Statements (65)
Predicate | Object |
---|---|
gptkbp:instance_of |
gptkb:DNA
|
gptkbp:alias |
XPF
|
gptkbp:application |
DNA repair
|
gptkbp:associated_with |
gptkb:neurodegenerative_diseases
cellular aging developmental disorders cancer predisposition genetic instability photosensitivity neoplasia increased mutation rates increased risk of melanoma repair of oxidative DNA damage sensitivity to ionizing radiation Xeroderma pigmentosum defective DNA crosslink repair defective nucleotide excision repair defective repair of DNA double-strand breaks defective repair of UV-induced DNA damage defective repair of bulky DNA adducts defective repair of interstrand cross-links. impaired DNA repair increased risk of basal cell carcinoma increased risk of non-melanoma skin cancer increased risk of skin lesions increased risk of squamous cell carcinoma increased sensitivity to DNA-damaging agents increased skin cancer risk sensitivity to UV light xeroderma pigmentosum type F |
gptkbp:breeding_range |
16p13.3
|
gptkbp:clinical_trial |
important for skin protection
|
gptkbp:code |
nuclease
|
gptkbp:discovery_year |
gptkb:1992
|
gptkbp:diseases |
Xeroderma pigmentosum group F
|
gptkbp:function |
DNA repair
|
gptkbp:genetic_studies |
increased cancer risk
homozygous mutations |
gptkbp:has_role |
cellular response to DNA damage
|
https://www.w3.org/2000/01/rdf-schema#label |
ERCC4
|
gptkbp:interacts_with |
ERCC1
|
gptkbp:involved_in |
cell cycle regulation
cellular response to stress genome stability nucleotide excision repair cellular repair mechanisms repair of interstrand cross-links |
gptkbp:is_expressed_in |
various tissues
ubiquitous |
gptkbp:is_tested_for |
available for mutations
|
gptkbp:located_in |
gptkb:human_chromosome_16
|
gptkbp:nutritional_value |
ERCC4 protein
with ERCC1 protein |
gptkbp:orthologous_gene |
XPF in mice
|
gptkbp:orthologs |
found in other species
|
gptkbp:pathway |
DNA repair pathway
|
gptkbp:promoter |
gptkb:ERCC4
DNA repair, nucleotide excision repair nuclease family |
gptkbp:protein_length |
740 amino acids
|
gptkbp:research |
nuclease activity
|
gptkbp:research_focus |
genetic disorders
|
gptkbp:seed_dispersal |
protein-coding gene
|
gptkbp:bfsParent |
gptkb:XPF_protein
|
gptkbp:bfsLayer |
7
|