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Identification
HMDB Protein ID HMDBP08835
Secondary Accession Numbers
  • 14560
Name DNA repair endonuclease XPF
Synonyms
  1. DNA excision repair protein ERCC-4
  2. DNA repair protein complementing XP-F cells
  3. Xeroderma pigmentosum group F-complementing protein
Gene Name ERCC4
Protein Type Unknown
Biological Properties
General Function Involved in DNA binding
Specific Function 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
Pathways
  • Nucleotide Excision Repair
Reactions Not Available
GO Classification
Function
hydrolase activity, acting on ester bonds
binding
catalytic activity
hydrolase activity
protein binding
nucleic acid binding
dna binding
nuclease activity
endonuclease activity
Process
metabolic process
macromolecule metabolic process
cellular macromolecule metabolic process
dna metabolic process
dna repair
Cellular Location
  1. Nucleus (Probable)
Gene Properties
Chromosome Location Chromosome:1
Locus 16p13.12
SNPs ERCC4
Gene Sequence
>2751 bp
ATGGAGTCAGGGCAGCCGGCTCGACGGATTGCCATGGCGCCGCTGCTGGAGTACGAGCGA
CAGCTGGTGCTGGAACTGCTCGACACTGACGGGCTAGTAGTGTGCGCCCGCGGGCTCGGC
GCGGACCGGCTCCTCTACCACTTTCTCCAGCTGCACTGCCACCCAGCCTGCCTGGTGCTG
GTGCTCAACACGCAGCCGGCCGAGGAGGAGTATTTTATCAATCAGCTGAAGATAGAAGGA
GTTGAACACCTCCCTCGCCGTGTAACAAATGAAATCACAAGCAACAGTCGCTATGAAGTT
TACACACAAGGTGGTGTTATATTTGCGACAAGTAGGATACTTGTGGTTGACTTCTTGACT
GATAGAATACCTTCAGATTTAATTACTGGCATCTTGGTGTATAGAGCCCACAGAATAATC
GAGTCTTGTCAAGAAGCATTCATCTTGCGCCTCTTTCGCCAGAAAAACAAACGTGGTTTT
ATTAAAGCTTTCACAGACAATGCTGTTGCCTTTGATACTGGTTTTTGTCATGTGGAAAGA
GTGATGAGAAATCTTTTTGTGAGGAAACTGTATCTGTGGCCAAGGTTCCATGTAGCAGTA
AACTCATTTTTAGAACAGCACAAACCTGAAGTTGTAGAAATCCATGTTTCTATGACACCT
ACCATGCTTGCTATACAGACTGCTATACTGGACATTTTAAATGCATGTCTAAAGGAACTA
AAATGCCATAACCCATCGCTTGAAGTGGAAGATTTATCTTTAGAAAATGCTATTGGAAAA
CCTTTTGACAAGACAATCCGCCATTATCTGGATCCTTTGTGGCACCAGCTTGGAGCCAAG
ACTAAATCCTTAGTTCAGGATTTGAAGATATTACGAACTTTGCTGCAGTATCTCTCTCAG
TATGATTGTGTCACATTTCTTAATCTTCTGGAATCTCTGAGAGCAACGGAAAAAGCTTTT
GGTCAGAATTCAGGTTGGCTGTTTCTTGACTCCAGCACCTCGATGTTTATAAATGCTCGA
GCAAGGGTTTATCATCTTCCAGATGCCAAAATGAGTAAAAAAGAAAAAATATCTGAAAAA
ATGGAAATTAAAGAAGGGGAAGAAACAAAAAAGGAACTGGTCCTAGAAAGCAACCCAAAG
TGGGAGGCACTGACTGAAGTATTAAAAGAAATTGAGGCAGAAAATAAGGAGAGTGAAGCT
CTTGGTGGTCCAGGTCAAGTACTGATTTGTGCAAGTGATGACCGAACATGTTCCCAGCTG
AGAGACTATATCACTCTTGGAGCGGAGGCCTTCTTATTGAGGCTCTACAGGAAAACCTTT
GAGAAGGATAGCAAAGCTGAAGAAGTCTGGATGAAATTTAGGAAGGAAGACAGTTCAAAG
AGAATTAGGAAATCTCACAAAAGACCTAAAGACCCCCAAAACAAAGAACGGGCTTCTACC
AAAGAAAGAACCCTCAAAAAGAAAAAACGGAAGTTGACCTTAACTCAAATGGTAGGAAAA
CCTGAAGAACTGGAAGAGGAAGGAGATGTCGAGGAAGGATATCGTCGAGAAATAAGCAGT
AGCCCAGAAAGCTGCCCGGAAGAAATTAAGCATGAAGAATTTGATGTAAATTTGTCATCG
GATGCTGCTTTCGGAATCCTGAAAGAACCCCTCACTATCATCCATCCGCTTCTGGGTTGC
AGCGACCCCTATGCTCTGACAAGGGTACTACATGAAGTGGAGCCAAGATACGTGGTTCTT
TATGACGCAGAGCTAACCTTTGTTCGGCAGCTTGAAATTTACAGGGCGAGTAGGCCTGGG
AAACCTCTGAGGGTTTACTTTCTTATATACGGAGGTTCAACTGAGGAACAACGCTATCTC
ACTGCTTTGCGGAAAGAAAAGGAAGCTTTTGAAAAACTCATAAGGGAAAAAGCAAGCATG
GTTGTCCCTGAAGAAAGAGAAGGCAGAGATGAAACAAACTTAGACCTAGTAAGAGGCACA
GCATCTGCAGATGTTTCCACTGACACTCGGAAAGCCGGTGGCCAGGAACAGAATGGTACA
CAGCAAAGCATAGTTGTGGATATGCGTGAATTTCGAAGTGAGCTTCCATCTCTGATCCAT
CGTCGGGGCATTGACATTGAACCCGTGACTTTAGAGGTTGGAGATTACATCCTCACTCCA
GAAATGTGCGTGGAGCGCAAGAGTATCAGTGATTTAATCGGCTCTTTAAATAACGGCCGC
CTCTACAGCCAGTGCATCTCCATGTCCCGCTACTACAAGCGTCCCGTGCTTCTGATTGAG
TTTGACCCTAGCAAGCCTTTCTCTCTCACTTCCCGAGGTGCCTTGTTTCAGGAGATCTCC
AGCAATGACATTAGTTCCAAACTCACTCTTCTTACACTTCACTTCCCCAGACTACGGATT
CTCTGGTGCCCCTCTCCTCATGCAACGGCGGAGTTGTTTGAGGAGCTGAAACAAAGCAAG
CCACAGCCTGATGCGGCGACAGCACTGGCCATTACAGCAGATTCTGAAACCCTTCCCGAG
TCAGAGAAGTATAATCCTGGTCCCCAAGACTTCTTGTTAAAAATGCCAGGGGTGAATGCC
AAAAACTGCCGCTCCTTGATGCACCACGTTAAGAACATCGCAGAATTAGCAGCCCTGTCA
CAAGACGAGCTCACGAGTATTCTGGGGAATGCTGCAAATGCCAAACAGCTTTATGATTTC
ATTCACACCTCTTTTGCAGAAGTCGTATCAAAAGGAAAAGGGAAAAAGTGA
Protein Properties
Number of Residues 916
Molecular Weight 104484.9
Theoretical pI 6.92
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • None
Protein Sequence
>DNA repair endonuclease XPF
MESGQPARRIAMAPLLEYERQLVLELLDTDGLVVCARGLGADRLLYHFLQLHCHPACLVL
VLNTQPAEEEYFINQLKIEGVEHLPRRVTNEITSNSRYEVYTQGGVIFATSRILVVDFLT
DRIPSDLITGILVYRAHRIIESCQEAFILRLFRQKNKRGFIKAFTDNAVAFDTGFCHVER
VMRNLFVRKLYLWPRFHVAVNSFLEQHKPEVVEIHVSMTPTMLAIQTAILDILNACLKEL
KCHNPSLEVEDLSLENAIGKPFDKTIRHYLDPLWHQLGAKTKSLVQDLKILRTLLQYLSQ
YDCVTFLNLLESLRATEKAFGQNSGWLFLDSSTSMFINARARVYHLPDAKMSKKEKISEK
MEIKEGEETKKELVLESNPKWEALTEVLKEIEAENKESEALGGPGQVLICASDDRTCSQL
RDYITLGAEAFLLRLYRKTFEKDSKAEEVWMKFRKEDSSKRIRKSHKRPKDPQNKERAST
KERTLKKKKRKLTLTQMVGKPEELEEEGDVEEGYRREISSSPESCPEEIKHEEFDVNLSS
DAAFGILKEPLTIIHPLLGCSDPYALTRVLHEVEPRYVVLYDAELTFVRQLEIYRASRPG
KPLRVYFLIYGGSTEEQRYLTALRKEKEAFEKLIREKASMVVPEEREGRDETNLDLVRGT
ASADVSTDTRKAGGQEQNGTQQSIVVDMREFRSELPSLIHRRGIDIEPVTLEVGDYILTP
EMCVERKSISDLIGSLNNGRLYSQCISMSRYYKRPVLLIEFDPSKPFSLTSRGALFQEIS
SNDISSKLTLLTLHFPRLRILWCPSPHATAELFEELKQSKPQPDAATALAITADSETLPE
SEKYNPGPQDFLLKMPGVNAKNCRSLMHHVKNIAELAALSQDELTSILGNAANAKQLYDF
IHTSFAEVVSKGKGKK
GenBank ID Protein 19550957
UniProtKB/Swiss-Prot ID Q92889
UniProtKB/Swiss-Prot Entry Name XPF_HUMAN
PDB IDs Not Available
GenBank Gene ID AF491814
GeneCard ID ERCC4
GenAtlas ID ERCC4
HGNC ID HGNC:3436
References
General References
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  4. Svendsen JM, Smogorzewska A, Sowa ME, O'Connell BC, Gygi SP, Elledge SJ, Harper JW: Mammalian BTBD12/SLX4 assembles a Holliday junction resolvase and is required for DNA repair. Cell. 2009 Jul 10;138(1):63-77. doi: 10.1016/j.cell.2009.06.030. [PubMed:19596235 ]
  5. Shen MR, Jones IM, Mohrenweiser H: Nonconservative amino acid substitution variants exist at polymorphic frequency in DNA repair genes in healthy humans. Cancer Res. 1998 Feb 15;58(4):604-8. [PubMed:9485007 ]
  6. Ciccia A, Ling C, Coulthard R, Yan Z, Xue Y, Meetei AR, Laghmani el H, Joenje H, McDonald N, de Winter JP, Wang W, West SC: Identification of FAAP24, a Fanconi anemia core complex protein that interacts with FANCM. Mol Cell. 2007 Feb 9;25(3):331-43. [PubMed:17289582 ]
  7. Cleaver JE, Thompson LH, Richardson AS, States JC: A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. Hum Mutat. 1999;14(1):9-22. [PubMed:10447254 ]
  8. Munoz IM, Hain K, Declais AC, Gardiner M, Toh GW, Sanchez-Pulido L, Heuckmann JM, Toth R, Macartney T, Eppink B, Kanaar R, Ponting CP, Lilley DM, Rouse J: Coordination of structure-specific nucleases by human SLX4/BTBD12 is required for DNA repair. Mol Cell. 2009 Jul 10;35(1):116-27. doi: 10.1016/j.molcel.2009.06.020. [PubMed:19595721 ]
  9. Fekairi S, Scaglione S, Chahwan C, Taylor ER, Tissier A, Coulon S, Dong MQ, Ruse C, Yates JR 3rd, Russell P, Fuchs RP, McGowan CH, Gaillard PH: Human SLX4 is a Holliday junction resolvase subunit that binds multiple DNA repair/recombination endonucleases. Cell. 2009 Jul 10;138(1):78-89. doi: 10.1016/j.cell.2009.06.029. [PubMed:19596236 ]
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  14. Sijbers AM, van Voorst Vader PC, Snoek JW, Raams A, Jaspers NG, Kleijer WJ: Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease. J Invest Dermatol. 1998 May;110(5):832-6. [PubMed:9579555 ]
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