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FLASH GENE
Symbol POLH contributors: mct/ - updated : 17-12-2010
HGNC name polymerase (DNA directed), eta
HGNC id 9181
Corresponding disease
XPV1 xeroderma pigmentosum with normal DNA repair rates
Location 6p21.1      Physical location : 43.543.877 - 43.588.259
Synonym name
  • RAD30 homolog A
  • xeroderma pigmentosum variant type protein
    • Synonym symbol(s) RAD30A, XPV, poleta, RAD30, FLJ16395, FLJ21978
    EC.number 2.7.7.7
    DNA
    TYPE functioning gene
    STRUCTURE 44.38 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map pter - D6S616 - D6S1582 - RDS - POLH - D6S1650 - D6S1651 - D6S452 - D6S438 - MUT MUT - D6S269 - cen
    Physical map
    LOC389390 6 LOC389390 RPL24P4 6p21.1 ribosomal protein L24 pseudogene 4 GNMT 6p12 glycine N-methyltransferase PEX6 6p21.1 peroxisomal biogenesis factor 6 PPP2R5D 6p21.1 protein phosphatase 2, regulatory subunit B (B56), delta isoform MEA 6p21.3-p21.1 male-enhanced antigen KLHDC3 6p21.1 kelch domain containing 3 C6orf153 6p21.1 chromosome 6 open reading frame 153 KIAA0076 6p21.1 chromosome 6 open reading frame 153 MRPL2 6p21.3 mitochondrial ribosomal protein L2 KNSL8 6p21.1 kinesin-like 8 PTK7 6p21.1-p12.2 PTK7 protein tyrosine kinase 7 SRF 6p12.3 serum response factor (c-fos serum response element-binding transcription factor) PARC 6p21.1 p53-associated parkin-like cytoplasmic protein C6orf108 6p21.1 chromosome 6 open reading frame 108 TTBK1 6p21.1 tau tubulin kinase 1 SLC22A7 6p21.2-p21.1 solute carrier family 22 (organic anion transporter), member 7 LOC389391 6 similar to thymus LIM protein TLP-B ZNF318 6pter-p12.1 zinc finger protein 318 ABCC10 6p21.2-p21.1 ATP-binding cassette, sub-family C (CFTR/MRP), member 10 EGFL9 6p21.1 EGF-like-domain, multiple 9 TJP4 6p12.3 tight junction protein 4 (peripheral) C6orf154 6p21.1 chromosome 6 open reading frame 154 C6orf109 6p21.1 chromosome 6 open reading frame 109 POLR1C 6p21.1 polymerase(RNA)1 polypeptide C, 30kDa XPO5 6p21.1 exportin 5 POLH 6p21.1-p12 polymerase (DNA directed), eta GTPBP2 6p21-p12 GTP binding protein 2 MAD2L1BP 6p21.1 MAD2L1 binding protein C6orf206 6p21.1 chromosome 6 open reading frame 205 MRPS18A 6p21.3 mitochondrial ribosomal protein S18A VEGF 6p12 vascular endothelial growth factor LOC389392 6 LOC389392 MGC45491 6p21.1 hypothetical protein MGC45491
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 8412 - 713 - 2010 20577208
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • from the N terminus,five highly conserved motifs, I, II, III likely involved in DNA binding and nucleotidyltransferase activities, IV and V representing the helix-hairpin-helix motif
  • two zinc finger domains of C2H2 type in the C terminal region
    • HOMOLOGY
    interspecies homolog to yeast S.cerevisiae RAD30
    homolog to murine Polh
    Homologene
    FAMILY
  • DNA polymerase type-Y family
    • CATEGORY enzyme , DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • polymerase eta, error free replicator, also capable of error prone translesion DNA synthesis in vitro
  • a thymine dimer bypass DNA polymerase activity
  • post replication repair
  • limiting factor for A:T mutations and contributes to the efficient diversification of Ig genes and affinity maturation of antibodies
  • normally required for accurate translesion DNA synthesis (TLS) past UV-induced cyclobutane pyrimidine dimers
  • recruited to sites of replication arrest in a tightly regulated process through interaction with PCNA
  • plays an important role in preventing genome instability after UV- and cisplatin-induced DNA damage
  • DNA polymerase that enables replication through ultraviolet-induced pyrimidine dimers
  • action on ultraviolet-damaged DNA crucial in suppressing the mutagenic and carcinogenic consequences of sun exposure, thereby reducing the incidence of skin cancers in humans
  • acts like a ‘molecular splint’ to stabilize damaged DNA in a normal B-form conformation
    • CELLULAR PROCESS nucleotide, replication
    nucleotide, repair, recombination
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interaction with PCNA
  • RAD18 association with POLH is dependent on CDC7 and is necessary for redistribution of POLH to sites of replication fork stalling
  • RCHY1 is a target of the TP53 tumor suppressor, and monoubiquitinates POLH at one of multiple lysine residues
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) XPV1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    engenders abnormal persistence of stalled replication forks at UV-adducted sites in DNA which, in turn, can actively and/or passively trigger global-genomic nucleotide excision repair inhibition
    Susceptibility to melanoma risk
    Variant & Polymorphism other variants c.1783G, p.595V are associated with melanoma risk
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS