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 mutage... See more...

Aliases for POLH Gene

Aliases for POLH Gene

  • DNA Polymerase Eta 2 3 4 5
  • RAD30A 2 3 4
  • Xeroderma Pigmentosum Variant Type Protein 3 4
  • Polymerase (DNA Directed), Eta 2 3
  • Polymerase (DNA) Eta 2 3
  • RAD30 Homolog A 3 4
  • RAD30 3 4
  • XP-V 2 3
  • XPV 3 4
  • EC 2.7.7.7 4
  • POLH 5

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 (DNA Polymerase Eta) is a Protein Coding gene. Diseases associated with POLH include Xeroderma Pigmentosum, Variant Type and Skin Carcinoma. Among its related pathways are Platinum Pathway, Pharmacokinetics/Pharmacodynamics and Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template. Gene Ontology (GO) annotations related to this gene include damaged DNA binding and DNA-directed DNA polymerase activity. An important paralog of this gene is POLI.

UniProtKB/Swiss-Prot Summary for POLH Gene

  • DNA polymerase specifically involved in the DNA repair by translesion synthesis (TLS) (PubMed:10385124, PubMed:11743006, PubMed:24449906, PubMed:24553286, PubMed:16357261). Due to low processivity on both damaged and normal DNA, cooperates with the heterotetrameric (REV3L, REV7, POLD2 and POLD3) POLZ complex for complete bypass of DNA lesions. Inserts one or 2 nucleotide(s) opposite the lesion, the primer is further extended by the tetrameric POLZ complex. In the case of 1,2-intrastrand d(GpG)-cisplatin cross-link, inserts dCTP opposite the 3' guanine (PubMed:24449906). Particularly important for the repair of UV-induced pyrimidine dimers (PubMed:10385124, PubMed:11743006). Although inserts the correct base, may cause base transitions and transversions depending upon the context. May play a role in hypermutation at immunoglobulin genes (PubMed:11376341, PubMed:14734526). Forms a Schiff base with 5'-deoxyribose phosphate at abasic sites, but does not have any lyase activity, preventing the release of the 5'-deoxyribose phosphate (5'-dRP) residue. This covalent trapping of the enzyme by the 5'-dRP residue inhibits its DNA synthetic activity during base excision repair, thereby avoiding high incidence of mutagenesis (PubMed:14630940). Targets POLI to replication foci (PubMed:12606586).

Gene Wiki entry for POLH Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for POLH Gene

Genomics for POLH Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for POLH Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around POLH on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for POLH

Top Transcription factor binding sites by QIAGEN in the POLH gene promoter:
  • Bach2
  • c-Myb
  • CUTL1
  • Elk-1
  • NF-1
  • NF-1/L
  • Nkx2-5
  • RP58
  • STAT3
  • Zic3

Genomic Locations for POLH Gene

Genomic Locations for POLH Gene
chr6:43,576,147-43,620,523
(GRCh38/hg38)
Size:
44,377 bases
Orientation:
Plus strand
chr6:43,543,878-43,588,260
(GRCh37/hg19)
Size:
44,383 bases
Orientation:
Plus strand

Genomic View for POLH Gene

Genes around POLH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POLH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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;
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Interacts with REV1 (By similarity). Interacts with monoubiquitinated PCNA, but not unmodified PCNA (PubMed:15149598). Interacts with POLI; this interaction targets POLI to the replication machinery (PubMed:12606586). Interacts with PALB2 and BRCA2; the interactions are direct and are required to sustain the recruitment of POLH at blocked replication forks and to stimulate POLH-dependent DNA synthesis on D loop substrates (PubMed:24485656). Interacts (via C-terminus) with TRAIP (PubMed:24553286). Interacts with ubiquitin (PubMed:16357261). Interacts with POLDIP2 (PubMed:20554254).

    Three dimensional structures from OCA and Proteopedia for POLH Gene

    Alternative splice isoforms for POLH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for POLH Gene

Post-translational modifications for POLH Gene

  • Monoubiquitinated by RCHY1/PIRH2 (PubMed:20159558, PubMed:21791603). Ubiquitination depends on integrity of the UBZ3-type zinc finger domain and is enhanced by TRAIP (PubMed:24553286, PubMed:16357261). Ubiquitination inhibits the ability of PolH to interact with PCNA and to bypass UV-induced lesions (PubMed:20159558, PubMed:21791603, PubMed:24553286).
  • Ubiquitination at Lys682, Lys686, Lys694, and Lys709
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for POLH Gene

Domains & Families for POLH Gene

Gene Families for POLH Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for POLH Gene

Suggested Antigen Peptide Sequences for POLH Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ52108, highly similar to DNA polymerase eta (EC 2.7.7.7) (B4DG64_HUMAN)
  • Truncated DNA polymerase eta (C4P9N5_HUMAN)
  • Xeroderma pigmentosum variant type protein (POLH_HUMAN)

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.
  • The UBZ3-type zinc finger domain and the PIP-box mediate the interaction with ubiquitinated PCNA and are both necessary for the enzymatic activity in translesion synthesis.
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

UniProtKB/Swiss-Prot Function:
DNA polymerase specifically involved in the DNA repair by translesion synthesis (TLS) (PubMed:10385124, PubMed:11743006, PubMed:24449906, PubMed:24553286, PubMed:16357261). Due to low processivity on both damaged and normal DNA, cooperates with the heterotetrameric (REV3L, REV7, POLD2 and POLD3) POLZ complex for complete bypass of DNA lesions. Inserts one or 2 nucleotide(s) opposite the lesion, the primer is further extended by the tetrameric POLZ complex. In the case of 1,2-intrastrand d(GpG)-cisplatin cross-link, inserts dCTP opposite the 3' guanine (PubMed:24449906). Particularly important for the repair of UV-induced pyrimidine dimers (PubMed:10385124, PubMed:11743006). Although inserts the correct base, may cause base transitions and transversions depending upon the context. May play a role in hypermutation at immunoglobulin genes (PubMed:11376341, PubMed:14734526). Forms a Schiff base with 5'-deoxyribose phosphate at abasic sites, but does not have any lyase activity, preventing the release of the 5'-deoxyribose phosphate (5'-dRP) residue. This covalent trapping of the enzyme by the 5'-dRP residue inhibits its DNA synthetic activity during base excision repair, thereby avoiding high incidence of mutagenesis (PubMed:14630940). Targets POLI to replication foci (PubMed:12606586).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 2'-deoxyribonucleoside 5'-triphosphate + DNA(n) = diphosphate + DNA(n+1); Xref=Rhea:RHEA:22508, Rhea:RHEA-COMP:11130, Rhea:RHEA-COMP:11131, ChEBI:CHEBI:33019, ChEBI:CHEBI:61560, ChEBI:CHEBI:83828; EC=2.7.7.7; Evidence={ECO:0000269|PubMed:27284197};.
UniProtKB/Swiss-Prot EnzymeRegulation:
The enzyme in complex with the DNA substrate binds a third divalent metal cation (PubMed:27284197). The binding of this third divalent cation, which is coordinated by water molecules and two oxygen atoms from DNA and dNTP, is essential for catalyzing the DNA synthesis (PubMed:27284197).
GENATLAS Biochemistry:
polymerase eta,yeast (S cerevisia) RAD30 homolog with a thymine dimer by pass DNA polymerase activity,error free replicator (? relationship with ERCC6)

Enzyme Numbers (IUBMB) for POLH Gene

Phenotypes From GWAS Catalog for POLH Gene

Gene Ontology (GO) - Molecular Function for POLH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003684 damaged DNA binding TAS,IEA --
GO:0003887 DNA-directed DNA polymerase activity TAS --
GO:0005515 protein binding IPI 16763556
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with POLH: view
genes like me logo Genes that share phenotypes with POLH: view

Human Phenotype Ontology for POLH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for POLH Gene

MGI Knock Outs for POLH:

Animal Model Products

  • Taconic Biosciences Mouse Models for POLH

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POLH

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=Binding to ubiquitinated PCNA mediates colocalization to replication foci during DNA replication and persists at sites of stalled replication forks following UV irradiation (PubMed:12606586, PubMed:16357261, PubMed:24553286). After UV irradiation, recruited to DNA damage sites within 1 hour, to a maximum of about 80%; this recruitment may not be not restricted to cells active in DNA replication (PubMed:22801543). Colocalizes with TRAIP to nuclear foci (PubMed:24553286). {ECO:0000269 PubMed:12606586, ECO:0000269 PubMed:16357261, ECO:0000269 PubMed:22801543, ECO:0000269 PubMed:24553286}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for POLH gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
  • Cytosol (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for POLH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0005657 replication fork IBA 21873635
GO:0005829 cytosol IDA --
GO:0035861 site of double-strand break IBA 21873635
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

2 Qiagen pathways for POLH Gene
  • Cell Cycle Control of Chromosomal Replication
  • DNA Repair Mechanisms
1 Cell Signaling Technology pathway 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 IEA,TAS 10871396
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

(10) Drugs for POLH Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved, Experimental, Investigational Pharma 0
Phosphoric acid Approved Pharma 0
Manganese Approved Nutra 56
dATP Experimental Pharma Agonist, Full agonist 0
dctp Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with POLH: view

Transcripts for POLH Gene

mRNA/cDNA for POLH Gene

3 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POLH

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

Expression for POLH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for POLH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Lymph (Hematopoietic System)

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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for POLH

SOURCE GeneReport for Unigene cluster for POLH Gene:

Hs.655467

Evidence on tissue expression from TISSUES for POLH Gene

  • Skin(4.5)
  • Nervous system(2.7)
  • Liver(2.3)
  • Intestine(2.2)
  • Lung(2)
  • Lymph node(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for POLH Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
Regions:
Head and neck:
  • brain
  • eye
  • eyelid
  • face
  • head
Limb:
  • digit
  • foot
  • lower limb
  • toe
General:
  • blood
  • blood vessel
  • skin
genes like me logo Genes that share expression patterns with POLH: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners 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 30 31
  • 99.81 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia POLH 30 31
  • 89.37 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia POLH 30 31
  • 87.29 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Polh 30 17 31
  • 83.77 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Polh 30
  • 82.34 (n)
Oppossum
(Monodelphis domestica)
Mammalia POLH 31
  • 71 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia POLH 31
  • 64 (a)
OneToOne
Chicken
(Gallus gallus)
Aves POLH 30 31
  • 60.67 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia POLH 31
  • 54 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia polh 30
  • 66.8 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16068 30
Zebrafish
(Danio rerio)
Actinopterygii polh 30 31
  • 58.11 (n)
OneToOne
wufc50a12 30
Fruit Fly
(Drosophila melanogaster)
Insecta DNApol-&eegr; 32
  • 39 (a)
DNApol-eta 31
  • 28 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea polh-1 30 31
  • 48.26 (n)
OneToOne
F53A3.2 32
  • 35 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes REV1 31
  • 9 (a)
OneToMany
RAD30 33
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 50 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.951 30
Species where no ortholog for POLH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for POLH: view image

Paralogs for POLH Gene

Paralogs for POLH Gene

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

  • POLH_HUMAN
  • B4DG64_HUMAN
  • C4P9N5_HUMAN
  • Q5JTF2_HUMAN

Pseudogenes.org Pseudogenes for POLH Gene

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

Variants for POLH Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for POLH Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
715798 Likely Benign: not provided 43,614,405(+) T/C SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT
717328 Benign: Xeroderma pigmentosum variant type; not provided 43,613,848(+) C/T MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT
721480 Likely Benign: not provided 43,587,498(+) A/G INTRON_VARIANT
737775 Likely Benign: not provided 43,587,287(+) T/C SYNONYMOUS_VARIANT,INTRON_VARIANT
737975 Likely Benign: not provided 43,582,423(+) C/T MISSENSE_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for POLH Gene

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

Variant ID Type Subtype PubMed ID
nsv5281 CNV deletion 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)

Additional Variant Information for POLH Gene

Human Gene Mutation Database (HGMD)
POLH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
POLH

SNP Genotyping and Copy Number Assay Products

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

Disorders for POLH Gene

MalaCards: The human disease database

(5) MalaCards diseases for POLH Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
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.

Additional Disease Information for POLH

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

No data available for Genatlas for POLH Gene

Publications for POLH Gene

  1. hRAD30 mutations in the variant form of xeroderma pigmentosum. (PMID: 10398605) Johnson RE … Prakash L (Science (New York, N.Y.) 1999) 2 3 4 23
  2. The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta. (PMID: 10385124) Masutani C … Hanaoka F (Nature 1999) 2 3 4 23
  3. Variants of the xeroderma pigmentosum variant gene (POLH) are associated with melanoma risk. (PMID: 19477635) Di Lucca J … Soufir N (European journal of cancer (Oxford, England : 1990) 2009) 3 23 41
  4. DNA polymerase eta is an A-T mutator in somatic hypermutation of immunoglobulin variable genes. (PMID: 11376341) Zeng X … Gearhart PJ (Nature immunology 2001) 3 4 23
  5. Breast cancer proteins PALB2 and BRCA2 stimulate polymerase η in recombination-associated DNA synthesis at blocked replication forks. (PMID: 24485656) Buisson R … Masson JY (Cell reports 2014) 3 4

Products for POLH Gene

  • Signalway Proteins for POLH

Sources for POLH Gene