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词条 XPA
释义

  1. Function

  2. Interactions

  3. References

  4. Further reading

  5. External links

{{Infobox_gene}}DNA repair protein complementing XP-A cells is a protein that in humans is encoded by the XPA gene.[1]

Function

Nucleotide excision repair (NER) is a major pathway for repairing a variety of bulky DNA damages including those introduced by UV irradiation. The XPA protein appears to play a key role in NER at sites of damage as a scaffold for other repair proteins in order to ensure that the damages are appropriately excised.[2] Among the repair proteins with which XPA interacts is a protein complex (including the ERCC1 protein) that is capable of incising DNA at sites of damage.[3]

Xpa mutant individuals often show the severe clinical symptoms of xeroderma pigmentosum, a condition involving extreme sensitivity to sunlight and a high incidence of skin cancer.

Interactions

XPA has been shown to interact with ERCC1,[3][4] Replication protein A1[5] and XAB2.[6]

References

1. ^{{cite web | title = Entrez Gene: XPA xeroderma pigmentosum, complementation group A| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7507| accessdate = }}
2. ^{{cite journal |vauthors=Sugitani N, Sivley RM, Perry KE, Capra JA, Chazin WJ |title=XPA: A key scaffold for human nucleotide excision repair |journal=DNA Repair (Amst.) |volume=44 |issue= |pages=123–35 |year=2016 |pmid=27247238 |doi=10.1016/j.dnarep.2016.05.018 |pmc=4958585}}
3. ^1 {{cite journal | vauthors = Li L, Elledge SJ, Peterson CA, Bales ES, Legerski RJ | title = Specific association between the human DNA repair proteins XPA and ERCC1 | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 91 | issue = 11 | pages = 5012–6 | date = May 1994 | pmid = 8197174 | pmc = 43920 | doi = 10.1073/pnas.91.11.5012 }}
4. ^{{cite journal | vauthors = Nagai A, Saijo M, Kuraoka I, Matsuda T, Kodo N, Nakatsu Y, Mimaki T, Mino M, Biggerstaff M, Wood RD | title = Enhancement of damage-specific DNA binding of XPA by interaction with the ERCC1 DNA repair protein | journal = Biochemical and Biophysical Research Communications | volume = 211 | issue = 3 | pages = 960–6 | date = Jun 1995 | pmid = 7598728 | doi = 10.1006/bbrc.1995.1905 }}
5. ^{{cite journal | vauthors = Li L, Lu X, Peterson CA, Legerski RJ | title = An interaction between the DNA repair factor XPA and replication protein A appears essential for nucleotide excision repair | journal = Molecular and Cellular Biology | volume = 15 | issue = 10 | pages = 5396–402 | date = Oct 1995 | pmid = 7565690 | pmc = 230789 | doi=10.1128/mcb.15.10.5396}}
6. ^{{cite journal | vauthors = Nakatsu Y, Asahina H, Citterio E, Rademakers S, Vermeulen W, Kamiuchi S, Yeo JP, Khaw MC, Saijo M, Kodo N, Matsuda T, Hoeijmakers JH, Tanaka K | title = XAB2, a novel tetratricopeptide repeat protein involved in transcription-coupled DNA repair and transcription | journal = The Journal of Biological Chemistry | volume = 275 | issue = 45 | pages = 34931–7 | date = Nov 2000 | pmid = 10944529 | doi = 10.1074/jbc.M004936200 }}

Further reading

{{refbegin | 2}}
  • {{cite journal | vauthors = Cleaver JE, Thompson LH, Richardson AS, States JC | title = A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy | journal = Human Mutation | volume = 14 | issue = 1 | pages = 9–22 | year = 1999 | pmid = 10447254 | doi = 10.1002/(SICI)1098-1004(1999)14:1<9::AID-HUMU2>3.0.CO;2-6 }}
  • {{cite journal | vauthors = Morikawa K, Shirakawa M | title = Three-dimensional structural views of damaged-DNA recognition: T4 endonuclease V, E. coli Vsr protein, and human nucleotide excision repair factor XPA | journal = Mutation Research | volume = 460 | issue = 3–4 | pages = 257–75 | date = Aug 2000 | pmid = 10946233 | doi = 10.1016/s0921-8777(00)00031-8 }}
  • {{cite journal | vauthors = Satokata I, Tanaka K, Okada Y | title = Molecular basis of group A xeroderma pigmentosum: a missense mutation and two deletions located in a zinc finger consensus sequence of the XPAC gene | journal = Human Genetics | volume = 88 | issue = 6 | pages = 603–7 | date = Mar 1992 | pmid = 1339397 | doi = 10.1007/BF02265282 }}
  • {{cite journal | vauthors = Satokata I, Tanaka K, Yuba S, Okada Y | title = Identification of splicing mutations of the last nucleotides of exons, a nonsense mutation, and a missense mutation of the XPAC gene as causes of group A xeroderma pigmentosum | journal = Mutation Research | volume = 273 | issue = 2 | pages = 203–12 | date = Mar 1992 | pmid = 1372103 | doi = 10.1016/0921-8777(92)90081-d }}
  • {{cite journal | vauthors = Miyamoto I, Miura N, Niwa H, Miyazaki J, Tanaka K | title = Mutational analysis of the structure and function of the xeroderma pigmentosum group A complementing protein. Identification of essential domains for nuclear localization and DNA excision repair | journal = The Journal of Biological Chemistry | volume = 267 | issue = 17 | pages = 12182–7 | date = Jun 1992 | pmid = 1601884 | doi = }}
  • {{cite journal | vauthors = Satokata I, Tanaka K, Miura N, Miyamoto I, Satoh Y, Kondo S, Okada Y | title = Characterization of a splicing mutation in group A xeroderma pigmentosum | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 87 | issue = 24 | pages = 9908–12 | date = Dec 1990 | pmid = 1702221 | pmc = 55283 | doi = 10.1073/pnas.87.24.9908 }}
  • {{cite journal | vauthors = Miura N, Miyamoto I, Asahina H, Satokata I, Tanaka K, Okada Y | title = Identification and characterization of xpac protein, the gene product of the human XPAC (xeroderma pigmentosum group A complementing) gene | journal = The Journal of Biological Chemistry | volume = 266 | issue = 29 | pages = 19786–9 | date = Oct 1991 | pmid = 1918083 | doi = }}
  • {{cite journal | vauthors = Tanaka K, Miura N, Satokata I, Miyamoto I, Yoshida MC, Satoh Y, Kondo S, Yasui A, Okayama H, Okada Y | title = Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domain | journal = Nature | volume = 348 | issue = 6296 | pages = 73–6 | date = Nov 1990 | pmid = 2234061 | doi = 10.1038/348073a0 }}
  • {{cite journal | vauthors = Li L, Lu X, Peterson CA, Legerski RJ | title = An interaction between the DNA repair factor XPA and replication protein A appears essential for nucleotide excision repair | journal = Molecular and Cellular Biology | volume = 15 | issue = 10 | pages = 5396–402 | date = Oct 1995 | pmid = 7565690 | pmc = 230789 | doi = 10.1128/mcb.15.10.5396}}
  • {{cite journal | vauthors = Nagai A, Saijo M, Kuraoka I, Matsuda T, Kodo N, Nakatsu Y, Mimaki T, Mino M, Biggerstaff M, Wood RD | title = Enhancement of damage-specific DNA binding of XPA by interaction with the ERCC1 DNA repair protein | journal = Biochemical and Biophysical Research Communications | volume = 211 | issue = 3 | pages = 960–6 | date = Jun 1995 | pmid = 7598728 | doi = 10.1006/bbrc.1995.1905 }}
  • {{cite journal | vauthors = Farndon PA, Morris DJ, Hardy C, McConville CM, Weissenbach J, Kilpatrick MW, Reis A | title = Analysis of 133 meioses places the genes for nevoid basal cell carcinoma (Gorlin) syndrome and Fanconi anemia group C in a 2.6-cM interval and contributes to the fine map of 9q22.3 | journal = Genomics | volume = 23 | issue = 2 | pages = 486–9 | date = Sep 1994 | pmid = 7835901 | doi = 10.1006/geno.1994.1528 }}
  • {{cite journal | vauthors = Park CH, Mu D, Reardon JT, Sancar A | title = The general transcription-repair factor TFIIH is recruited to the excision repair complex by the XPA protein independent of the TFIIE transcription factor | journal = The Journal of Biological Chemistry | volume = 270 | issue = 9 | pages = 4896–902 | date = Mar 1995 | pmid = 7876263 | doi = 10.1074/jbc.270.9.4896 }}
  • {{cite journal | vauthors = Li L, Elledge SJ, Peterson CA, Bales ES, Legerski RJ | title = Specific association between the human DNA repair proteins XPA and ERCC1 | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 91 | issue = 11 | pages = 5012–6 | date = May 1994 | pmid = 8197174 | pmc = 43920 | doi = 10.1073/pnas.91.11.5012 }}
  • {{cite journal | vauthors = Park CH, Sancar A | title = Formation of a ternary complex by human XPA, ERCC1, and ERCC4(XPF) excision repair proteins | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 91 | issue = 11 | pages = 5017–21 | date = May 1994 | pmid = 8197175 | pmc = 43921 | doi = 10.1073/pnas.91.11.5017 }}
  • {{cite journal | vauthors = Satokata I, Iwai K, Matsuda T, Okada Y, Tanaka K | title = Genomic characterization of the human DNA excision repair-controlling gene XPAC | journal = Gene | volume = 136 | issue = 1–2 | pages = 345–8 | date = Dec 1993 | pmid = 8294029 | doi = 10.1016/0378-1119(93)90493-M }}
  • {{cite journal | vauthors = Tanaka K | title = The Japan Society of Human Genetics Award Lecture. Molecular analysis of xeroderma pigmentosum group A gene | journal = The Japanese Journal of Human Genetics | volume = 38 | issue = 1 | pages = 1–14 | date = Mar 1993 | pmid = 8504220 | doi = 10.1007/BF01891230 }}
  • {{cite journal | vauthors = Topping RS, Myrand SP, Williams BL, Albert JC, States JC | title = Characterization of the human XPA promoter | journal = Gene | volume = 166 | issue = 2 | pages = 341–2 | date = Dec 1995 | pmid = 8543191 | doi = 10.1016/0378-1119(95)00649-4 }}
  • {{cite journal | vauthors = Lench NJ, Telford EA, Andersen SE, Moynihan TP, Robinson PA, Markham AF | title = An EST and STS-based YAC contig map of human chromosome 9q22.3 | journal = Genomics | volume = 38 | issue = 2 | pages = 199–205 | date = Dec 1996 | pmid = 8954802 | doi = 10.1006/geno.1996.0616 }}
  • {{cite journal | vauthors = Selby CP, Sancar A | title = Human transcription-repair coupling factor CSB/ERCC6 is a DNA-stimulated ATPase but is not a helicase and does not disrupt the ternary transcription complex of stalled RNA polymerase II | journal = The Journal of Biological Chemistry | volume = 272 | issue = 3 | pages = 1885–90 | date = Jan 1997 | pmid = 8999876 | doi = 10.1074/jbc.272.3.1885 }}
  • {{cite journal | vauthors = Hayashi T, Takao M, Tanaka K, Yasui A | title = ERCC1 mutations in UV-sensitive Chinese hamster ovary (CHO) cell lines | journal = Mutation Research | volume = 407 | issue = 3 | pages = 269–76 | date = Jun 1998 | pmid = 9653453 | doi = 10.1016/s0921-8777(98)00013-5 }}
{{refend}}

External links

  • [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=xp GeneReviews/NIH/NCBI/UW entry on Xeroderma Pigmentosum]
{{PDB Gallery|geneid=7507}}{{DNA repair}}
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