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POLR3A Gene

protein-coding   GIFtS: 65
GCID: GC10M079729

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

  See POLR3A-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Polymerase (RNA) III (DNA Directed) Polypeptide A, 155kDa1 2     EC 2.7.7.63 8
RPC1552 3 5     ADDH2 5
DNA-Directed RNA Polymerase III Largest Subunit2 3     HLD72 5
DNA-Directed RNA Polymerase III Subunit A2 3     RPC12 5
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include chromatin binding and RNA polymerase III activity. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000010.10  NT_030059.14  NC_018921.2  
Regulatory elements:
   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 Chromatin IP Primers for POLR3A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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)
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: 

  • Ubiquitination2 at Lys228, Lys406, Lys1013, Lys1242
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for POLR3A (O14802) (see all 21)
     NLSGKRV  LGIEAAR  GREGLVD  LASFEKT 


    See POLR3A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_008986.2  
    ENSEMBL proteins: 
     ENSP00000361446   ENSP00000473389  
    Reactome Protein details: O14802

    POLR3A Human Recombinant Protein Products:

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    antibodies-online peptides for POLR3A

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    antibodies-online antibodies for POLR3A (21 products) 

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    antibodies-online kits for POLR3A (6 products) 


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

    Selected InterPro protein domains (see all 7):
     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


    Find genes that share domains with POLR3A           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (see all 7):    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 ----
         
    Find genes that share ontologies with POLR3A           About GenesLikeMe


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

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for POLR3A

    miRNA
    Products:
        
    miRTarBase miRNAs that target POLR3A:
    hsa-mir-10a-5p (MIRT047708), hsa-mir-769-3p (MIRT039125), hsa-mir-92a-3p (MIRT049495), hsa-mir-16-5p (MIRT031770)

    Block miRNA regulation of human, mouse, rat POLR3A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate POLR3A (see all 12):
    hsa-miR-607 hsa-miR-4328 hsa-miR-7-2* hsa-miR-3926 hsa-miR-214 hsa-miR-149 hsa-miR-7-1* hsa-miR-558
    SwitchGear 3'UTR luciferase reporter plasmidPOLR3A 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat POLR3A

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    In Situ Assay
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RPC1_HUMAN, O14802: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005654nucleoplasm TAS--
    GO:0005666DNA-directed RNA polymerase III complex IDA--
    GO:0005829cytosol TAS--

    Find genes that share ontologies with POLR3A           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for POLR3A About   (see all 8)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1RNA Polymerase III Transcription Initiation
    RNA Polymerase III Transcription Initiation0.88
    RNA Polymerase III Transcription Initiation From Type 2 Promoter0.74
    RNA Polymerase III Abortive And Retractive Initiation0.88
    RNA Polymerase III Transcription Termination0.58
    RNA Polymerase III Transcription0.88
    RNA polymerase0.45
    RNA Polymerase III Transcription Initiation From Type 3 Promoter0.80
    RNA Polymerase III Chain Elongation0.00
    2Purine metabolism (KEGG)
    Purine metabolism0.38
    ATP ITP metabolism0.31
    Pyrimidine metabolism0.38
    3Cytosolic sensors of pathogen-associated DNA
    Cytosolic sensors of pathogen-associated DNA0.38
    Cytosolic DNA-sensing pathway0.33
    4RNA Polymerase I Promoter Opening
    RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription0.73
    5Gene Expression
    Gene Expression0.40


    Find genes that share SuperPaths with POLR3A           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for POLR3A
        Transcription of tRNA
    Assembly of RNA Polymerase-III Initiation Complex

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

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

    Selected Reactome Pathways for POLR3A (see all 7)
        RNA Polymerase III Transcription Initiation From Type 3 Promoter
    RNA Polymerase III Transcription Initiation From Type 1 Promoter
    Cytosolic sensors of pathogen-associated DNA
    RNA Polymerase III Chain Elongation
    RNA Polymerase III Transcription Termination


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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for POLR3A
    Interactions:

        Search GeneGlobe Interaction Network for POLR3A

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

    Selected Interacting proteins for POLR3A (O148023 ENSP000003614464) via UniProtKB, MINT, STRING, and/or I2D (see all 386)
    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): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated 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--

    Find genes that share ontologies with POLR3A           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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--



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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

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    hsa-miR-607 hsa-miR-4328 hsa-miR-7-2* hsa-miR-3926 hsa-miR-214 hsa-miR-149 hsa-miR-7-1* hsa-miR-558
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      QuantiTect SYBR Green Assays in human, mouse, rat POLR3A
      QuantiFast Probe-based Assays in human, mouse, rat POLR3A

    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 

    Selected AceView cDNA sequences (see all 160):

    BU147143 BQ070943 AU122340 BQ056867 BC014399 BC041089 BU184092 CR610303 
    BQ065577 AA459392 BU931729 CA449326 CA431596 BE253107 AK026023 BM702839 
    BF437850 AI304966 BU656975 BM564798 AI587007 BG057705 D12160 BU148866 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    POLR3A expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 2) fully expand
     
     Ovary (Reproductive System)
             Primary Oocyte Primary Follicle
     
     Gonad
             Primary Oocyte Primary Follicle
    POLR3A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    POLR3A Protein Expression

    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
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    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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for POLR3A gene from Selected 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 polr3a1 polymerase (RNA) III (DNA directed) polypeptide A 77.57(n)
    90.27(a)
      572258  NM_001276496.1  NP_001263425.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG172091 CG17209 59.38(n)
    57.94(a)
      32524  NM_001103517.2  NP_001096987.2 
    worm
    (Caenorhabditis elegans)
    Secernentea rpc-11 rpc-1 56.83(n)
    58.36(a)
      177491  NM_068726.4  NP_501127.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RPO31(YOR116C)4
    RPO311
    RNA polymerase III largest subunit C160, part of core more4
    RPO311
    54.26(n)1
    54.04(a)1
      15(544145-539763)4
    8542831, 4  NP_014759.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons NRPC11 NRPC1 53.5(n)
    50.76(a)
      836126  NM_125397.2  NP_200812.2 
    rice
    (Oryza sativa)
    Liliopsida Os04g04923001 Os04g0492300 53.64(n)
    50.93(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)
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    Paralogs for POLR3A gene
    POLR2A2  
    1 SIMAP similar gene for POLR3A using alignment to 3 protein entries:     RPC1_HUMAN (see all proteins):
    POLR2A

    Find genes that share paralogs with POLR3A           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for POLR3A (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
    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 614258   
    OMIM disorders: 607694  
    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

  • 1 disease for POLR3A:    
    About MalaCards
    pol iii-related leukodystrophies

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

    Find genes that share disorders with POLR3A           About GenesLikeMe

    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)
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    PubMed articles for POLR3A gene, integrated from 10 sources (see all 40):
    (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. (Mol. Cell. Biol. 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. (Genome Res. 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. (Am. J. Hum. Genet. 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. (Am. J. Hum. Genet. 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. (Mol. Med. 2010)
    6. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 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. (Nat. Immunol. 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. (Arthritis Rheum. 2002)
    9. Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism. (PubMed id 23355746)1 Daoud H....Bernard G. (J. Med. Genet. 2013)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 11128 HGNC: 30074 AceView: POLR3A Ensembl:ENSG00000148606 euGenes: HUgn11128
    ECgene: POLR3A Kegg: 11128 H-InvDB: POLR3A

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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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