POLH (polymerase (DNA direct), eta)

2001-02-01 Anne Stary , Alain Sarasin Affiliation

Laboratory of Genetic Instability, Cancer, UPR2169 CNRS, Institut de Recherches sur le Cancer, 7, rue guy Moquet, BP 8, 94801 VILLEJUIF, France

Identity

HGNC

POLH

LOCATION

6p21.1

LOCUSID

5429

ALIAS

RAD30,RAD30A,XP-V,XPV

FUSION GENES

Show Gene Fusions

DNA/RNA

Description

11 exons.

Of the 11 splice donor/acceptor sites, 10 contained consensus GT/AG dinucleotides; only the splice donor site in exon 11 (sequence CT) varied from the consensus pattern.

The POLH gene lacked a TATA sequence in the region upstream of the transcription-initiation site and the upstream region was GC rich (76% in the sequence between +1 and 270).

The first ATG codon for initiation of translation was included in the second exon. Exon 11 contained the termination codon followed by 661 bp of 3-untranslated sequence

Proteins

Function

The POLH gene encodes DNA polymerase h, which catalyzes the translesion synthesis past a cis-syn T-T pyrimidine dimer, one of the major DNA photoproducts induced by UV light

Homology

mXPV: 80.3% amino acids identity and 86.9% similarity

Mutations

Germinal

12 mutated sites involved in the XP variant syndrome

Implicated in

Entity name

xeroderma pigmentosum, XP group V

Disease

predisposition to skin cancer

Bibliography

Pubmed ID	Last Year	Title	Authors

Other Information

Locus ID:

NCBI: 5429
MIM: 603968
HGNC: 9181
Ensembl: ENSG00000170734

Variants:

dbSNP: 5429
ClinVar: 5429
TCGA: ENSG00000170734
COSMIC: POLH

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000170734	ENST00000372226	Q9Y253
ENSG00000170734	ENST00000372236	Q9Y253
ENSG00000170734	ENST00000372236	A0A024RD62
ENSG00000170734	ENST00000443535	Q5JTF2

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Fanconi anemia pathway	KEGG	ko03460
Fanconi anemia pathway	KEGG	hsa03460
DNA Repair	REACTOME	R-HSA-73894
DNA Damage Bypass	REACTOME	R-HSA-73893
Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template	REACTOME	R-HSA-110313
Translesion Synthesis by POLH	REACTOME	R-HSA-110320
Termination of translesion DNA synthesis	REACTOME	R-HSA-5656169
DNA Double-Strand Break Repair	REACTOME	R-HSA-5693532
Homology Directed Repair	REACTOME	R-HSA-5693538
HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA)	REACTOME	R-HSA-5693567
HDR through Homologous Recombination (HRR)	REACTOME	R-HSA-5685942
Platinum drug resistance	KEGG	ko01524
Platinum drug resistance	KEGG	hsa01524

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
37984186	2024	The accurate bypass of pyrimidine dimers by DNA polymerase eta contributes to ultraviolet-induced mutagenesis.	1
37984186	2024	The accurate bypass of pyrimidine dimers by DNA polymerase eta contributes to ultraviolet-induced mutagenesis.	1
36702254	2023	Primer terminal ribonucleotide alters the active site dynamics of DNA polymerase η and reduces DNA synthesis fidelity.	2
36758800	2023	Human DNA polymerase η promotes RNA-templated error-free repair of DNA double-strand breaks.	7
37129084	2023	Mutagenic incorporation of inosine into DNA via T:I mismatch formation by human DNA polymerase eta (polη).	2
37468099	2023	The peroxidation-derived DNA adduct, 6-oxo-M(1)dG, is a strong block to replication by human DNA polymerase η.	1
36702254	2023	Primer terminal ribonucleotide alters the active site dynamics of DNA polymerase η and reduces DNA synthesis fidelity.	2
36758800	2023	Human DNA polymerase η promotes RNA-templated error-free repair of DNA double-strand breaks.	7
37129084	2023	Mutagenic incorporation of inosine into DNA via T:I mismatch formation by human DNA polymerase eta (polη).	2
37468099	2023	The peroxidation-derived DNA adduct, 6-oxo-M(1)dG, is a strong block to replication by human DNA polymerase η.	1
34871863	2022	Incorporation of 5',8-cyclo-2'deoxyadenosines by DNA repair polymerases via base excision repair.	3
35328096	2022	Identification of Frameshift Variants in POLH Gene Causing Xeroderma Pigmentosum in Two Consanguineous Pakistani Families.	0
35952573	2022	Current state of knowledge of human DNA polymerase eta protein structure and disease-causing mutations.	6
34871863	2022	Incorporation of 5',8-cyclo-2'deoxyadenosines by DNA repair polymerases via base excision repair.	3
35328096	2022	Identification of Frameshift Variants in POLH Gene Causing Xeroderma Pigmentosum in Two Consanguineous Pakistani Families.	0

Citation

Anne Stary ; Alain Sarasin

POLH (polymerase (DNA direct), eta)

Atlas Genet Cytogenet Oncol Haematol. 2001-02-01

Online version: http://atlasgeneticsoncology.org/gene/303/gene-fusions-explorer/css/card-gene.css