Free for academic non-profit institutions. Other users need a Commercial license

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 61
  • 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 Mitochondrial Gene Expression and Purine metabolism (KEGG). GO annotations related to this gene include poly(A) RNA binding and DNA-directed 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

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

Genomics for POLRMT Gene

Regulatory Elements for POLRMT Gene

Enhancers for POLRMT Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F001202 1 Ensembl ENCODE 19.5 -573.2 -573153 8.0 MLX CREB3L1 ZFP64 FEZF1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D CIRBP TMEM259 LOC100288123 GRIN3B SCAMP4 ENSG00000261526 ENSG00000267317 MIER2 POLRMT C19orf24
GH19F000631 0.2 ENCODE 14.1 +0.3 347 2.6 HDGF PKNOX1 ARNT CREB3L1 SIN3A ARID4B DMAP1 YY1 ZNF766 ZNF207 POLRMT FSTL3 HCN2 ENSG00000261204 GC19P000611
GH19F000615 1 Ensembl ENCODE 13.4 +13.4 13352 9.7 BCOR CTCF KLF1 ZNF792 INSM2 ZMYM3 KLF17 RAD21 BCL11B ZIC2 POLRMT HCN2 SHC2 GC19P000611
GH19F000566 1 Ensembl ENCODE 12.3 +66.3 66304 2.6 PKNOX1 CREB3L1 ARID4B CBX5 ELK1 GATA2 KDM4B SP5 NFIL3 SMARCA4 LOC105372233 POLRMT FGF22 ARHGAP45 BSG PIR53036
GH19F000669 0.8 Ensembl ENCODE 11.6 -35.5 -35497 1.0 ELF3 HDAC1 ATF1 MLX ZFP64 ARID4B ZNF48 RARA GATA4 CREM CIRBP TMEM259 POLRMT GRIN3B GC19M000655 GC19P000669
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around POLRMT on UCSC Golden Path with GeneCards custom track

Promoters for POLRMT Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000341204 104 2201 HDGF PKNOX1 ARNT CREB3L1 SIN3A ARID4B DMAP1 YY1 ZNF766 ZNF207

Genomic Location for POLRMT Gene

Chromosome:
19
Start:
617,223 bp from pter
End:
633,604 bp from pter
Size:
16,382 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:
    • 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

Post-translational modifications for POLRMT Gene

  • Ubiquitination at Lys 1197
  • Modification sites at PhosphoSitePlus

Other Protein References for POLRMT Gene

Domains & Families for POLRMT Gene

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

No data available for Gene Families for POLRMT Gene

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

Gene Ontology (GO) - Molecular Function for POLRMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000997 mitochondrial RNA polymerase core promoter sequence-specific DNA binding IBA --
GO:0003899 DNA-directed RNA polymerase activity IEA,TAS 17337445
GO:0005515 protein binding IPI 17337445
GO:0016740 transferase activity IEA --
GO:0016779 nucleotidyltransferase 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

  • Taconic Biosciences Mouse Models for POLRMT

miRNA for POLRMT Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry 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
Jensen Localization Image for POLRMT Gene COMPARTMENTS Subcellular localization image for POLRMT gene
Compartment Confidence
mitochondrion 5
cytosol 2
nucleus 2

Gene Ontology (GO) - Cellular Components for POLRMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,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 transcription from mitochondrial promoter 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
Adenosine triphosphate Approved Nutra 0
Cytidine triphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
Uridine triphosphate Experimental Pharma 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:

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 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
genes like me logo Genes that share expression patterns with POLRMT: view

Primer Products

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 and mRNA Expression by UniProt/SwissProt 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 34 35
  • 97.38 (n)
dog
(Canis familiaris)
Mammalia POLRMT 34 35
  • 78.89 (n)
cow
(Bos Taurus)
Mammalia POLRMT 34 35
  • 77 (n)
rat
(Rattus norvegicus)
Mammalia Polrmt 34
  • 73.53 (n)
mouse
(Mus musculus)
Mammalia Polrmt 34 16 35
  • 73.38 (n)
oppossum
(Monodelphis domestica)
Mammalia POLRMT 35
  • 50 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POLRMT 35
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves POLRMT 34 35
  • 59.46 (n)
lizard
(Anolis carolinensis)
Reptilia POLRMT 35
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia polrmt 34
  • 55.07 (n)
Str.14540 34
African clawed frog
(Xenopus laevis)
Amphibia polrmt-A-prov 34
zebrafish
(Danio rerio)
Actinopterygii si:dkey-21e2.1 34
  • 55.64 (n)
POLRMT 35
  • 43 (a)
OneToOne
wufb73g10 34
fruit fly
(Drosophila melanogaster)
Insecta mtRNApol 34 35
  • 54.31 (n)
CG4644 36
  • 42 (a)
worm
(Caenorhabditis elegans)
Secernentea Y105E8A.23 36
  • 37 (a)
rpom-1 35
  • 27 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPO41 35
  • 24 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons SCA3 34
  • 48.01 (n)
rice
(Oryza sativa)
Liliopsida Os06g0652000 34
  • 46.32 (n)
Os.4148 34
wheat
(Triticum aestivum)
Liliopsida Ta.228 34
corn
(Zea mays)
Liliopsida Zm.629 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8878 35
  • 44 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.15612 34
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 Sequence Context AA Info Type
rs796052172 Likely benign 620,430(-) GTATG(A/G)AGGTG nc-transcript-variant, reference, missense
rs10153476 -- 632,737(+) GAGAC(C/T)GCCCT intron-variant, upstream-variant-2KB
rs10402078 -- 630,665(+) AGTTC(A/G)CACCC intron-variant
rs10402097 -- 630,699(+) TGGTG(C/G)AGCTG intron-variant
rs10407135 -- 624,196(+) ctcag(G/T)gggag intron-variant

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)

Relevant External Links 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

Relevant External Links for POLRMT

Genetic Association Database (GAD)
POLRMT
Human Genome Epidemiology (HuGE) Navigator
POLRMT
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
POLRMT
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. (Hum. Mol. Genet. 1997) 2 3 4 64
  2. TEFM (c17orf42) is necessary for transcription of human mtDNA. (PMID: 21278163) Minczuk M. … Holt I.J. (Nucleic Acids Res. 2011) 3 4 64
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  4. Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk. (PMID: 19237606) Michiels S. … Benhamou S. (Carcinogenesis 2009) 3 46 64
  5. DNA conformation-dependent activities of human mitochondrial RNA polymerase. (PMID: 19624753) Fukuoh A. … Kang D. (Genes Cells 2009) 3 22 64

Products for POLRMT Gene

Sources for POLRMT Gene

Content
Loading form....