALGRLSSREAEALARKKAKAVEAQILVLQQKFLAFFECCVCTGQVPLAHHVLVTHHNNGDRQQVLTLHMYNTVMLGWARKGSFRELVYVFLMLKDAGLSPDLCSYAAALQCMGRRDQDVRTIQRCLKQMMEEGFQPQLLFTDLVLEEEDRAALLRAVVKAEPAFRPPPQAPSPVNTSTLLKDIYSKEGPVSYPKLHLPLDTLQDLFYQQLHVELSSSVCVQSVEKAPVMSKEVIEARKTLQALREQWEVELLRVLRETKATMGRQAYEGQPTLYPFLCLLSEGEFVSILMQVLKVLPAQGEPLIQLAHNLGLRVLNRHLVKQKQVTNHVQKLGQRYSQYLQLLASDTQVAPCLPREYWESLGPLEAPAQQPWSVPVLLQLGKQLAELLVQAVQMPRSLAARQGAQRSIPVLYHVYSFRSYRQVGILKPHPAFTHLLETAAEPTLTFETTEVPMLCPPLPWTSLHSGAYLLSSTKLMRATEGTTQHQRLLEQCPPAQLHGPLDALTQLGNCAWRVNGHLLDLVLQIFRDKGCMPLGVPPPRSEAPRPARYQLPPGSTPVHKSELRKELARCLKVAREMHSLRSEALYRLSLAQHLRHRVFWLPHNMDFRGRTYPCPPHFNHLGSDLARALLEFAEGRPLGPRGLDWLKIHLINLTGLKKGDSLRMRLAFADEVMEEILDSADNPLTGRKWWMEADEPWQTLACCMEVAHAVRSPDPAAYISHLPVHQDGSCNGLQHYAALGRDSVGAASVNLTPSDLPQDVYREVATQVEEFRQQDAKEGLRVAQVLEGFISRKVVKQTVMTVVYGVTRYGGRLQIEKRLRELSDFPQEFVWEASHYLVRQVFKSLQEMFTSTRAIQHWLTESANLISHAGWPVEWVTPLGIPIIQPYHRESKVQVKGGLQSITLTSSVDESQKPNTLKQKNGFPPNFIHSLDSSHMMLTALHCYRKGLIFVSVHDCFWTHAADIPTMNEVCREQFVRLHSQPILEDLAKFLKKRFCSVSSIKSLKSSERALVTKLQETLQSLPKTGTFDLGQVIRSTYFFS", "length": 1207 }, "evidence": [ { "id": "45921048", "url": "http://www.informatics.jax.org/homology/45921048", "database": "MGI" }, { "id": "O00411", "url": "https://omabrowser.org/oma/group/O00411/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9VPW4-1", "protein_name": "DNA-directed RNA polymerase", "gene_name": "PolrMT", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MYRLLSANRAAAVQKALRVPPTAHPTTTTATTTTVCCGCGIAPSNFVHYQQYYQMLYRQMPAGAITAKTTTTTTRTQTTTPTQTDAVAQAKKKRLRKPRYAKYVELLEVTEQAISERRSRVKRLKSKKLADFIHKAQQQILERRAREDRKDKKTKCVLDLAQRQPVEYQKIDMEALDGSILESGVYDDRPMLFFGKDEYTKQVIANPEEVQNILKSFQNFRDIIESMENDQHEADFGLSTTKVHPEEHEMLDPFEAIEPYISPLDKSKRSVTTVAVPNASAVTTKSKKRFKSKVHVNEEQERLAKQRALHINLNTYLNVCVSANMLNRALSTIIAYRGKVRKSSLPHMSEGLITIDLYNILLHGYAGKGSFDRAQEVFKLIEEDGLSFNEQTYAAIFECLGRLEPDEENHQYISEYVSKAEKEGFSLNQIMDRSKFVADQRDIALDAIRRLRPDFKPVYVPPQLGYDNELLDHLNEHVIPVGAKKEPGKADYAIMNSKRGYTAAQLEQLAREQLKIELDGSITIKSIEKSKEFANSEKCRELLKELEDTWRKQISAAIVRDLNTLRAQVRFKPHGFMNYYTYLKTLDASHFADILIKELYKLAEGSETFSPTVGQLYKELGQKVQQRYQIEQKKHNGTLEKIGEIYSSYCELWGSGMSQDNTRQAWQRLVYEQRESGPSMDLLEVPWPSNVLTGVGRFLYNILMRDIKIDAHIMRQKSKSKAAAQPQNLLPAFYTLFRNQGRFVKEEVKPHPVLSRLFRASRQQTLTFDSNLVPMLCPPQPWSTPHNGGYLLNKTELIRLPHQAIQQWDRIMASNPQHLYPALDSLNQLASVPWRVNTQLLDVIIKVFQNGGDVKLDVPQPPSSLPPLPTLPAKDAEGNATSSEDRAKQFRDKLGHRRKQAEMYSLWCDALYRLSLAQHYRDKVFWLPHNMDFRGRVYPVPPHLNHLGSDLARSMLIFDQAQPLGVDGLSWLKLHCINLTGLKKRDSVRERLLYAEEIMPDILDSADNPLTGRMWWSKSDEPWQTLACCMEIANVHRCPDPAAYLSRFPIHQDGSCNGLQHYAALGRDEAGARSVNLAPSAIPQDVYSAVAALVEKSRKADAQNGLHVAEALAGFVRRKVIKQTVMTTVYGVTRYGARLQIARQLKDIDDFPKDWVWPASTYLTTKTFESLREMFTSTREIQDWFTECARLISGVCSQNVEWVTPLGLPVVQPYNRQEMKHSPRSGFKVSANMPMDLYERPNILKQKNAFPPNFIHSLDSSHMMLTSLHCERQGITFVSVHDCFWTHANTVPELNRMCREQFVALHSQPILEQLSEFMRHTYSFKDSDFINDGSVEDLSKRQLNRILKQMPQKGDFDLRNVLDSVYFFS", "length": 1369 }, "evidence": [ { "id": "O00411", "url": "https://omabrowser.org/oma/group/O00411/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 7, "go_terms": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "O00411", "url": "https://www.uniprot.org/uniprot/O00411" } ], "pmid": "" }, { "name": "DNA-directed 5'-3' RNA polymerase activity", "id": "GO:0003899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003899", "evidence": [ { "database": "UniProtKB", "id": "O00411", "url": "https://www.uniprot.org/uniprot/O00411" } ], "pmid": "" }, { "name": "mitochondrial promoter sequence-specific DNA binding", "id": "GO:0001018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001018", "evidence": [ { "database": "UniProtKB", "id": "O00411", "url": "https://www.uniprot.org/uniprot/O00411" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "O00411", "url": "https://www.uniprot.org/uniprot/O00411" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "O00411", "url": "https://www.uniprot.org/uniprot/O00411" } ], "pmid": "" }, { "name": "3'-5'-RNA exonuclease activity", "id": "GO:0000175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000175", "evidence": [ { "database": "UniProtKB", "id": "O00411", "url": "https://www.uniprot.org/uniprot/O00411" } ], "pmid": "" }, { "name": "DNA primase activity", "id": "GO:0003896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003896", "evidence": [ { "database": "UniProtKB", "id": "O00411", "url": "https://www.uniprot.org/uniprot/O00411" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 6, "go_terms": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O00411", "url": "https://www.uniprot.org/uniprot/O00411" } ], "pmid": "" }, { "name": "mitochondrial DNA-directed RNA polymerase complex", "id": "GO:0034245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034245", "evidence": [ { "database": "UniProtKB", "id": "O00411", "url": "https://www.uniprot.org/uniprot/O00411" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "O00411", "url": "https://www.uniprot.org/uniprot/O00411" } ], "pmid": "" }, { "name": "mitochondrial nucleoid", "id": "GO:0042645", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042645", "evidence": [ { "database": "UniProtKB", "id": "O00411", "url": "https://www.uniprot.org/uniprot/O00411" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "O00411", "url": "https://www.uniprot.org/uniprot/O00411" } ], "pmid": "" }, { "name": "DNA-directed RNA polymerase complex", "id": "GO:0000428", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000428", "evidence": [ { "database": "UniProtKB", "id": "O00411", "url": "https://www.uniprot.org/uniprot/O00411" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "O00411", "url": "https://www.uniprot.org/uniprot/O00411" } ], "pmid": "" }, { "name": "transcription initiation at mitochondrial promoter", "id": "GO:0006391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006391", "evidence": [ { "database": "UniProtKB", "id": "O00411", "url": "https://www.uniprot.org/uniprot/O00411" } ], "pmid": "" }, { "name": "mitochondrial transcription", "id": "GO:0006390", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006390", "evidence": [ { "database": "UniProtKB", "id": "O00411", "url": "https://www.uniprot.org/uniprot/O00411" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 369, "end_pos": 371, "annotation": "n_glycosylation_sequon" }, { "start_pos": 847, "end_pos": 849, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "21248", "name": "", "equation": "a ribonucleoside 5'-triphosphate + RNA(n) = diphosphate + RNA(n+1)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O54889-1", "O54888-1", "E9PTB6-1", "D4A5A6-1", "G3V8Y5-1", "D3ZV30-1", "D3ZYB6-1", "O00411-1", "O95602-1", "P24928-1", "P30876-1", "Q9H9Y6-1", "O14802-1", "Q9NW08-1", "P08775-1", "O35134-1", "Q8CFI7-1", "Q8BKF1-1", "P70700-1", "P59470-1", "B2RXC6-1", "P13433-1", "P22276-1", "P04050-1", "P04051-1", "P08518-1", "P10964-1", "P22138-1", "Q54EH7-1", "Q54H25-1", "Q54J75-1", "Q86AQ5-1", "Q86H36-1", "P35084-1", "Q95NZ8-1", "Q54BM1-1", "Q54IZ9-1", "Q54UI6-1", "P25167-1", "P04052-1", "P08266-1", "P91875-1", "P20028-1", "Q9VPW4-1", "A8JUY3-1" ], "evidence": [ { "id": "21248", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/21248" } ] }, { "id": "R-HSA-1592243", "name": "Expression of POLRMT", "equation": "", "summary": "The POLRMT (mitochondrial RNA polymerase) gene is transcribed in the nucleus to yield mRNA and the mRNA is translated in the cytosol to yield POLRMT precursor, which is then imported into the mitochondria matrix. In the mitochondrial matrix POLRMT transcribes mitochondrial DNA.", "cellular_location": "mitochondrial matrix, nucleoplasm", "input_participant_list": [ "R-HSA-4686134" ], "output_participant_list": [ "R-HSA-163267" ], "enzyme_list": [ "O00411-1" ], "evidence": [ { "id": "R-HSA-1592243", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1592243" } ] }, { "id": "R-HSA-163296", "name": "Association of TFAM:mt promoter complex with POLRMT:TFB2M", "equation": "", "summary": "At the beginning of this reaction, 1 molecule of 'POLRMT:TFB2M complex', and 1 molecule of 'TFAM:mitochondrial promoter complex' are present. At the end of this reaction, 1 molecule of 'POLRMT:TFB2M:TFAM:mitochondrial promoter complex' is present.

This reaction takes place in the 'mitochondrial matrix'.
", "cellular_location": "mitochondrial matrix", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O00411-1", "Q9H5Q4-1" ], "evidence": [ { "id": "R-HSA-163296", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163296" } ] } ], "reaction_participants": [ { "participant_id": "R-HSA-163267", "participant_name": "POLRMT [mitochondrial matrix]", "crossref": [ { "id": "O00411", "database": "PRO", "url": "" }, { "id": "ENSG00000099821", "database": "Ensembl", "url": "" }, { "id": "NP_005026.3", "database": "RefSeq", "url": "" }, { "id": "O00411", "database": "GeneCards", "url": "" }, { "id": "25188", "database": "Orphanet", "url": "" }, { "id": "7PZP", "database": "PDB", "url": "" }, { "id": "ENSG00000099821", "database": "OpenTargets", "url": "" }, { "id": "HMDBP00742", "database": "HMDB Protein", "url": "" }, { "id": "O00411", "database": "UniProt", "url": "" }, { "id": "ENST00000588649", "database": "Ensembl", "url": "" }, { "id": "3SPA", "database": "PDB", "url": "" }, { "id": "7A8P", "database": "PDB", "url": "" }, { "id": "7ZC4", "database": "PDB", "url": "" }, { "id": "2.7.7.6", "database": "IntEnz", "url": "" }, { "id": "6ERQ", "database": "PDB", "url": "" }, { "id": "O00411", "database": "Pharos - Targets", "url": "" }, { "id": "5OLA", "database": "PDB", "url": "" }, { "id": "ENSG00000099821-POLRMT", "database": "HPA", "url": "" }, { "id": "ENSP00000465759", "database": "Ensembl", "url": "" }, { "id": "4BOC", "database": "PDB", "url": "" }, { "id": "7PZR", "database": "PDB", "url": "" }, { "id": "6ERP", "database": "PDB", "url": "" } ] }, { "participant_id": "R-HSA-4686134", "participant_name": "POLRMT gene [nucleoplasm]", "crossref": [ { "id": "ENSG00000099821", "database": "ENSEMBL", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "A8JUY3", "gene_name": "Polr3A", "activity": [ { "ec_number": "2.7.7.6", "activity": "a ribonucleoside 5'-triphosphate + RNA(n) = diphosphate + RNA(n+1).", "evidence": [ { "id": "A8JUY3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A8JUY3" } ] }, { "ec_number": "2.7.7.6", "activity": "", "evidence": [ { "id": "A8JUY3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A8JUY3" } ] } ] }, { "uniprot_ac": "B2RXC6", "gene_name": "Polr3a", "activity": [ { "ec_number": "2.7.7.6", "activity": "a ribonucleoside 5'-triphosphate + RNA(n) = diphosphate + RNA(n+1).", "evidence": [ { "id": "B2RXC6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B2RXC6" } ] }, { "ec_number": "2.7.7.6", "activity": "", "evidence": [ { "id": "B2RXC6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B2RXC6" } ] } ] }, { "uniprot_ac": "D3ZV30", "gene_name": "Polr3b", "activity": [ { "ec_number": "2.7.7.6", "activity": "a ribonucleoside 5'-triphosphate + RNA(n) = diphosphate + RNA(n+1).", "evidence": [ { "id": "D3ZV30", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZV30" } ] }, { "ec_number": "2.7.7.6", "activity": "", "evidence": [ { "id": "D3ZV30", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZV30" } ] } ] }, { "uniprot_ac": "D3ZYB6", "gene_name": "Polrmt", "activity": [ { "ec_number": "2.7.7.6", "activity": "a ribonucleoside 5'-triphosphate + RNA(n) = diphosphate + RNA(n+1).", "evidence": [ { "id": "D3ZYB6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZYB6" } ] }, { "ec_number": "2.7.7.6", "activity": "", "evidence": [ { "id": "D3ZYB6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZYB6" } ] } ] }, { "uniprot_ac": "D4A5A6", "gene_name": "Polr2a", "activity": [ { "ec_number": "2.7.7.6", "activity": "a ribonucleoside 5'-triphosphate + RNA(n) = diphosphate + RNA(n+1).", "evidence": [ { "id": "D4A5A6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D4A5A6" } ] }, { "ec_number": "2.7.7.6", "activity": "", "evidence": [ { "id": "D4A5A6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D4A5A6" } ] } ] }, { "uniprot_ac": "E9PTB6", "gene_name": "Polr3a", "activity": [ { "ec_number": "2.7.7.6", "activity": "a ribonucleoside 5'-triphosphate + RNA(n) = diphosphate + RNA(n+1).", "evidence": [ { "id": "E9PTB6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/E9PTB6" } ] }, { "ec_number": "2.7.7.6", "activity": "", "evidence": [ { "id": "E9PTB6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/E9PTB6" } ] } ] }, { "uniprot_ac": "G3V8Y5", "gene_name": "Polr2b", "activity": [ { "ec_number": "2.7.7.6", "activity": "a ribonucleoside 5'-triphosphate + RNA(n) = diphosphate + RNA(n+1).", "evidence": [ { "id": "G3V8Y5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/G3V8Y5" } ] }, { "ec_number": "2.7.7.6", "activity": "", "evidence": [ { "id": "G3V8Y5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/G3V8Y5" } ] } ] }, { "uniprot_ac": "O00411", "gene_name": "POLRMT", "activity": [ { "ec_number": "2.7.7.6", "activity": "a ribonucleoside 5'-triphosphate + RNA(n) = diphosphate + RNA(n+1).", "evidence": [ { "id": "O00411", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00411" } ] }, { "ec_number": "2.7.7.6", "activity": "", "evidence": [ { "id": "O00411", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00411" } ] } ] }, { "uniprot_ac": "O14802", "gene_name": "POLR3A", "activity": [ { "ec_number": "2.7.7.6", "activity": "a ribonucleoside 5'-triphosphate + RNA(n) = diphosphate + RNA(n+1).", "evidence": [ { "id": "O14802", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14802" } ] }, { "ec_number": "2.7.7.6", "activity": "", "evidence": [ { "id": "O14802", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14802" } ] } ] }, { "uniprot_ac": "O35134", "gene_name": "Polr1a", "activity": [ { "ec_number": "2.7.7.6", "activity": "a ribonucleoside 5'-triphosphate + RNA(n) = diphosphate + RNA(n+1).", "evidence": [ { "id": "O35134", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O35134" } ] }, { "ec_number": "2.7.7.6", "activity": "", "evidence": [ { "id": "O35134", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O35134" } ] } ] }, { "uniprot_ac": "O54888", "gene_name": "Polr1b", "activity": [ { "ec_number": "2.7.7.6", "activity": "a ribonucleoside 5'-triphosphate + RNA(n) = diphosphate + RNA(n+1).", "evidence": [ { "id": "O54888", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O54888" } ] }, { "ec_number": "2.7.7.6", "activity": "", "evidence": [ { "id": "O54888", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O54888" } ] } ] }, { "uniprot_ac": "O54889", "gene_name": "Polr1a", "activity": [ { "ec_number": "2.7.7.6", "activity": "a ribonucleoside 5'-triphosphate + RNA(n) = diphosphate + RNA(n+1).", "evidence": [ { "id": "O54889", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O54889" } ] }, { "ec_number": "2.7.7.6", "activity": "", "evidence": [ { "id": "O54889", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O54889" } ] } ] }, { "uniprot_ac": "O95602", "gene_name": "POLR1A", "activity": [ { "ec_number": "2.7.7.6", "activity": "a ribonucleoside 5'-triphosphate + RNA(n) = diphosphate + RNA(n+1).", "evidence": [ { "id": "O95602", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95602" } ] }, { "ec_number": "2.7.7.6", "activity": "", "evidence": [ { "id": "O95602", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95602" } ] } ] }, { "uniprot_ac": "P04050", "gene_name": "RPO21", "activity": [ { "ec_number": "2.7.7.6", "activity": "a ribonucleoside 5'-triphosphate + RNA(n) = diphosphate + RNA(n+1).", "evidence": [ { "id": "P04050", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04050" } ] }, { "ec_number": "2.7.7.6", "activity": "", "evidence": [ { "id": "P04050", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04050" } ] } ] }, { "uniprot_ac": "P04051", "gene_name": "RPO31", "activity": [ { "ec_number": "2.7.7.6", "activity": "a ribonucleoside 5'-triphosphate + RNA(n) = diphosphate + RNA(n+1).", "evidence": [ { "id": "P04051", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04051" } ] }, { "ec_number": "2.7.7.6", "activity": "", "evidence": [ { "id": "P04051", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04051" } ] } ] }, { "uniprot_ac": "P04052", "gene_name": "RpII215", "activity": [ { "ec_number": "2.7.7.6", "activity": "a ribonucleoside 5'-triphosphate + RNA(n) = diphosphate + RNA(n+1).", "evidence": [ { "id": "P04052", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04052" } ] }, { "ec_number": "2.7.7.6", "activity": "", "evidence": [ { "id": "P04052", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04052" } ] } ] }, { "uniprot_ac": "P08266", "gene_name": "RpII140", "activity": [ { "ec_number": "2.7.7.6", "activity": "a ribonucleoside 5'-triphosphate + RNA(n) = diphosphate + RNA(n+1).", "evidence": [ { "id": "P08266", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08266" } ] }, { "ec_number": "2.7.7.6", "activity": "", "evidence": [ { "id": "P08266", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08266" } ] } ] }, { "uniprot_ac": "P08518", "gene_name": "RPB2", "activity": [ { "ec_number": "2.7.7.6", "activity": "a ribonucleoside 5'-triphosphate + RNA(n) = diphosphate + RNA(n+1).", "evidence": [ { "id": "P08518", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08518" } ] }, { "ec_number": "2.7.7.6", "activity": "", "evidence": [ { "id": "P08518", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08518" } ] } ] }, { "uniprot_ac": "P08775", "gene_name": "Polr2a", "activity": [ { "ec_number": "2.7.7.6", "activity": "a ribonucleoside 5'-triphosphate + RNA(n) = diphosphate + RNA(n+1).", "evidence": [ { "id": "P08775", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08775" } ] }, { "ec_number": "2.7.7.6", "activity": "", "evidence": [ { "id": "P08775", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08775" } ] } ] }, { "uniprot_ac": "P10964", "gene_name": "RPA190", "activity": [ { "ec_number": "2.7.7.6", "activity": "a ribonucleoside 5'-triphosphate + RNA(n) = diphosphate + RNA(n+1).", "evidence": [ { "id": "P10964", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10964" } ] }, { "ec_number": "2.7.7.6", "activity": "", "evidence": [ { "id": "P10964", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10964" } ] } ] }, { "uniprot_ac": "P13433", "gene_name": "RPO41", "activity": [ { "ec_number": "2.7.7.6", "activity": "a ribonucleoside 5'-triphosphate + RNA(n) = diphosphate + RNA(n+1).", "evidence": [ { "id": "P13433", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P13433" } ] }, { 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