ERCC4

GPTKB entity

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