Human Gene POLR1E (uc003zzz.1)
  Description: Homo sapiens polymerase (RNA) I polypeptide E, 53kDa (POLR1E), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr9:37,486,150-37,503,693 Size: 17,544 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg19 chr9:37,486,438-37,503,199 Size: 16,762 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:37,486,150-37,503,693)mRNA (may differ from genome)Protein (481 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtPubMedReactomeTreefamUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RPA49_HUMAN
DESCRIPTION: RecName: Full=DNA-directed RNA polymerase I subunit RPA49; Short=RNA polymerase I subunit A49; AltName: Full=DNA-directed RNA polymerase I subunit E; AltName: Full=RNA polymerase I-associated factor 1; AltName: Full=RNA polymerase I-associated factor 53;
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).
SUBUNIT: 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).
SUBCELLULAR LOCATION: Nucleus, nucleolus.
SIMILARITY: Belongs to the eukaryotic RPA49/POLR1E RNA polymerase subunit family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): POLR1E
CDC HuGE Published Literature: POLR1E

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 19.41 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 394.51 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -83.14288-0.289 Picture PostScript Text
3' UTR -161.22494-0.326 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009668 - RNA_pol-assoc_fac_A49-like

Pfam Domains:
PF06870 - A49-like RNA polymerase I associated factor

ModBase Predicted Comparative 3D Structure on Q9GZS1
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologGenome Browser
 Gene Details   Gene Details
 Gene Sorter   Gene Sorter
 RGD   SGD
 Protein Sequence   Protein Sequence
 Alignment   Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001179 RNA polymerase I transcription factor binding
GO:0003677 DNA binding
GO:0003899 DNA-directed 5'-3' RNA polymerase activity
GO:0001054 RNA polymerase I activity

Biological Process:
GO:0001188 RNA polymerase I transcriptional preinitiation complex assembly
GO:0006351 transcription, DNA-templated
GO:0006361 transcription initiation from RNA polymerase I promoter
GO:0006363 termination of RNA polymerase I transcription
GO:0045815 positive regulation of gene expression, epigenetic

Cellular Component:
GO:0001650 fibrillar center
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005736 DNA-directed RNA polymerase I complex


-  Descriptions from all associated GenBank mRNAs
  BC014331 - Homo sapiens polymerase (RNA) I polypeptide E, 53kDa, mRNA (cDNA clone MGC:22869 IMAGE:4042929), complete cds.
AK302345 - Homo sapiens cDNA FLJ60956 complete cds, highly similar to DNA-directed RNA polymerase I-associated factor 53 kDa subunit (EC 2.7.7.6).
AK303167 - Homo sapiens cDNA FLJ54770 complete cds, highly similar to DNA-directed RNA polymerase I-associated factor 53 kDa subunit (EC 2.7.7.6).
AK023452 - Homo sapiens cDNA FLJ13390 fis, clone PLACE1001238, moderately similar to Mouse mRNA for RNA polymerase I associated factor (PAF53).
AK301347 - Homo sapiens cDNA FLJ54187 complete cds, highly similar to Homo sapiens polymerase (RNA) I associated factor 1 (PRAF1), mRNA.
AK024032 - Homo sapiens cDNA FLJ13970 fis, clone Y79AA1001533, moderately similar to Mouse mRNA for RNA polymerase I associated factor (PAF53).
AK225050 - Homo sapiens mRNA for RNA polymerase I associated factor 53 variant, clone: adSE00728.
BC001337 - Homo sapiens polymerase (RNA) I polypeptide E, 53kDa, mRNA (cDNA clone MGC:5609 IMAGE:3461710), complete cds.
CR457313 - Homo sapiens full open reading frame cDNA clone RZPDo834F0113D for gene PAF53, RNA polymerase I associated factor 53; complete cds, incl. stopcodon.
KJ906297 - Synthetic construct Homo sapiens clone ccsbBroadEn_15967 POLR1E gene, encodes complete protein.
AK091294 - Homo sapiens cDNA FLJ33975 fis, clone DFNES2002817, moderately similar to Mouse mRNA for RNA polymerase I associated factor (PAF53).
AX746899 - Sequence 424 from Patent EP1308459.
AB528033 - Synthetic construct DNA, clone: pF1KB0437, Homo sapiens POLR1E gene for polymerase (RNA) I polypeptide E, 53kDa, without stop codon, in Flexi system.
DQ581828 - Homo sapiens piRNA piR-49940, complete sequence.
JD543719 - Sequence 524743 from Patent EP1572962.
JD098245 - Sequence 79269 from Patent EP1572962.
JD182872 - Sequence 163896 from Patent EP1572962.
JD212352 - Sequence 193376 from Patent EP1572962.
JD212353 - Sequence 193377 from Patent EP1572962.
JD197745 - Sequence 178769 from Patent EP1572962.
JD412686 - Sequence 393710 from Patent EP1572962.
JD412687 - Sequence 393711 from Patent EP1572962.
JD512634 - Sequence 493658 from Patent EP1572962.
JD512635 - Sequence 493659 from Patent EP1572962.
JD561355 - Sequence 542379 from Patent EP1572962.
JD127896 - Sequence 108920 from Patent EP1572962.
JD308839 - Sequence 289863 from Patent EP1572962.
JD444201 - Sequence 425225 from Patent EP1572962.
JD135534 - Sequence 116558 from Patent EP1572962.
JD145112 - Sequence 126136 from Patent EP1572962.
JD325409 - Sequence 306433 from Patent EP1572962.
JD533048 - Sequence 514072 from Patent EP1572962.
JD431166 - Sequence 412190 from Patent EP1572962.
JD532777 - Sequence 513801 from Patent EP1572962.
JD444858 - Sequence 425882 from Patent EP1572962.
JD073131 - Sequence 54155 from Patent EP1572962.
JD073132 - Sequence 54156 from Patent EP1572962.
JD201744 - Sequence 182768 from Patent EP1572962.
JD165369 - Sequence 146393 from Patent EP1572962.
JD046133 - Sequence 27157 from Patent EP1572962.
JD114865 - Sequence 95889 from Patent EP1572962.
JD251483 - Sequence 232507 from Patent EP1572962.
JD078435 - Sequence 59459 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00230 - Purine metabolism
hsa00240 - Pyrimidine metabolism
hsa01100 - Metabolic pathways
hsa03020 - RNA polymerase

Reactome (by CSHL, EBI, and GO)

Protein Q9GZS1 (Reactome details) participates in the following event(s):

R-HSA-73865 Assembly of RNA Polymerase I Holoenzyme (human)
R-HSA-73757 Binding of RRN3 to RNA Polymerase I
R-HSA-5250947 B-WICH complex binds rDNA promoter
R-HSA-73758 Recruitment of Active RNA Polymerase I to SL1:phos.UBF-1:rDNA Promoter
R-HSA-74994 Polymerase I Transcription Complex/Nascent Pre rRNA Complex pauses at the TTF-I:Sal Box
R-HSA-73769 Loss of Rrn3 from RNA Polymerase I promoter escape complex
R-HSA-74992 Dissociation of PTRF:Polymerase I/Nascent Pre rRNA Complex:TTF-I:Sal Box
R-HSA-5250930 B-WICH recruits histone acetyltransferases
R-HSA-74993 PTRF Binds the Polymerase I Transcription Complex/Nascent Pre rRNA Complex paused at the TTF-I:Sal Box
R-HSA-74986 Elongation of pre-rRNA transcript
R-HSA-427366 Transcription of intergenic spacer of the rRNA gene
R-HSA-5250938 B-WICH:histone acetyltransferase acetylates histone H3 at lysine-9
R-HSA-73762 RNA Polymerase I Transcription Initiation
R-HSA-5250924 B-WICH complex positively regulates rRNA expression
R-HSA-73854 RNA Polymerase I Promoter Clearance
R-HSA-73863 RNA Polymerase I Transcription Termination
R-HSA-73772 RNA Polymerase I Promoter Escape
R-HSA-5250913 Positive epigenetic regulation of rRNA expression
R-HSA-73864 RNA Polymerase I Transcription
R-HSA-73777 RNA Polymerase I Chain Elongation
R-HSA-427413 NoRC negatively regulates rRNA expression
R-HSA-212165 Epigenetic regulation of gene expression
R-HSA-74160 Gene expression (Transcription)
R-HSA-5250941 Negative epigenetic regulation of rRNA expression

-  Other Names for This Gene
  Alternate Gene Symbols: AB528033, NM_022490, NP_071935, PAF53, PRAF1, Q5VZT3, Q8NBA9, Q96L20, Q9GZS1, RPA49_HUMAN
UCSC ID: uc003zzz.1
RefSeq Accession: NM_022490
Protein: Q9GZS1 (aka RPA49_HUMAN)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AB528033.1
exon count: 11CDS single in 3' UTR: no RNA size: 1460
ORF size: 1446CDS single in intron: no Alignment % ID: 99.58
txCdsPredict score: 2706.00frame shift in genome: no % Coverage: 98.84
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 550# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.