Entity Details

Primary name XPF_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ92889
EntryNameXPF_HUMAN
FullNameDNA repair endonuclease XPF
TaxID9606
Evidenceevidence at protein level
Length916
SequenceStatuscomplete
DateCreated1997-11-01
DateModified2021-06-02

Ontological Relatives

GenesERCC4

GO terms

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GOName
GO:0000014 single-stranded DNA endodeoxyribonuclease activity
GO:0000109 nucleotide-excision repair complex
GO:0000110 nucleotide-excision repair factor 1 complex
GO:0000712 resolution of meiotic recombination intermediates
GO:0000723 telomere maintenance
GO:0000724 double-strand break repair via homologous recombination
GO:0000781 chromosome, telomeric region
GO:0001094 TFIID-class transcription factor complex binding
GO:0003684 damaged DNA binding
GO:0003697 single-stranded DNA binding
GO:0004520 endodeoxyribonuclease activity
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0006281 DNA repair
GO:0006283 transcription-coupled nucleotide-excision repair
GO:0006289 nucleotide-excision repair
GO:0006293 nucleotide-excision repair, preincision complex stabilization
GO:0006295 nucleotide-excision repair, DNA incision, 3'-to lesion
GO:0006296 nucleotide-excision repair, DNA incision, 5'-to lesion
GO:0006303 double-strand break repair via nonhomologous end joining
GO:0008022 protein C-terminus binding
GO:0009411 response to UV
GO:0009650 UV protection
GO:0010506 regulation of autophagy
GO:0032205 negative regulation of telomere maintenance
GO:0033683 nucleotide-excision repair, DNA incision
GO:0034644 cellular response to UV
GO:0036297 interstrand cross-link repair
GO:0042802 identical protein binding
GO:0047485 protein N-terminus binding
GO:0051974 negative regulation of telomerase activity
GO:0061819 telomeric DNA-containing double minutes formation
GO:0070522 ERCC4-ERCC1 complex
GO:0070911 global genome nucleotide-excision repair
GO:1901255 nucleotide-excision repair involved in interstrand cross-link repair
GO:1904357 negative regulation of telomere maintenance via telomere lengthening
GO:1905765 negative regulation of protection from non-homologous end joining at telomere
GO:1905768 negative regulation of double-stranded telomeric DNA binding
GO:1990841 promoter-specific chromatin binding

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR006166 ERCC4 domainDomainDomain
IPR006167 DNA repair protein XPFFamilyFamily
IPR010994 RuvA domain 2-likeFamilyHomologous superfamily
IPR011335 Restriction endonuclease type II-likeFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
615272 OMIMFanconi anemia complementation group Q (FANCQ)A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. The disease is caused by variants affecting the gene represented in this entry.
610965 OMIMXFE progeroid syndrome (XFEPS)A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment. The disease is caused by variants affecting the gene represented in this entry.
278760 OMIMXeroderma pigmentosum complementation group F (XP-F)An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. XP-F patients show a mild phenotype. The disease is caused by variants affecting the gene represented in this entry.
278760 OMIMXeroderma pigmentosum complementation group F (XP-F)An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. XP-F patients show a mild phenotype. The disease is caused by variants affecting the gene represented in this entry.

Interactions

31 interactions

InteractorPartnerSourcesPublicationsLink
XPF_HUMANSLX4_HUMANBioGRID, HPRD, IntAct19595721 19595722 19596235 19596236 21240275 22902628 23033263 23093618 23623386 23994477 24012755 25538220 26453996 31495888 32398829 details
XPF_HUMANSLX1_HUMANBioGRID, IntAct19595721 19596235 19596236 details
XPF_HUMANERCC1_HUMANBioGRID, DIP, HPRD, IntAct10413517 11160918 14706347 14734547 15932882 16076955 16338413 17289582 17912758 19940136 21466675 21875596 22353549 22939629 23580445 24036546 24780295 25538220 25956741 26085086 26186194 26344197 26453996 28514442 31495888 8197175 9013642 9722633 details
XPF_HUMANTACC1_HUMANBioGRID, IntAct32296183 details
XPF_HUMANXPA_HUMANBioGRID, IntAct26186194 28514442 9013642 details
XPF_HUMANXPF_HUMANBioGRID, DIP15932882 17912758 22483113 details
XPF_HUMANFANCG_HUMANBioGRID20518486 details
XPF_HUMANSUMO2_HUMANBioGRID19394292 25533185 details
XPF_HUMANKIF11_HUMANBioGRID22353549 details
XPF_HUMANRAD52_HUMANBioGRID, HPRD14734547 details
XPF_HUMANRFA1_HUMANBioGRID21875596 9013642 details
XPF_HUMANRFA2_HUMANBioGRID21875596 details
XPF_HUMANSLX4I_HUMANBioGRID, IntAct19596235 31495888 details
XPF_HUMANPLK1_HUMANBioGRID, IntAct19596235 25659891 28514442 details
XPF_HUMANXPC_HUMANMINT19279666 details
XPF_HUMANEME1_HUMANIntAct17289582 details
XPF_HUMANCJ055_HUMANIntAct28514442 details
XPF_HUMANSPTN1_HUMANBioGRID, HPRD11401546 12571280 details
XPF_HUMANFANCA_HUMANBioGRID12571280 details
XPF_HUMANSPTA1_HUMANBioGRID12571280 16889989 details
XPF_HUMANERPG3_HUMANBioGRID20541997 details
XPF_HUMANERCC6_HUMANBioGRID20541997 details
XPF_HUMANTF2H1_HUMANBioGRID, HPRD11259578 details
XPF_HUMANRPB1_HUMANBioGRID16916636 details
XPF_HUMANMSH2_HUMANBioGRID14706347 details
XPF_HUMANUHRF1_HUMANBioGRID25818288 details
XPF_HUMANUBP45_HUMANBioGRID25538220 details
XPF_HUMANFACD2_HUMANBioGRID24794430 31180492 details
XPF_HUMANSHLD2_HUMANBioGRID30154076 details
XPF_HUMANDCAF7_HUMANBioGRID31493872 details
XPF_HUMANRTEL1_HUMANBioGRID32398829 details