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Aliases for POLH Gene

Aliases for POLH Gene

  • Polymerase (DNA Directed), Eta 2 3
  • XPV 3 4 6
  • Xeroderma Pigmentosum Variant Type Protein 3 4
  • RAD30 Homolog A 3 4
  • RAD30A 3 4
  • RAD30 3 4
  • DNA Polymerase Eta 3
  • EC 2.7.7.7 4
  • XP-V 3

External Ids for POLH Gene

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 Chks in Checkpoint Regulation and DNA Repair. 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

Genomic Location for POLH Gene

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

Regulatory Elements 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.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys682, Lys686, Lys694, and Lys709

Other Protein References for POLH Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for POLH Gene

Domains for POLH Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y253

UniProtKB/Swiss-Prot:

POLH_HUMAN
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:
    • Q9Y253
  • Contains 1 umuC domain.:
    • Q9Y253
Family:
  • Belongs to the DNA polymerase type-Y family.:
    • Q9Y253
genes like me logo Genes that share domains with POLH: view

No data available for Gene Families for POLH Gene

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:

miRNA for POLH Gene

miRTarBase miRNAs that target POLH

No data available for Transcription Factor Targeting 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 5
cytosol 3
extracellular 1

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 for POLH Gene

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

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

Compounds for POLH Gene

(8) HMDB Compounds for POLH Gene

Compound Synonyms Cas Number PubMed IDs
dATP
  • 2'-Deoxy-5'-ATP
1927-31-7
dCTP
  • 2'-deoxycytidine-5'-triphosphate
2056-98-6
dGTP
  • 2'-Deoxyguanosine 5'-triphosphate
2564-35-4
Magnesium
  • Magnesium
7439-95-4
Manganese
  • manganese
7439-96-5

(3) Novoseek inferred chemical compound relationships for POLH Gene

Compound -log(P) Hits PubMed IDs
adenine 27.9 1
platinum 16.1 1
cisplatin 14.2 3
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:

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 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 expressions with POLH: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia POLH 35
  • 99.81 (n)
  • 99.72 (a)
POLH 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia POLH 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POLH 36
  • 64 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Polh 35
  • 82.34 (n)
  • 79.97 (a)
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
African clawed frog
(Xenopus laevis)
Amphibia Xl.16068 35
tropical clawed frog
(Silurana tropicalis)
Amphibia polh 35
  • 66.8 (n)
  • 68.65 (a)
zebrafish
(Danio rerio)
Actinopterygii polh 35
  • 58.11 (n)
  • 56.42 (a)
polh 36
  • 47 (a)
OneToOne
wufc50a12 35
fruit fly
(Drosophila melanogaster)
Insecta DNApol-eta 36
  • 28 (a)
OneToOne
DNApol-eegr 37
  • 39 (a)
worm
(Caenorhabditis elegans)
Secernentea polh-1 35
  • 48.26 (n)
  • 39.1 (a)
polh-1 36
  • 33 (a)
OneToOne
F53A3.2 37
  • 35 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RAD30 38
REV1 36
  • 9 (a)
OneToMany
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

Selected 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

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

(1) OMIM Diseases for POLH Gene (603968)

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.

(2) University of Copenhagen DISEASES for POLH Gene

(7) Novoseek inferred disease relationships for POLH Gene

Disease -log(P) Hits PubMed IDs
xeroderma pigmentosum 91.5 23
xeroderma 87.1 1
skin cancer 75.7 9
somatic mutations 19.4 1
cancer 17.7 4

Relevant External Links for POLH

GeneTests
POLH
GeneReviews
POLH
Genetic Association Database (GAD)
POLH
Human Genome Epidemiology (HuGE) Navigator
POLH
genes like me logo Genes that share disorders with POLH: view

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 3 4 23
  2. hRAD30 mutations in the variant form of xeroderma pigmentosum. (PMID: 10398605) Johnson R.E. … Prakash L. (Science 1999) 2 3 4 23
  3. DNA polymerase eta is an A-T mutator in somatic hypermutation of immunoglobulin variable genes. (PMID: 11376341) Zeng X. … Gearhart P.J. (Nat. Immunol. 2001) 3 4 23
  4. Variants of the xeroderma pigmentosum variant gene (POLH) are associated with melanoma risk. (PMID: 19477635) Di Lucca J. … Soufir N. (Eur. J. Cancer 2009) 3 23 48
  5. Genomic structure, chromosomal localization and identification of mutations in the xeroderma pigmentosum variant (XPV) gene. (PMID: 11032022) Yuasa M. … Hanaoka F. (Oncogene 2000) 3 4

Products for POLH Gene

Sources for POLH Gene

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