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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
     
NER 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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