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

POLR1D Gene

protein-coding   GIFtS: 64
GCID: GC13P028194

Polymerase (RNA) I Polypeptide D, 16kDa

  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) I Polypeptide D, 16kDa1 2     TCS22 5
RPA162 3 5     POLR1C2
AC192 3     RPA92
RPC162 3     RPO1-32
DNA-Directed RNA Polymerase I Subunit D2 3     DNA-Directed RNA Polymerases I And III Subunit RPAC22
RNA Polymerases I And III Subunit AC22 3     hRPA193
RPAC22 5     RNA Polymerase I 16 KDa Subunit3

External Ids:    HGNC: 204221   Entrez Gene: 510822   Ensembl: ENSG000001861847   OMIM: 6137155   UniProtKB: Q9Y2S03   

Export aliases for POLR1D gene to outside databases

Previous GC identifers: GC13P022176 GC13P027125 GC13P025994 GC13P025993 GC13P027093 GC13P009017


(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 POLR1D Gene:
The protein encoded by this gene is a component of the RNA polymerase I and RNA polymerase III complexes, which
function in the synthesis of ribosomal RNA precursors and small RNAs, respectively. Mutations in this gene are a
cause of Treacher Collins syndrome (TCS), a craniofacial development disorder. Alternative splicing results in
multiple transcript variants. (provided by RefSeq, Apr 2011)

GeneCards Summary for POLR1D Gene: 
POLR1D (polymerase (RNA) I polypeptide D, 16kDa) is a protein-coding gene. Diseases associated with POLR1D include polr1d-related treacher collins syndrome, and treacher collins syndrome, and among its related super-pathways are RNA Polymerase III Transcription Initiation and Purine metabolism. GO annotations related to this gene include DNA-directed RNA polymerase activity and DNA binding.

UniProtKB/Swiss-Prot: RPAC2_HUMAN, Q9Y2S0
Function: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside
triphosphates as substrates. Common core component of RNA polymerases I and III which synthesize ribosomal RNA
precursors and small RNAs, such as 5S rRNA and tRNAs, respectively

Gene Wiki entry for POLR1D 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000013.10  NT_024524.14  NC_018924.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the POLR1D gene promoter:
         AhR   FOXI1   Pbx1a   Pax-5   Lmo2   Arnt   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPOLR1D promoter sequence
   Search SABiosciences Chromatin IP Primers for POLR1D

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat POLR1D


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

Entrez Gene cytogenetic band: 13q12.2   Ensembl cytogenetic band:  13q12.2   HGNC cytogenetic band: 13q12.2

POLR1D Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
POLR1D gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13P028194:  view genomic region     (about GC identifiers)

Start:
28,194,880 bp from pter      End:
28,241,559 bp from pter
Size:
46,680 bases      Orientation:
plus 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: RPAC2_HUMAN, Q9Y2S0 (See protein sequence)
Recommended Name: DNA-directed RNA polymerases I and III subunit RPAC2  
Size: 133 amino acids; 15237 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)
Subcellular location: Nucleus (By similarity)
Secondary accessions: Q5TBX2 Q96BR3
Alternative splicing: 2 isoforms:  Q9Y2S0-1   Q9Y2S0-2   (Contains a phosphoserine at position 104)

Explore the universe of human proteins at neXtProt for POLR1D: NX_Q9Y2S0

Explore proteomics data for POLR1D at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y2S0

  • POLR1D Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    POLR1D Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001193488.1  NP_057056.1  NP_689918.1  

    ENSEMBL proteins: 
     ENSP00000302478   ENSP00000382604   ENSP00000382603  
    Reactome Protein details: Q9Y2S0
    Human Recombinant Protein Products for POLR1D: 
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    Cloud-Clone Corp. Proteins for POLR1D 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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

    POLR1D 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

    2 InterPro protein domains:
     IPR008193 RNA_pol_Rpb11_13-16kDa_CS
     IPR009025 DNA-dir_RNA_pol_RBP11-like

    Graphical View of Domain Structure for InterPro Entry Q9Y2S0

    ProtoNet protein and cluster: Q9Y2S0

    1 Blocks protein domain: IPB008193 DNA-directed RNA polymerase

    UniProtKB/Swiss-Prot: RPAC2_HUMAN, Q9Y2S0
    Similarity: Belongs to the archaeal RpoL/eukaryotic RPB11/RPC19 RNA polymerase subunit family


    POLR1D 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: RPAC2_HUMAN, Q9Y2S0
    Function: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside
    triphosphates as substrates. Common core component of RNA polymerases I and III which synthesize ribosomal RNA
    precursors and small RNAs, such as 5S rRNA and tRNAs, respectively

         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: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 ----
    GO:0005515protein binding ----
         
    POLR1D for ontologies           About GeneDecksing


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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 POLR1D 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 Initiation0.80
    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
    4RNA Polymerase I Chain Elongation
    RNA Polymerase I Promoter Clearance0.92
    RNA Polymerase I Chain Elongation0.90
    RNA Polymerase I Transcription0.92
    RNA Polymerase I Transcription Initiation0.90
    RNA Polymerase I Promoter Escape0.91
    RNA Polymerase I Transcription Termination0.90
    5Immune System
    Immune System0.56
    Innate Immune System0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for POLR1D
        ATP/ITP metabolism


    1 GeneGo (Thomson Reuters) Pathway for POLR1D
        ATP/ITP metabolism

    2 BioSystems Pathways for POLR1D
        Eukaryotic Transcription Initiation
    TNF-alpha/NF-kB Signaling Pathway

    5/20        Reactome Pathways for POLR1D (see all 20)
        RNA Polymerase III Transcription Initiation
    RNA Polymerase III Transcription Initiation From Type 3 Promoter
    RNA Polymerase III Chain Elongation
    RNA Polymerase I Promoter Escape
    RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription


    5/6         Kegg Pathways  (Kegg details for POLR1D) (see all 6):
        Purine metabolism
    Pyrimidine metabolism
    Metabolic pathways
    RNA polymerase
    Cytosolic DNA-sensing pathway


    POLR1D for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for POLR1D

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

    5/155 Interacting proteins for POLR1D (Q9Y2S02, 3 ENSP000003024784) via UniProtKB, MINT, STRING, and/or I2D (see all 155)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=4 
    HIST1H4BP628053I2D: score=4 
    HIST1H4CP628053I2D: score=4 
    HIST1H4DP628053I2D: score=4 
    HIST1H4EP628053I2D: score=4 
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

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

    POLR1D 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 POLR1D:
    Small Molecule - inhibitor
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    6 HMDB Compounds for POLR1D    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--

    Search CenterWatch for drugs/clinical trials and news about POLR1D / RPAC2

    (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 POLR1D gene (3 alternative transcripts): 
    NM_001206559.1  NM_015972.3  NM_152705.2  

    Unigene Cluster for POLR1D:

    Polymerase (RNA) I polypeptide D, 16kDa
    Hs.507584  [show with all ESTs]
    Unigene Representative Sequence: NM_001206559
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000302979(uc001uro.3) ENST00000399697(uc010aam.3 uc001urp.3 uc001urq.3)
    ENST00000465887 ENST00000489647 ENST00000472179 ENST00000399696
    miRNA
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    Additional mRNA sequence: 

    AF077044.1 AK000623.1 AK097973.1 AK307356.1 AK311833.1 BC000889.1 BC006972.1 BC015319.2 
    BC018528.1 BC054519.1 

    15 DOTS entries:

    DT.118938  DT.454517  DT.120775982  DT.120776064  DT.100659869  DT.95374196  DT.100707580  DT.439378 
    DT.100022133  DT.100026787  DT.97766265  DT.118941  DT.120776076  DT.95375465  DT.40283150 

    24/427 AceView cDNA sequences (see all 427):

    CA449904 CD671876 BQ004736 AA581669 BU069367 AA082454 AI279482 BM855074 
    BQ180879 CA778275 AA918333 AA846388 BC000889 BI253733 BM512285 BU736113 
    CR601824 BG568940 BE549766 AA651703 AA366494 AA765094 BG251152 BX107485 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for POLR1D    About this scheme

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


    ECgene alternative splicing isoforms for POLR1D

    (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

    POLR1D expression in normal human tissues (normalized intensities)      POLR1D embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCTTGACAA
    POLR1D Expression
    About this image


    POLR1D expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/8 selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 19 entries
             Thalamus
             Septum   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Dorsal Horn   
     
     Eye (Sensory Organs)
             Retina
     
     Gonad
             Primary Oocyte Primary Follicle
     
     Lower Urinary Tract (Urinary System)
             visceral organ   

    See POLR1D Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for POLR1D

    SOURCE GeneReport for Unigene cluster: Hs.507584
        SABiosciences Custom PCR Arrays for POLR1D
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    In Situ
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    (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 animals and fungi.

    Orthologs for POLR1D gene from 7/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Polr1d1 , 5 polymerase (RNA) I polypeptide D1, 5 92.48(n)1
    90.23(a)1
      5 (86.73 cM)5
    200181  NM_009087.11  NP_033113.11 
     1470770505 
    chicken
    (Gallus gallus)
    Aves POLR1D1 polymerase (RNA) I polypeptide D, 16kDa 74.69(n)
    78.7(a)
      428713  XM_426271.3  XP_426271.2 
    lizard
    (Anolis carolinensis)
    Reptilia POLR1D6
    polymerase (RNA) I polypeptide D, 16kDa
    63(a)
    1 ↔ 1
    GL343202.1(1812536-1817035)
    zebrafish
    (Danio rerio)
    Actinopterygii polr1d1 polymerase (RNA) I polypeptide D 67.27(n)
    66.36(a)
      445412  NM_001003888.1  NP_001003888.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta l(2)37Cg6
    lethal (2) 37Cg
    35(a)
    1 ↔ 1
    2L(19133023-19135233)
    worm
    (Caenorhabditis elegans)
    Secernentea rpac-196
    Probable DNA-directed RNA polymerases I and III su...
    23(a)
    1 ↔ 1
    III(9629246-9629917)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RPC19(YNL113W)4
    RPC191
    RNA polymerase subunit AC19, common to RNA polymerases I and III less4
    Rpc19p1
    55.46(n)1
    45.38(a)1
      14(412771-413199)4
    8556091, 4  NP_014286.11, 4 


    ENSEMBL Gene Tree for POLR1D (if available)
    TreeFam Gene Tree for POLR1D (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for POLR1D gene
    4 SIMAP similar genes for POLR1D using alignment to 2 protein entries:     RPAC2_HUMAN (see all proteins):
    POLR2J    POLR2J1    POLR2J3    POLR2J2

    POLR1D 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

    10/1006 SNPs in POLR1D are shown (see all 1006)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0648934
    Treacher Collins syndrome 2 (TCS2)4--see VAR_0648932 T I mis40--------
    VAR_0648964
    Treacher Collins syndrome 2 (TCS2)4--see VAR_0648962 R C mis40--------
    VAR_0648944
    Treacher Collins syndrome 2 (TCS2)4--see VAR_0648942 L R mis40--------
    VAR_0648924
    Treacher Collins syndrome 2 (TCS2)4--see VAR_0648922 E K mis40--------
    VAR_0648984
    Treacher Collins syndrome 2 (TCS2)4--see VAR_0648982 G S mis40--------
    VAR_0648954
    Treacher Collins syndrome 2 (TCS2)4--see VAR_0648952 G E mis40--------
    VAR_0648974
    Treacher Collins syndrome 2 (TCS2)4--see VAR_0648972 L S mis40--------
    rs1407887991,2
    C--9040154(+) ATATT-/CTCCTATT 2 -- int10--------
    rs608888741,2
    C--9057765(+) CCCCC-/C/CC  
            
    ACCAC
    2 -- int11NA 2
    rs1844417821,2
    --9147118(+) CCTTCA/GGCCAG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for POLR1D (28194880 - 28241559 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for POLR1D:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv523599CNV Loss19592680


    Human Gene Mutation Database (HGMD): POLR1D
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing POLR1D
    DNA2.0 Custom Variant and Variant Library Synthesis for POLR1D

    (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: 613715   
    OMIM disorders: 613717  
    UniProtKB/Swiss-Prot: RPAC2_HUMAN, Q9Y2S0
  • Treacher Collins syndrome 2 (TCS2) [MIM:613717]: 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

  • 8 diseases for POLR1D:    About MalaCards
    polr1d-related treacher collins syndrome    treacher collins syndrome    nervous system disease    central nervous system disease
    coloboma    cleft palate    kidney disease    colorectal cancer

    1 disease from the University of Copenhagen DISEASES database for POLR1D:
    Treacher Collins syndrome

    POLR1D for disorders           About GeneDecksing

    Genetic Association Database (GAD): POLR1D
    Human Genome Epidemiology (HuGE) Navigator: POLR1D (4 documents)

    Export disorders for POLR1D 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 POLR1D gene, integrated from 9 sources (see all 40):
    (articles sorted by number of sources associating them with POLR1D)
        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. 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. (2011)
    3. Common variants on 14q32 and 13q12 are associated wit h DLBCL susceptibility. (PubMed id 21471979)1, 4 Kumar V....Matsuda K. (2011)
    4. Assessment of a polymorphism of SDK1 with hypertensio n in Japanese Individuals. (PubMed id 19851296)1, 4 Oguri M....Yamada Y. (2010)
    5. Association of genetic variants with hemorrhagic stro ke in Japanese individuals. (PubMed id 20198315)1, 4 Yoshida T....Yamada Y. (2010)
    6. Sequential use of transcriptional profiling, expressi on quantitative trait mapping, and gene association implicates MMP20 in human k idney aging. (PubMed id 19834535)1, 4 Wheeler H.E....Kim S.K. (2009)
    7. Association of gene polymorphisms with chronic kidney disease in Japanese individuals. (PubMed id 19724895)1, 4 Yoshida T....Yamada Y. (2009)
    8. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)1, 2 Dunham A.... Ross M.T. (2004)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    10. 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. (2004)

    (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: 51082 HGNC: 20422 AceView: POLR1D Ensembl:ENSG00000186184 euGenes: HUgn51082
    ECgene: POLR1D Kegg: 51082 H-InvDB: POLR1D

    (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 POLR1D 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 POLR1D gene:
    Search GeneIP for patents involving POLR1D

    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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