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POLR1C Gene

protein-coding   GIFtS: 61
GCID: GC06P043484

Polymerase (RNA) I Polypeptide C, 30kDa

  See POLR1C-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)
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Aliases
Polymerase (RNA) I Polypeptide C, 30kDa1 2     RNA Polymerases I And III Subunit AC12 3
RPA392 3 5     RPA52 5
RPA402 3 5     RPAC12 5
AC402 3     TCS32 5
RPC402 3     DNA-Directed RNA Polymerases I And III Subunit RPAC12
DNA-Directed RNA Polymerase I Subunit C2 3     POLR1E3
DNA-Directed RNA Polymerases I And III 40 KDa Polypeptide2 3     

External Ids:    HGNC: 201941   Entrez Gene: 95332   Ensembl: ENSG000001714537   OMIM: 6100605   UniProtKB: O151603   

Export aliases for POLR1C gene to outside databases

Previous GC identifers: GC06P043481 GC06P043531 GC06P043592 GC06P043202


(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 POLR1C Gene:
The protein encoded by this gene is a subunit of both RNA polymerase I and RNA polymerase III complexes. The
encoded protein is part of the Pol core element. Defects in this gene have been associated with Treacher Collins
syndrome (TCS). (provided by RefSeq, Mar 2011)

GeneCards Summary for POLR1C Gene:
POLR1C (polymerase (RNA) I polypeptide C, 30kDa) is a protein-coding gene. Diseases associated with POLR1C include polr1c-related treacher collins syndrome, and treacher collins syndrome 3. GO annotations related to this gene include protein dimerization activity and RNA polymerase I activity.

UniProtKB/Swiss-Prot: RPAC1_HUMAN, O15160
Function: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside
triphosphates as substrates. Common component of RNA polymerases I and III which synthesize ribosomal RNA
precursors and small RNAs, such as 5S rRNA and tRNAs, respectively. RPAC1 is part of the Pol core element with
the central large cleft and probably a clamp element that moves to open and close the cleft (By similarity)

Gene Wiki entry for POLR1C Gene


(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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Regulatory elements:
   Regulatory transcription factor binding sites in the POLR1C gene promoter:
         GR   SRF   RP58   GR-beta   RREB-1   SRF (504 AA)   FOXD1   CUTL1   STAT3   c-Myb   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPOLR1C promoter sequence
   Search Chromatin IP Primers for POLR1C

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat POLR1C


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

Entrez Gene cytogenetic band: 6p21.1   Ensembl cytogenetic band:  6p21.1   HGNC cytogenetic band: 6p21.1

POLR1C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
POLR1C gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P043484:  view genomic region     (about GC identifiers)

Start:
43,477,440 bp from pter      End:
43,497,323 bp from pter
Size:
19,884 bases      Orientation:
plus 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: RPAC1_HUMAN, O15160 (See protein sequence)
Recommended Name: DNA-directed RNA polymerases I and III subunit RPAC1  
Size: 346 amino acids; 39250 Da
Subunit: Component of the RNA polymerase I (Pol I) and RNA polymerase III (Pol III) complexes consisting of at
least 13 and 17 subunits, respectively (By similarity)
Secondary accessions: O75395 Q5JTE3
Alternative splicing: 2 isoforms:  O15160-1   O15160-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for POLR1C: NX_O15160

Explore proteomics data for POLR1C at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys167, Lys224
  • Modification sites at PhosphoSitePlus

  • See POLR1C Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_976035.1  
    ENSEMBL proteins: 
     ENSP00000395401   ENSP00000361465   ENSP00000361419   ENSP00000307212   ENSP00000409536  
    Reactome Protein details: O15160

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    Cloud-Clone Corp. Proteins for POLR1C

     
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    antibodies-online proteins for POLR1C (6 products) 

     
    antibodies-online peptides for POLR1C

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    (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

    4 InterPro protein domains:
     IPR011263 DNA-dir_RNA_pol_RpoA/D/Rpb3
     IPR011262 DNA-dir_RNA_pol_insert
     IPR001514 DNA-dir_RNA_pol_30-40kDasu_CS
     IPR009025 RBP11-like_dimer

    Graphical View of Domain Structure for InterPro Entry O15160

    ProtoNet protein and cluster: O15160

    1 Blocks protein domain: IPB001514 DNA-directed RNA polymerase

    UniProtKB/Swiss-Prot: RPAC1_HUMAN, O15160
    Similarity: Belongs to the archaeal RpoD/eukaryotic RPB3 RNA polymerase subunit family


    Find genes that share domains with POLR1C           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: RPAC1_HUMAN, O15160
    Function: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside
    triphosphates as substrates. Common component of RNA polymerases I and III which synthesize ribosomal RNA
    precursors and small RNAs, such as 5S rRNA and tRNAs, respectively. RPAC1 is part of the Pol core element with
    the central large cleft and probably a clamp element that moves to open and close the cleft (By similarity)

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001054contributes to RNA polymerase I activity IBA--
    GO:0001056contributes to RNA polymerase III activity IBA--
    GO:0003677DNA binding IEA--
    GO:0003899DNA-directed RNA polymerase activity TAS9540830
    GO:0046983protein dimerization activity IEA--
         
    Find genes that share ontologies with POLR1C           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for POLR1C:
     Actin fiber cells  Decreased viability of wild-ty  Synthetic lethal with Ras 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for POLR1C

    miRNA
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    miRTarBase miRNAs that target POLR1C:
    hsa-mir-16-5p (MIRT032027)

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    2 qRT-PCR Assays for microRNAs that regulate POLR1C:
    hsa-miR-3142 hsa-miR-4274
    SwitchGear 3'UTR luciferase reporter plasmidPOLR1C 3' UTR sequence
    Inhib. RNA
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    Addgene plasmids for POLR1C 

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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
    RPAC1_HUMAN, O15160: Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol2
    chloroplast1
    cytoskeleton1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005654nucleoplasm TAS--
    GO:0005666DNA-directed RNA polymerase III complex IDA--
    GO:0005736DNA-directed RNA polymerase I complex TAS9540830
    GO:0005829cytosol TAS--

    Find genes that share ontologies with POLR1C           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 POLR1C About   (see all 11)  
    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
    2RNA Polymerase I Promoter Escape
    RNA Polymerase I Promoter Escape0.88
    RNA Polymerase I Transcription Initiation0.55
    RNA Polymerase I Transcription Termination0.88
    Assembly of RNA Polymerase-I Initiation Complex0.32
    3Purine metabolism (KEGG)
    Purine metabolism0.38
    ATP ITP metabolism0.31
    Pyrimidine metabolism0.38
    4Cytosolic sensors of pathogen-associated DNA
    Cytosolic sensors of pathogen-associated DNA0.38
    Cytosolic DNA-sensing pathway0.33
    5RNA Polymerase I Promoter Opening
    RNA Polymerase I Transcription0.78
    RNA Polymerase I Promoter Clearance0.78
    RNA Polymerase I Chain Elongation0.78
    RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription0.73


    Find genes that share SuperPaths with POLR1C           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for POLR1C
        Assembly of RNA Polymerase-I Initiation Complex
    DNA Repair Mechanisms
    Inhibition of Ribosome Biogenesis by p14(ARF)

    1 GeneGo (Thomson Reuters) Pathway for POLR1C
        ATP/ITP metabolism

    1 BioSystems Pathway for POLR1C
        TNF-alpha/NF-kB Signaling Pathway


    Selected Reactome Pathways for POLR1C (see all 12)
        RNA Polymerase III Transcription Initiation From Type 3 Promoter
    Cytosolic sensors of pathogen-associated DNA
    RNA Polymerase III Chain Elongation
    RNA Polymerase I Promoter Escape
    NoRC negatively regulates rRNA expression


    Selected Kegg Pathways  (Kegg details for POLR1C) (see all 6):
        Purine metabolism
    Pyrimidine metabolism
    Metabolic pathways
    RNA polymerase
    Cytosolic DNA-sensing pathway

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for POLR1C
    Interactions:

        Search GeneGlobe Interaction Network for POLR1C

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

    Selected Interacting proteins for POLR1C (O151602, 3 ENSP000003614654) via UniProtKB, MINT, STRING, and/or I2D (see all 1221)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053, ENSP000003529804I2D: score=4 STRING: ENSP00000352980
    HIST1H4CP628053, ENSP000003670344I2D: score=4 STRING: ENSP00000367034
    HIST1H4DP628053, ENSP000003432824I2D: score=4 STRING: ENSP00000343282
    HIST1H4EP628053, ENSP000003536244I2D: score=4 STRING: ENSP00000353624
    HIST1H4HP628053, ENSP000002893524I2D: score=4 STRING: ENSP00000289352
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated ----
    GO:0006360transcription from RNA polymerase I promoter TAS--
    GO:0006361transcription initiation from RNA polymerase I promoter TAS--
    GO:0006362transcription elongation from RNA polymerase I promoter TAS--
    GO:0006363termination of RNA polymerase I transcription TAS--

    Find genes that share ontologies with POLR1C           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 POLR1C (RPAC1)

    6 HMDB Compounds for POLR1C    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--
    Uridine triphosphate5'-UTP (see all 7)63-39-8--

    Selected Novoseek inferred chemical compound relationships for POLR1C gene (see all 18)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rrna 78 49 8609157 (5), 10567578 (3), 7737154 (2), 15073185 (2) (see all 32)
    alpha-amanitin 67.1 4 10081089 (1), 14565978 (1), 7867928 (1), 11971179 (1)
    s-napc 64 1 7662364 (1)
    actinomycin d 56.4 14 15014084 (1), 14565978 (1), 7593322 (1), 10751146 (1) (see all 12)
    deae-sephadex a-25 53.7 1 10081089 (1)
    zeatin 41.7 5 7789509 (2), 9512365 (1)
    5,6-dichloro-1-beta-d-ribofuranosylbenzimidazole 41.3 1 8799815 (1)
    trna 40.6 1 16626295 (1)
    phosphodiester 38.5 1 8413268 (1)
    teniposide 26.6 1 2160588 (1)



    Find genes that share compounds with POLR1C           About GenesLikeMe



    (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 POLR1C gene (2 alternative transcripts): 
    NM_203290.2  NM_004875.2  

    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000428025 ENST00000372389(uc003ovn.3) ENST00000481352 ENST00000512472
    ENST00000372344 ENST00000304004(uc003ovo.2) ENST00000488601 ENST00000423780
    ENST00000455605
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    Selected AceView cDNA sequences (see all 255):

    D30849 AI168450 AI656289 BM666432 BQ688311 CR610719 BM667462 CA419783 
    CR613447 BQ183761 AA149835 BM458851 BM542214 BM792971 BP382031 CF130801 
    AU100337 CR602912 NM_004875 BU185214 BI913592 BX397724 CA424141 BC008863 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for POLR1C (see all 7)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9 ^ 10
    SP1:                                                                                -               
    SP2:                                                                                                
    SP3:                                                                                                
    SP4:                                                                                -     -         
    SP5:                                                                                                


    ECgene alternative splicing isoforms for POLR1C

    (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)
    About This Section

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    POLR1C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCAAGTTTTC
    POLR1C Expression
    About this image


    POLR1C expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Kidney (Urinary System)
             Metanephros
     
     Neural Tube (Nervous System)
             Telencephalon
    POLR1C Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    POLR1C Protein Expression
        Custom PCR Arrays for POLR1C
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POLR1C

    (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

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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for POLR1C gene from Selected species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Polr1c1 , 5 polymerase (RNA) I polypeptide C1, 5 86.42(n)1
    93.93(a)1
      17 (22.90 cM)5
    200161  NM_009085.21  NP_033111.21 
     462439205 
    chicken
    (Gallus gallus)
    Aves POLR1C1 polymerase (RNA) I polypeptide C, 30kDa 75.14(n)
    82.37(a)
      421452  NM_001277630.1  NP_001264559.1 
    lizard
    (Anolis carolinensis)
    Reptilia POLR1C6
    polymerase (RNA) I polypeptide C, 30kDa
    72(a)
    1 ↔ 1
    1(231025167-231032758)
    African clawed frog
    (Xenopus laevis)
    Amphibia BQ727404.12   -- 74.03(n)    BQ727404.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc659732 RNA polymerase 1-1 74.46(n)   393538  BC056581.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG37561 CG3756 57.74(n)
    54.84(a)
      33712  NM_135041.3  NP_608885.1 
    worm
    (Caenorhabditis elegans)
    Secernentea H43I07.21 H43I07.2 52.09(n)
    50.15(a)
      178823  NM_071765.4  NP_504166.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RPC40(YPR110C)4
    RPC401
    RNA polymerase subunit AC40, common to RNA polymerase I and III less4
    RPC401
    52.04(n)1
    47.02(a)1
      16(746835-745828)4
    8562261, 4  NP_015435.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons RPAC431 RPAC43 54.72(n)
    52.52(a)
      842356  NM_104745.2  NP_176261.1 
    rice
    (Oryza sativa)
    Liliopsida Os.181982 Oryza sativa (japonica cultivar-group) cDNA cloneJ033087E17, full insert sequence less 74.22(n)    AK102201.1 


    ENSEMBL Gene Tree for POLR1C (if available)
    TreeFam Gene Tree for POLR1C (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    (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)
    About This Section

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    Selected SNPs for POLR1C (see all 235)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1915826281,2,,4
    CTreacher Collins syndrome 3 (TCS3)4 --43399456(+) CCCCCA/GGCTGG 2 Q R mis10--------
    VAR_0649004
    Treacher Collins syndrome 3 (TCS3)4--see VAR_0649002 R W mis40--------
    rs1878652231,2
    --43200752(+) TTAGAA/GGCAAG 1 -- us2k10--------
    rs126646651,2
    C,H--43200800(+) TCACTT/CTGTTG 1 -- us2k14Minor allele frequency- C:0.08NA WA CSA 125
    rs37572641,2
    C,F--43393555(+) GATCTC/TGGCTC 1 -- us2k13Minor allele frequency- T:0.50NA 6
    rs1924861131,2
    --43393628(+) GCTGGA/GACTAC 1 -- us2k10--------
    rs1847200961,2
    C--43393631(+) GGGACC/TACGGG 1 -- us2k10--------
    rs126612621,2
    C,F,H--43393634(+) actacG/Aggcac 1 -- us2k15Minor allele frequency- A:0.10WA NA CSA EA 127
    rs1126389581,2
    C,F--43393765(+) CCAGGT/CGTGAG 1 -- us2k12Minor allele frequency- C:0.33CSA 3
    rs1447230801,2
    --43393979(+) TGATGG/TGGTCA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for POLR1C (43477440 - 43497323 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for POLR1C:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv6841n71CNV Loss21882294
    nsv818414CNV Gain17921354

    Human Gene Mutation Database (HGMD): POLR1C
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing POLR1C
    DNA2.0 Custom Variant and Variant Library Synthesis for POLR1C

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 610060   
    OMIM disorders: 248390  
    UniProtKB/Swiss-Prot: RPAC1_HUMAN, O15160
  • Treacher Collins syndrome 3 (TCS3) [MIM:248390]: A form of Treacher Collins syndrome, a disorder of
    craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward
    slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the
    defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external
    auditory canals, and bilateral conductive hearing loss. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • 5 diseases for POLR1C:    
    About MalaCards
    polr1c-related treacher collins syndrome    treacher collins syndrome 3    treacher collins syndrome    mixed connective tissue disease
    connective tissue disease


    Find genes that share disorders with POLR1C           About GenesLikeMe

    Selected Novoseek inferred disease relationships for POLR1C gene (see all 15)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sclerosis systemic 46.8 4 8390487 (2), 12846047 (1), 7865382 (1)
    cockayne syndrome 38.9 1 18656484 (1)
    werner syndrome 34.1 1 18625297 (1)
    retinoblastoma 31.6 5 9500674 (1), 9066256 (1), 11042686 (1), 9234680 (1) (see all 5)
    mixed connective tissue disease 19.9 1 1698096 (1)
    influenza 19 10 10590147 (2), 20071567 (2), 16227302 (1), 17956624 (1) (see all 6)
    ascites 9.6 2 7929437 (1), 8076598 (1)
    tumors 2.15 2 10913176 (1), 20332106 (1)
    lupus erythematosus systemic 0 1 15621578 (1)
    virus infection 0 1 20011974 (1)


    Export disorders for POLR1C 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 POLR1C gene, integrated from 10 sources (see all 282):
    (articles sorted by number of sources associating them with POLR1C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. (PubMed id 21131976)1, 2 Dauwerse J.G.... Wieczorek D. (Nat. Genet. 2011)
    2. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)1, 2 Rush J.... Comb M.J. (Nat. Biotechnol. 2005)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    5. A kinetic framework for a mammalian RNA polymerase in vivo. (PubMed id 12446911)1, 3 Dundr M....Misteli T. (Science 2002)
    6. Characterization of human RNA polymerase III identifies orthologues for Saccharomyces cerevisiae RNA polymerase III subunits. (PubMed id 12391170)1, 2 Hu P....Hernandez N. (Mol. Cell. Biol. 2002)
    7. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 3 Zhang Q.-H.... Chen Z. (Genome Res. 2000)
    8. Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full- length cDNA cloning. (PubMed id 9653160)1, 2 Mao M.... Chen Z. (Proc. Natl. Acad. Sci. U.S.A. 1998)
    9. Cloning and characterization of the human RNA polymerase I subunit hRPA40. (PubMed id 9540830)1, 2 Dammann R. and Pfeifer G.P. (Biochim. Biophys. Acta 1998)
    10. Rrn3 becomes inactivated in the process of ribosomal DNA transcription. (PubMed id 12646563)1, 9 Hirschler-Laszkiewicz I....Rothblum L.I. (J. Biol. Chem. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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

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    Entrez Gene: 9533 HGNC: 20194 AceView: POLR1C Ensembl:ENSG00000171453 euGenes: HUgn9533
    ECgene: POLR1C Kegg: 9533 H-InvDB: POLR1C

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for POLR1C Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for POLR1C gene:
    Search GeneIP for patents involving POLR1C

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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