POLH (DNA polymerase eta)
| Gene | |
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
5429 |
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
DNA polymerase eta |
|
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
POLH |
|
Synonyms (NCBI Gene)
Gene synonyms aliases
|
RAD30, RAD30A, XP-V, XPV |
|
Chromosome
Chromosome number
|
6 |
|
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
6p21.1 |
|
Summary
Summary of gene provided in NCBI Entrez 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 polymeras |
|
SNPs
SNP information provided by dbSNP.
|
|||||||||||||||||||||||||
|
|||||||||||||||||||||||||
|
miRNA
miRNA information provided by mirtarbase database.
|
|||||||||||||||||||||||||
|
|||||||||||||||||||||||||
| Transcription factors | |||||||
|
|||||||
|
Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
|
|||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||
|
Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|||||||
|
|||||||
| Protein | |||||||||||||||||||||
| UniProt ID | Q9Y253 | ||||||||||||||||||||
| Protein name | DNA polymerase eta (EC 2.7.7.7) (RAD30 homolog A) (Xeroderma pigmentosum variant type protein) | ||||||||||||||||||||
| Protein function | DNA polymerase specifically involved in the DNA repair by translesion synthesis (TLS) (PubMed:10385124, PubMed:11743006, PubMed:16357261, PubMed:24449906, PubMed:24553286, PubMed:38212351). Due to low processivity on both damaged and normal DNA, | ||||||||||||||||||||
| PDB | 2I5O , 2LSK , 3JAA , 3MR2 , 3MR3 , 3MR5 , 3MR6 , 3SI8 , 3TQ1 , 3WUP , 4DL2 , 4DL3 , 4DL4 , 4DL5 , 4DL6 , 4DL7 , 4ECQ , 4ECR , 4ECS , 4ECT , 4ECU , 4ECV , 4ECW , 4ECX , 4ECY , 4ECZ , 4ED0 , 4ED1 , 4ED2 , 4ED3 , 4ED6 , 4ED7 , 4ED8 , 4EEY , 4J9K , 4J9L , 4J9M , 4J9N , 4J9O , 4J9P , 4J9Q , 4J9R , 4J9S , 4O3N , 4O3O , 4O3P , 4O3Q , 4O3R , 4O3S , 4Q8E , 4Q8F | ||||||||||||||||||||
| Family and domains |
Pfam
|
||||||||||||||||||||
| Sequence |
|
||||||||||||||||||||
| Sequence length | 713 | ||||||||||||||||||||
| Interactions | View interactions | ||||||||||||||||||||
|
Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
|
|||||||||
|
|||||||||
|
Associated diseases
Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
|
|||||||||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||||||||