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Aliases for POLRMT Gene

Aliases for POLRMT Gene

  • Polymerase (RNA) Mitochondrial (DNA Directed) 2 3
  • EC 2.7.7.6 4 63
  • MTRPOL 3 4
  • 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 (Polymerase (RNA) Mitochondrial (DNA Directed)) 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. 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for POLRMT Gene at MOPED

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:0003677 DNA binding IEA --
GO:0003899 DNA-directed RNA polymerase activity TAS 17337445
GO:0005515 protein binding IPI 17337445
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with POLRMT: view

Phenotypes for POLRMT Gene

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

Animal Model Products

miRNA for POLRMT Gene

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for POLRMT

In Situ Assay Products

Flow Cytometry Products

No data available for 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
nucleus 1

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: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 --
GO:0006390 transcription from mitochondrial promoter TAS 17337445
GO:0006391 transcription initiation from mitochondrial promoter TAS --
GO:0006996 organelle organization 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
Adenosine triphosphate Approved Nutra 0
Cytidine triphosphate Experimental Pharma 0
Diphosphate 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
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Thymidine 5'-triphosphate
  • 2'-Deoxythymidine 5'-triphosphate
  • 2'-Deoxythymidine triphosphate
  • 5'-TTP
  • 5-Methyl-dUTP
  • Deoxy-TTP
365-08-2
Nucleoside
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for POLRMT

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, MOPED, and MaxQB for POLRMT Gene



SOURCE GeneReport for Unigene cluster for POLRMT Gene Hs.254113

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

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia POLRMT 35
  • 77 (n)
  • 69.92 (a)
POLRMT 36
  • 69 (a)
OneToOne
dog
(Canis familiaris)
Mammalia POLRMT 35
  • 78.89 (n)
  • 71.5 (a)
POLRMT 36
  • 60 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Polrmt 35
  • 73.38 (n)
  • 68.59 (a)
Polrmt 16
Polrmt 36
  • 67 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia POLRMT 35
  • 97.38 (n)
  • 96.39 (a)
POLRMT 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Polrmt 35
  • 73.53 (n)
  • 67.34 (a)
oppossum
(Monodelphis domestica)
Mammalia POLRMT 36
  • 50 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POLRMT 36
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves POLRMT 35
  • 59.46 (n)
  • 49.83 (a)
POLRMT 36
  • 47 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia POLRMT 36
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia polrmt 35
  • 55.07 (n)
  • 50.82 (a)
Str.14540 35
African clawed frog
(Xenopus laevis)
Amphibia polrmt-A-prov 35
zebrafish
(Danio rerio)
Actinopterygii si:dkey-21e2.1 35
  • 55.64 (n)
  • 49.06 (a)
wufb73g10 35
POLRMT 36
  • 43 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG4644 37
  • 42 (a)
mtRNApol 35
  • 54.31 (n)
  • 45.82 (a)
mtRNApol 36
  • 33 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y105E8A.23 37
  • 37 (a)
rpom-1 36
  • 27 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPO41 36
  • 24 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons SCA3 35
  • 48.01 (n)
  • 43.4 (a)
rice
(Oryza sativa)
Liliopsida Os.4148 35
Os06g0652000 35
  • 46.32 (n)
  • 42.72 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.228 35
corn
(Zea mays)
Liliopsida Zm.629 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.15612 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8878 36
  • 44 (a)
OneToOne
Species with no ortholog for POLRMT:
  • 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 MAF
rs14155 -- 619,021(-) CAGCC(A/C/G)TATCG synonymous-codon, reference
rs746116 -- 626,913(-) TTTTA(C/T)ATATA intron-variant
rs746117 -- 626,898(-) tatat(A/G)tgtgt intron-variant
rs1056763 -- 621,790(-) GCGGA(A/G)CCCAC synonymous-codon, reference
rs1056766 -- 625,198(-) TTGAC(C/G/T)CCGGA synonymous-codon, reference

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

Variant ID Type Subtype PubMed ID
nsv428360 CNV Gain 18775914
nsv910102 CNV Loss 21882294
nsv910109 CNV Loss 21882294
nsv470101 CNV Loss 18288195
dgv3508n71 CNV Loss 21882294
dgv3510n71 CNV Loss 21882294
dgv3511n71 CNV Loss 21882294
dgv3512n71 CNV Loss 21882294
dgv3513n71 CNV Loss 21882294
dgv3514n71 CNV Gain 21882294
dgv3515n71 CNV Loss 21882294
dgv3516n71 CNV Loss 21882294
dgv3518n71 CNV Loss 21882294
dgv3519n71 CNV Gain+Loss 21882294
dgv3525n71 CNV Loss 21882294
dgv3526n71 CNV Loss 21882294
dgv3527n71 CNV Loss 21882294
dgv3528n71 CNV Loss 21882294
dgv3530n71 CNV Gain 21882294
dgv3531n71 CNV Loss 21882294
nsv910224 CNV Loss 21882294
dgv3532n71 CNV Gain 21882294
dgv3533n71 CNV Gain+Loss 21882294
dgv3534n71 CNV Loss 21882294
nsv910233 CNV Loss 21882294
nsv910235 CNV Loss 21882294
esv27631 CNV Gain 19812545
nsv910238 CNV Loss 21882294
dgv3535n71 CNV Loss 21882294
dgv3536n71 CNV Gain 21882294
dgv3537n71 CNV Loss 21882294
nsv482205 CNV Gain 20164927
nsv828351 CNV Gain 20364138
esv2717756 CNV Deletion 23290073
nsv910246 CNV Gain+Loss 21882294
dgv3538n71 CNV Gain 21882294
dgv3539n71 CNV Loss 21882294

Variation tolerance for POLRMT Gene

Residual Variation Intolerance Score: 66.29% 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

HapMap Linkage Disequilibrium report
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

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. DNA conformation-dependent activities of human mitochondrial RNA polymerase. (PMID: 19624753) Fukuoh A. … Kang D. (Genes Cells 2009) 23 67
  2. Base pair hydrogen bonds are essential for proofreading selectivity by the human mitochondrial DNA polymerase. (PMID: 17650503) Lee H.R. … Johnson K.A. (J. Biol. Chem. 2008) 23 67
  3. Stable PNPase RNAi silencing: its effect on the processing and adenylation of human mitochondrial RNA. (PMID: 18083837) Slomovic S. … Schuster G. (RNA 2008) 23 67
  4. Transcriptional paradigms in mammalian mitochondrial biogenesis and function. (PMID: 18391175) Scarpulla R.C. (Physiol. Rev. 2008) 23 67
  5. Human mitochondrial ribosomal protein MRPL12 interacts directly with mitochondrial RNA polymerase to modulate mitochondrial gene expression. (PMID: 17337445) Wang Z. … Shadel G.S. (J. Biol. Chem. 2007) 23 67

Products for POLRMT Gene

Sources for POLRMT Gene

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