Aliases for POLR1E Gene

Aliases for POLR1E Gene

  • RNA Polymerase I Subunit E 2 3 5
  • PAF53 2 3 4
  • DNA-Directed RNA Polymerase I Subunit RPA49 3 4
  • Polymerase (RNA) I Polypeptide E, 53kDa 2 3
  • DNA-Directed RNA Polymerase I Subunit E 3 4
  • Polymerase (RNA) I Associated Factor 1 2 3
  • RNA Polymerase I-Associated Factor 53 3 4
  • RNA Polymerase I Subunit A49 3 4
  • PRAF1 3 4
  • RPA49 2 3
  • RNA Polymerase I Associated Factor 53 2
  • RNA Polymerase I-Associated Factor 1 4
  • Polymerase (RNA) I Subunit E 3
  • FLJ13390 2
  • FLJ13970 2
  • POLR1E 5
  • A49 3

External Ids for POLR1E Gene

Previous HGNC Symbols for POLR1E Gene

  • PRAF1

Previous GeneCards Identifiers for POLR1E Gene

  • GC09P037477
  • GC09P037437
  • GC09P037486
  • GC09P037487
  • GC09P037490
  • GC09P037495

Summaries for POLR1E Gene

GeneCards Summary for POLR1E Gene

POLR1E (RNA Polymerase I Subunit E) is a Protein Coding gene. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and RNA Polymerase III Transcription Initiation. Gene Ontology (GO) annotations related to this gene include DNA-directed 5'-3' RNA polymerase activity and RNA polymerase I transcription factor binding.

UniProtKB/Swiss-Prot Summary for POLR1E Gene

  • DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase I which synthesizes ribosomal RNA precursors (PubMed:24207024). Appears to be involved in the formation of the initiation complex at the promoter by mediating the interaction between Pol I and UBTF/UBF (PubMed:24207024).

Gene Wiki entry for POLR1E Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for POLR1E Gene

Genomics for POLR1E Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for POLR1E 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 POLR1E on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for POLR1E

Top Transcription factor binding sites by QIAGEN in the POLR1E gene promoter:
  • aMEF-2
  • CUTL1
  • FOXJ2
  • FOXJ2 (long isoform)
  • MEF-2
  • MEF-2A
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1

Genomic Locations for POLR1E Gene

Latest Assembly
chr9:37,485,948-37,503,697
(GRCh38/hg38)
Size:
17,750 bases
Orientation:
Plus strand

Previous Assembly
chr9:37,485,945-37,503,694
(GRCh37/hg19 by Entrez Gene)
Size:
17,750 bases
Orientation:
Plus strand

chr9:37,485,932-37,503,694
(GRCh37/hg19 by Ensembl)
Size:
17,763 bases
Orientation:
Plus strand

Genomic View for POLR1E Gene

Genes around POLR1E on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POLR1E Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POLR1E Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POLR1E Gene

Proteins for POLR1E Gene

  • Protein details for POLR1E Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9GZS1-RPA49_HUMAN
    Recommended name:
    DNA-directed RNA polymerase I subunit RPA49
    Protein Accession:
    Q9GZS1
    Secondary Accessions:
    • Q5VZT3
    • Q8NBA9
    • Q96L20

    Protein attributes for POLR1E Gene

    Size:
    419 amino acids
    Molecular mass:
    47260 Da
    Quaternary structure:
    • Component of the RNA polymerase I (Pol I) complex consisting of at least 13 subunits (PubMed:16809778, PubMed:29065309). Interacts with POLR1G (By similarity). Also binds UBTF/UBF (By similarity). Interacts with PWP1 (PubMed:29065309).
    Miscellaneous:
    • [Isoform 1]: Dubious isoform produced through intron retention.

    Alternative splice isoforms for POLR1E Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for POLR1E Gene

Post-translational modifications for POLR1E Gene

  • Acetylated at Lys-373 by CREBBP/CBP, leading to decreased RNA polymerase I transcription (PubMed:24207024). In normal conditions, deacetylated by SIRT7, promoting the association of RNA polymerase I with the rDNA promoter region and coding region (PubMed:24207024). In response to stress, SIRT7 is released from nucleoli leading to hyperacetylation of POLR1E/PAF53 and decreased association of RNA polymerase I with the rDNA promoter region (PubMed:24207024).
  • Ubiquitination at Lys32 and Lys80
  • Modification sites at PhosphoSitePlus

Other Protein References for POLR1E Gene

Antibodies for research

  • Abcam antibodies for POLR1E

No data available for DME Specific Peptides for POLR1E Gene

Domains & Families for POLR1E Gene

Gene Families for POLR1E Gene

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

Protein Domains for POLR1E Gene

Suggested Antigen Peptide Sequences for POLR1E Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ54187, highly similar to Homo sapiens polymerase (RNA) I associated factor 1 (PRAF1), mRNA (B4DW33_HUMAN)
  • RNA polymerase I-associated factor 53 (RPA49_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9GZS1

UniProtKB/Swiss-Prot:

RPA49_HUMAN :
  • Belongs to the eukaryotic RPA49/POLR1E RNA polymerase subunit family.
Family:
  • Belongs to the eukaryotic RPA49/POLR1E RNA polymerase subunit family.
genes like me logo Genes that share domains with POLR1E: view

Function for POLR1E Gene

Molecular function for POLR1E Gene

UniProtKB/Swiss-Prot Function:
DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase I which synthesizes ribosomal RNA precursors (PubMed:24207024). Appears to be involved in the formation of the initiation complex at the promoter by mediating the interaction between Pol I and UBTF/UBF (PubMed:24207024).

Phenotypes From GWAS Catalog for POLR1E Gene

Gene Ontology (GO) - Molecular Function for POLR1E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001179 RNA polymerase I transcription factor binding IEA --
GO:0003677 DNA binding IEA --
GO:0003899 DNA-directed 5'-3' RNA polymerase activity IEA --
GO:0005515 protein binding IPI 24207024
genes like me logo Genes that share ontologies with POLR1E: view
genes like me logo Genes that share phenotypes with POLR1E: view

Animal Models for POLR1E Gene

MGI Knock Outs for POLR1E:
  • Polr1e Polr1e<tm1a(KOMP)Wtsi>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POLR1E

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for POLR1E Gene

Localization for POLR1E Gene

Subcellular locations from UniProtKB/Swiss-Prot for POLR1E Gene

Nucleus, nucleolus.

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 POLR1E gene
Compartment Confidence
nucleus 5
cytosol 2
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for POLR1E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus ISS --
GO:0005736 RNA polymerase I complex IEA,IBA 21873635
genes like me logo Genes that share ontologies with POLR1E: view

Pathways & Interactions for POLR1E Gene

genes like me logo Genes that share pathways with POLR1E: view

Pathways by source for POLR1E Gene

1 KEGG pathway for POLR1E Gene
1 Qiagen pathway for POLR1E Gene
  • Assembly of RNA Polymerase-I Initiation Complex

Gene Ontology (GO) - Biological Process for POLR1E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001188 RNA polymerase I preinitiation complex assembly IBA 21873635
GO:0006351 transcription, DNA-templated IEA --
GO:0006361 transcription initiation from RNA polymerase I promoter TAS --
GO:0006362 transcription elongation from RNA polymerase I promoter IBA,TAS --
GO:0006363 termination of RNA polymerase I transcription TAS --
genes like me logo Genes that share ontologies with POLR1E: view

No data available for SIGNOR curated interactions for POLR1E Gene

Drugs & Compounds for POLR1E Gene

(5) Drugs for POLR1E Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cytidine triphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
Phosphate Experimental Pharma 0
Uridine triphosphate Experimental, Investigational Pharma 0
ATP Investigational Nutra 0

(1) Additional Compounds for POLR1E Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(HO)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • Pyrophosphoric acid
14000-31-8
genes like me logo Genes that share compounds with POLR1E: view

Transcripts for POLR1E Gene

mRNA/cDNA for POLR1E Gene

2 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POLR1E

Alternative Splicing Database (ASD) splice patterns (SP) for POLR1E Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b
SP1: -
SP2:
SP3:

Relevant External Links for POLR1E Gene

GeneLoc Exon Structure for
POLR1E

Expression for POLR1E Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for POLR1E Gene

Protein differential expression in normal tissues from HIPED for POLR1E Gene

This gene is overexpressed in Lung (25.0), Salivary gland (9.7), Spleen (7.9), and Heart (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for POLR1E Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for POLR1E

SOURCE GeneReport for Unigene cluster for POLR1E Gene:

Hs.591087

Evidence on tissue expression from TISSUES for POLR1E Gene

  • Lung(4.2)
  • Nervous system(3.5)
genes like me logo Genes that share expression patterns with POLR1E: view

Primer products for research

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 POLR1E Gene

Orthologs for POLR1E Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for POLR1E Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia POLR1E 29 30
  • 99.68 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia POLR1E 29 30
  • 89.58 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia POLR1E 29 30
  • 89.02 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Polr1e 29
  • 82.37 (n)
Mouse
(Mus musculus)
Mammalia Polr1e 29 16 30
  • 81.29 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia POLR1E 30
  • 72 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 67 (a)
OneToMany
-- 30
  • 63 (a)
OneToMany
Chicken
(Gallus gallus)
Aves POLR1E 29 30
  • 66.91 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia polr1e 29
  • 61.3 (n)
Str.15195 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.5852 29
Zebrafish
(Danio rerio)
Actinopterygii polr1e 29 30
  • 56.87 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPA49 32 32
Species where no ortholog for POLR1E was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • 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 (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for POLR1E Gene

ENSEMBL:
Gene Tree for POLR1E (if available)
TreeFam:
Gene Tree for POLR1E (if available)
Aminode:
Evolutionary constrained regions (ECRs) for POLR1E: view image
Alliance of Genome Resources:
Additional Orthologs for POLR1E

Paralogs for POLR1E Gene

No data available for Paralogs for POLR1E Gene

Variants for POLR1E Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for POLR1E Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs10814571 -- p.Arg383Lys
rs7863488 -- p.Asp192His
rs7867180 -- p.Val356Met

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for POLR1E Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for POLR1E Gene

Variant ID Type Subtype PubMed ID
dgv274n111 CNV duplication 26073780
esv3302953 CNV tandem duplication 20981092
esv3620409 CNV gain 21293372
nsv1125318 OTHER inversion 24896259
nsv474355 CNV novel sequence insertion 20440878
nsv824923 CNV gain 20364138
nsv982216 CNV duplication 23825009

Variation tolerance for POLR1E Gene

Residual Variation Intolerance Score: 67.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.81; 83.45% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for POLR1E Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
POLR1E
Leiden Open Variation Database (LOVD)
POLR1E

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POLR1E Gene

Disorders for POLR1E Gene

Additional Disease Information for POLR1E

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

No disorders were found for POLR1E Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for POLR1E Gene

Publications for POLR1E Gene

  1. Repression of RNA polymerase I upon stress is caused by inhibition of RNA-dependent deacetylation of PAF53 by SIRT7. (PMID: 24207024) Chen S … Voit R (Molecular cell 2013) 3 4
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4

Products for POLR1E Gene

Sources for POLR1E Gene