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 a... See more...

Aliases for POLRMT Gene

Aliases for POLRMT Gene

  • RNA Polymerase Mitochondrial 2 3 5
  • Polymerase (RNA) Mitochondrial (DNA Directed) 2 3
  • DNA-Directed RNA Polymerase, Mitochondrial 3 4
  • EC 2.7.7.6 4 52
  • Polymerase (RNA) Mitochondrial 2
  • H-MtRPOL 3
  • APOLMT 3
  • MTRNAP 3
  • MTRPOL 3
  • MtRPOL 4

External Ids for POLRMT Gene

Previous GeneCards Identifiers for POLRMT Gene

  • GC19M000669
  • GC19M000557
  • GC19M000568
  • GC19M000387

Summaries for POLRMT Gene

Entrez Gene Summary for POLRMT Gene

  • 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]

GeneCards Summary for POLRMT Gene

POLRMT (RNA Polymerase Mitochondrial) is a Protein Coding gene. Diseases associated with POLRMT include Autosomal Dominant Progressive External Ophthalmoplegia and Leber Optic Atrophy. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and ATP/ITP metabolism. Gene Ontology (GO) annotations related to this gene include DNA-directed 5'-3' RNA polymerase activity.

UniProtKB/Swiss-Prot Summary for POLRMT Gene

  • DNA-dependent RNA polymerase catalyzes the transcription of mitochondrial DNA into RNA using the four ribonucleoside triphosphates as substrates (PubMed:21278163). 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).

Gene Wiki entry for POLRMT Gene

Additional gene information for POLRMT Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for POLRMT Gene

Genomics for POLRMT Gene

GeneHancer (GH) Regulatory Elements for POLRMT Gene

Promoters and enhancers for POLRMT Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around POLRMT on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for POLRMT

Top Transcription factor binding sites by QIAGEN in the POLRMT gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • E47
  • Egr-4
  • HEN1
  • Lmo2
  • MyoD
  • POU3F2

Genomic Locations for POLRMT Gene

Genomic Locations for POLRMT Gene
chr19:617,221-633,592
(GRCh38/hg38)
Size:
16,372 bases
Orientation:
Minus strand
chr19:617,223-633,597
(GRCh37/hg19)
Size:
16,375 bases
Orientation:
Minus strand

Genomic View for POLRMT Gene

Genes around POLRMT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POLRMT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POLRMT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POLRMT Gene

Proteins for POLRMT Gene

  • Protein details for POLRMT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00411-RPOM_HUMAN
    Recommended name:
    DNA-directed RNA polymerase, mitochondrial
    Protein Accession:
    O00411
    Secondary Accessions:
    • O60370

    Protein attributes for POLRMT Gene

    Size:
    1230 amino acids
    Molecular mass:
    138620 Da
    Quaternary structure:
    • Homodimer (PubMed:29149603). Component of the mitochondrial transcription initiation complex, composed at least of TFB2M, TFAM and POLRMT (PubMed:29149603). In this complex TFAM recruits POLRMT to the promoter whereas TFB2M induces structural changes in POLRMT to enable promoter opening and trapping of the DNA non-template strand (PubMed:29149603). Upon metabolic stress, forms a complex composed of FOXO3, SIRT3 and mitochondrial RNA polymerase POLRMT; the complex is recruited to mtDNA in a SIRT3-dependent manner (PubMed:23283301). Also forms a complex composed of FOXO3, SIRT3, TFAM and POLRMT (PubMed:29445193). Interacts with TFB1M and TFB2M, leading to the stimulation of transcription (PubMed:12068295). Interacts with TEFM (PubMed:21278163). Interacts with MTRES1 (PubMed:31226201).

    Three dimensional structures from OCA and Proteopedia for POLRMT Gene

neXtProt entry for POLRMT Gene

Selected DME Specific Peptides for POLRMT Gene

O00411:
  • VKQTVMT
  • CNGLQHYAALG
  • PNFIHSLD

Post-translational modifications for POLRMT Gene

  • Ubiquitination at Lys1197
  • Modification sites at PhosphoSitePlus

Other Protein References for POLRMT Gene

Domains & Families for POLRMT Gene

Gene Families for POLRMT Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for POLRMT Gene

Blocks:
  • DNA-directed RNA polymerase, bacteriophage type
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for POLRMT Gene

GenScript: Design optimal peptide antigens:
  • DNA-directed RNA polymerase (Q4G0F4_HUMAN)
  • DNA-directed RNA polymerase, mitochondrial (RPOM_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O00411

UniProtKB/Swiss-Prot:

RPOM_HUMAN :
  • Belongs to the phage and mitochondrial RNA polymerase family.
Family:
  • Belongs to the phage and mitochondrial RNA polymerase family.
genes like me logo Genes that share domains with POLRMT: view

Function for POLRMT Gene

Molecular function for POLRMT Gene

UniProtKB/Swiss-Prot Function:
DNA-dependent RNA polymerase catalyzes the transcription of mitochondrial DNA into RNA using the four ribonucleoside triphosphates as substrates (PubMed:21278163). 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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a ribonucleoside 5'-triphosphate + RNA(n) = diphosphate + RNA(n+1); Xref=Rhea:RHEA:21248, Rhea:RHEA-COMP:11128, Rhea:RHEA-COMP:11129, ChEBI:CHEBI:33019, ChEBI:CHEBI:61557, ChEBI:CHEBI:83400; EC=2.7.7.6; Evidence={ECO:0000255 PROSITE-ProRule:PRU10031, ECO:0000255 PROSITE-ProRule:PRU10032};.
GENATLAS Biochemistry:
mitochondrial RNA polymerase

Enzyme Numbers (IUBMB) for POLRMT Gene

Phenotypes From GWAS Catalog for POLRMT Gene

Gene Ontology (GO) - Molecular Function for POLRMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001018 mitochondrial promoter sequence-specific DNA binding IBA 21873635
GO:0003677 DNA binding IEA --
GO:0003723 RNA binding HDA 22658674
GO:0003899 DNA-directed 5'-3' RNA polymerase activity TAS,IEA 17337445
GO:0005515 protein binding IEA,IPI 17337445
genes like me logo Genes that share ontologies with POLRMT: view
genes like me logo Genes that share phenotypes with POLRMT: view

Animal Models for POLRMT Gene

MGI Knock Outs for POLRMT:

Animal Model Products

  • Taconic Biosciences Mouse Models for POLRMT

CRISPR Products

miRNA for POLRMT Gene

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for POLRMT Gene

Localization for POLRMT Gene

Subcellular locations from UniProtKB/Swiss-Prot for POLRMT Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for POLRMT gene
Compartment Confidence
mitochondrion 5
nucleus 3
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for POLRMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 17337445
GO:0005759 mitochondrial matrix TAS --
GO:0032991 protein-containing complex IDA,IEA 23283301
GO:0034245 mitochondrial DNA-directed RNA polymerase complex IBA 21873635
GO:0042645 mitochondrial nucleoid IDA 18063578
genes like me logo Genes that share ontologies with POLRMT: view

Pathways & Interactions for POLRMT Gene

genes like me logo Genes that share pathways with POLRMT: view

Pathways by source for POLRMT Gene

1 GeneGo (Thomson Reuters) pathway for POLRMT Gene
  • ATP/ITP metabolism

Gene Ontology (GO) - Biological Process for POLRMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006390 mitochondrial transcription IBA,TAS 17337445
GO:0006391 transcription initiation from mitochondrial promoter TAS --
GO:0007005 mitochondrion organization TAS --
genes like me logo Genes that share ontologies with POLRMT: view

No data available for SIGNOR curated interactions for POLRMT Gene

Drugs & Compounds for POLRMT Gene

(5) Drugs for POLRMT Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Cytidine triphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
Uridine triphosphate Experimental, Investigational Pharma 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

(3) Additional Compounds for POLRMT Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
Thymidine 5'-triphosphate
  • 2'-Deoxythymidine triphosphate
  • 5'-TTP
  • Deoxy-TTP
  • Deoxythymidine 5'-triphosphate
  • Deoxythymidine triphosphate
365-08-2
genes like me logo Genes that share compounds with POLRMT: view

Transcripts for POLRMT Gene

mRNA/cDNA for POLRMT Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for POLRMT Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b · 15c ^ 16 ^
SP1:
SP2: -
SP3: -
SP4:
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10: - -
SP11: -
SP12:
SP13: -

ExUns: 17 ^ 18a · 18b ^ 19a · 19b ^ 20a · 20b ^ 21a · 21b · 21c ^ 22 ^ 23a · 23b · 23c
SP1: - -
SP2: - -
SP3:
SP4:
SP5:
SP6: - -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for POLRMT Gene

GeneLoc Exon Structure for
POLRMT

Expression for POLRMT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for POLRMT Gene

Protein differential expression in normal tissues from HIPED for POLRMT Gene

This gene is overexpressed in Colon muscle (34.1) and Lung (15.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for POLRMT Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for POLRMT

SOURCE GeneReport for Unigene cluster for POLRMT Gene:

Hs.254113

Evidence on tissue expression from TISSUES for POLRMT Gene

  • Liver(4.2)
  • Nervous system(2.1)
genes like me logo Genes that share expression patterns with POLRMT: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for POLRMT Gene

Orthologs for POLRMT Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for POLRMT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia POLRMT 31 30
  • 97.38 (n)
OneToOne
dog
(Canis familiaris)
Mammalia POLRMT 31 30
  • 78.89 (n)
OneToOne
cow
(Bos Taurus)
Mammalia POLRMT 31 30
  • 77 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Polrmt 30
  • 73.53 (n)
mouse
(Mus musculus)
Mammalia Polrmt 17 31 30
  • 73.38 (n)
oppossum
(Monodelphis domestica)
Mammalia POLRMT 31
  • 50 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POLRMT 31
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves POLRMT 31 30
  • 59.46 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia POLRMT 31
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia polrmt 30
  • 55.07 (n)
Str.14540 30
African clawed frog
(Xenopus laevis)
Amphibia polrmt-A-prov 30
zebrafish
(Danio rerio)
Actinopterygii si:dkey-21e2.1 30
  • 55.64 (n)
POLRMT 31
  • 43 (a)
OneToOne
wufb73g10 30
fruit fly
(Drosophila melanogaster)
Insecta mtRNApol 31 30
  • 54.31 (n)
OneToOne
CG4644 32
  • 42 (a)
worm
(Caenorhabditis elegans)
Secernentea Y105E8A.23 32
  • 37 (a)
rpom-1 31
  • 27 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPO41 31
  • 24 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons SCA3 30
  • 48.01 (n)
rice
(Oryza sativa)
Liliopsida Os06g0652000 30
  • 46.32 (n)
Os.4148 30
wheat
(Triticum aestivum)
Liliopsida Ta.228 30
corn
(Zea mays)
Liliopsida Zm.629 30
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8878 31
  • 44 (a)
OneToOne
Cin.15612 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.15612 30
Species where no ortholog for POLRMT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for POLRMT Gene

ENSEMBL:
Gene Tree for POLRMT (if available)
TreeFam:
Gene Tree for POLRMT (if available)
Aminode:
Evolutionary constrained regions (ECRs) for POLRMT: view image

Paralogs for POLRMT Gene

Pseudogenes.org Pseudogenes for POLRMT Gene

genes like me logo Genes that share paralogs with POLRMT: view

No data available for Paralogs for POLRMT Gene

Variants for POLRMT Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for POLRMT Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs796052172 Likely Benign: Long QT syndrome 620,430(-) C/T MISSENSE_VARIANT
rs2238549 - p.Glu555Ala

Additional dbSNP identifiers (rs#s) for POLRMT Gene

Structural Variations from Database of Genomic Variants (DGV) for POLRMT Gene

Variant ID Type Subtype PubMed ID
dgv134n111 CNV deletion 26073780
esv2717756 CNV deletion 23290073
esv27631 CNV gain 19812545
nsv428360 CNV gain 18775914
nsv470101 CNV loss 18288195
nsv482205 CNV gain 20164927
nsv577978 CNV gain 21841781
nsv578163 CNV loss 21841781
nsv828351 CNV gain 20364138
nsv953938 CNV deletion 24416366

Variation tolerance for POLRMT Gene

Residual Variation Intolerance Score: 66.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.91; 87.14% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for POLRMT Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
POLRMT

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POLRMT Gene

Disorders for POLRMT Gene

MalaCards: The human disease database

(4) MalaCards diseases for POLRMT Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
autosomal dominant progressive external ophthalmoplegia
  • adpeo
leber optic atrophy
  • leber optic atrophy, susceptibility to
leigh syndrome
  • ls
mitochondrial metabolism disease
  • mitochondrial diseases
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for POLRMT

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with POLRMT: view

No data available for UniProtKB/Swiss-Prot and Genatlas for POLRMT Gene

Publications for POLRMT Gene

  1. Identification of the gene encoding the human mitochondrial RNA polymerase (h-mtRPOL) by cyberscreening of the Expressed Sequence Tags database. (PMID: 9097968) Tiranti V … Zeviani M (Human molecular genetics 1997) 2 3 4 54
  2. Quantitative proteomics revealed C6orf203/MTRES1 as a factor preventing stress-induced transcription deficiency in human mitochondria. (PMID: 31226201) Kotrys AV … Szczesny RJ (Nucleic acids research 2019) 3 4 54
  3. Uncoupling FoxO3A mitochondrial and nuclear functions in cancer cells undergoing metabolic stress and chemotherapy. (PMID: 29445193) Celestini V … Simone C (Cell death & disease 2018) 3 4 54
  4. A novel AMPK-dependent FoxO3A-SIRT3 intramitochondrial complex sensing glucose levels. (PMID: 23283301) Peserico A … Simone C (Cellular and molecular life sciences : CMLS 2013) 3 4 54
  5. TEFM (c17orf42) is necessary for transcription of human mtDNA. (PMID: 21278163) Minczuk M … Holt IJ (Nucleic acids research 2011) 3 4 54

Products for POLRMT Gene