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Aliases for POLH Gene

Aliases for POLH Gene

  • Polymerase (DNA Directed), Eta 2 3
  • Xeroderma Pigmentosum Variant Type Protein 3 4
  • RAD30 Homolog A 3 4
  • RAD30A 3 4
  • RAD30 3 4
  • XPV 3 4
  • EC 2.7.7.7 4
  • XP-V 3

External Ids for POLH Gene

Previous GeneCards Identifiers for POLH Gene

  • GC06P043546
  • GC06P043590
  • GC06P043651
  • GC06P043264
  • GC06P043543

Summaries for POLH Gene

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. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]

GeneCards Summary for POLH Gene

POLH (Polymerase (DNA Directed), Eta) is a Protein Coding gene. Diseases associated with POLH include xeroderma pigmentosum, variant type and polh-related xeroderma pigmentosum. Among its related pathways are DNA Damage and Chks in Checkpoint Regulation. GO annotations related to this gene include damaged DNA binding and DNA-directed DNA polymerase activity. An important paralog of this gene is POLK.

UniProtKB/Swiss-Prot for POLH Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POLH Gene

Genomics for POLH Gene

Regulatory Elements for POLH Gene

Genomic Location for POLH Gene

Chromosome:
6
Start:
43,576,141 bp from pter
End:
43,620,523 bp from pter
Size:
44,383 bases
Orientation:
Plus strand

Genomic View for POLH Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for POLH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POLH Gene

Proteins for POLH Gene

  • Protein details for POLH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y253-POLH_HUMAN
    Recommended name:
    DNA polymerase eta
    Protein Accession:
    Q9Y253
    Secondary Accessions:
    • Q7L8E3
    • Q96BC4
    • Q9BX13

    Protein attributes for POLH Gene

    Size:
    713 amino acids
    Molecular mass:
    78413 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Note=Divalent metal cations. Prefers Mg(2+), but can also use Mn(2+).;
    Quaternary structure:
    • Interacts with REV1. Interacts with monoubiquitinated PCNA, but not unmodified PCNA. Interacts with POLI. Interacts with PALB2 and BRCA2; the interactions are direct and are involved in POLH localization at collapsed replication forks and DNA polymerization activity.

    Three dimensional structures from OCA and Proteopedia for POLH Gene

    Alternative splice isoforms for POLH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for POLH Gene

Proteomics data for POLH Gene at MOPED

Post-translational modifications for POLH Gene

  • Monoubiquitinated by RCHY1/PIRH2; ubiquitination inhibits the ability of PolH to interact with PCNA and to bypass UV-induced lesions.
  • Ubiquitination at Lys 682, Lys 686, Lys 694, and Lys 709
  • Modification sites at PhosphoSitePlus

Other Protein References for POLH Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for POLH (POLH)

No data available for DME Specific Peptides for POLH Gene

Domains & Families for POLH Gene

Gene Families for POLH Gene

Protein Domains for POLH Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y253

UniProtKB/Swiss-Prot:

POLH_HUMAN :
  • 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
  • Belongs to the DNA polymerase type-Y family.
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
  • Contains 1 umuC domain.
Family:
  • Belongs to the DNA polymerase type-Y family.
genes like me logo Genes that share domains with POLH: view

Function for POLH Gene

Molecular function for POLH Gene

GENATLAS Biochemistry:
polymerase eta,yeast (S cerevisia) RAD30 homolog with a thymine dimer by pass DNA polymerase activity,error free replicator (? relationship with ERCC6)
UniProtKB/Swiss-Prot CatalyticActivity:
Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1)
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for POLH Gene

Gene Ontology (GO) - Molecular Function for POLH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003684 damaged DNA binding IEA --
GO:0003887 DNA-directed DNA polymerase activity IEA --
GO:0005515 protein binding IPI 16763556
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with POLH: view
genes like me logo Genes that share phenotypes with POLH: view

Animal Models for POLH Gene

MGI Knock Outs for POLH:

Animal Model Products

miRNA for POLH Gene

miRTarBase miRNAs that target POLH

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for POLH

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for POLH Gene

Localization for POLH Gene

Subcellular locations from UniProtKB/Swiss-Prot for POLH Gene

Nucleus. Note=Accumulates at replication forks after DNA damage.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for POLH Gene COMPARTMENTS Subcellular localization image for POLH gene
Compartment Confidence
nucleus 4
cytosol 2

Gene Ontology (GO) - Cellular Components for POLH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with POLH: view

Pathways & Interactions for POLH Gene

genes like me logo Genes that share pathways with POLH: view

Pathways by source for POLH Gene

SIGNOR curated interactions for POLH Gene

Is activated by:

Gene Ontology (GO) - Biological Process for POLH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000731 DNA synthesis involved in DNA repair IDA 17563354
GO:0006260 DNA replication IEA --
GO:0006281 DNA repair TAS --
GO:0006282 regulation of DNA repair TAS 10398605
GO:0006290 pyrimidine dimer repair IEA --
genes like me logo Genes that share ontologies with POLH: view

Drugs & Compounds for POLH Gene

(9) Drugs for POLH Gene - From: HMDB and NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Platinum, Potent pro-apoptotic anticancer agent; activates caspase-3 2437
Adenine Approved Nutra 0
dctp Experimental Pharma 0
Deoxyadenosine triphosphate Experimental Pharma 0
dgtp Experimental Pharma 0

(2) Additional Compounds for POLH Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Thymidine 5'-triphosphate
  • 2'-Deoxythymidine 5'-triphosphate
  • 2'-Deoxythymidine triphosphate
  • 5'-TTP
  • 5-Methyl-dUTP
  • Deoxy-TTP
365-08-2
genes like me logo Genes that share compounds with POLH: view

Transcripts for POLH Gene

Unigene Clusters for POLH Gene

Polymerase (DNA directed), eta:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for POLH

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for POLH Gene

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: - - - - -
SP6: - -

Relevant External Links for POLH Gene

GeneLoc Exon Structure for
POLH
ECgene alternative splicing isoforms for
POLH

Expression for POLH Gene

mRNA expression in normal human tissues for POLH Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for POLH Gene



SOURCE GeneReport for Unigene cluster for POLH Gene Hs.655467

genes like me logo Genes that share expression patterns with POLH: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for POLH Gene

Orthologs for POLH Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for POLH Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia POLH 35
  • 87.29 (n)
  • 82.7 (a)
POLH 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia POLH 35
  • 89.37 (n)
  • 87.73 (a)
POLH 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Polh 35
  • 83.77 (n)
  • 81.56 (a)
Polh 16
Polh 36
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia POLH 35
  • 99.81 (n)
  • 99.72 (a)
POLH 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Polh 35
  • 82.34 (n)
  • 79.97 (a)
oppossum
(Monodelphis domestica)
Mammalia POLH 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POLH 36
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves POLH 35
  • 60.67 (n)
  • 58.76 (a)
POLH 36
  • 47 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia POLH 36
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia polh 35
  • 66.8 (n)
  • 68.65 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16068 35
zebrafish
(Danio rerio)
Actinopterygii polh 35
  • 58.11 (n)
  • 56.42 (a)
wufc50a12 35
polh 36
  • 47 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta DNApol-eegr 37
  • 39 (a)
DNApol-eta 36
  • 28 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F53A3.2 37
  • 35 (a)
polh-1 35
  • 48.26 (n)
  • 39.1 (a)
polh-1 36
  • 33 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes REV1 36
  • 9 (a)
OneToMany
RAD30 38
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.951 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 50 (a)
OneToOne
Species with no ortholog for POLH:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for POLH Gene

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

Paralogs for POLH Gene

Paralogs for POLH Gene

(1) SIMAP similar genes for POLH Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for POLH Gene

genes like me logo Genes that share paralogs with POLH: view

Variants for POLH Gene

Sequence variations from dbSNP and Humsavar for POLH Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs831920 -- 43,590,743(+) catgg(C/T)gaaac intron-variant
rs831921 -- 43,590,827(+) ctgag(A/G)cagga intron-variant
rs831922 -- 43,590,838(+) gaatc(A/G)cttga intron-variant
rs831923 -- 43,590,887(+) cactg(C/T)actcc intron-variant
rs1064260 -- 43,614,607(+) TACAG(A/G)TCTTT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for POLH Gene

Variant ID Type Subtype PubMed ID
dgv6842n71 CNV Loss 21882294
nsv5281 CNV Loss 18451855

Variation tolerance for POLH Gene

Residual Variation Intolerance Score: 79.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.81; 79.15% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for POLH Gene

HapMap Linkage Disequilibrium report
POLH
Human Gene Mutation Database (HGMD)
POLH

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POLH Gene

Disorders for POLH Gene

MalaCards: The human disease database

(2) MalaCards diseases for POLH Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
xeroderma pigmentosum, variant type
  • de sanctis-cacchione syndrome
polh-related xeroderma pigmentosum
- elite association
Search POLH in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

POLH_HUMAN
  • 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. {ECO:0000269 PubMed:10385124, ECO:0000269 PubMed:10398605, ECO:0000269 PubMed:11032022, ECO:0000269 PubMed:11121129, ECO:0000269 PubMed:11773631, ECO:0000269 PubMed:24130121}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for POLH

Genetic Association Database (GAD)
POLH
Human Genome Epidemiology (HuGE) Navigator
POLH
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
POLH
genes like me logo Genes that share disorders with POLH: view

No data available for Genatlas for POLH Gene

Publications for POLH Gene

  1. The XPV (Xeroderma pigmentosum variant) gene encodes human DNA polymerase eta. (PMID: 10385124) Masutani C. … Hanaoka F. (Nature 1999) 2 23 67
  2. hRAD30 mutations in the variant form of xeroderma pigmentosum. (PMID: 10398605) Johnson R.E. … Prakash L. (Science 1999) 2 23 67
  3. Variations on a theme: eukaryotic Y-family DNA polymerases. (PMID: 19616647) Washington M.T. … Pryor J.M. (Biochim. Biophys. Acta 2010) 23 67
  4. Roles of Rev1, Pol zeta, Pol32 and Pol eta in the bypass of chromosomal abasic sites in Saccharomyces cerevisiae. (PMID: 19901007) Auerbach P.A. … Demple B. (Mutagenesis 2010) 23 67
  5. Pirh2 E3 ubiquitin ligase targets DNA polymerase eta for 20S proteasomal degradation. (PMID: 20008555) Jung Y.S. … Chen X. (Mol. Cell. Biol. 2010) 23 67

Products for POLH Gene

Sources for POLH Gene

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