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XPF |
Protein FULL name:
DNA repair endonuclease XPF, DNA excision repair protein ERCC-4, DNA repair protein complementing XP-F cells, Xeroderma pigmentosum group F-complementing protein.,
Protein SHORT name:
XPF, XP-F, ERCC4, ERCC-4
XPF (Homo sapiens) is product of expression of ERCC4 gene.
XPF is involved in:
NHEJ in Homo sapiens
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.
COFACTOR: Magnesium.
SUBUNIT: Heterodimer composed of ERCC1 and XPF/ERCC4. Interacts with EME1. Interacts with BTBD12/SLX4; 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.
INTERACTION: Q8IY92:BTBD12; NbExp=2; IntAct=EBI-2370770, EBI-2370740;
SUBCELLULAR LOCATION: Nucleus (Probable).
DISEASE: Defects in ERCC4 are the cause of xeroderma pigmentosum complementation group F (XP-F) [MIM:278760]; also known as xeroderma pigmentosum VI (XP6). XP-F is an autosomal recessive disease characterized by hypersensitivity of the skin to sunlight followed by high incidence of skin cancer and frequent neurologic abnormalities.
DISEASE: Defects in ERCC4 are a cause of XFE progeroid syndrome [MIM:610965]. This syndrome is illustrated by one patient who presented with dwarfism, cachexia and microcephaly.
SIMILARITY: Belongs to the XPF family.
SIMILARITY: Contains 1 ERCC4 domain.
SEQUENCE CAUTION: Sequence=AAB07689.1; Type=Erroneous initiation;
WEB RESOURCE: Name=Allelic variations of the XP genes; [LINK]
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; [LINK]
WEB RESOURCE: Name=GeneReviews; [LINK]
WEB RESOURCE: Name=NIEHS-SNPs; [LINK]
| NCBI GenPept GI number(s): |
2842712 4885217 |
| Species: | Homo sapiens |
Links to other databases:
| Database | ID | Link |
| Uniprot | Q92889 |
Q92889 |
| PFAM: |
PF02732 |
PF02732 |
| InterPro: |
IPR006166 IPR006167 |
IPR006166 IPR006167 |
| CATH: | - | - |
| SCOP: | - | - |
| PDB: | - | - |
Protein sequence:
|
MAPLLEYERQLVLELLDTDGLVVCARGLGADRLLYHFLQLHCHPACLVLV LNTQPAEEEYFINQLKIEGVEHLPRRVTNEITSNSRYEVYTQGGVIFATS RILVVDFLTDRIPSDLITGILVYRAHRIIESCQEAFILRLFRQKNKRGFI KAFTDNAVAFDTGFCHVERVMRNLFVRKLYLWPRFHVAVNSFLEQHKPEV VEIHVSMTPTMLAIQTAILDILNACLKELKCHNPSLEVEDLSLENAIGKP FDKTIRHYLDPLWHQLGAKTKSLVQDLKILRTLLQYLSQYDCVTFLNLLE SLRATEKAFGQNSGWLFLDSSTSMFINARARVYHLPDAKMSKKEKISEKM EIKEGEETKKELVLESNPKWEALTEVLKEIEAENKESEALGGPGQVLICA SDDRTCSQLRDYITLGAEAFLLRLYRKTFEKDSKAEEVWMKFRKEDSSKR IRKSHKRPKDPQNKERASTKERTLKKKKRKLTLTQMVGKPEELEEEGDVE EGYRREISSSPESCPEEIKHEEFDVNLSSDAAFGILKEPLTIIHPLLGCS DPYALTRVLHEVEPRYVVLYDAELTFVRQLEIYRASRPGKPLRVYFLIYG GSTEEQRYLTALRKEKEAFEKLIREKASMVVPEEREGRDETNLDLVRGTA SADVSTDTRKAGGQEQNGTQQSIVVDMREFRSELPSLIHRRGIDIEPVTL EVGDYILTPEMCVERKSISDLIGSLNNGRLYSQCISMSRYYKRPVLLIEF DPSKPFSLTSRGALFQEISSNDISSKLTLLTLHFPRLRILWCPSPHATAE LFEELKQSKPQPDAATALAITADSETLPESEKYNPGPQDFLLKMPGVNAK NCRSLMHHVKNIAELAALSQDELTSILGNAANAKQLYDFIHTSFAEVVSK GKGKK |
XPF (Homo sapiens) belongs to following protein families:
References:
| Title | Authors | Journal |
| Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease. | Sijbers AM, de Laat WL, Ariza RR, Biggerstaff M, Wei YF, Moggs JG, Carter KC, Shell BK, Evans E, de Jong MC, Rademakers S, de Rooij J, Jaspers NG, Hoeijmakers JH, Wood RD | Cell Sept. 6, 1996 |
| ERCC4 (XPF) encodes a human nucleotide excision repair protein with eukaryotic recombination homologs. | Brookman KW, Lamerdin JE, Thelen MP, Hwang M, Reardon JT, Sancar A, Zhou ZQ, Walter CA, Parris CN, Thompson LH | Mol Cell Biol Nov. 1, 1996 |
| Nonconservative amino acid substitution variants exist at polymorphic frequency in DNA repair genes in healthy humans. | Shen MR, Jones IM, Mohrenweiser H | Cancer Res Jan. 15, 1998 |
| Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease. | Sijbers AM, van Voorst Vader PC, Snoek JW, Raams A, Jaspers NG, Kleijer WJ | J Invest Dermatol May 1, 1998 |
| 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 June 1, 1998 |
| A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. | Cleaver JE, Thompson LH, Richardson AS, States JC | Hum Mutat Jan. 1, 1999 |
| Polymorphisms in the human DNA repair gene XPF. | Fan F, Liu C, Tavare S, Arnheim N | Mutat Res Aug. 1, 1999 |
| 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 TO, 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 Feb. 1, 2004 |
| Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. | Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M | Cell Nov. 3, 2006 |
| A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis. | Niedernhofer LJ, Garinis GA, Raams A, Lalai AS, Robinson AR, Appeldoorn E, Odijk H, Oostendorp R, Ahmad A, van Leeuwen W, Theil AF, Vermeulen W, van der Horst GT, Meinecke P, Kleijer WJ, Vijg J, Jaspers NG, Hoeijmakers JH | Nature Dec. 21, 2006 |
| Identification of FAAP24, a Fanconi anemia core complex protein that interacts with FANCM. | 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 | Mol Cell Jan. 9, 2007 |
| Mammalian BTBD12/SLX4 assembles a Holliday junction resolvase and is required for DNA repair. | Svendsen JM, Smogorzewska A, Sowa ME, O'Connell BC, Gygi SP, Elledge SJ, Harper JW | Cell July 10, 2009 |
| Coordination of structure-specific nucleases by human SLX4/BTBD12 is required for DNA repair. | 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 | Mol Cell July 10, 2009 |
| Human SLX4 is a Holliday junction resolvase subunit that binds multiple DNA repair/recombination endonucleases. | 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 | Cell July 10, 2009 |
| Drosophila MUS312 and the vertebrate ortholog BTBD12 interact with DNA structure-specific endonucleases in DNA repair and recombination. | Andersen SL, Bergstralh DT, Kohl KP, LaRocque JR, Moore CB, Sekelsky J | Mol Cell July 10, 2009 |
| Lysine acetylation targets protein complexes and co-regulates major cellular functions. | Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M | Science Aug. 14, 2009 |
Last modification of this entry: Oct. 11, 2010.
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