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

POLH Gene

protein-coding   GIFtS: 64
GCID: GC06P043543

polymerase (DNA directed), eta
 Explore 15 diseases affiliated with
POLH via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for POLH    

Aliases
for POLH gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Polymerase (DNA Directed), Eta1 2     RAD302 3
RAD30A1 2 3     RAD30 Homolog A2 3
XPV2 3 5     DNA Polymerase Eta2
XP-V1 2     EC 2.7.7.73
Xeroderma Pigmentosum Variant Type Protein2 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


Summaries
for POLH gene

(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 POLH:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_007592.15  
Regulatory elements:
   SABiosciences 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 plasmid: POLH promoter sequence
   Search SABiosciences Chromatin IP Primers for POLH

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for POLH gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Nucleus. Note=Accumulates at replication forks after DNA damage
6/32 PDB 3D structures from and Proteopedia for POLH (see all 32):
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

Post-translational modifications:

  • Monoubiquitinated by RCHY1/PIRH2; ubiquitination inhibits the ability of PolH to interact with PCNA and to bypass
    • UV-induced lesions1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9Y253

    • POLH Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_006493.1  
    ENSEMBL proteins: 
     ENSP00000361310   ENSP00000361300   ENSP00000405320   ENSP00000442102  
    Reactome Protein details: Q9Y253
    Human Recombinant Protein Products: 
    EMD Millipore Purified and/or Recombinant POLH Protein
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: POLH
    OriGene Protein Over-expression Lysate: POLH
    OriGene Custom Protein Services for POLH 
    GenScript Custom Purified and Recombinant Proteins Services for POLH
    Novus Biologicals POLH Protein
    Novus Biologicals POLH Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--


    POLH for ontologies           About GeneDecksing



    POLH Antibody Products: 
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    Search for Antibodies for POLH at Abcam  
    Browse Antibodies at Uscn
    Search ThermoFisher Antibodies for POLH

    Assay Products for POLH: 
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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs and CLIAs at Uscn

    Protein Domains /
    Families
    for POLH gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    POLH for domains           About GeneDecksing

    4 InterPro domains/families:
     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 family: 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


    Function
    for POLH gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
    Products:            		 OriGene 3'-UTR Clone: POLH
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat POLH
    8/28 QIAGEN miScript miRNA 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 plasmid: POLH 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for POLH (see all 7)
    OriGene shRNA RFP: POLH
    OriGene siRNA: POLH
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat POLH

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

    Clone
    Products:             		EMD Millipore Clones for the Expression of POLH
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for POLH (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, 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
    Products:             		GenScript Custom overexpressing Cell Line Services for POLH
    Search LifeMap BioReagents cell lines for POLH

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POLH

    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003684damaged DNA binding IEA--
    GO:0003887DNA-directed DNA polymerase activity TAS--
    GO:0046872metal ion binding IEA--


    POLH for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-outs for POLH: Polhtm1Crey Polhtm1.1Rak Polhtm2Fmh Polhtm1Fmh
         6 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Polh):
     craniofacial  hearing/vestibular/ear  immune system  integument  pigmentation 
     tumorigenesis 

    POLH for phenotypes           About GeneDecksing


    Pathways & Interactions
    for POLH gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Translesion synthesis by DNA polymerases bypassing lesion on DNA template
    		Translesion synthesis by DNA polymerases bypassing lesion on DNA template 1.00
    		DNA Damage Bypass1.00
    2Translesion synthesis by Pol eta
    		Translesion synthesis by Pol eta 1.00
    3Selected targets of p53
    		Selected targets of p531.00
    4Cell Cycle Control of Chromosomal Replication
    		Cell Cycle Control of Chromosomal Replication1.00
    5Nucleotide Excision Repair
    		DNA Repair0.46

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for POLH
        Selected targets of p53

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

    4        Reactome Pathways for POLH
        DNA Repair
    Translesion synthesis by DNA polymerases bypassing lesion on DNA template
    DNA Damage Bypass
    Translesion synthesis by Pol eta



    POLH for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for POLH

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    5/19 Interacting proteins for POLH (Q9Y2532, 3 ENSP000003613104) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    REV1Q9UBZ92, 3, ENSP000002584284MINT-8385495 MINT-8385863 I2D: score=6 STRING: ENSP00000258428
    UBCP0CG482, 3, ENSP000003448184MINT-4507263 MINT-2789884 MINT-2789791 MINT-2789526 I2D: score=2 STRING: ENSP00000344818
    PCNAP120043, ENSP000003684384I2D: score=2 STRING: ENSP00000368438
    POLIQ9UNA43, ENSP000002178004I2D: score=1 STRING: ENSP00000217800
    UBE2BP631463, ENSP000002653394I2D: score=1 STRING: ENSP00000265339
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000731DNA synthesis involved in DNA repair IDA17563354
    GO:0006260DNA replication IEA--
    GO:0006281DNA repair TAS--
    GO:0006282regulation of DNA repair TAS10398605
    GO:0006290pyrimidine dimer repair IEA--


    POLH for ontologies           About GeneDecksing



    Drugs & Compounds
    for POLH gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    POLH for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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 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)

    Search CenterWatch for drugs/clinical trials and news about POLH 

    Transcripts
    for POLH gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
    Products:             		 OriGene 3'-UTR Clone: POLH
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat POLH
    8/28 QIAGEN miScript miRNA 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 plasmid: POLH 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for POLH (see all 7)
    OriGene shRNA RFP: POLH
    OriGene siRNA: POLH
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat POLH
    Clone
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: POLH (NM_006502)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for POLH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat POLH 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat POLH
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat POLH

    Additional cDNA sequence: 

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

    20 DOTS entries:

    DT.434186  DT.121405348  DT.95284413  DT.308625  DT.101956410  DT.121405614  DT.100694943  DT.97809586 
    DT.95106246  DT.121405440  DT.121405581  DT.121405710  DT.99964353  DT.100718467  DT.100765498  DT.121405719 
    DT.91701309  DT.91867078  DT.91918130  DT.92009943 

    24/108 AceView cDNA sequences (see all 108):

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

    GeneLoc Exon Structure

    5/6 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

    Expression
    for POLH gene

    (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

    POLH expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAAACAGGAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    POLH expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Intermediate limb mesenchymal cells (ILM cells) (Primary Cell)Bone, Cartilage, Limb
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

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

    SOURCE GeneReport for Unigene cluster: Hs.655467
        SABiosciences Custom PCR Arrays for POLH
    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for POLH
    Browse OriGene validated miRNA SYBR primer pairs
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    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat POLH
    QIAGEN 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
    for POLH gene

    (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 last universal common ancestor (LUCA).

    Orthologs for POLH gene from 9/32 species (see all 32)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves POLH1 polymerase (DNA directed), eta 60.47(n)
    57.91(a)    		   395102  NM_001001304.1  NP_001001304.1 
    lizard
    (Anolis carolinensis)    		 Reptilia POLH6
    		 --
    		 54(a)
    		 1 ↔ 1
    		 1(230949661-230963473)
    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
    DNApol-eta1    		 bypass DNA synthesis eta DNA polymerase3
    CG7143-PA1    		 39(a)3
    46.15(n)1
    36.77(a)1    		   79A43
    404381  NM_141114.21  NP_649371.21 
    worm
    (Caenorhabditis elegans)    		 Secernentea F53A3.23
    polh-11    		 Protein POLH-11 35(a)3
    47.75(n)1
    38.53(a)1    		   III(2016938-2022075)3
    1753371  NM_065079.21  NP_497480.21 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons POLH1 DNA polymerase eta subunit 49.64(n)
    42.49(a)    		   834503  NM_123841.4  NP_568638.2 
    rice
    (Oryza sativa)    		 Liliopsida Os01g07578001 hypothetical protein 49.61(n)
    46.03(a)    		   4325305  NM_001050832.1  NP_001044297.1 
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria dinB6
    		 DNA polymerase IV
    		 28(a)
    		 1 → many
    		 Chromosome(250898-251953)


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

    Paralogs
    for POLH gene

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

    POLH for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for POLH
    PGOHUM00000240518


    Genomic Variants
    for POLH gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/804 NCBI SNPs in POLH are shown (see all 804)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 6 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs563073551,2
    		C,pathogenic71234865(+) AGCAGA/GAAAGT 2 K E mis12Minor allele frequency- G:0.00EA NA 4646
    rs750146931,2
    		F,--43261207(+) AAGTGA/GGCCGA 1 -- us2k11Minor allele frequency- G:0.03WA 118
    rs734267951,2
    		--43261246(+) AACCAC/GAGTGA 1 -- us2k10--------
    rs1149252481,2
    		C,F,--43261693(+) AAATGC/AGGTAA 1 -- us2k11Minor allele frequency- A:0.04WA 118
    rs39061651,2
    		C,H--43261720(-) GTCACC/TTAAAT 1 -- us2k15Minor allele frequency- T:0.00NS EA NA 420
    rs760804261,2
    		F,--43261733(+) GAACAT/CGCAGA 1 -- us2k11Minor allele frequency- C:0.04WA 118
    rs748438421,2
    		--43261901(+) TAACAT/ACACTT 1 -- us2k11Minor allele frequency- A:0.01NA 120
    rs92839111,2
    		C,F,--43262161(+) CATGGG/AAGAAG 1 -- us2k19Minor allele frequency- A:0.03NS CSA WA 950
    rs1130945101,2
    		--43262335(+) GAAGCC/TGGTGT 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs764722741,2
    		F,--43262414(+) CGAGGG/ATCATG 1 -- us2k13Minor allele frequency- A:0.09CSA WA 122

    HapMap Linkage Disequilibrium report for POLH (43543878 - 43588260 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for POLH: --
    Human Gene Mutation Database (HGMD): POLH

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing POLH
    DNA2.0 Custom Variant and Variant Library Synthesis for POLH

    Disorders / Diseases
    for POLH gene

    (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
    POLH for disorders           About GeneDecksing

    OMIM gene information: 603968   
    OMIM disorders: 278750  
    UniProtKB/Swiss-Prot: POLH_HUMAN, Q9Y253
  • Defects in POLH are the cause of xeroderma pigmentosum variant type (XPV) [MIM:278750]; also designated as
    • XP-V. Xeroderma pigmentosum (XP) is an autosomal recessive disease due to deficient nucleotide excision repair. It is
    characterized by hypersensitivity of the skin to sunlight, followed by high incidence of skin cancer and frequent
    neurologic abnormalities. XPV shows normal nucleotide excision repair, but an exaggerated delay in recovery of
    replicative DNA synthesis. Most XPV patients 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

    15 diseases for POLH:    About MalaCards
    xeroderma pigmentosum    xeroderma pigmentosum, variant type    autosomal recessive disease    herpes simplex
    cockayne syndrome    werner syndrome    skin cancer    squamous cell carcinoma
    stomach cancer    pneumonia    carcinoma    tuberculosis
    melanoma    hepatitis    mycobacterium tuberculosis

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

    7 Novoseek 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
    Xeroderma Pigmentosum

    Human Genome Epidemiology (HuGE) Navigator: POLH (6 documents)

    Export disorders for POLH gene to outside databases

    Publications
    for POLH gene

    (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 POLH gene, integrated from 9 sources (see all 186):
    (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. (1999)
    2. hRAD30 mutations in the variant form of xeroderma pigmentosum. (PubMed id 10398605)1, 2, 3, 9 Johnson R.E.... Prakash L. (1999)
    3. 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. (2001)
    4. Pirh2 E3 ubiquitin ligase monoubiquitinates DNA polym erase eta to suppress translesion DNA synthesis. (PubMed id 21791603)1, 2 Jung Y.S....Chen X. (2011)
    5. Regulation of translesion synthesis DNA polymerase et a by monoubiquitination. (PubMed id 20159558)1, 2 Bienko M....Dikic I. (2010)
    6. DNA polymerase eta is involved in hypermutation occurring during immunoglobulin class switch recombination. (PubMed id 14734526)1, 2 Faili A.... Weill J.-C. (2004)
    7. Interaction of human DNA polymerase eta with monoubiquitinated PCNA: a possible mechanism for the polymerase switch in response to DNA damage. (PubMed id 15149598)1, 2 Kannouche P.L.... Lehmann A.R. (2004)
    8. 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)
    9. Localization of DNA polymerases eta and iota to the replication machinery is tightly co-ordinated in human cells. (PubMed id 12606586)1, 2 Kannouche P.L.... Lehmann A.R. (2003)
    10. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)

    External Searches for POLH gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing POLH gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5429 HGNC: 9181 AceView: POLH Ensembl:ENSG00000170734 euGenes: HUgn5429
    ECgene: POLH H-InvDB: POLH

    Other Databases showing POLH gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing POLH gene

    (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 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/sites/GeneTests/lab/gene/POLH
    NIEHS-SNPshttp://egp.gs.washington.edu/data/polh/

    Intellectual Property
    for POLH gene

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



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    About This Section

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