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POLH Gene

protein-coding   GIFtS: 68
GCID: GC06P043543

Polymerase (DNA Directed), Eta

  See POLH-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 (DNA Directed), Eta1 2     RAD30 Homolog A2 3
XPV2 3 5     XP-V2
Xeroderma Pigmentosum Variant Type Protein2 3     DNA Polymerase Eta2
RAD302 3     EC 2.7.7.73
RAD30A2 3     

External Ids:    HGNC: 91811   Entrez Gene: 54292   Ensembl: ENSG000001707347   OMIM: 6039685   UniProtKB: Q9Y2533   

Export aliases for POLH gene to outside databases

Previous GC identifers: GC06P043546 GC06P043590 GC06P043651 GC06P043264


(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 POLH Gene:
This gene encodes a member of the Y family of specialized DNA polymerases. It copies undamaged DNA with a lower
fidelity than other DNA-directed polymerases. However, it accurately replicates UV-damaged DNA; when thymine
dimers are present, this polymerase inserts the complementary nucleotides in the newly synthesized DNA, thereby
bypassing the lesion and suppressing the mutagenic effect of UV-induced DNA damage. This polymerase is thought to
be involved in hypermutation during immunoglobulin class switch recombination. Mutations in this gene result in
XPV, a variant type of xeroderma pigmentosum. (provided by RefSeq, Jul 2008)

GeneCards Summary for POLH Gene:
POLH (polymerase (DNA directed), eta) is a protein-coding gene. Diseases associated with POLH include polh-related xeroderma pigmentosum, and xeroderma pigmentosum, variant type. GO annotations related to this gene include damaged DNA binding and DNA-directed DNA polymerase activity. An important paralog of this gene is REV1.

UniProtKB/Swiss-Prot: POLH_HUMAN, Q9Y253
Function: DNA polymerase specifically involved in DNA repair. Plays an important role in translesion synthesis,
where the normal high fidelity DNA polymerases cannot proceed and DNA synthesis stalls. Plays an important role
in the repair of UV-induced pyrimidine dimers. Depending on the context, it inserts the correct base, but causes
frequent base transitions and transversions. May play a role in hypermutation at immunoglobulin genes. Forms a
Schiff base with 5'-deoxyribose phosphate at abasic sites, but does not have lyase activity. Targets POLI to
replication foci

Gene Wiki entry for POLH 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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RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NT_007592.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the POLH gene promoter:
         NF-1/L   NF-1   Elk-1   RP58   Bach2   CUTL1   Nkx2-5   c-Myb   STAT3   Zic3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPOLH promoter sequence
   Search Chromatin IP Primers for POLH

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


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

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

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P043543:  view genomic region     (about GC identifiers)

Start:
43,543,878 bp from pter      End:
43,588,260 bp from pter
Size:
44,383 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: POLH_HUMAN, Q9Y253 (See protein sequence)
Recommended Name: DNA polymerase eta  
Size: 713 amino acids; 78413 Da
Cofactor: Divalent metal cations. Prefers magnesium, but can also use manganese
Subunit: Interacts with REV1 (By similarity). Interacts with monoubiquitinated PCNA, but not unmodified PCNA.
Interacts with POLI
Selected PDB 3D structures from and Proteopedia for POLH (see all 41):
2I5O (3D)        2LSK (3D)        3MR2 (3D)        3MR3 (3D)        3MR5 (3D)        3MR6 (3D)    
Secondary accessions: Q7L8E3 Q96BC4 Q9BX13
Alternative splicing: 2 isoforms:  Q9Y253-1   Q9Y253-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for POLH: NX_Q9Y253

Explore proteomics data for POLH at MOPED

Post-translational modifications: 

  • Monoubiquitinated by RCHY1/PIRH2; ubiquitination inhibits the ability of PolH to interact with PCNA and to bypass
    UV-induced lesions1
  • Ubiquitination2 at Lys682, Lys686, Lys694, Lys709
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_006493.1  
    ENSEMBL proteins: 
     ENSP00000361310   ENSP00000361300   ENSP00000405320   ENSP00000442102  
    Reactome Protein details: Q9Y253

    POLH Human Recombinant Protein Products:

    EMD Millipore Purified and/or Recombinant POLH Protein
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    Novus Biologicals POLH Protein
    Novus Biologicals POLH Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for POLH 

     
    antibodies-online proteins for POLH (3 products) 

     
    Search antibodies-online for peptides for POLH

    POLH Antibody Products:

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    Browse Antibodies at Cloud-Clone Corp.
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    antibodies-online antibodies for POLH (31 products) 

    POLH Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for POLH
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for POLH 
    antibodies-online kits for POLH (4 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR001126 DNA_repair_prot_UmuC-like
     IPR017963 DNA_repair_prot_UmuC-like_N
     IPR017961 DNA_pol_Y-fam_little_finger
     IPR017061 DNA_pol_eta

    Graphical View of Domain Structure for InterPro Entry Q9Y253

    ProtoNet protein and cluster: Q9Y253

    1 Blocks protein domain: IPB001126 UMUC-like DNA-repair protein

    UniProtKB/Swiss-Prot: POLH_HUMAN, Q9Y253
    Domain: The catalytic core consists of fingers, palm and thumb subdomains, but the fingers and thumb subdomains
    are much smaller than in high-fidelity polymerases; residues from five sequence motifs of the Y-family cluster
    around an active site cleft that can accommodate DNA and nucleotide substrates with relaxed geometric
    constraints, with consequently higher rates of misincorporation and low processivity
    Similarity: Belongs to the DNA polymerase type-Y family
    Similarity: Contains 1 umuC domain


    Find genes that share domains with POLH           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: POLH_HUMAN, Q9Y253
    Function: DNA polymerase specifically involved in DNA repair. Plays an important role in translesion synthesis,
    where the normal high fidelity DNA polymerases cannot proceed and DNA synthesis stalls. Plays an important role
    in the repair of UV-induced pyrimidine dimers. Depending on the context, it inserts the correct base, but causes
    frequent base transitions and transversions. May play a role in hypermutation at immunoglobulin genes. Forms a
    Schiff base with 5'-deoxyribose phosphate at abasic sites, but does not have lyase activity. Targets POLI to
    replication foci
    Catalytic activity: Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1)

         Genatlas biochemistry entry for POLH:
    polymerase eta,yeast (S cerevisia) RAD30 homolog with a thymine dimer by pass DNA polymerase activity,error free
    replicator (? relationship with ERCC6)

         Enzyme Number (IUBMB): EC 2.7.7.71

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003684damaged DNA binding IEA--
    GO:0003887DNA-directed DNA polymerase activity TAS--
    GO:0005515protein binding IPI16763556
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with POLH           About GenesLikeMe


    Phenotypes:
         4 GenomeRNAi human phenotypes for POLH:
     Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e  Decreased viability with cispl 

         7 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Polh):
     craniofacial  hearing/vestibular/ear  hematopoietic system  immune system  integument 
     pigmentation  tumorigenesis 

    Find genes that share phenotypes with POLH           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for POLH: Polhtm1Crey Polhtm1.1Rak Polhtm2Fmh Polhtm1Fmh

       genOway: Develop your customized and physiologically relevant rodent model for POLH

    miRNA
    Products:
        
    miRTarBase miRNAs that target POLH:
    hsa-mir-183-5p (MIRT047103)

    Block miRNA regulation of human, mouse, rat POLH using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate POLH (see all 28):
    hsa-miR-4307 hsa-miR-607 hsa-let-7a-2* hsa-miR-218 hsa-miR-629 hsa-let-7g* hsa-miR-3613-3p hsa-miR-548x
    SwitchGear 3'UTR luciferase reporter plasmidPOLH 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for POLH
    Predesigned siRNA for gene silencing in human, mouse, rat POLH

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for POLH

    Clone
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    OriGene ORF clones in mouse, rat for POLH
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: POLH (NM_006502)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for POLH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat POLH

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for POLH 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POLH


    (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
    POLH_HUMAN, Q9Y253: Nucleus. Note=Accumulates at replication forks after DNA damage
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    extracellular1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm ----

    Find genes that share ontologies with POLH           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 POLH About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1DNA Damage Bypass
    DNA Damage Bypass
    Translesion synthesis by Pol eta0.00
    Translesion synthesis by DNA polymerases bypassing lesion on DNA template0.00
    2DNA Repair
    DNA Repair0.45
    3Chks in Checkpoint Regulation
    DNA Repair Mechanisms0.32
    4Selected targets of p53
    Selected targets of p53
    5Fanconi anemia pathway (KEGG)
    Fanconi anemia pathway


    Find genes that share SuperPaths with POLH           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for POLH
        DNA Repair Mechanisms
    Cell Cycle Control of Chromosomal Replication

    1 Reactome Pathway for POLH
        Translesion synthesis by Pol eta


    1 Kegg Pathway  (Kegg details for POLH):
        Fanconi anemia pathway

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

        GeneGlobe Interaction Network for POLH

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

    Selected Interacting proteins for POLH (Q9Y2531, 2, 3 ENSP000003613104) via UniProtKB, MINT, STRING, and/or I2D (see all 146)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000232575P074373, ENSP000004100714I2D: score=1 STRING: ENSP00000410071
    ENSG00000183311P074373I2D: score=1 
    ENSG00000224156P074373I2D: score=1 
    ENSG00000227739P074373I2D: score=1 
    ENSG00000229684P074373I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000731DNA synthesis involved in DNA repair IDA17563354
    GO:0006261DNA-dependent DNA replication TAS10398605
    GO:0006281DNA repair TAS--
    GO:0006282regulation of DNA repair TAS10398605
    GO:0006290pyrimidine dimer repair IEA--

    Find genes that share ontologies with POLH           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 POLH

    8 HMDB Compounds for POLH    About this table
    CompoundSynonyms CAS #PubMed Ids
    MagnesiumMagnesium (see all 2)7439-95-4--
    Manganesemanganese 7439-96-5--
    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--
    dATP2'-Deoxy-5'-ATP (see all 8)1927-31-7--
    dCTP2'-deoxycytidine-5'-triphosphate (see all 4)2056-98-6--
    dGTP2'-Deoxyguanosine 5'-triphosphate (see all 4)2564-35-4--

    3 Novoseek inferred chemical compound relationships for POLH gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adenine 27.9 1 19307563 (1)
    platinum 16.1 1 15374956 (1)
    cisplatin 14.2 3 15374956 (2), 16267001 (1)



    Find genes that share compounds with POLH           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 POLH gene: 
    NM_006502.2  

    Unigene Cluster for POLH:

    Polymerase (DNA directed), eta
    Hs.655467  [show with all ESTs]
    Unigene Representative Sequence: NM_006502
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000372236(uc010jyu.2 uc003ovq.4) ENST00000372226 ENST00000443535
    ENST00000535400(uc011dvl.1 uc003ovr.3)
    miRNA
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    Block miRNA regulation of human, mouse, rat POLH using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate POLH (see all 28):
    hsa-miR-4307 hsa-miR-607 hsa-let-7a-2* hsa-miR-218 hsa-miR-629 hsa-let-7g* hsa-miR-3613-3p hsa-miR-548x
    SwitchGear 3'UTR luciferase reporter plasmidPOLH 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat POLH
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    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for POLH
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat POLH
      QuantiTect SYBR Green Assays in human, mouse, rat POLH
      QuantiFast Probe-based Assays in human, mouse, rat POLH

    Additional mRNA sequence: 

    AB024313.1 AF158185.1 AF241258.1 AJ420484.1 AK023893.1 AK025631.1 AK122807.1 AK294430.1 
    AK307660.1 AK316151.1 BC015742.1 

    19 DOTS entries:

    DT.434186  DT.121405348  DT.95284413  DT.308625  DT.101956410  DT.121405614  DT.97809586  DT.100694943 
    DT.95106246  DT.121405440  DT.121405581  DT.121405710  DT.100718467  DT.121405719  DT.91701309  DT.91867078 
    DT.91918130  DT.92009943  DT.99964353 

    Selected AceView cDNA sequences (see all 108):

    BQ055421 BE046916 BX954583 AF158185 BP357687 AW025961 BE464074 AI286076 
    AW069783 BM476481 BI861196 BQ059637 BC015742 AA894834 AA573327 BQ888430 
    BM472352 BE501130 AA740992 AW068996 AK023893 BE559889 CA431025 AW674889 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for POLH (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b
    SP1:                                      -                                                                           
    SP2:                                      -                                                                 -         
    SP3:                                                                                                                  
    SP4:                    -     -     -     -     -     -                                                               
    SP5:                    -           -     -     -     -                                                               


    ECgene alternative splicing isoforms for POLH

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

    POLH Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    POLH Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.655467
        Custom PCR Arrays for POLH
    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat POLH
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POLH

    (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 animals and fungi.

    Orthologs for POLH gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Polh1 , 5 polymerase (DNA directed), eta (RAD 30 related)1, 5 83.77(n)1
    81.56(a)1
      17 (22.90 cM)5
    809051  NM_030715.31  NP_109640.11 
     461720045 
    chicken
    (Gallus gallus)
    Aves POLH1 polymerase (DNA directed), eta 60.67(n)
    58.76(a)
      395102  NM_001001304.1  NP_001001304.1 
    lizard
    (Anolis carolinensis)
    Reptilia POLH6
    polymerase (DNA directed), eta
    54(a)
    1 ↔ 1
    1(230949661-230963934)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.160682 Xenopus laevis transcribed sequence with weak similarity more 73.94(n)    CB209635.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc50a122 Danio rerio cDNA clone IMAGE5602737, partial cds 71.91(n)    BC055601.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta DNApol-&eegr;3 bypass DNA synthesis eta DNA polymerase 39(a)   79A4   --
    worm
    (Caenorhabditis elegans)
    Secernentea F53A3.23
    polh-11
    polh-11 35(a)3
    48.26(n)1
    39.1(a)1
      III(2016938-2022075)3
    1753371  NM_065079.21  NP_497480.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RAD30(YDR419W)4 DNA polymerase eta, involved in translesion synthesis more   --   4(1303174-1305072) 852028  NP_010707.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for POLH gene
    REV12  POLK2  POLI2  
    1 SIMAP similar gene for POLH using alignment to 4 protein entries:     POLH_HUMAN (see all proteins):
    POLI

    Find genes that share paralogs with POLH           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for POLH
    PGOHUM00000240518


    (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 POLH (see all 1021)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs563073551,2,,4
    CXeroderma pigmentosum variant type (XPV)4 pathogenic171234865(+) AGCAGA/GAAAGT 2 K E mis12Minor allele frequency- G:0.00EA NA 4646
    VAR_0212364
    Xeroderma pigmentosum variant type (XPV)4--see VAR_0212362 K T mis40--------
    VAR_0212324
    Xeroderma pigmentosum variant type (XPV)4--see VAR_0212322 R S mis40--------
    VAR_0708374
    Xeroderma pigmentosum variant type (XPV)4--see VAR_0708372 V D mis40--------
    VAR_0212274
    Xeroderma pigmentosum variant type (XPV)4--see VAR_0212272 R H mis40--------
    VAR_0212284
    Xeroderma pigmentosum variant type (XPV)4--see VAR_0212282 T P mis40--------
    VAR_0212304
    Xeroderma pigmentosum variant type (XPV)4--see VAR_0212302 G V mis40--------
    VAR_0708364
    Xeroderma pigmentosum variant type (XPV)4--see VAR_0708362 R P mis40--------
    VAR_0362204
    A breast cancer sample4--see VAR_0362202 G D mis40--------
    VAR_0708384
    Xeroderma pigmentosum variant type (XPV)4--see VAR_0708382 G R mis40--------

    HapMap Linkage Disequilibrium report for POLH (43543878 - 43588260 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for POLH:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv6842n71CNV Loss21882294
    nsv5281CNV Loss18451855

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

    (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.)
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    OMIM gene information: 603968   
    OMIM disorders: 278750  
    UniProtKB/Swiss-Prot: POLH_HUMAN, Q9Y253
  • Xeroderma pigmentosum variant type (XPV) [MIM:278750]: An autosomal recessive pigmentary skin disorder
    characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed
    to sunlight and, in some cases, neurological abnormalities. XPV shows normal nucleotide excision repair, but an
    exaggerated delay in recovery of replicative DNA synthesis. Most patients with the variant type of xeroderma
    pigmentosum do not develop clinical symptoms and skin neoplasias until a later age. Clinical manifestations are
    limited to photo-induced deterioration of the skin and eyes. Note=The disease is caused by mutations affecting
    the gene represented in this entry

  • 3 diseases for POLH:    
    About MalaCards
    polh-related xeroderma pigmentosum    xeroderma pigmentosum, variant type    xeroderma pigmentosum

    2 diseases from the University of Copenhagen DISEASES database for POLH:
    Xeroderma pigmentosum     Skin cancer

    Find genes that share disorders with POLH           About GenesLikeMe

    7 Novoseek inferred disease relationships for POLH gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    xeroderma pigmentosum 91.5 27 12244178 (2), 11181443 (1), 12967656 (1), 17198712 (1) (see all 22)
    xeroderma 87.1 1 16267001 (1)
    skin cancer 75.7 13 12967656 (1), 10801132 (1), 12546696 (1), 16823845 (1) (see all 9)
    somatic mutations 19.4 1 16823845 (1)
    cancer 17.7 4 12546696 (1), 20008555 (1), 17334634 (1), 16603639 (1)
    carcinoma squamous cell 0 1 17334634 (1)
    tumors 0 5 20008555 (2), 16823845 (1)

    GeneTests: POLH
    GeneReviews: POLH
    Genetic Association Database (GAD): POLH
    Human Genome Epidemiology (HuGE) Navigator: POLH (6 documents)

    Export disorders for POLH 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 POLH gene, integrated from 10 sources (see all 202):
    (articles sorted by number of sources associating them with POLH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The XPV (Xeroderma pigmentosum variant) gene encodes human DNA polymerase eta. (PubMed id 10385124)1, 2, 3, 9 Masutani C.... Hanaoka F. (Nature 1999)
    2. hRAD30 mutations in the variant form of xeroderma pigmentosum. (PubMed id 10398605)1, 2, 3, 9 Johnson R.E.... Prakash L. (Science 1999)
    3. Variants of the xeroderma pigmentosum variant gene (POLH) are associated with melanoma risk. (PubMed id 19477635)1, 4, 9 Di Lucca J....Soufir N. (Eur. J. Cancer 2009)
    4. DNA polymerase eta is an A-T mutator in somatic hypermutation of immunoglobulin variable genes. (PubMed id 11376341)1, 2, 9 Zeng X....Gearhart P.J. (Nat. Immunol. 2001)
    5. Pirh2 E3 ubiquitin ligase monoubiquitinates DNA polymerase eta to suppress translesion DNA synthesis. (PubMed id 21791603)1, 2 Jung Y.S.... Chen X. (Mol. Cell. Biol. 2011)
    6. MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer. (PubMed id 20819778)1, 4 Zhang X....Wu X. (Carcinogenesis 2010)
    7. Regulation of translesion synthesis DNA polymerase eta by monoubiquitination. (PubMed id 20159558)1, 2 Bienko M.... Dikic I. (Mol. Cell 2010)
    8. Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk. (PubMed id 19237606)1, 4 Michiels S....Benhamou S. (Carcinogenesis 2009)
    9. Genetic variation in immune regulation and DNA repair pathways and stomach cancer in China. (PubMed id 19661089)1, 4 Hussain S.K....Zhang Z.F. (amp 2009)
    10. DNA polymerase eta is involved in hypermutation occurring during immunoglobulin class switch recombination. (PubMed id 14734526)1, 2 Faili A.... Weill J.-C. (J. Exp. Med. 2004)

    (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)
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    Entrez Gene: 5429 HGNC: 9181 AceView: POLH Ensembl:ENSG00000170734 euGenes: HUgn5429
    ECgene: POLH Kegg: 5429 H-InvDB: POLH

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for POLH Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for POLH Genetics and Cytogenetics in Oncology and Haematology
    Allelic variations of the XP geneshttp://www.xpmutations.org/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=POLH[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/polh/

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

    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
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