Statements (60)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:DNA
|
| gptkbp:application |
gptkb:gene_therapy
DNA repair mechanisms |
| gptkbp:associated_with |
gptkb:xeroderma_pigmentosum
|
| gptkbp:associated_with_phenotype |
sensitivity to UV light
|
| gptkbp:biomedical_importance |
target for cancer therapies
|
| gptkbp:breeding_range |
2q24.3
|
| gptkbp:cellular_component |
nuclear chromatin
|
| gptkbp:clinical_trial |
important for skin protection
studies on DNA repair disorders |
| gptkbp:code |
gptkb:protein
|
| gptkbp:conservation |
highly conserved across species
|
| gptkbp:diseases |
gptkb:Oncology
xeroderma pigmentosum group B xeroderma pigmentosum type B |
| gptkbp:expression_in_tissues |
skin, liver, lung
|
| gptkbp:function |
DNA repair
|
| gptkbp:functional_assays |
helicase activity assays
|
| gptkbp:gene_expression |
regulated by environmental factors
|
| gptkbp:gene_variants |
single nucleotide polymorphisms
|
| gptkbp:genetic_disorders |
associated with skin cancer risk
|
| gptkbp:genetic_map_position |
2q24.3
|
| gptkbp:genetic_studies |
increased cancer risk
|
| https://www.w3.org/2000/01/rdf-schema#label |
ERCC3
|
| gptkbp:initiated_by |
small molecule inhibitors
|
| gptkbp:interacts_with |
gptkb:ERCC2
|
| gptkbp:involved_in |
nucleotide excision repair
|
| gptkbp:is_expressed_in |
gptkb:Atom
ubiquitous expression |
| gptkbp:is_tested_for |
genetic testing for disorders
|
| gptkbp:known_as |
XPB
|
| gptkbp:located_in |
human chromosome 2
|
| gptkbp:mutation_types |
deletions, insertions, point mutations
|
| gptkbp:nutritional_value |
gptkb:TFIIH_complex
helicase activity contains helicase domain helicase superfamily 2 interacts with other DNA repair proteins nuclear foci |
| gptkbp:orthologs |
ERCC3 in other species
|
| gptkbp:pathological_role |
genetic predisposition to skin cancer
|
| gptkbp:pathway |
DNA damage response
|
| gptkbp:promoter |
gptkb:ERCC3
DNA repair genes DNA repair, nucleotide excision repair |
| gptkbp:protein_complex |
part of TFIIH complex
|
| gptkbp:protein_functionality |
essential for nucleotide excision repair.
|
| gptkbp:protein_modification |
phosphorylation
|
| gptkbp:regulatory_compliance |
transcription factors
|
| gptkbp:research |
ATP binding
CRISPR gene editing |
| gptkbp:research_focus |
cancer biology
|
| gptkbp:role |
unwinding DNA during repair
|
| gptkbp:role_in_cell_cycle |
DNA damage checkpoint
|
| gptkbp:seed_dispersal |
protein-coding gene
|
| gptkbp:therapeutic_targets |
gptkb:cancer_treatment
|
| gptkbp:transcription_start_site |
promoter region
|
| gptkbp:weight |
approximately 75 k Da
|
| gptkbp:bfsParent |
gptkb:XPB_helicase
|
| gptkbp:bfsLayer |
7
|