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Protein

DNA repair endonuclease XPF

Gene

ERCC4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Catalytic component of a structure-specific DNA repair endonuclease responsible for the 5-prime incision during DNA repair. Involved in homologous recombination that assists in removing interstrand cross-link.1 Publication

Cofactori

GO - Molecular functioni

  • damaged DNA binding Source: UniProtKB
  • endodeoxyribonuclease activity Source: UniProtKB
  • protein C-terminus binding Source: UniProtKB
  • protein N-terminus binding Source: UniProtKB
  • single-stranded DNA binding Source: UniProtKB
  • single-stranded DNA endodeoxyribonuclease activity Source: GO_Central

GO - Biological processi

  • cellular response to UV Source: BHF-UCL
  • DNA repair Source: UniProtKB
  • double-strand break repair via homologous recombination Source: UniProtKB
  • global genome nucleotide-excision repair Source: Reactome
  • interstrand cross-link repair Source: Reactome
  • negative regulation of telomere maintenance Source: UniProtKB
  • nucleotide-excision repair Source: UniProtKB
  • nucleotide-excision repair, DNA incision Source: UniProtKB
  • nucleotide-excision repair, DNA incision, 3'-to lesion Source: UniProtKB
  • nucleotide-excision repair, DNA incision, 5'-to lesion Source: UniProtKB
  • nucleotide-excision repair, preincision complex stabilization Source: Reactome
  • nucleotide-excision repair involved in interstrand cross-link repair Source: GO_Central
  • resolution of meiotic recombination intermediates Source: GO_Central
  • response to UV Source: UniProtKB
  • telomere maintenance Source: BHF-UCL
  • transcription-coupled nucleotide-excision repair Source: Reactome
  • UV protection Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Endonuclease, Hydrolase, Nuclease

Keywords - Biological processi

DNA damage, DNA repair

Keywords - Ligandi

DNA-binding, Magnesium

Enzyme and pathway databases

BioCyciZFISH:ENSG00000175595-MONOMER.
ReactomeiR-HSA-5685938. HDR through Single Strand Annealing (SSA).
R-HSA-5696395. Formation of Incision Complex in GG-NER.
R-HSA-5696400. Dual Incision in GG-NER.
R-HSA-6782135. Dual incision in TC-NER.
R-HSA-6783310. Fanconi Anemia Pathway.
SIGNORiQ92889.

Names & Taxonomyi

Protein namesi
Recommended name:
DNA repair endonuclease XPF (EC:3.1.-.-)
Alternative name(s):
DNA excision repair protein ERCC-4
DNA repair protein complementing XP-F cells
Xeroderma pigmentosum group F-complementing protein
Gene namesi
Name:ERCC4
Synonyms:ERCC11, XPF
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:3436. ERCC4.

Subcellular locationi

GO - Cellular componenti

  • chromosome, telomeric region Source: BHF-UCL
  • ERCC4-ERCC1 complex Source: BHF-UCL
  • nuclear chromosome, telomeric region Source: UniProtKB
  • nucleoplasm Source: Reactome
  • nucleotide-excision repair complex Source: MGI
  • nucleotide-excision repair factor 1 complex Source: UniProtKB
  • nucleus Source: UniProtKB
  • transcription factor TFIID complex Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Xeroderma pigmentosum complementation group F (XP-F)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:278760
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_008200225I → M in XP-F. 1 PublicationCorresponds to variant rs764731249dbSNPEnsembl.1
Natural variantiVAR_008201454R → W in XP-F. 1 Publication1
Natural variantiVAR_008202490R → Q in XP-F. 1 Publication1
Natural variantiVAR_008203502E → K in XP-F. 1 Publication1
Natural variantiVAR_008204513G → R in XP-F. 1 PublicationCorresponds to variant rs769679311dbSNPEnsembl.1
Natural variantiVAR_008205529I → T in XP-F. 1 Publication1
Natural variantiVAR_008206567T → A in XP-F. 1 Publication1
Natural variantiVAR_008207605 – 611Missing in XP-F. 1 Publication7
Natural variantiVAR_013398608L → P in XP-F. 1 Publication1
Natural variantiVAR_005850799R → W in XP-F; mild; significant residual repair activity. 2 PublicationsCorresponds to variant rs121913049dbSNPEnsembl.1
XFE progeroid syndrome (XFEPS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:610965
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_034802153R → P in XFEPS. 1 PublicationCorresponds to variant rs121913050dbSNPEnsembl.1
Xeroderma pigmentosum type F/Cockayne syndrome (XPF/CS)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA variant form of Cockayne syndrome, a disorder characterized by growth retardation, microcephaly, impairment of nervous system development, pigmentary retinopathy, peculiar facies, and progeria together with abnormal skin photosensitivity. Cockayne syndrome dermatological features are milder than those in xeroderma pigmentosum and skin cancers are not found in affected individuals. XPF/CS patients, however, present with severe skin phenotypes, including severe photosensitivity, abnormal skin pigmentation, and skin cancer predisposition.
See also OMIM:278760
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070087236C → R in XPF/CS. 1 PublicationCorresponds to variant rs397509403dbSNPEnsembl.1
Natural variantiVAR_070088589R → W in XPF/CS. 1 PublicationCorresponds to variant rs147105770dbSNPEnsembl.1
Fanconi anemia complementation group Q (FANCQ)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:615272
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070086230L → P in FANCQ. 1 PublicationCorresponds to variant rs397509402dbSNPEnsembl.1
Natural variantiVAR_070089689R → S in FANCQ; disruption of interstrand cross-link repair activity; no effect on protein stability. 2 PublicationsCorresponds to variant rs149364215dbSNPEnsembl.1
Natural variantiVAR_072087786S → F in FANCQ; disruption of interstrand cross-link repair activity; no effect on protein stability. 1 Publication1

Keywords - Diseasei

Cockayne syndrome, Disease mutation, Dwarfism, Fanconi anemia, Xeroderma pigmentosum

Organism-specific databases

DisGeNETi2072.
MalaCardsiERCC4.
MIMi278760. phenotype.
610965. phenotype.
615272. phenotype.
OpenTargetsiENSG00000175595.
Orphaneti90321. Cockayne syndrome type 1.
84. Fanconi anemia.
276264. Xeroderma pigmentosum complementation group F.
PharmGKBiPA27850.

Polymorphism and mutation databases

BioMutaiERCC4.
DMDMi229463004.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001988531 – 916DNA repair endonuclease XPFAdd BLAST916

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei289N6-acetyllysineCombined sources1
Modified residuei521PhosphoserineBy similarity1
Modified residuei764PhosphoserineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ92889.
MaxQBiQ92889.
PaxDbiQ92889.
PeptideAtlasiQ92889.
PRIDEiQ92889.

PTM databases

iPTMnetiQ92889.
PhosphoSitePlusiQ92889.

Expressioni

Gene expression databases

BgeeiENSG00000175595.
CleanExiHS_ERCC4.
ExpressionAtlasiQ92889. baseline and differential.
GenevisibleiQ92889. HS.

Organism-specific databases

HPAiCAB000156.
HPA045828.

Interactioni

Subunit structurei

Heterodimer composed of ERCC1 and XPF/ERCC4. Interacts with SLX4/BTBD12; this interaction is direct and links the ERCC1-XPF/ERCC1 complex to SLX4, which may coordinate the action of the structure-specific endonuclease during DNA repair.6 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
ERCC1P079928EBI-2370770,EBI-750962
SLX4Q8IY9210EBI-2370770,EBI-2370740

GO - Molecular functioni

  • protein C-terminus binding Source: UniProtKB
  • protein N-terminus binding Source: UniProtKB

Protein-protein interaction databases

BioGridi108384. 34 interactors.
DIPiDIP-42006N.
IntActiQ92889. 15 interactors.
MINTiMINT-192303.
STRINGi9606.ENSP00000310520.

Structurei

Secondary structure

1916
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Turni835 – 837Combined sources3
Helixi839 – 842Combined sources4
Helixi850 – 853Combined sources4
Helixi860 – 869Combined sources10
Beta strandi870 – 872Combined sources3
Helixi873 – 877Combined sources5
Helixi881 – 888Combined sources8
Helixi891 – 902Combined sources12
Helixi905 – 908Combined sources4
Beta strandi911 – 913Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1Z00NMR-B834-916[»]
2A1JX-ray2.70A848-909[»]
2AQ0NMR-A/B834-916[»]
2KN7NMR-A/D842-908[»]
2MUTNMR-B834-916[»]
ProteinModelPortaliQ92889.
SMRiQ92889.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ92889.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini683 – 763ERCC4Add BLAST81

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 457Helicase-likeAdd BLAST457
Regioni233 – 254Leucine-zipper 1Add BLAST22
Regioni270 – 298Leucine-zipper 2Add BLAST29
Regioni658 – 813NucleaseAdd BLAST156
Regioni837 – 905HhH2, dimerization with ERCC1Add BLAST69

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi486 – 491Nuclear localization signalSequence analysis6

Sequence similaritiesi

Belongs to the XPF family.Curated
Contains 1 ERCC4 domain.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0442. Eukaryota.
COG1948. LUCA.
GeneTreeiENSGT00390000004394.
HOGENOMiHOG000202204.
HOVERGENiHBG051500.
InParanoidiQ92889.
KOiK10848.
OMAiVENCVTK.
OrthoDBiEOG091G0554.
PhylomeDBiQ92889.
TreeFamiTF101234.

Family and domain databases

Gene3Di3.40.50.10130. 1 hit.
InterProiIPR020819. DNA_repair_nuc_XPF/helicase.
IPR006166. ERCC4_domain.
IPR011335. Restrct_endonuc-II-like.
IPR010994. RuvA_2-like.
IPR006167. XPF.
[Graphical view]
PfamiPF02732. ERCC4. 1 hit.
[Graphical view]
SMARTiSM00891. ERCC4. 1 hit.
[Graphical view]
SUPFAMiSSF47781. SSF47781. 1 hit.
SSF52980. SSF52980. 1 hit.
TIGRFAMsiTIGR00596. rad1. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q92889-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MESGQPARRI AMAPLLEYER QLVLELLDTD GLVVCARGLG ADRLLYHFLQ
60 70 80 90 100
LHCHPACLVL VLNTQPAEEE YFINQLKIEG VEHLPRRVTN EITSNSRYEV
110 120 130 140 150
YTQGGVIFAT SRILVVDFLT DRIPSDLITG ILVYRAHRII ESCQEAFILR
160 170 180 190 200
LFRQKNKRGF IKAFTDNAVA FDTGFCHVER VMRNLFVRKL YLWPRFHVAV
210 220 230 240 250
NSFLEQHKPE VVEIHVSMTP TMLAIQTAIL DILNACLKEL KCHNPSLEVE
260 270 280 290 300
DLSLENAIGK PFDKTIRHYL DPLWHQLGAK TKSLVQDLKI LRTLLQYLSQ
310 320 330 340 350
YDCVTFLNLL ESLRATEKAF GQNSGWLFLD SSTSMFINAR ARVYHLPDAK
360 370 380 390 400
MSKKEKISEK MEIKEGEETK KELVLESNPK WEALTEVLKE IEAENKESEA
410 420 430 440 450
LGGPGQVLIC ASDDRTCSQL RDYITLGAEA FLLRLYRKTF EKDSKAEEVW
460 470 480 490 500
MKFRKEDSSK RIRKSHKRPK DPQNKERAST KERTLKKKKR KLTLTQMVGK
510 520 530 540 550
PEELEEEGDV EEGYRREISS SPESCPEEIK HEEFDVNLSS DAAFGILKEP
560 570 580 590 600
LTIIHPLLGC SDPYALTRVL HEVEPRYVVL YDAELTFVRQ LEIYRASRPG
610 620 630 640 650
KPLRVYFLIY GGSTEEQRYL TALRKEKEAF EKLIREKASM VVPEEREGRD
660 670 680 690 700
ETNLDLVRGT ASADVSTDTR KAGGQEQNGT QQSIVVDMRE FRSELPSLIH
710 720 730 740 750
RRGIDIEPVT LEVGDYILTP EMCVERKSIS DLIGSLNNGR LYSQCISMSR
760 770 780 790 800
YYKRPVLLIE FDPSKPFSLT SRGALFQEIS SNDISSKLTL LTLHFPRLRI
810 820 830 840 850
LWCPSPHATA ELFEELKQSK PQPDAATALA ITADSETLPE SEKYNPGPQD
860 870 880 890 900
FLLKMPGVNA KNCRSLMHHV KNIAELAALS QDELTSILGN AANAKQLYDF
910
IHTSFAEVVS KGKGKK
Length:916
Mass (Da):104,486
Last modified:May 5, 2009 - v3
Checksum:iC58CDE900378CCA8
GO
Isoform 2 (identifier: Q92889-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     368-372: ETKKE → GILWG
     373-916: Missing.

Note: No experimental confirmation available.
Show »
Length:372
Mass (Da):42,745
Checksum:i98642E13DB2EAF52
GO

Sequence cautioni

The sequence AAB07689 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05747733V → L.Corresponds to variant rs34205098dbSNPEnsembl.1
Natural variantiVAR_072084150R → C Rare functional polymorphism; causes mild disruption of interstrand cross-link repair activity; partial loss of protein stability. 1 PublicationCorresponds to variant rs145402255dbSNPEnsembl.1
Natural variantiVAR_034802153R → P in XFEPS. 1 PublicationCorresponds to variant rs121913050dbSNPEnsembl.1
Natural variantiVAR_014769168A → V.1 PublicationCorresponds to variant rs2020961dbSNPEnsembl.1
Natural variantiVAR_008200225I → M in XP-F. 1 PublicationCorresponds to variant rs764731249dbSNPEnsembl.1
Natural variantiVAR_070086230L → P in FANCQ. 1 PublicationCorresponds to variant rs397509402dbSNPEnsembl.1
Natural variantiVAR_070087236C → R in XPF/CS. 1 PublicationCorresponds to variant rs397509403dbSNPEnsembl.1
Natural variantiVAR_072085267R → H.1 PublicationCorresponds to variant rs143479220dbSNPEnsembl.1
Natural variantiVAR_013395379P → S.2 PublicationsCorresponds to variant rs1799802dbSNPEnsembl.1
Natural variantiVAR_013396415R → Q.3 PublicationsCorresponds to variant rs1800067dbSNPEnsembl.1
Natural variantiVAR_008201454R → W in XP-F. 1 Publication1
Natural variantiVAR_008202490R → Q in XP-F. 1 Publication1
Natural variantiVAR_008203502E → K in XP-F. 1 Publication1
Natural variantiVAR_008204513G → R in XP-F. 1 PublicationCorresponds to variant rs769679311dbSNPEnsembl.1
Natural variantiVAR_008205529I → T in XP-F. 1 Publication1
Natural variantiVAR_008206567T → A in XP-F. 1 Publication1
Natural variantiVAR_013397576R → T.1 PublicationCorresponds to variant rs1800068dbSNPEnsembl.1
Natural variantiVAR_070088589R → W in XPF/CS. 1 PublicationCorresponds to variant rs147105770dbSNPEnsembl.1
Natural variantiVAR_008207605 – 611Missing in XP-F. 1 Publication7
Natural variantiVAR_013398608L → P in XP-F. 1 Publication1
Natural variantiVAR_072086621T → A.1 Publication1
Natural variantiVAR_014770662S → P.1 PublicationCorresponds to variant rs2020955dbSNPEnsembl.1
Natural variantiVAR_070089689R → S in FANCQ; disruption of interstrand cross-link repair activity; no effect on protein stability. 2 PublicationsCorresponds to variant rs149364215dbSNPEnsembl.1
Natural variantiVAR_005849703G → D.1 Publication1
Natural variantiVAR_014771706I → T.1 PublicationCorresponds to variant rs1800069dbSNPEnsembl.1
Natural variantiVAR_013399717I → T.1 Publication1
Natural variantiVAR_057478768S → F.Corresponds to variant rs12928650dbSNPEnsembl.1
Natural variantiVAR_072087786S → F in FANCQ; disruption of interstrand cross-link repair activity; no effect on protein stability. 1 Publication1
Natural variantiVAR_005850799R → W in XP-F; mild; significant residual repair activity. 2 PublicationsCorresponds to variant rs121913049dbSNPEnsembl.1
Natural variantiVAR_057479860A → D.Corresponds to variant rs4986933dbSNPEnsembl.1
Natural variantiVAR_019201873I → V.1 PublicationCorresponds to variant rs2020957dbSNPEnsembl.1
Natural variantiVAR_013408875E → G.2 PublicationsCorresponds to variant rs1800124dbSNPEnsembl.1
Natural variantiVAR_014772912G → E.Corresponds to variant rs2020956dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_056341368 – 372ETKKE → GILWG in isoform 2. 1 Publication5
Alternative sequenceiVSP_056342373 – 916Missing in isoform 2. 1 PublicationAdd BLAST544

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L77890 Genomic DNA. Translation: AAB50174.1.
AF491814 Genomic DNA. Translation: AAL91593.1.
AK289726 mRNA. Translation: BAF82415.1.
AC010401 Genomic DNA. No translation available.
BC142631 mRNA. Translation: AAI42632.1.
U64315 mRNA. Translation: AAB07689.1. Different initiation.
CCDSiCCDS32390.1. [Q92889-1]
RefSeqiNP_005227.1. NM_005236.2. [Q92889-1]
UniGeneiHs.567265.

Genome annotation databases

EnsembliENST00000311895; ENSP00000310520; ENSG00000175595. [Q92889-1]
ENST00000575156; ENSP00000459933; ENSG00000175595. [Q92889-2]
GeneIDi2072.
KEGGihsa:2072.
UCSCiuc002dce.3. human. [Q92889-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Allelic variations of the XP genes
Atlas of Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L77890 Genomic DNA. Translation: AAB50174.1.
AF491814 Genomic DNA. Translation: AAL91593.1.
AK289726 mRNA. Translation: BAF82415.1.
AC010401 Genomic DNA. No translation available.
BC142631 mRNA. Translation: AAI42632.1.
U64315 mRNA. Translation: AAB07689.1. Different initiation.
CCDSiCCDS32390.1. [Q92889-1]
RefSeqiNP_005227.1. NM_005236.2. [Q92889-1]
UniGeneiHs.567265.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1Z00NMR-B834-916[»]
2A1JX-ray2.70A848-909[»]
2AQ0NMR-A/B834-916[»]
2KN7NMR-A/D842-908[»]
2MUTNMR-B834-916[»]
ProteinModelPortaliQ92889.
SMRiQ92889.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108384. 34 interactors.
DIPiDIP-42006N.
IntActiQ92889. 15 interactors.
MINTiMINT-192303.
STRINGi9606.ENSP00000310520.

PTM databases

iPTMnetiQ92889.
PhosphoSitePlusiQ92889.

Polymorphism and mutation databases

BioMutaiERCC4.
DMDMi229463004.

Proteomic databases

EPDiQ92889.
MaxQBiQ92889.
PaxDbiQ92889.
PeptideAtlasiQ92889.
PRIDEiQ92889.

Protocols and materials databases

DNASUi2072.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000311895; ENSP00000310520; ENSG00000175595. [Q92889-1]
ENST00000575156; ENSP00000459933; ENSG00000175595. [Q92889-2]
GeneIDi2072.
KEGGihsa:2072.
UCSCiuc002dce.3. human. [Q92889-1]

Organism-specific databases

CTDi2072.
DisGeNETi2072.
GeneCardsiERCC4.
GeneReviewsiERCC4.
H-InvDBHIX0038603.
HIX0173284.
HGNCiHGNC:3436. ERCC4.
HPAiCAB000156.
HPA045828.
MalaCardsiERCC4.
MIMi133520. gene.
278760. phenotype.
610965. phenotype.
615272. phenotype.
neXtProtiNX_Q92889.
OpenTargetsiENSG00000175595.
Orphaneti90321. Cockayne syndrome type 1.
84. Fanconi anemia.
276264. Xeroderma pigmentosum complementation group F.
PharmGKBiPA27850.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0442. Eukaryota.
COG1948. LUCA.
GeneTreeiENSGT00390000004394.
HOGENOMiHOG000202204.
HOVERGENiHBG051500.
InParanoidiQ92889.
KOiK10848.
OMAiVENCVTK.
OrthoDBiEOG091G0554.
PhylomeDBiQ92889.
TreeFamiTF101234.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000175595-MONOMER.
ReactomeiR-HSA-5685938. HDR through Single Strand Annealing (SSA).
R-HSA-5696395. Formation of Incision Complex in GG-NER.
R-HSA-5696400. Dual Incision in GG-NER.
R-HSA-6782135. Dual incision in TC-NER.
R-HSA-6783310. Fanconi Anemia Pathway.
SIGNORiQ92889.

Miscellaneous databases

EvolutionaryTraceiQ92889.
GeneWikiiERCC4.
GenomeRNAii2072.
PROiQ92889.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000175595.
CleanExiHS_ERCC4.
ExpressionAtlasiQ92889. baseline and differential.
GenevisibleiQ92889. HS.

Family and domain databases

Gene3Di3.40.50.10130. 1 hit.
InterProiIPR020819. DNA_repair_nuc_XPF/helicase.
IPR006166. ERCC4_domain.
IPR011335. Restrct_endonuc-II-like.
IPR010994. RuvA_2-like.
IPR006167. XPF.
[Graphical view]
PfamiPF02732. ERCC4. 1 hit.
[Graphical view]
SMARTiSM00891. ERCC4. 1 hit.
[Graphical view]
SUPFAMiSSF47781. SSF47781. 1 hit.
SSF52980. SSF52980. 1 hit.
TIGRFAMsiTIGR00596. rad1. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiXPF_HUMAN
AccessioniPrimary (citable) accession number: Q92889
Secondary accession number(s): A5PKV6
, A8K111, O00140, Q8TD83
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: May 5, 2009
Last modified: November 30, 2016
This is version 177 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.