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POLH (polymerase (DNA direct), eta)

Identity

Other namesXP-V
RAD30A
HGNC (Hugo) POLH
LocusID (NCBI) 5429
Location 6p21.1
Location_base_pair Starts at 43543878 and ends at 43588260 bp from pter ( according to hg19-Feb_2009)  [Mapping]
Note see also the deep insight on: Nucleotide Excision Repair

DNA/RNA

Description 11 exons.
  • Of the 11 splice donor/acceptor sites, 10 contained consensus GT/AG dinucleotides; only the splice donor site in exon 11 (sequence CT) varied from the consensus pattern.
  • The POLH gene lacked a TATA sequence in the region upstream of the transcription-initiation site and the upstream region was GC rich (76% in the sequence between +1 and 270).
  • The first ATG codon for initiation of translation was included in the second exon. Exon 11 contained the termination codon followed by 661 bp of 3'-untranslated sequence
  • Protein

    Description 713 amino acids
    Function The POLH gene encodes DNA polymerase h, which catalyzes the translesion synthesis past a cis-syn T-T pyrimidine dimer, one of the major DNA photoproducts induced by UV light
    Homology mXPV: 80.3% amino acids identity and 86.9% similarity

    Mutations

    Germinal 12 mutated sites involved in the XP variant syndrome

    Implicated in

    Entity xeroderma pigmentosum, XP group V
    Disease predisposition to skin cancer
      

    External links

    Nomenclature
    HGNC (Hugo)POLH   9181
    Cards
    AtlasXPVID303
    Entrez_Gene (NCBI)POLH  5429  polymerase (DNA directed), eta
    GeneCards (Weizmann)POLH
    Ensembl (Hinxton)ENSG00000170734 [Gene_View]  chr6:43543878-43588260 [Contig_View]  POLH [Vega]
    ICGC DataPortalENSG00000170734
    cBioPortalPOLH
    AceView (NCBI)POLH
    Genatlas (Paris)POLH
    WikiGenes5429
    SOURCE (Princeton)NM_006502
    Genomic and cartography
    GoldenPath (UCSC)POLH  -  6p21.1   chr6:43543878-43588260 +  6p21   [Description]    (hg19-Feb_2009)
    EnsemblPOLH - 6p21 [CytoView]
    Mapping of homologs : NCBIPOLH [Mapview]
    OMIM278750   603968   
    Gene and transcription
    Genbank (Entrez)AB024313 AF158185 AJ420484 AK023893 AK025631
    RefSeq transcript (Entrez)NM_006502
    RefSeq genomic (Entrez)AC_000138 NC_000006 NC_018917 NG_009252 NT_007592 NW_001838981 NW_004929326
    Consensus coding sequences : CCDS (NCBI)POLH
    Cluster EST : UnigeneHs.655467 [ NCBI ]
    CGAP (NCI)Hs.655467
    Alternative Splicing : Fast-db (Paris)GSHG0025756
    Alternative Splicing GalleryENSG00000170734
    Gene ExpressionPOLH [ NCBI-GEO ]     POLH [ SEEK ]   POLH [ MEM ]
    Protein : pattern, domain, 3D structure
    UniProt/SwissProtQ9Y253 (Uniprot)
    NextProtQ9Y253  [Medical]
    With graphics : InterProQ9Y253
    Splice isoforms : SwissVarQ9Y253 (Swissvar)
    Catalytic activity : Enzyme2.7.7.7 [ Enzyme-Expasy ]   2.7.7.72.7.7.7 [ IntEnz-EBI ]   2.7.7.7 [ BRENDA ]   2.7.7.7 [ KEGG ]   
    Domaine pattern : Prosite (Expaxy)UMUC (PS50173)   
    Domains : Interpro (EBI)DNA_pol_eta [organisation]   DNA_pol_Y-fam_little_finger [organisation]   DNA_repair_prot_UmuC-like [organisation]   DNA_repair_prot_UmuC-like_N [organisation]  
    Related proteins : CluSTrQ9Y253
    Domain families : Pfam (Sanger)IMS (PF00817)    IMS_C (PF11799)   
    Domain families : Pfam (NCBI)pfam00817    pfam11799   
    DMDM Disease mutations5429
    Blocks (Seattle)Q9Y253
    PDB (SRS)2I5O    2LSK    3MR2    3MR3    3MR5    3MR6    3SI8    3TQ1    4DL2    4DL3    4DL4    4DL5    4DL6    4DL7    4ECQ    4ECR    4ECS    4ECT    4ECU    4ECV    4ECW    4ECX    4ECY    4ECZ    4ED0    4ED1    4ED2    4ED3    4ED6    4ED7    4ED8    4EEY    4J9K    4J9L    4J9M    4J9N    4J9O    4J9P    4J9Q    4J9R    4J9S   
    PDB (PDBSum)2I5O    2LSK    3MR2    3MR3    3MR5    3MR6    3SI8    3TQ1    4DL2    4DL3    4DL4    4DL5    4DL6    4DL7    4ECQ    4ECR    4ECS    4ECT    4ECU    4ECV    4ECW    4ECX    4ECY    4ECZ    4ED0    4ED1    4ED2    4ED3    4ED6    4ED7    4ED8    4EEY    4J9K    4J9L    4J9M    4J9N    4J9O    4J9P    4J9Q    4J9R    4J9S   
    PDB (IMB)2I5O    2LSK    3MR2    3MR3    3MR5    3MR6    3SI8    3TQ1    4DL2    4DL3    4DL4    4DL5    4DL6    4DL7    4ECQ    4ECR    4ECS    4ECT    4ECU    4ECV    4ECW    4ECX    4ECY    4ECZ    4ED0    4ED1    4ED2    4ED3    4ED6    4ED7    4ED8    4EEY    4J9K    4J9L    4J9M    4J9N    4J9O    4J9P    4J9Q    4J9R    4J9S   
    PDB (RSDB)2I5O    2LSK    3MR2    3MR3    3MR5    3MR6    3SI8    3TQ1    4DL2    4DL3    4DL4    4DL5    4DL6    4DL7    4ECQ    4ECR    4ECS    4ECT    4ECU    4ECV    4ECW    4ECX    4ECY    4ECZ    4ED0    4ED1    4ED2    4ED3    4ED6    4ED7    4ED8    4EEY    4J9K    4J9L    4J9M    4J9N    4J9O    4J9P    4J9Q    4J9R    4J9S   
    Human Protein AtlasENSG00000170734 [gene] [tissue] [antibody] [cell] [cancer]
    Peptide AtlasQ9Y253
    HPRD04913
    IPIIPI00008011   IPI00552037   IPI00646080   
    Protein Interaction databases
    DIP (DOE-UCLA)Q9Y253
    IntAct (EBI)Q9Y253
    FunCoupENSG00000170734
    BioGRIDPOLH
    InParanoidQ9Y253
    Interologous Interaction database Q9Y253
    IntegromeDBPOLH
    STRING (EMBL)POLH
    Ontologies - Pathways
    Ontology : AmiGODNA synthesis involved in DNA repair  damaged DNA binding  DNA-directed DNA polymerase activity  protein binding  nucleus  nucleoplasm  nucleolus  cytoplasm  DNA repair  regulation of DNA repair  pyrimidine dimer repair  postreplication repair  response to UV-C  metal ion binding  
    Ontology : EGO-EBIDNA synthesis involved in DNA repair  damaged DNA binding  DNA-directed DNA polymerase activity  protein binding  nucleus  nucleoplasm  nucleolus  cytoplasm  DNA repair  regulation of DNA repair  pyrimidine dimer repair  postreplication repair  response to UV-C  metal ion binding  
    Pathways : KEGGFanconi anemia pathway   
    Protein Interaction DatabasePOLH
    Wikipedia pathwaysPOLH
    Gene fusion - rearrangments
    Polymorphisms : SNP, mutations, diseases
    SNP Single Nucleotide Polymorphism (NCBI)POLH
    snp3D : Map Gene to Disease5429
    SNP (GeneSNP Utah)POLH
    SNP : HGBasePOLH
    Genetic variants : HAPMAPPOLH
    Exome VariantPOLH
    1000_GenomesPOLH 
    ICGC programENSG00000170734 
    Somatic Mutations in Cancer : COSMICPOLH 
    CONAN: Copy Number AnalysisPOLH 
    Mutations and Diseases : HGMDPOLH
    Genomic VariantsPOLH  POLH [DGVbeta]
    dbVarPOLH
    ClinVarPOLH
    Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
    Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
    Diseases
    OMIM278750    603968   
    MedgenPOLH
    GENETestsPOLH
    Disease Genetic AssociationPOLH
    Huge Navigator POLH [HugePedia]  POLH [HugeCancerGEM]
    General knowledge
    Homologs : HomoloGenePOLH
    Homology/Alignments : Family Browser (UCSC)POLH
    Phylogenetic Trees/Animal Genes : TreeFamPOLH
    Chemical/Protein Interactions : CTD5429
    Chemical/Pharm GKB GenePA279
    Clinical trialPOLH
    Cancer Resource (Charite)ENSG00000170734
    Other databases
    Probes
    Litterature
    PubMed129 Pubmed reference(s) in Entrez
    CoreMinePOLH
    iHOPPOLH

    Bibliography

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    Contributor(s)

    Written02-2001Anne Stary and Alain Sarasin

    Citation

    This paper should be referenced as such :
    Stary, A ; Sarasin, A
    POLH (polymerase (DNA direct), eta)
    Atlas Genet Cytogenet Oncol Haematol. 2001;5(2):98-99.
    Free online version   Free pdf version   [Bibliographic record ]
    URL : http://AtlasGeneticsOncology.org/Genes/XPVID303.html

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