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POLR1A (RNA polymerase I subunit A)

Identity

Alias_namespolymerase (RNA) I polypeptide A, 194kDa
Alias_symbol (synonym)DKFZP586M0122
FLJ21915
RPO1-4
RPA1
Other aliasA190
AFDCIN
RPA194
RPO14
HGNC (Hugo) POLR1A
LocusID (NCBI) 25885
Atlas_Id 72047
Location 2p11.2  [Link to chromosome band 2p11]
Location_base_pair Starts at 86024446 and ends at 86106155 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
METTL17 (14q11.2) / POLR1A (2p11.2)POLR1A (2p11.2) / AFF3 (2q11.2)POLR1A (2p11.2) / CCT3 (1q22)
POLR1A (2p11.2) / PILRA (7q22.1)POLR1A (2p11.2) / REEP1 (2p11.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)POLR1A   17264
Cards
Entrez_Gene (NCBI)POLR1A  25885  RNA polymerase I subunit A
AliasesA190; AFDCIN; RPA1; RPA194; 
RPO1-4; RPO14
GeneCards (Weizmann)POLR1A
Ensembl hg19 (Hinxton)ENSG00000068654 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000068654 [Gene_View]  chr2:86024446-86106155 [Contig_View]  POLR1A [Vega]
ICGC DataPortalENSG00000068654
TCGA cBioPortalPOLR1A
AceView (NCBI)POLR1A
Genatlas (Paris)POLR1A
WikiGenes25885
SOURCE (Princeton)POLR1A
Genetics Home Reference (NIH)POLR1A
Genomic and cartography
GoldenPath hg38 (UCSC)POLR1A  -     chr2:86024446-86106155 -  2p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)POLR1A  -     2p11.2   [Description]    (hg19-Feb_2009)
EnsemblPOLR1A - 2p11.2 [CytoView hg19]  POLR1A - 2p11.2 [CytoView hg38]
Mapping of homologs : NCBIPOLR1A [Mapview hg19]  POLR1A [Mapview hg38]
OMIM616404   616462   
Gene and transcription
Genbank (Entrez)AH007280 AK025568 AK294447 AK302458 AK304131
RefSeq transcript (Entrez)NM_015425
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)POLR1A
Cluster EST : UnigeneHs.531818 [ NCBI ]
CGAP (NCI)Hs.531818
Alternative Splicing GalleryENSG00000068654
Gene ExpressionPOLR1A [ NCBI-GEO ]   POLR1A [ EBI - ARRAY_EXPRESS ]   POLR1A [ SEEK ]   POLR1A [ MEM ]
Gene Expression Viewer (FireBrowse)POLR1A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)25885
GTEX Portal (Tissue expression)POLR1A
Human Protein AtlasENSG00000068654-POLR1A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95602   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO95602  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO95602
Splice isoforms : SwissVarO95602
Catalytic activity : Enzyme2.7.7.6 [ Enzyme-Expasy ]   2.7.7.62.7.7.6 [ IntEnz-EBI ]   2.7.7.6 [ BRENDA ]   2.7.7.6 [ KEGG ]   
PhosPhoSitePlusO95602
Domains : Interpro (EBI)DNA-dir_RNA_pol1_lsu    RNA_pol_asu    RNA_pol_N    RNA_pol_Rpb1_1    RNA_pol_Rpb1_3    RNA_pol_Rpb1_4    RNA_pol_Rpb1_5   
Domain families : Pfam (Sanger)RNA_pol_Rpb1_1 (PF04997)    RNA_pol_Rpb1_2 (PF00623)    RNA_pol_Rpb1_3 (PF04983)    RNA_pol_Rpb1_4 (PF05000)    RNA_pol_Rpb1_5 (PF04998)   
Domain families : Pfam (NCBI)pfam04997    pfam00623    pfam04983    pfam05000    pfam04998   
Domain families : Smart (EMBL)RPOLA_N (SM00663)  
Conserved Domain (NCBI)POLR1A
DMDM Disease mutations25885
Blocks (Seattle)POLR1A
SuperfamilyO95602
Human Protein Atlas [tissue]ENSG00000068654-POLR1A [tissue]
Peptide AtlasO95602
HPRD10161
IPIIPI00031960   IPI00916060   IPI00926814   
Protein Interaction databases
DIP (DOE-UCLA)O95602
IntAct (EBI)O95602
FunCoupENSG00000068654
BioGRIDPOLR1A
STRING (EMBL)POLR1A
ZODIACPOLR1A
Ontologies - Pathways
QuickGOO95602
Ontology : AmiGORNA polymerase I activity  DNA binding  chromatin binding  protein binding  nucleoplasm  DNA-directed RNA polymerase I complex  transcription initiation from RNA polymerase I promoter  transcription elongation from RNA polymerase I promoter  termination of RNA polymerase I transcription  zinc ion binding  positive regulation of gene expression, epigenetic  negative regulation of protein localization to nucleolus  
Ontology : EGO-EBIRNA polymerase I activity  DNA binding  chromatin binding  protein binding  nucleoplasm  DNA-directed RNA polymerase I complex  transcription initiation from RNA polymerase I promoter  transcription elongation from RNA polymerase I promoter  termination of RNA polymerase I transcription  zinc ion binding  positive regulation of gene expression, epigenetic  negative regulation of protein localization to nucleolus  
Pathways : BIOCARTATumor Suppressor Arf Inhibits Ribosomal Biogenesis [Genes]   
Pathways : KEGGPurine metabolism    Pyrimidine metabolism    RNA polymerase   
NDEx NetworkPOLR1A
Atlas of Cancer Signalling NetworkPOLR1A
Wikipedia pathwaysPOLR1A
Orthology - Evolution
OrthoDB25885
GeneTree (enSembl)ENSG00000068654
Phylogenetic Trees/Animal Genes : TreeFamPOLR1A
HOVERGENO95602
HOGENOMO95602
Homologs : HomoloGenePOLR1A
Homology/Alignments : Family Browser (UCSC)POLR1A
Gene fusions - Rearrangements
Tumor Fusion PortalPOLR1A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPOLR1A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)POLR1A
dbVarPOLR1A
ClinVarPOLR1A
1000_GenomesPOLR1A 
Exome Variant ServerPOLR1A
ExAC (Exome Aggregation Consortium)ENSG00000068654
GNOMAD BrowserENSG00000068654
Genetic variants : HAPMAP25885
Genomic Variants (DGV)POLR1A [DGVbeta]
DECIPHERPOLR1A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPOLR1A 
Mutations
ICGC Data PortalPOLR1A 
TCGA Data PortalPOLR1A 
Broad Tumor PortalPOLR1A
OASIS PortalPOLR1A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPOLR1A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPOLR1A
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch POLR1A
DgiDB (Drug Gene Interaction Database)POLR1A
DoCM (Curated mutations)POLR1A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)POLR1A (select a term)
intoGenPOLR1A
Cancer3DPOLR1A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616404    616462   
Orphanet1451   
DisGeNETPOLR1A
MedgenPOLR1A
Genetic Testing Registry POLR1A
NextProtO95602 [Medical]
TSGene25885
GENETestsPOLR1A
Target ValidationPOLR1A
Huge Navigator POLR1A [HugePedia]
snp3D : Map Gene to Disease25885
BioCentury BCIQPOLR1A
ClinGenPOLR1A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD25885
Chemical/Pharm GKB GenePA134891380
Clinical trialPOLR1A
Miscellaneous
canSAR (ICR)POLR1A (select the gene name)
Probes
Litterature
PubMed42 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePOLR1A
EVEXPOLR1A
GoPubMedPOLR1A
iHOPPOLR1A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 13:06:03 CET 2017

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