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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

POLR3A Gene

protein-coding   GIFtS: 64
GCID: GC10M079729

Polymerase (RNA) III (DNA Directed) Polypeptide A, 155kDa

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Polymerase (RNA) III (DNA Directed) Polypeptide A, 155kDa1 2     EC 2.7.7.63 8
RPC1552 3     ADDH2
DNA-Directed RNA Polymerase III Largest Subunit2 3     HLD72
DNA-Directed RNA Polymerase III Subunit A2 3     RPC12
RNA Polymerase III 155 KDa Subunit2 3     DNA-Directed RNA Polymerase III Subunit RPC12
RNA Polymerase III Subunit C12 3     hRPC1552
RNA Polymerase III Subunit C1602 3     RNA Polymerase III Subunit RPC155-D2

External Ids:    HGNC: 300741   Entrez Gene: 111282   Ensembl: ENSG000001486067   OMIM: 6142585   UniProtKB: O148023   

Export aliases for POLR3A gene to outside databases

Previous GC identifers: GC10M079405 GC10M073729


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for POLR3A Gene:
The protein encoded by this gene is the catalytic component of RNA polymerase III, which synthesizes small RNAs.
The encoded protein also acts as a sensor to detect foreign DNA and trigger an innate immune response. (provided
by RefSeq, Aug 2011)

GeneCards Summary for POLR3A Gene: 
POLR3A (polymerase (RNA) III (DNA directed) polypeptide A, 155kDa) is a protein-coding gene. Diseases associated with POLR3A include pol iii-related leukodystrophies, and hypogonadotropism, and among its related super-pathways are RNA Polymerase III Transcription Initiation and Purine metabolism. GO annotations related to this gene include chromatin binding and ribonucleoside binding. An important paralog of this gene is POLR2A.

UniProtKB/Swiss-Prot: RPC1_HUMAN, O14802
Function: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside
triphosphates as substrates. Largest and catalytic core component of RNA polymerase III which synthesizes small
RNAs, such as 5S rRNA and tRNAs. Forms the polymerase active center together with the second largest subunit. A
single stranded DNA template strand of the promoter is positioned within the central active site cleft of Pol
III. A bridging helix emanates from RPC1 and crosses the cleft near the catalytic site and is thought to promote
translocation of Pol III by acting as a ratchet that moves the RNA-DNA hybrid through the active site by
switching from straight to bent conformations at each step of nucleotide addition (By similarity). Plays a key
role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic
DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription
into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce
type I interferon and NF- Kappa-B through the RIG-I pathway




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.2  NT_030059.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the POLR3A gene promoter:
         C/EBPbeta   AML1a   Egr-1   FOXD1   CUTL1   Ik-3   POU3F2   RORalpha1   Nkx6-1   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPOLR3A promoter sequence
   Search SABiosciences Chromatin IP Primers for POLR3A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat POLR3A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q22-q23   Ensembl cytogenetic band:  10q22.3   HGNC cytogenetic band: 10q22-q23

POLR3A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
POLR3A gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M079729:  view genomic region     (about GC identifiers)

Start:
79,734,907 bp from pter      End:
79,789,303 bp from pter
Size:
54,397 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: RPC1_HUMAN, O14802 (See protein sequence)
Recommended Name: DNA-directed RNA polymerase III subunit RPC1  
Size: 1390 amino acids; 155641 Da
Subunit: Component of the RNA polymerase III (Pol III) complex consisting of 17 subunits (By similarity)
Subcellular location: Nucleus
Secondary accessions: Q8IW34 Q8TCW5

Explore the universe of human proteins at neXtProt for POLR3A: NX_O14802

Explore proteomics data for POLR3A at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O14802

  • 4/21 DME Specific Peptides for POLR3A (O14802) (see all 21)
     NLSGKRV  LGIEAAR  GREGLVD  LASFEKT 

    POLR3A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    POLR3A Protein Expression
    REFSEQ proteins: NP_008986.2  
    ENSEMBL proteins: 
     ENSP00000361446   ENSP00000473389  
    Reactome Protein details: O14802
    Human Recombinant Protein Products for POLR3A: 
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    Cloud-Clone Corp. Proteins for POLR3A 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005666DNA-directed RNA polymerase III complex NAS--
    GO:0005730NOT nucleolus IDA--
    GO:0005829cytosol TAS--

    POLR3A for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    POLR: RNA polymerase subunits

    5/8 InterPro protein domains (see all 8):
     IPR006592 RNA_pol_N
     IPR007080 RNA_pol_Rpb1_1
     IPR007066 RNA_pol_Rpb1_3
     IPR007083 RNA_pol_Rpb1_4
     IPR000722 RNA_pol_asu

    Graphical View of Domain Structure for InterPro Entry O14802

    ProtoNet protein and cluster: O14802

    2 Blocks protein domains:
    IPB006592 RNA polymerase I subunit A
    IPB007083 RNA polymerase Rpb1


    UniProtKB/Swiss-Prot: RPC1_HUMAN, O14802
    Similarity: Belongs to the RNA polymerase beta' chain family


    POLR3A for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RPC1_HUMAN, O14802
    Function: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside
    triphosphates as substrates. Largest and catalytic core component of RNA polymerase III which synthesizes small
    RNAs, such as 5S rRNA and tRNAs. Forms the polymerase active center together with the second largest subunit. A
    single stranded DNA template strand of the promoter is positioned within the central active site cleft of Pol
    III. A bridging helix emanates from RPC1 and crosses the cleft near the catalytic site and is thought to promote
    translocation of Pol III by acting as a ratchet that moves the RNA-DNA hybrid through the active site by
    switching from straight to bent conformations at each step of nucleotide addition (By similarity). Plays a key
    role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic
    DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription
    into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce
    type I interferon and NF- Kappa-B through the RIG-I pathway
    Catalytic activity: Nucleoside triphosphate + RNA(n) = diphosphate + RNA(n+1)

         Enzyme Number (IUBMB): EC 2.7.7.61 2

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001056contributes to RNA polymerase III activity IBA--
    GO:0003677DNA binding IEA--
    GO:0003682chromatin binding IEA--
    GO:0003899DNA-directed RNA polymerase activity NAS9331371
    GO:0008270zinc ion binding IEA--
         
    POLR3A for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for POLR3A:
     Decreased p24 protein expressi  Decreased viability with pacli  Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for POLR3A 
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    SwitchGear 3'UTR luciferase reporter plasmidPOLR3A 3' UTR sequence
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for POLR3A About   (see all 9)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1RNA Polymerase III Transcription Initiation
    RNA Polymerase III Transcription Initiation0.80
    RNA Polymerase III Transcription Initiation From Type 2 Promoter0.74
    RNA Polymerase III Transcription0.80
    RNA Polymerase III Chain Elongation0.69
    RNA Polymerase III Abortive And Retractive Initiation0.80
    RNA Polymerase III Transcription Termination0.69
    RNA Polymerase III Transcription Initiation From Type 3 Promoter0.80
    RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription0.59
    2Purine metabolism
    Purine metabolism0.38
    ATP/ITP metabolism0.31
    Pyrimidine metabolism0.38
    3Cytosolic DNA-sensing pathway
    Cytosolic DNA-sensing pathway0.36
    Cytosolic sensors of pathogen-associated DNA 0.36
    4Immune System
    Immune System0.56
    Innate Immune System0.50
    5Transcription
    Transcription0.69

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for POLR3A
        ATP/ITP metabolism


    1 Cell Signaling Technology (CST) Pathway for POLR3A
        Chromatin Regulation / Acetylation

    1 GeneGo (Thomson Reuters) Pathway for POLR3A
        ATP/ITP metabolism

    5/14        Reactome Pathways for POLR3A (see all 14)
        RNA Polymerase III Transcription Initiation
    RNA Polymerase III Transcription Initiation From Type 3 Promoter
    Cytosolic sensors of pathogen-associated DNA
    RNA Polymerase III Chain Elongation
    Transcription


    5/6         Kegg Pathways  (Kegg details for POLR3A) (see all 6):
        Purine metabolism
    Pyrimidine metabolism
    Metabolic pathways
    RNA polymerase
    Cytosolic DNA-sensing pathway


    POLR3A for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for POLR3A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/214 Interacting proteins for POLR3A (O148023 ENSP000003614464) via UniProtKB, MINT, STRING, and/or I2D (see all 214)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent NAS9331371
    GO:0006383transcription from RNA polymerase III promoter TAS--
    GO:0006385transcription elongation from RNA polymerase III promoter TAS--
    GO:0006386termination of RNA polymerase III transcription TAS--
    GO:0010467gene expression TAS--

    POLR3A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    EMD Millipore small molecules for POLR3A:
    Small Molecule - inhibitor
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    Browse Tocris compounds for POLR3A (RPC1)

    7 HMDB Compounds for POLR3A    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Cytidine triphosphatecytidine 5'-(tetrahydrogen triphosphate) (see all 15)65-47-4--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--
    Thymidine 5'-triphosphate2'-Deoxythymidine 5'-triphosphate (see all 13)365-08-2--
    Uridine triphosphate5'-UTP (see all 7)63-39-8--

    Search CenterWatch for drugs/clinical trials and news about POLR3A / RPC1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for POLR3A gene: 
    NM_007055.3  

    Unigene Cluster for POLR3A:

    Polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
    Hs.436896  [show with all ESTs]
    Unigene Representative Sequence: NM_007055
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000372371(uc001jzn.3) ENST00000472014 ENST00000473588 ENST00000484760

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AF021351.1 AK024744.1 AK026023.1 AK098364.1 AK300329.1 AY091459.1 AY091460.1 AY091461.1 
    AY091462.1 BC014399.1 BC041089.1 

    6 DOTS entries:

    DT.431240  DT.100782139  DT.100782136  DT.121302400  DT.91749488  DT.91860376 

    24/160 AceView cDNA sequences (see all 160):

    BM564798 AU122340 BP336366 AI493702 BG057705 NM_007055 BU147143 AY091462 
    BX464101 CR610303 AL539848 BM702839 AI587007 BM826056 AY091460 AI304966 
    CD642742 BU184092 BM668585 BU656975 AA459392 BU148866 CB153335 BX107784 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    POLR3A expression in normal human tissues (normalized intensities)      POLR3A embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTGTAGTAC
    POLR3A Expression
    About this image


    POLR3A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Primary Oocyte Primary Follicle
             oocyte   
     
     Brain (Nervous System)    fully expand to see all 2 entries
             medial temporal gyrus   
     
     Gonad
             Primary Oocyte Primary Follicle
     
     Blood (Hematopoietic System)
             cmps   

    See POLR3A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for POLR3A

    SOURCE GeneReport for Unigene cluster: Hs.436896

    UniProtKB/Swiss-Prot: RPC1_HUMAN, O14802
    Tissue specificity: Expressed in the brain, in the cortex and the white matter (at protein level)

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POLR3A

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for POLR3A gene from 10/27 species (see all 27)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Polr3a1 , 5 polymerase (RNA) III (DNA directed) polypeptide A1, 5 89.21(n)1
    97.99(a)1
      14 (14.40 cM)5
    2188321  NM_001081247.11  NP_001074716.11 
     244486945 
    chicken
    (Gallus gallus)
    Aves POLR3A1 polymerase (RNA) III (DNA directed) polypeptide A, more 81.8(n)
    96.26(a)
      423727  NM_001006500.1  NP_001006500.1 
    lizard
    (Anolis carolinensis)
    Reptilia POLR3A6
    polymerase (RNA) III (DNA directed) polypeptide A,...
    93(a)
    1 ↔ 1
    GL343196.1(5352906-5398188)
    African clawed frog
    (Xenopus laevis)
    Amphibia rpc155-prov2 polymerase (RNA) III (DNA directed) (155kD) 76.84(n)    BC044092.1 
    zebrafish
    (Danio rerio)
    Actinopterygii im:71393821 im:7139382 77.57(n)
    90.27(a)
      572258  XM_003199668.1  XP_003199716.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG172091 CG17209 59.35(n)
    57.94(a)
      32524  NM_001103517.2  NP_001096987.2 
    worm
    (Caenorhabditis elegans)
    Secernentea rpc-11 Protein RPC-1 56.89(n)
    58.73(a)
      177491  NM_068726.3  NP_501127.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RPO31(YOR116C)4
    RPO311
    RNA polymerase III largest subunit C160, part of core more4
    Rpo31p1
    54.14(n)1
    53.97(a)1
      15(544145-539763)4
    8542831, 4  NP_014759.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons NRPC11 nuclear RNA polymerase C1 53.45(n)
    50.83(a)
      836126  NM_125397.2  NP_200812.2 
    rice
    (Oryza sativa)
    Liliopsida Os04g04923001 hypothetical protein 53.66(n)
    50.96(a)
      4336254  NM_001059710.1  NP_001053175.1 


    ENSEMBL Gene Tree for POLR3A (if available)
    TreeFam Gene Tree for POLR3A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for POLR3A gene
    POLR2A2  
    1 SIMAP similar gene for POLR3A using alignment to 3 protein entries:     RPC1_HUMAN (see all proteins):
    POLR2A

    POLR3A for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1435 SNPs in POLR3A are shown (see all 1435)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0665184
    Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7)4--see VAR_0665182 S Y mis40--------
    VAR_0665174
    Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7)4--see VAR_0665172 F L mis40--------
    VAR_0665164
    Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7)4--see VAR_0665162 D N mis40--------
    VAR_0665224
    Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7)4--see VAR_0665222 M V mis40--------
    VAR_0665234
    Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7)4--see VAR_0665232 R C mis40--------
    VAR_0665194
    Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7)4--see VAR_0665192 G E mis40--------
    VAR_0665204
    Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7)4--see VAR_0665202 C Y mis40--------
    VAR_0670044
    Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7)4--see VAR_0670042 I N mis40--------
    VAR_0665214
    Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7)4--see VAR_0665212 N I mis40--------
    rs2001187971,2
    Cpathogenic180119506(+) TGATGC/TGGTCC 2 H R mis10--------

    HapMap Linkage Disequilibrium report for POLR3A (79734907 - 79789303 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for POLR3A:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2676466CNV Deletion23128226
    nsv7321CNV Insertion18451855
    nsv7310CNV Loss18451855
    nsv895736CNV Gain21882294
    nsv7205OTHER Inversion18451855


    Human Gene Mutation Database (HGMD): POLR3A
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing POLR3A
    DNA2.0 Custom Variant and Variant Library Synthesis for POLR3A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 614258    OMIM disorders: --

    UniProtKB/Swiss-Prot: RPC1_HUMAN, O14802
  • Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
    (HLD7) [MIM:607694]: An autosomal recessive neurodegenerative disorder characterized by childhood onset of
    progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive
    regression. Other features may include hypodontia or oligodontia and hypogonadotropic hypogonadism. There is
    considerable inter- and intrafamilial variability. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 9 diseases for POLR3A:    About MalaCards
    pol iii-related leukodystrophies    hypogonadotropism    klinefelter's syndrome    leukodystrophy
    tremor    hypogonadism    spasticity    ataxia
    tuberculosis

    2 diseases from the University of Copenhagen DISEASES database for POLR3A:
    Klinefelter's syndrome     Leukodystrophy

    POLR3A for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): POLR3A
    Human Genome Epidemiology (HuGE) Navigator: POLR3A (5 documents)

    Export disorders for POLR3A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for POLR3A gene, integrated from 9 sources (see all 39):
    (articles sorted by number of sources associating them with POLR3A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of human RNA polymerase III identifies orthologues for Saccharomyces cerevisiae RNA polymerase III subunits. (PubMed id 12391170)1, 2, 3 Hu P....Hernandez N. (2002)
    2. The largest subunit of human RNA polymerase III is closely related to the largest subunit of yeast and trypanosome RNA polymerase III. (PubMed id 9331371)1, 2, 3 Sepehri S. and Hernandez N. (1997)
    3. Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. (PubMed id 21855841)1, 2 Bernard G.... Brais B. (2011)
    4. Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. (PubMed id 22036171)1, 2 Saitsu H.... Matsumoto N. (2011)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    6. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    7. RIG-I-dependent sensing of poly(dA:dT) through the induction of an RNA polymerase III-transcribed RNA intermediate. (PubMed id 19609254)1, 2 Ablasser A....Hornung V. (2009)
    8. Identification of an immunodominant epitope on RNA polymerase III recognized by systemic sclerosis sera: application to enzyme-linked immunosorbent assay. (PubMed id 12384934)1, 2 Kuwana M.... Kawakami Y. (2002)
    9. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    10. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 11128 HGNC: 30074 AceView: POLR3A Ensembl:ENSG00000148606 euGenes: HUgn11128
    ECgene: POLR3A Kegg: 11128 H-InvDB: POLR3A

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for POLR3A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for POLR3A gene:
    Search GeneIP for patents involving POLR3A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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