Tchem POLH DNA polymerase eta

Protein Summary

Description

DNA polymerase specifically involved in the DNA repair by translesion synthesis (TLS) (PubMed:10385124, PubMed:11743006, PubMed:24449906). 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). 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]

Uniprot Accession IDs

• Q9Y253
• Q7L8E3
• Q96BC4
• Q9BX13

Gene Name

• POLH

Ensembl ID

• ENST00000372226
• ENSP00000361300
• ENSG00000170734
• ENST00000372236
• ENSP00000361310

Symbol

• RAD30
• RAD30A
• XPV
• XPV
• XP-V
• RAD30
• RAD30A

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
virus perturbation	0.98
histone modification site profile	0.91
kinase perturbation	0.88
ligand (protein) perturbation	0.83
small molecule perturbation	0.79

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 193.28   (req: < 5)

Gene RIFs: 121   (req: <= 3)

Antibodies: 182   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 193.28   (req: >= 5)

Gene RIFs: 121   (req: > 3)

Antibodies: 182   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 14

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligands: 2

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

Protein Sequence and Structure

Residue Counts

Protein Sequence

Show Full Sequence

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Related Tools

Target Illumination GWAS Analytics (TIGA)

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GENEVA

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GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Active Ligands (2)

Explore Active Ligands

1 – 2 of 2

Ellagic acid

POLHTchem Enzyme

pIC50 : 7.21

Aurintricarboxylic acid

POLHTchem Enzyme

pIC50 : 7.12

Protein-Protein Interactions (151)

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1 – 10 of 151

• See Interactions on String-DB

LSM5

Tbio

Novelty:  0.12669584

p_int:  0.999999988

p_ni:  1.1e-8

p_wrong:  1e-9

Score:  0.181

Data Source:  BioPlex,STRINGDB

PIP

Tbio

Novelty:  0.00208509

p_int:  0.999999909

p_ni:  8.8e-8

p_wrong:  3e-9

Data Source:  BioPlex

POTEI

Tdark

Novelty:  0.41311202

p_int:  0.999945285

p_ni:  0.000054715

Score:  0.214

Data Source:  BioPlex,STRINGDB

ACTBL2

Tbio

Novelty:  0.18080702

p_int:  0.968615606

p_ni:  0.031384394

Data Source:  BioPlex

ACTB

Tbio

Novelty:  0.00006048

p_int:  0.916188575

p_ni:  0.083811425

Score:  0.19

Data Source:  BioPlex,STRINGDB

TUBA4A

Tchem

Novelty:  0.00820546

p_int:  0.806268415

p_ni:  0.193731585

Data Source:  BioPlex

AHNAK

Tbio

Novelty:  0.01201996

p_int:  0.798738745

p_ni:  0.201261255

Score:  0.189

Data Source:  BioPlex,STRINGDB

PCNA

Tchem

Novelty:  0.03909539

Score:  0.999

Data Source:  Reactome,STRINGDB

REV1

Tbio

Novelty:  0.00294652

Score:  0.99

Data Source:  STRINGDB

RAD51

Tchem

Novelty:  0.00011516

Score:  0.981

Data Source:  STRINGDB

Pathways (11)

Reactome (9)

KEGG (2)

DNA Damage Bypass (R-HSA-73893)

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	DNA Damage Bypass	47 targets	R-HSA-73893
Reactome	DNA Double-Strand Break Repair	146 targets	R-HSA-5693532
Reactome	DNA Repair	306 targets	R-HSA-73894
Reactome	HDR through Homologous Recombination (HRR)	66 targets	R-HSA-5685942
Reactome	HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA)	112 targets	R-HSA-5693567

Name	Explore in Pharos	Explore in Source
DNA Damage Bypass	47 targets	R-HSA-73893
DNA Double-Strand Break Repair	146 targets	R-HSA-5693532
DNA Repair	306 targets	R-HSA-73894
HDR through Homologous Recombination (HRR)	66 targets	R-HSA-5685942
HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA)	112 targets	R-HSA-5693567

Gene Ontology Terms (19)

Functions (3)

Components (5)

Processes (11)

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10

1 – 3 of 3

GO Term	Evidence	Assigned by
DNA-directed DNA polymerase activity	Inferred from Biological aspect of Ancestor (IBA)	GO_Central
damaged DNA binding	Traceable Author Statement (TAS)	ProtInc
metal ion binding	Inferred from Electronic Annotation (IEA)	UniProtKB-KW

GWAS Traits (4)

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GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
platelet count	EFO_0004309	1	1	1		52.7
body mass index	EFO_0004340	2	1	2		52
body height	EFO_0004339	1	1	1		30.2
refractive error measurement	EFO_0007814	1	1	1		17.8

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1 – 4 of 4

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
platelet count	EFO_0004309	1		52.7
body mass index	EFO_0004340	2		52
body height	EFO_0004339	1		30.2
refractive error measurement	EFO_0007814	1		17.8

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UniProt Keyword Find Similar Targets

No Header	No Header
3D-structure
Alternative splicing
Complete proteome
Direct protein sequencing
Disease mutation
DNA damage
DNA repair
DNA replication
DNA synthesis
DNA-binding

GWAS Trait Find Similar Targets

No Header	No Header
body height
body mass index
platelet count
refractive error measurement

MGI Phenotype Find Similar Targets

No Header	No Header
craniofacial phenotype
growth/size/body region phenotype
hearing/vestibular/ear phenotype
hematopoietic system phenotype
immune system phenotype
integument phenotype
neoplasm
pigmentation phenotype

Orthologs (16)

1 – 5 of 16

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	DNA polymerase eta	VGNC:13033	462720
Macaque	DNA polymerase eta		700772
Mouse	polymerase (DNA directed), eta (RAD 30 related)	MGI:1891457	80905
Rat	DNA polymerase eta	RGD:1309893	316235
Dog	DNA polymerase eta	VGNC:44783	474915

Species	Name	OMA	EggNOG	Inparanoid
Chimp	DNA polymerase eta
Macaque	DNA polymerase eta
Mouse	polymerase (DNA directed), eta (RAD 30 related)
Rat	DNA polymerase eta
Dog	DNA polymerase eta

Publication Statistics

PubMed Score 193.28

PubMed score by year

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PubTator Score 180.78

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