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    POLRMT RNA polymerase mitochondrial [ Homo sapiens (human) ]

    Gene ID: 5442, updated on 11-Apr-2024

    Summary

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    Official Symbol
    POLRMTprovided by HGNC
    Official Full Name
    RNA polymerase mitochondrialprovided by HGNC
    Primary source
    HGNC:HGNC:9200
    See related
    Ensembl:ENSG00000099821 MIM:601778; AllianceGenome:HGNC:9200
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    APOLMT; MTRNAP; MTRPOL; COXPD55; h-mtRPOL
    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]
    Expression
    Broad expression in testis (RPKM 15.0), kidney (RPKM 8.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See POLRMT in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (617221..633537, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (571527..587843, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (617221..633537, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene Rho GTPase activating protein 33 pseudogene Neighboring gene hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 Neighboring gene MPRA-validated peak3211 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9609 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13565 Neighboring gene uncharacterized LOC107987266 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13566 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:613339-613520 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:629803-630486 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9611 Neighboring gene uncharacterized LOC105372234 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9612 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13567 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:638495-639220 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9613 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:644145-645085 Neighboring gene fibroblast growth factor 22 Neighboring gene ring finger protein 126 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:657815-658727 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:658728-659641 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13568 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13569 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13570 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9614 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9615

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The requirement of mitochondrial RNA polymerase for non-small cell lung cancer cell growth. Zhou T, et al. Cell Death Dis, 2021 Jul 29. PMID 34326320, Free PMC Article
    2. POLRMT mutations impair mitochondrial transcription causing neurological disease. Oláhová M, et al. Nat Commun, 2021 Feb 18. PMID 33602924, Free PMC Article
    3. Length heterogeneity at conserved sequence block 2 in human mitochondrial DNA acts as a rheostat for RNA polymerase POLRMT activity. Tan BG, et al. Nucleic Acids Res, 2016 Sep 19. PMID 27436287, Free PMC Article
    4. Targeting mitochondrial RNA polymerase in acute myeloid leukemia. Bralha FN, et al. Oncotarget, 2015 Nov 10. PMID 26484416, Free PMC Article
    5. A novel intermediate in transcription initiation by human mitochondrial RNA polymerase. Morozov YI, et al. Nucleic Acids Res, 2014 Apr. PMID 24393772, Free PMC Article

    See all (113) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The requirement of mitochondrial RNA polymerase for non-small cell lung cancer cell growth.
      Title: The requirement of mitochondrial RNA polymerase for non-small cell lung cancer cell growth.
    2. TFB2M and POLRMT are essential for mammalian mitochondrial DNA replication.
      Title: TFB2M and POLRMT are essential for mammalian mitochondrial DNA replication.
    3. POLRMT mutations impair mitochondrial transcription causing neurological disease.
      Title: POLRMT mutations impair mitochondrial transcription causing neurological disease.
    4. the frequency of variation in sequence identity and length at conserved sequence block 2 amongst human mitochondrial genomes and used in vitro transcription to assess the effects of this length heterogeneity on the activity of the mitochondrial RNA polymerase, POLRMT, was examined.
      Title: Length heterogeneity at conserved sequence block 2 in human mitochondrial DNA acts as a rheostat for RNA polymerase POLRMT activity.
    5. Suggest targeting POLRMT as strategy for treating acute myeloid leukemia.
      Title: Targeting mitochondrial RNA polymerase in acute myeloid leukemia.
    6. knock-down of MRPL12 by RNA interference results in instability of POLRMT.
      Title: Mitochondrial Ribosomal Protein L12 Is Required for POLRMT Stability and Exists as Two Forms Generated by Alternative Proteolysis during Import.
    7. Results show that polymorphisms at POLG2 and POLRMT increased risk of oral cancer and leukoplakia, respectively, probably modulating synthesis and activity of the enzymes.
      Title: Association of DNA sequence variation in mitochondrial DNA polymerase with mitochondrial DNA synthesis and risk of oral cancer.
    8. The results reveal the organization of TFAM, POLRMT and TFB2M around the light-strand promoter and represent the first structural characterization of the entire mitochondrial transcriptional initiation complex.
      Title: Organization of the human mitochondrial transcription initiation complex.
    9. The results demonstrate that human TFAM binds to the N-terminal domain of mtRNAP, which results in bending of the promoter DNA around mtRNAP.
      Title: A novel intermediate in transcription initiation by human mitochondrial RNA polymerase.
    10. Newly synthesized RNA exits toward the pentatricopeptide repeat (PPR) domain, a unique feature of mtRNAP with conserved RNA-recognition motifs.
      Title: Structure of human mitochondrial RNA polymerase elongation complex.
    Submit: New GeneRIF Correction See all GeneRIFs (22)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Combined oxidative phosphorylation deficiency 55
    MedGen: C5676915 OMIM: 619743 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3'-5'-RNA exonuclease activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA primase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA-directed 5'-3' RNA polymerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-directed 5'-3' RNA polymerase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA-directed 5'-3' RNA polymerase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables RNA binding HDA PubMed 
    enables mitochondrial promoter sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA replication, synthesis of primer IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitochondrial transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mitochondrial transcription TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in transcription initiation at mitochondrial promoter IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of mitochondrial DNA-directed RNA polymerase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial matrix NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrial nucleoid IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    DNA-directed RNA polymerase, mitochondrial
    Names
    polymerase (RNA) mitochondrial (DNA directed)
    NP_001394734.1
    NP_001394735.1
    NP_001394736.1
    NP_001394737.1
    NP_001394738.1
    NP_001394739.1
    NP_001394740.1
    NP_001394741.1
    NP_001394742.1
    NP_001394743.1
    NP_001394744.1
    NP_001394745.1
    NP_001394758.1
    NP_001394759.1
    NP_001394760.1
    NP_001394761.1
    NP_001394762.1
    NP_001394763.1
    NP_001394764.1
    NP_001394765.1
    NP_005026.3
    XP_047294907.1
    XP_054177217.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_023049.1 RefSeqGene

      Range
      5032..21348
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001407805.1 → NP_001394734.1  DNA-directed RNA polymerase, mitochondrial isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC004449

    2. NM_001407806.1 → NP_001394735.1  DNA-directed RNA polymerase, mitochondrial isoform 2 precursor

      Status: REVIEWED

      Source sequence(s)
      AC004449

    3. NM_001407807.1 → NP_001394736.1  DNA-directed RNA polymerase, mitochondrial isoform 3 precursor

      Status: REVIEWED

      Source sequence(s)
      AC004449

    4. NM_001407808.1 → NP_001394737.1  DNA-directed RNA polymerase, mitochondrial isoform 4 precursor

      Status: REVIEWED

      Source sequence(s)
      AC004449

    5. NM_001407809.1 → NP_001394738.1  DNA-directed RNA polymerase, mitochondrial isoform 6 precursor

      Status: REVIEWED

      Source sequence(s)
      AC004449

    6. NM_001407810.1 → NP_001394739.1  DNA-directed RNA polymerase, mitochondrial isoform 7 precursor

      Status: REVIEWED

      Source sequence(s)
      AC004449

    7. NM_001407811.1 → NP_001394740.1  DNA-directed RNA polymerase, mitochondrial isoform 8 precursor

      Status: REVIEWED

      Source sequence(s)
      AC004449

    8. NM_001407812.1 → NP_001394741.1  DNA-directed RNA polymerase, mitochondrial isoform 9 precursor

      Status: REVIEWED

      Source sequence(s)
      AC004449

    9. NM_001407813.1 → NP_001394742.1  DNA-directed RNA polymerase, mitochondrial isoform 10 precursor

      Status: REVIEWED

      Source sequence(s)
      AC004449

    10. NM_001407814.1 → NP_001394743.1  DNA-directed RNA polymerase, mitochondrial isoform 11 precursor

      Status: REVIEWED

      Source sequence(s)
      AC004449

    11. NM_001407815.1 → NP_001394744.1  DNA-directed RNA polymerase, mitochondrial isoform 12 precursor

      Status: REVIEWED

      Source sequence(s)
      AC004449

    12. NM_001407816.1 → NP_001394745.1  DNA-directed RNA polymerase, mitochondrial isoform 13 precursor

      Status: REVIEWED

      Source sequence(s)
      AC004449

    13. NM_001407829.1 → NP_001394758.1  DNA-directed RNA polymerase, mitochondrial isoform 14 precursor

      Status: REVIEWED

      Source sequence(s)
      AC004449

    14. NM_001407830.1 → NP_001394759.1  DNA-directed RNA polymerase, mitochondrial isoform 15 precursor

      Status: REVIEWED

      Source sequence(s)
      AC004449

    15. NM_001407831.1 → NP_001394760.1  DNA-directed RNA polymerase, mitochondrial isoform 16

      Status: REVIEWED

      Source sequence(s)
      AC004449

    16. NM_001407832.1 → NP_001394761.1  DNA-directed RNA polymerase, mitochondrial isoform 17 precursor

      Status: REVIEWED

      Source sequence(s)
      AC004449

    17. NM_001407833.1 → NP_001394762.1  DNA-directed RNA polymerase, mitochondrial isoform 18

      Status: REVIEWED

      Source sequence(s)
      AC004449

    18. NM_001407834.1 → NP_001394763.1  DNA-directed RNA polymerase, mitochondrial isoform 19

      Status: REVIEWED

      Source sequence(s)
      AC004449

    19. NM_001407835.1 → NP_001394764.1  DNA-directed RNA polymerase, mitochondrial isoform 20

      Status: REVIEWED

      Source sequence(s)
      AC004449

    20. NM_001407836.1 → NP_001394765.1  DNA-directed RNA polymerase, mitochondrial isoform 21

      Status: REVIEWED

      Source sequence(s)
      AC004449

    21. NM_005035.4 → NP_005026.3  DNA-directed RNA polymerase, mitochondrial isoform 5 precursor

      See identical proteins and their annotated locations for NP_005026.3

      Status: REVIEWED

      Source sequence(s)
      AC004449, BC030829, BC070057, BC098387
      Consensus CDS
      CCDS12036.1
      UniProtKB/Swiss-Prot
      O00411, O60370
      UniProtKB/TrEMBL
      Q4G0F4
      Related
      ENSP00000465759.2, ENST00000588649.7
      Conserved Domains (3) summary
      sd00004
      Location:261 → 290
      PPR; PPR repeat [structural motif]
      pfam00940
      Location:831 → 1229
      RNA_pol; DNA-dependent RNA polymerase
      pfam14700
      Location:432 → 703
      RPOL_N; DNA-directed RNA polymerase N-terminal

    RNA

    1. NR_176425.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC004449

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      617221..633537 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047438951.1 → XP_047294907.1  DNA-directed RNA polymerase, mitochondrial isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      571527..587843 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321242.1 → XP_054177217.1  DNA-directed RNA polymerase, mitochondrial isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O00411.2 GenPept UniProtKB/Swiss-Prot:O00411

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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