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Aliases for POLR1E Gene

Aliases for POLR1E Gene

  • Polymerase (RNA) I Subunit E 2 3
  • 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
  • Polymerase (RNA) I Polypeptide E 3 5
  • RNA Polymerase I Subunit A49 3 4
  • PRAF1 3 4
  • PAF53 3 4
  • RNA Polymerase I Associated Factor 53 2
  • RNA Polymerase I-Associated Factor 1 4

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 (Polymerase (RNA) I Subunit E) is a Protein Coding gene. Among its related pathways are Metabolism and Pyrimidine metabolism (KEGG). GO annotations related to this gene include DNA-directed 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 , 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around POLR1E on UCSC Golden Path with GeneCards custom track

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

Proteomics data for POLR1E Gene at MOPED

Post-translational modifications for POLR1E Gene

  • Ubiquitination at Lys 142 and Lys 32
  • 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:0001054 contributes_to RNA polymerase I activity IBA --
genes like me logo Genes that share ontologies with POLR1E: view

Phenotypes for POLR1E Gene

MGI mutant phenotypes for POLR1E:
inferred from 1 alleles
GenomeRNAi human phenotypes for POLR1E:
genes like me logo Genes that share phenotypes with POLR1E: view

Animal Models for POLR1E Gene

MGI Knock Outs for POLR1E:

Animal Model 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
Jensen Localization Image for POLR1E Gene 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:0005736 DNA-directed RNA polymerase I complex IBA --
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
Adenosine triphosphate Approved Nutra 0
Cytidine triphosphate Experimental Pharma 0
Diphosphate 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
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
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:

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 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, MOPED, and MaxQB for POLR1E Gene



SOURCE GeneReport for Unigene cluster for POLR1E Gene Hs.591087

genes like me logo Genes that share expression patterns with POLR1E: 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 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
cow
(Bos Taurus)
Mammalia POLR1E 35
  • 89.02 (n)
  • 87.11 (a)
POLR1E 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia POLR1E 35
  • 89.58 (n)
  • 88.07 (a)
POLR1E 36
  • 73 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Polr1e 35
  • 81.29 (n)
  • 77.59 (a)
Polr1e 16
Polr1e 36
  • 74 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia POLR1E 35
  • 99.68 (n)
  • 99.76 (a)
POLR1E 36
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Polr1e 35
  • 82.37 (n)
  • 78.61 (a)
oppossum
(Monodelphis domestica)
Mammalia POLR1E 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 63 (a)
OneToMany
-- 36
  • 67 (a)
OneToMany
chicken
(Gallus gallus)
Aves POLR1E 35
  • 66.91 (n)
  • 61.17 (a)
POLR1E 36
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia polr1e 35
  • 61.3 (n)
  • 53.17 (a)
Str.15195 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.5852 35
zebrafish
(Danio rerio)
Actinopterygii polr1e 35
  • 56.87 (n)
  • 43.97 (a)
polr1e 36
  • 41 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPA49 38
Species with no ortholog for POLR1E:
  • 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
rs7863488 - 37,495,195(+) ACAAT(C/G)ACTTG reference, missense
rs7867180 - 37,501,810(+) TGACA(A/G)TGTTA reference, missense
rs10814571 - 37,503,090(+) AAGAA(A/G)GGTGT reference, missense
rs731993 -- 37,487,129(+) ttttg(A/G)gccaa intron-variant
rs753968 -- 37,502,419(-) CCAGT(C/T)GGGTC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv893059 CNV Gain 21882294
esv259927 OTHER Complex 20981092
nsv824923 CNV Gain 20364138

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

HapMap Linkage Disequilibrium report
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 48 67
  2. 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 23
  3. RNA polymerase I associated factor 53 binds to the nucleolar transcription factor UBF and functions in specific rDNA transcription. (PMID: 8641287) Hanada K. … Muramatsu M. (EMBO J. 1996) 2 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3

Products for POLR1E Gene

Sources for POLR1E Gene

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