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Q92889

- XPF_HUMAN

UniProt

Q92889 - XPF_HUMAN

Protein

DNA repair endonuclease XPF

Gene

ERCC4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 154 (01 Oct 2014)
      Sequence version 3 (05 May 2009)
      Previous versions | rss
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    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

    Magnesium.

    GO - Molecular functioni

    1. damaged DNA binding Source: UniProtKB
    2. endodeoxyribonuclease activity Source: UniProtKB
    3. protein binding Source: UniProtKB
    4. protein C-terminus binding Source: UniProtKB
    5. protein N-terminus binding Source: UniProtKB
    6. single-stranded DNA binding Source: UniProtKB
    7. single-stranded DNA endodeoxyribonuclease activity Source: RefGenome

    GO - Biological processi

    1. DNA catabolic process, endonucleolytic Source: GOC
    2. DNA repair Source: UniProtKB
    3. double-strand break repair via homologous recombination Source: UniProtKB
    4. negative regulation of telomere maintenance Source: UniProtKB
    5. nucleotide-excision repair Source: UniProtKB
    6. nucleotide-excision repair, DNA damage removal Source: Reactome
    7. nucleotide-excision repair, DNA incision Source: UniProtKB
    8. nucleotide-excision repair, DNA incision, 3'-to lesion Source: UniProtKB
    9. nucleotide-excision repair, DNA incision, 5'-to lesion Source: UniProtKB
    10. nucleotide-excision repair involved in interstrand cross-link repair Source: RefGenome
    11. resolution of meiotic recombination intermediates Source: RefGenome
    12. response to UV Source: UniProtKB
    13. telomere maintenance Source: BHF-UCL
    14. telomere maintenance via telomere shortening Source: BHF-UCL
    15. transcription-coupled nucleotide-excision repair Source: Reactome
    16. UV protection Source: Ensembl

    Keywords - Molecular functioni

    Endonuclease, Hydrolase, Nuclease

    Keywords - Biological processi

    DNA damage, DNA repair

    Keywords - Ligandi

    DNA-binding, Magnesium

    Enzyme and pathway databases

    ReactomeiREACT_1941. Formation of transcription-coupled NER (TC-NER) repair complex.
    REACT_2222. Dual incision reaction in TC-NER.
    REACT_257. Formation of incision complex in GG-NER.
    REACT_311. Dual incision reaction in GG-NER.

    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
    ProteomesiUP000005640: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:3436. ERCC4.

    Subcellular locationi

    Nucleus Curated

    GO - Cellular componenti

    1. chromosome, telomeric region Source: BHF-UCL
    2. nuclear chromosome, telomeric region Source: UniProtKB
    3. nucleoplasm Source: Reactome
    4. nucleotide-excision repair complex Source: MGI
    5. nucleotide-excision repair factor 1 complex Source: UniProtKB
    6. nucleus Source: UniProtKB
    7. transcription factor TFIID complex Source: Ensembl

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760]: 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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti225 – 2251I → M in XP-F. 1 Publication
    VAR_008200
    Natural varianti454 – 4541R → W in XP-F. 1 Publication
    VAR_008201
    Natural varianti490 – 4901R → Q in XP-F. 1 Publication
    VAR_008202
    Natural varianti502 – 5021E → K in XP-F. 1 Publication
    VAR_008203
    Natural varianti513 – 5131G → R in XP-F. 1 Publication
    VAR_008204
    Natural varianti529 – 5291I → T in XP-F. 1 Publication
    VAR_008205
    Natural varianti567 – 5671T → A in XP-F. 1 Publication
    VAR_008206
    Natural varianti605 – 6117Missing in XP-F.
    VAR_008207
    Natural varianti608 – 6081L → P in XP-F. 1 Publication
    VAR_013398
    Natural varianti799 – 7991R → W in XP-F; mild; significant residual repair activity. 2 Publications
    VAR_005850
    XFE progeroid syndrome (XFEPS) [MIM:610965]: 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti153 – 1531R → P in XFEPS. 1 Publication
    VAR_034802
    Xeroderma pigmentosum type F/Cockayne syndrome (XPF/CS) [MIM:278760]: A 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.
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti236 – 2361C → R in XPF/CS. 1 Publication
    VAR_070087
    Natural varianti589 – 5891R → W in XPF/CS. 1 Publication
    VAR_070088
    Fanconi anemia complementation group Q (FANCQ) [MIM:615272]: 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti230 – 2301L → P in FANCQ. 1 Publication
    VAR_070086
    Natural varianti689 – 6891R → S in FANCQ. 1 Publication
    VAR_070089

    Keywords - Diseasei

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

    Organism-specific databases

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

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 916916DNA repair endonuclease XPFPRO_0000198853Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei289 – 2891N6-acetyllysine1 Publication

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiQ92889.
    PaxDbiQ92889.
    PRIDEiQ92889.

    PTM databases

    PhosphoSiteiQ92889.

    Expressioni

    Gene expression databases

    ArrayExpressiQ92889.
    BgeeiQ92889.
    CleanExiHS_ERCC4.
    GenevestigatoriQ92889.

    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
    SLX4Q8IY9210EBI-2370770,EBI-2370740

    Protein-protein interaction databases

    BioGridi108384. 20 interactions.
    DIPiDIP-42006N.
    IntActiQ92889. 8 interactions.
    MINTiMINT-192303.
    STRINGi9606.ENSP00000310520.

    Structurei

    Secondary structure

    1
    916
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Turni835 – 8373
    Helixi839 – 8424
    Helixi850 – 8534
    Helixi860 – 86910
    Beta strandi870 – 8723
    Helixi873 – 8775
    Helixi881 – 8888
    Helixi891 – 90212
    Helixi905 – 9084
    Beta strandi911 – 9133

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1Z00NMR-B834-916[»]
    2A1JX-ray2.70A848-909[»]
    2AQ0NMR-A/B834-916[»]
    2KN7NMR-A/D842-908[»]
    ProteinModelPortaliQ92889.
    SMRiQ92889. Positions 679-916.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ92889.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini683 – 76381ERCC4Add
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 457457Helicase-likeAdd
    BLAST
    Regioni233 – 25422Leucine-zipper 1Add
    BLAST
    Regioni270 – 29829Leucine-zipper 2Add
    BLAST
    Regioni658 – 813156NucleaseAdd
    BLAST
    Regioni837 – 90569HhH2, dimerization with ERCC1Add
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi486 – 4916Nuclear localization signalSequence Analysis

    Sequence similaritiesi

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

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiCOG1948.
    HOGENOMiHOG000202204.
    HOVERGENiHBG051500.
    InParanoidiQ92889.
    KOiK10848.
    OMAiRIIWSSS.
    OrthoDBiEOG7VTDM8.
    PhylomeDBiQ92889.
    TreeFamiTF101234.

    Family and domain databases

    Gene3Di3.40.50.10130. 1 hit.
    InterProiIPR020819. DNA_repair_nuc_XPF/helicase.
    IPR006166. ERCC4_domain.
    IPR006167. Rad1.
    IPR011335. Restrct_endonuc-II-like.
    IPR010994. RuvA_2-like.
    [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. Align

    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

    MESGQPARRI AMAPLLEYER QLVLELLDTD GLVVCARGLG ADRLLYHFLQ    50
    LHCHPACLVL VLNTQPAEEE YFINQLKIEG VEHLPRRVTN EITSNSRYEV 100
    YTQGGVIFAT SRILVVDFLT DRIPSDLITG ILVYRAHRII ESCQEAFILR 150
    LFRQKNKRGF IKAFTDNAVA FDTGFCHVER VMRNLFVRKL YLWPRFHVAV 200
    NSFLEQHKPE VVEIHVSMTP TMLAIQTAIL DILNACLKEL KCHNPSLEVE 250
    DLSLENAIGK PFDKTIRHYL DPLWHQLGAK TKSLVQDLKI LRTLLQYLSQ 300
    YDCVTFLNLL ESLRATEKAF GQNSGWLFLD SSTSMFINAR ARVYHLPDAK 350
    MSKKEKISEK MEIKEGEETK KELVLESNPK WEALTEVLKE IEAENKESEA 400
    LGGPGQVLIC ASDDRTCSQL RDYITLGAEA FLLRLYRKTF EKDSKAEEVW 450
    MKFRKEDSSK RIRKSHKRPK DPQNKERAST KERTLKKKKR KLTLTQMVGK 500
    PEELEEEGDV EEGYRREISS SPESCPEEIK HEEFDVNLSS DAAFGILKEP 550
    LTIIHPLLGC SDPYALTRVL HEVEPRYVVL YDAELTFVRQ LEIYRASRPG 600
    KPLRVYFLIY GGSTEEQRYL TALRKEKEAF EKLIREKASM VVPEEREGRD 650
    ETNLDLVRGT ASADVSTDTR KAGGQEQNGT QQSIVVDMRE FRSELPSLIH 700
    RRGIDIEPVT LEVGDYILTP EMCVERKSIS DLIGSLNNGR LYSQCISMSR 750
    YYKRPVLLIE FDPSKPFSLT SRGALFQEIS SNDISSKLTL LTLHFPRLRI 800
    LWCPSPHATA ELFEELKQSK PQPDAATALA ITADSETLPE SEKYNPGPQD 850
    FLLKMPGVNA KNCRSLMHHV KNIAELAALS QDELTSILGN AANAKQLYDF 900
    IHTSFAEVVS KGKGKK 916
    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 AAB07689.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti33 – 331V → L.
    Corresponds to variant rs34205098 [ dbSNP | Ensembl ].
    VAR_057477
    Natural varianti153 – 1531R → P in XFEPS. 1 Publication
    VAR_034802
    Natural varianti168 – 1681A → V.1 Publication
    Corresponds to variant rs2020961 [ dbSNP | Ensembl ].
    VAR_014769
    Natural varianti225 – 2251I → M in XP-F. 1 Publication
    VAR_008200
    Natural varianti230 – 2301L → P in FANCQ. 1 Publication
    VAR_070086
    Natural varianti236 – 2361C → R in XPF/CS. 1 Publication
    VAR_070087
    Natural varianti379 – 3791P → S.2 Publications
    Corresponds to variant rs1799802 [ dbSNP | Ensembl ].
    VAR_013395
    Natural varianti415 – 4151R → Q.3 Publications
    Corresponds to variant rs1800067 [ dbSNP | Ensembl ].
    VAR_013396
    Natural varianti454 – 4541R → W in XP-F. 1 Publication
    VAR_008201
    Natural varianti490 – 4901R → Q in XP-F. 1 Publication
    VAR_008202
    Natural varianti502 – 5021E → K in XP-F. 1 Publication
    VAR_008203
    Natural varianti513 – 5131G → R in XP-F. 1 Publication
    VAR_008204
    Natural varianti529 – 5291I → T in XP-F. 1 Publication
    VAR_008205
    Natural varianti567 – 5671T → A in XP-F. 1 Publication
    VAR_008206
    Natural varianti576 – 5761R → T.1 Publication
    Corresponds to variant rs1800068 [ dbSNP | Ensembl ].
    VAR_013397
    Natural varianti589 – 5891R → W in XPF/CS. 1 Publication
    VAR_070088
    Natural varianti605 – 6117Missing in XP-F.
    VAR_008207
    Natural varianti608 – 6081L → P in XP-F. 1 Publication
    VAR_013398
    Natural varianti662 – 6621S → P.1 Publication
    Corresponds to variant rs2020955 [ dbSNP | Ensembl ].
    VAR_014770
    Natural varianti689 – 6891R → S in FANCQ. 1 Publication
    VAR_070089
    Natural varianti703 – 7031G → D.1 Publication
    VAR_005849
    Natural varianti706 – 7061I → T.1 Publication
    Corresponds to variant rs1800069 [ dbSNP | Ensembl ].
    VAR_014771
    Natural varianti717 – 7171I → T.1 Publication
    VAR_013399
    Natural varianti768 – 7681S → F.
    Corresponds to variant rs12928650 [ dbSNP | Ensembl ].
    VAR_057478
    Natural varianti799 – 7991R → W in XP-F; mild; significant residual repair activity. 2 Publications
    VAR_005850
    Natural varianti860 – 8601A → D.
    Corresponds to variant rs4986933 [ dbSNP | Ensembl ].
    VAR_057479
    Natural varianti873 – 8731I → V.1 Publication
    Corresponds to variant rs2020957 [ dbSNP | Ensembl ].
    VAR_019201
    Natural varianti875 – 8751E → G.2 Publications
    Corresponds to variant rs1800124 [ dbSNP | Ensembl ].
    VAR_013408
    Natural varianti912 – 9121G → E.
    Corresponds to variant rs2020956 [ dbSNP | Ensembl ].
    VAR_014772

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei368 – 3725ETKKE → GILWG in isoform 2. 1 PublicationVSP_056341
    Alternative sequencei373 – 916544Missing in isoform 2. 1 PublicationVSP_056342Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.
    RefSeqiNP_005227.1. NM_005236.2.
    UniGeneiHs.567265.

    Genome annotation databases

    EnsembliENST00000311895; ENSP00000310520; ENSG00000175595.
    ENST00000575156; ENSP00000459933; ENSG00000175595.
    GeneIDi2072.
    KEGGihsa:2072.
    UCSCiuc002dce.2. human.

    Polymorphism databases

    DMDMi229463004.

    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:
    EMBL
    GenBank
    DDBJ
    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.
    CCDSi CCDS32390.1.
    RefSeqi NP_005227.1. NM_005236.2.
    UniGenei Hs.567265.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1Z00 NMR - B 834-916 [» ]
    2A1J X-ray 2.70 A 848-909 [» ]
    2AQ0 NMR - A/B 834-916 [» ]
    2KN7 NMR - A/D 842-908 [» ]
    ProteinModelPortali Q92889.
    SMRi Q92889. Positions 679-916.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108384. 20 interactions.
    DIPi DIP-42006N.
    IntActi Q92889. 8 interactions.
    MINTi MINT-192303.
    STRINGi 9606.ENSP00000310520.

    PTM databases

    PhosphoSitei Q92889.

    Polymorphism databases

    DMDMi 229463004.

    Proteomic databases

    MaxQBi Q92889.
    PaxDbi Q92889.
    PRIDEi Q92889.

    Protocols and materials databases

    DNASUi 2072.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000311895 ; ENSP00000310520 ; ENSG00000175595 .
    ENST00000575156 ; ENSP00000459933 ; ENSG00000175595 .
    GeneIDi 2072.
    KEGGi hsa:2072.
    UCSCi uc002dce.2. human.

    Organism-specific databases

    CTDi 2072.
    GeneCardsi GC16P014014.
    GeneReviewsi ERCC4.
    H-InvDB HIX0038603.
    HIX0173284.
    HGNCi HGNC:3436. ERCC4.
    HPAi CAB000156.
    HPA045828.
    MIMi 133520. gene.
    278760. phenotype.
    610965. phenotype.
    615272. phenotype.
    neXtProti NX_Q92889.
    Orphaneti 90321. Cockayne syndrome type 1.
    84. Fanconi anemia.
    276264. Xeroderma pigmentosum complementation group F.
    PharmGKBi PA27850.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1948.
    HOGENOMi HOG000202204.
    HOVERGENi HBG051500.
    InParanoidi Q92889.
    KOi K10848.
    OMAi RIIWSSS.
    OrthoDBi EOG7VTDM8.
    PhylomeDBi Q92889.
    TreeFami TF101234.

    Enzyme and pathway databases

    Reactomei REACT_1941. Formation of transcription-coupled NER (TC-NER) repair complex.
    REACT_2222. Dual incision reaction in TC-NER.
    REACT_257. Formation of incision complex in GG-NER.
    REACT_311. Dual incision reaction in GG-NER.

    Miscellaneous databases

    EvolutionaryTracei Q92889.
    GeneWikii ERCC4.
    GenomeRNAii 2072.
    NextBioi 8429.
    PROi Q92889.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q92889.
    Bgeei Q92889.
    CleanExi HS_ERCC4.
    Genevestigatori Q92889.

    Family and domain databases

    Gene3Di 3.40.50.10130. 1 hit.
    InterProi IPR020819. DNA_repair_nuc_XPF/helicase.
    IPR006166. ERCC4_domain.
    IPR006167. Rad1.
    IPR011335. Restrct_endonuc-II-like.
    IPR010994. RuvA_2-like.
    [Graphical view ]
    Pfami PF02732. ERCC4. 1 hit.
    [Graphical view ]
    SMARTi SM00891. ERCC4. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47781. SSF47781. 1 hit.
    SSF52980. SSF52980. 1 hit.
    TIGRFAMsi TIGR00596. rad1. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "ERCC4 (XPF) encodes a human nucleotide excision repair protein with eukaryotic recombination homologs."
      Brookman K.W., Lamerdin J.E., Thelen M.P., Hwang M., Reardon J.T., Sancar A., Zhou Z.-Q., Walter C.A., Parris C.N., Thompson L.H.
      Mol. Cell. Biol. 16:6553-6562(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    2. NIEHS SNPs program
      Submitted (MAR-2002) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS VAL-168; SER-379; GLN-415; PRO-662; THR-706; VAL-873 AND GLY-875.
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT GLN-415.
      Tissue: Brain.
    4. "The sequence and analysis of duplication-rich human chromosome 16."
      Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
      , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
      Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    6. Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 7-916 (ISOFORM 1), VARIANT ASP-703, VARIANT XP-F TRP-799.
      Tissue: Fibroblast.
    7. "A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy."
      Cleaver J.E., Thompson L.H., Richardson A.S., States J.C.
      Hum. Mutat. 14:9-22(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW ON VARIANTS XP-F.
    8. "Mammalian BTBD12/SLX4 assembles a Holliday junction resolvase and is required for DNA repair."
      Svendsen J.M., Smogorzewska A., Sowa M.E., O'Connell B.C., Gygi S.P., Elledge S.J., Harper J.W.
      Cell 138:63-77(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH SLX4.
    9. "Human SLX4 is a Holliday junction resolvase subunit that binds multiple DNA repair/recombination endonucleases."
      Fekairi S., Scaglione S., Chahwan C., Taylor E.R., Tissier A., Coulon S., Dong M.-Q., Ruse C., Yates J.R. III, Russell P., Fuchs R.P., McGowan C.H., Gaillard P.-H.L.
      Cell 138:78-89(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH SLX4.
    10. Cited for: INTERACTION WITH SLX4.
    11. "Drosophila MUS312 and the vertebrate ortholog BTBD12 interact with DNA structure-specific endonucleases in DNA repair and recombination."
      Andersen S.L., Bergstralh D.T., Kohl K.P., LaRocque J.R., Moore C.B., Sekelsky J.
      Mol. Cell 35:128-135(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH SLX4.
    12. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
      Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
      Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-289, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    13. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    14. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    15. "Crystal structure and DNA binding functions of ERCC1, a subunit of the DNA structure-specific endonuclease XPF-ERCC1."
      Tsodikov O.V., Enzlin J.H., Scharer O.D., Ellenberger T.
      Proc. Natl. Acad. Sci. U.S.A. 102:11236-11241(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.7 ANGSTROMS) OF 848-909 IN COMPLEX WITH ERCC1, DNA-BINDING, DOMAINS, SUBUNIT.
    16. "The structure of the human ERCC1/XPF interaction domains reveals a complementary role for the two proteins in nucleotide excision repair."
      Tripsianes K., Folkers G., Ab E., Das D., Odijk H., Jaspers N.G., Hoeijmakers J.H., Kaptein R., Boelens R.
      Structure 13:1849-1858(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: STRUCTURE BY NMR OF 834-916 IN COMPLEX WITH ERCC1, SUBUNIT.
    17. "Nonconservative amino acid substitution variants exist at polymorphic frequency in DNA repair genes in healthy humans."
      Shen M.R., Jones I.M., Mohrenweiser H.
      Cancer Res. 58:604-608(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SER-379.
    18. "Characterization of molecular defects in Xeroderma pigmentosum group F in relation to its clinically mild symptoms."
      Matsumura Y., Nishigori C., Yagi T., Imamura S., Takebe H.
      Hum. Mol. Genet. 7:969-974(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS XP-F MET-225; TRP-454; GLN-490; LYS-502; ARG-513; THR-529; ALA-567; 605-VAL--GLY-611 DEL AND PRO-608.
    19. "Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease."
      Sijbers A.M., van Voorst Vader P.C., Snoek J.W., Raams A., Jaspers N.G.J., Kleijer W.J.
      J. Invest. Dermatol. 110:832-836(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT XP-F TRP-799.
    20. "Polymorphisms in the human DNA repair gene XPF."
      Fan F., Liu C., Tavare S., Arnheim N.
      Mutat. Res. 406:115-120(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS GLN-415; THR-576; THR-717 AND GLY-875.
    21. Cited for: VARIANT XFEPS PRO-153.
    22. Cited for: VARIANTS FANCQ PRO-230 AND SER-689.
    23. "Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia."
      Kashiyama K., Nakazawa Y., Pilz D.T., Guo C., Shimada M., Sasaki K., Fawcett H., Wing J.F., Lewin S.O., Carr L., Li T.S., Yoshiura K., Utani A., Hirano A., Yamashita S., Greenblatt D., Nardo T., Stefanini M.
      , McGibbon D., Sarkany R., Fassihi H., Takahashi Y., Nagayama Y., Mitsutake N., Lehmann A.R., Ogi T.
      Am. J. Hum. Genet. 92:807-819(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS XPF/CS ARG-236 AND TRP-589.

    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: October 1, 2014
    This is version 154 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

    External Data

    Dasty 3