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Aliases for POLR1E Gene

Aliases for POLR1E Gene

  • RNA Polymerase I Subunit E 2 3 5
  • 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
  • PAF53 3 4
  • DNA-Directed RNA Polymerase I Subunit RPA49 3
  • RNA Polymerase I Associated Factor 53 2
  • RNA Polymerase I-Associated Factor 1 4
  • Polymerase (RNA) I Subunit E 3

External Ids for POLR1E Gene

Previous HGNC Symbols for POLR1E Gene

  • PRAF1

Previous GeneCards Identifiers for POLR1E Gene

  • GC09P037477
  • GC09P037437

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 RNA Polymerase I Promoter Escape and Assembly of RNA Polymerase-I Initiation Complex. GO annotations related to this gene include DNA-directed 5-3 RNA polymerase activity and RNA polymerase I transcription factor binding.

UniProtKB/Swiss-Prot 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. Appears to be involved in the formation of the initiation complex at the promoter by mediating the interaction between Pol I and UBTF/UBF (By similarity).

Gene Wiki entry for POLR1E Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POLR1E Gene

Genomics for POLR1E Gene

Regulatory Elements for POLR1E Gene

Enhancers for POLR1E 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
GH09G037485 1.3 ENCODE dbSUPER 30.9 +0.9 866 3.5 HDGF PKNOX1 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 RPL21P83 POLR1E ZBTB5 EXOSC3 FBXO10 ENSG00000234160 ENSG00000256966 TOMM5 FRMPD1 GRHPR
GH09G037501 0.7 ENCODE 30.5 +17.5 17547 3.8 MAX RAD21 YY1 RARA POLR2A NR2F6 HLF CEBPB GABPA NR2F2 RPL21P83 POLR1E FBXO10 ZBTB5 PIR42939 PIR55770
GH09G037573 1 ENCODE 14.7 +89.8 89810 3.6 FOXA2 ARNT ARID4B SIN3A GLIS2 ZNF143 ZNF207 KAT8 SMARCA4 MXD3 FBXO10 POLR1E ZBTB5 GC09M037564
GH09G037602 0.8 ENCODE 15.2 +117.0 117014 1.0 NFIB ZBTB21 MAX RAD21 YY1 CTBP1 HNF4G NFIA ZFP37 CEBPB POLR1E FRMPD1 TOMM5
GH09G037617 0.8 Ensembl ENCODE 14.7 +133.0 133015 3.5 OSR2 FEZF1 SP7 EZH2 POLR1E RPL21P83 GC09M037636 FRMPD1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around POLR1E on UCSC Golden Path with GeneCards custom track

Promoters for POLR1E Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000234869 165 1001 HDGF PKNOX1 MLX CREB3L1 ARNT ARID4B SIN3A DMAP1 YY1 ZNF143

Genomic Location for POLR1E Gene

Chromosome:
9
Start:
37,485,935 bp from pter
End:
37,503,697 bp from pter
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:
    481 amino acids
    Molecular mass:
    53962 Da
    Quaternary structure:
    • Component of the RNA polymerase I (Pol I) complex consisting of at least 13 subunits (By similarity). Interacts with PAF49/CD3EAP. Also binds UBTF/UBF (By similarity).

    Alternative splice isoforms for POLR1E Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for POLR1E Gene

Post-translational modifications for POLR1E Gene

  • Ubiquitination at posLast=142142 and Lys32
  • Modification sites at PhosphoSitePlus

Other Protein References for POLR1E Gene

No data available for DME Specific Peptides for POLR1E Gene

Domains & Families for POLR1E Gene

Gene Families for POLR1E Gene

Protein Domains for POLR1E Gene

InterPro:
ProtoNet:

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. Appears to be involved in the formation of the initiation complex at the promoter by mediating the interaction between Pol I and UBTF/UBF (By similarity).

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 --
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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

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

Gene Ontology (GO) - Cellular Components for POLR1E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IEA,ISS --
GO:0005736 DNA-directed RNA polymerase I complex IEA --
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

Gene Ontology (GO) - Biological Process for POLR1E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001189 RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript IEA --
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 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
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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
genes like me logo Genes that share compounds with POLR1E: view

Transcripts for POLR1E Gene

Unigene Clusters for POLR1E Gene

Polymerase (RNA) I polypeptide E, 53kDa:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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
ECgene alternative splicing isoforms for
POLR1E

Expression for POLR1E Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for POLR1E Gene



NURSA nuclear receptor signaling pathways regulating expression of POLR1E Gene:

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

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 34 35
  • 99.68 (n)
dog
(Canis familiaris)
Mammalia POLR1E 34 35
  • 89.58 (n)
cow
(Bos Taurus)
Mammalia POLR1E 34 35
  • 89.02 (n)
rat
(Rattus norvegicus)
Mammalia Polr1e 34
  • 82.37 (n)
mouse
(Mus musculus)
Mammalia Polr1e 34 16 35
  • 81.29 (n)
oppossum
(Monodelphis domestica)
Mammalia POLR1E 35
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 67 (a)
OneToMany
-- 35
  • 63 (a)
OneToMany
chicken
(Gallus gallus)
Aves POLR1E 34 35
  • 66.91 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia polr1e 34
  • 61.3 (n)
Str.15195 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.5852 34
zebrafish
(Danio rerio)
Actinopterygii polr1e 34 35
  • 56.87 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPA49 37
Species where no ortholog for POLR1E 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)
  • 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 squirt (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)

Paralogs for POLR1E Gene

No data available for Paralogs for POLR1E Gene

Variants for POLR1E Gene

Sequence variations from dbSNP and Humsavar for POLR1E Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1000123363 -- 37,485,963(+) CCGCA(G/T)CGCGG upstream-variant-2KB, utr-variant-5-prime
rs1000237209 -- 37,485,806(+) TGCAC(A/C/G)CGAGC upstream-variant-2KB
rs1000290046 -- 37,497,819(+) GAGTA(C/T)AGTGG intron-variant
rs1000393787 -- 37,497,490(+) CAAAC(C/T)ACAGC intron-variant
rs1000446680 -- 37,503,558(+) GGGTC(A/C)CAGAG utr-variant-3-prime

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)

Relevant External Links for POLR1E Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
POLR1E

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

Disorders for POLR1E Gene

Relevant External Links for POLR1E

Genetic Association Database (GAD)
POLR1E
Human Genome Epidemiology (HuGE) Navigator
POLR1E
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
POLR1E

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. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Multiple protein-protein interactions by RNA polymerase I-associated factor PAF49 and role of PAF49 in rRNA transcription. (PMID: 15226435) Yamamoto K. … Muramatsu M. (Mol. Cell. Biol. 2004) 3 22 64

Products for POLR1E Gene

Sources for POLR1E Gene

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