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Aliases for POLRMT Gene

Aliases for POLRMT Gene

  • RNA Polymerase Mitochondrial 2 3 5
  • Polymerase (RNA) Mitochondrial (DNA Directed) 2 3
  • EC 2.7.7.6 4 56
  • MTRPOL 3 4
  • DNA-Directed RNA Polymerase, Mitochondrial 3
  • Polymerase (RNA) Mitochondrial 2
  • H-MtRPOL 3
  • APOLMT 3
  • MTRNAP 3

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. Among its related pathways are Organelle biogenesis and maintenance and Gene Expression. Gene Ontology (GO) annotations related to this gene include DNA-directed 5-3 RNA polymerase activity.

UniProtKB/Swiss-Prot for POLRMT Gene

  • DNA-dependent RNA polymerase catalyzes the transcription of mitochondrial DNA into RNA using the four ribonucleoside triphosphates as substrates.

Gene Wiki entry for POLRMT Gene

Additional gene information for POLRMT Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POLRMT Gene

Genomics for POLRMT Gene

GeneHancer (GH) Regulatory Elements for POLRMT Gene

Promoters and enhancers for POLRMT Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I000631 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 575.5 +0.3 346 2.6 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 ZNF766 E2F8 ZNF207 POLRMT LOC105372234 DAZAP1 STK11 MIER2 HCN2 ENSG00000261204 GC19P000611
GH19I001202 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 30.8 -573.2 -573153 8 ZFP64 FEZF1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC ZC3H11A STK11 CIRBP TMEM259 DAZAP1 LOC100288123 TCF3 PTBP1 GRIN3B DOT1L ENSG00000267317
GH19I001037 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 22.7 -406.8 -406831 6 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC ZNF610 GLIS1 NBN ABCA7 ENSG00000279753 DAZAP1 CIRBP TMEM259 LOC100288123 TCF3 PTBP1 GRIN3B ENSG00000267317
GH19I001236 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 13.2 -623.3 -623255 41.1 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF416 CIRBP C19orf24 MIDN CBARP ATP5F1D SF3A2 TCF3 TMEM259 LOC100288123 PTBP1
GH19I000795 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 13.3 -165.7 -165702 8.6 HDGF PKNOX1 CLOCK FOXA2 SMAD1 MLX ARNT ARID4B SIN3A FEZF1 PTBP1 DAZAP1 TCF3 TMEM259 STK11 MED16 CIRBP ENSG00000267317 RNF126 POLRMT
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around POLRMT on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the POLRMT gene promoter:

Genomic Locations for POLRMT Gene

Genomic Locations for POLRMT Gene
chr19:617,223-633,604
(GRCh38/hg38)
Size:
16,382 bases
Orientation:
Minus strand
chr19:617,223-633,597
(GRCh37/hg19)

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:
    • Interacts with TFB1M and TFB2M, leading to the stimulation of transcription. Interacts with TEFM.

    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

Other Protein References for POLRMT Gene

Domains & Families for POLRMT Gene

Gene Families for POLRMT Gene

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

Suggested Antigen Peptide Sequences for POLRMT Gene

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

GENATLAS Biochemistry:
mitochondrial RNA polymerase
UniProtKB/Swiss-Prot CatalyticActivity:
Nucleoside triphosphate + RNA(n) = diphosphate + RNA(n+1).
UniProtKB/Swiss-Prot Function:
DNA-dependent RNA polymerase catalyzes the transcription of mitochondrial DNA into RNA using the four ribonucleoside triphosphates as substrates.

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:0003677 DNA binding IEA --
GO:0003723 RNA binding IDA,HDA 22658674
GO:0003899 DNA-directed 5-3 RNA polymerase activity IEA,TAS 17337445
GO:0005515 protein binding IPI 17337445
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with POLRMT: view
genes like me logo Genes that share phenotypes with POLRMT: view

Animal Model Products

miRNA for POLRMT Gene

Clone Products

No data available for Human Phenotype Ontology , Animal Models , 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 2
cytosol 2

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:0034245 mitochondrial DNA-directed RNA polymerase complex IBA --
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

Interacting Proteins for POLRMT Gene

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 TAS,IDA 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 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
Thymidine 5'-triphosphate
  • 2'-Deoxythymidine 5'-triphosphate
  • 2'-Deoxythymidine triphosphate
  • 5'-TTP
  • 5-Methyl-dUTP
  • Deoxy-TTP
365-08-2
genes like me logo Genes that share compounds with POLRMT: view

Transcripts for POLRMT Gene

Unigene Clusters for POLRMT Gene

Polymerase (RNA) mitochondrial (DNA directed):
Representative Sequences:

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
ECgene alternative splicing isoforms for
POLRMT

Expression for POLRMT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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



NURSA nuclear receptor signaling pathways regulating expression of POLRMT Gene:

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 33 34
  • 97.38 (n)
dog
(Canis familiaris)
Mammalia POLRMT 33 34
  • 78.89 (n)
cow
(Bos Taurus)
Mammalia POLRMT 33 34
  • 77 (n)
rat
(Rattus norvegicus)
Mammalia Polrmt 33
  • 73.53 (n)
mouse
(Mus musculus)
Mammalia Polrmt 33 16 34
  • 73.38 (n)
oppossum
(Monodelphis domestica)
Mammalia POLRMT 34
  • 50 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POLRMT 34
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves POLRMT 33 34
  • 59.46 (n)
lizard
(Anolis carolinensis)
Reptilia POLRMT 34
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia polrmt 33
  • 55.07 (n)
Str.14540 33
African clawed frog
(Xenopus laevis)
Amphibia polrmt-A-prov 33
zebrafish
(Danio rerio)
Actinopterygii si:dkey-21e2.1 33
  • 55.64 (n)
POLRMT 34
  • 43 (a)
OneToOne
wufb73g10 33
fruit fly
(Drosophila melanogaster)
Insecta mtRNApol 33 34
  • 54.31 (n)
CG4644 35
  • 42 (a)
worm
(Caenorhabditis elegans)
Secernentea Y105E8A.23 35
  • 37 (a)
rpom-1 34
  • 27 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPO41 34
  • 24 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons SCA3 33
  • 48.01 (n)
rice
(Oryza sativa)
Liliopsida Os06g0652000 33
  • 46.32 (n)
Os.4148 33
wheat
(Triticum aestivum)
Liliopsida Ta.228 33
corn
(Zea mays)
Liliopsida Zm.629 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8878 34
  • 44 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.15612 33
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)

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 from dbSNP and Humsavar for POLRMT Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs796052172 likely-benign, Long QT syndrome 620,430(-) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000012164 -- 630,508(-) C/T intron_variant
rs1000061307 -- 626,752(-) T/C intron_variant
rs1000082900 -- 633,667(-) C/G upstream_transcript_variant
rs1000308483 -- 618,111(-) C/T intron_variant, non_coding_transcript_variant

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

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

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

(1) MalaCards diseases for POLRMT Gene - From: GeneCards

- 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 58
  2. TEFM (c17orf42) is necessary for transcription of human mtDNA. (PMID: 21278163) Minczuk M … Holt IJ (Nucleic acids research 2011) 3 4 58
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  4. Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk. (PMID: 19237606) Michiels S … Benhamou S (Carcinogenesis 2009) 3 44 58
  5. DNA conformation-dependent activities of human mitochondrial RNA polymerase. (PMID: 19624753) Fukuoh A … Kang D (Genes to cells : devoted to molecular & cellular mechanisms 2009) 3 22 58

Products for POLRMT Gene

Sources for POLRMT Gene