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.[5] 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.[6]
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.
^ abcGRCm38: Ensembl release 89: ENSMUSG00000028329 - Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Entrez Gene: XPA xeroderma pigmentosum, complementation group A".
^Sugitani N, Sivley RM, Perry KE, Capra JA, Chazin WJ (2016). "XPA: A key scaffold for human nucleotide excision repair". DNA Repair (Amst.). 44: 123–35. doi:10.1016/j.dnarep.2016.05.018. PMC4958585. PMID 27247238.
^ abLi L, Elledge SJ, Peterson CA, Bales ES, Legerski RJ (May 1994). "Specific association between the human DNA repair proteins XPA and ERCC1". Proceedings of the National Academy of Sciences of the United States of America. 91 (11): 5012–6. Bibcode:1994PNAS...91.5012L. doi:10.1073/pnas.91.11.5012. PMC43920. PMID 8197174.
^Nagai A, Saijo M, Kuraoka I, Matsuda T, Kodo N, Nakatsu Y, Mimaki T, Mino M, Biggerstaff M, Wood RD (Jun 1995). "Enhancement of damage-specific DNA binding of XPA by interaction with the ERCC1 DNA repair protein". Biochemical and Biophysical Research Communications. 211 (3): 960–6. doi:10.1006/bbrc.1995.1905. hdl:1765/60251. PMID 7598728.
^Li L, Lu X, Peterson CA, Legerski RJ (Oct 1995). "An interaction between the DNA repair factor XPA and replication protein A appears essential for nucleotide excision repair". Molecular and Cellular Biology. 15 (10): 5396–402. doi:10.1128/mcb.15.10.5396. PMC230789. PMID 7565690.
^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 (Nov 2000). "XAB2, a novel tetratricopeptide repeat protein involved in transcription-coupled DNA repair and transcription". The Journal of Biological Chemistry. 275 (45): 34931–7. doi:10.1074/jbc.M004936200. PMID 10944529.
Further readingedit
Cleaver JE, Thompson LH, Richardson AS, States JC (1999). "A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy". Human Mutation. 14 (1): 9–22. doi:10.1002/(SICI)1098-1004(1999)14:1<9::AID-HUMU2>3.0.CO;2-6. PMID 10447254. S2CID 24148589.
Morikawa K, Shirakawa M (Aug 2000). "Three-dimensional structural views of damaged-DNA recognition: T4 endonuclease V, E. coli Vsr protein, and human nucleotide excision repair factor XPA". Mutation Research. 460 (3–4): 257–75. doi:10.1016/s0921-8777(00)00031-8. PMID 10946233.
Satokata I, Tanaka K, Okada Y (Mar 1992). "Molecular basis of group A xeroderma pigmentosum: a missense mutation and two deletions located in a zinc finger consensus sequence of the XPAC gene". Human Genetics. 88 (6): 603–7. doi:10.1007/BF02265282. PMID 1339397. S2CID 36814493.
Satokata I, Tanaka K, Yuba S, Okada Y (Mar 1992). "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". Mutation Research. 273 (2): 203–12. doi:10.1016/0921-8777(92)90081-d. PMID 1372103.
Miyamoto I, Miura N, Niwa H, Miyazaki J, Tanaka K (Jun 1992). "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". The Journal of Biological Chemistry. 267 (17): 12182–7. doi:10.1016/S0021-9258(19)49821-9. PMID 1601884.
Satokata I, Tanaka K, Miura N, Miyamoto I, Satoh Y, Kondo S, Okada Y (Dec 1990). "Characterization of a splicing mutation in group A xeroderma pigmentosum". Proceedings of the National Academy of Sciences of the United States of America. 87 (24): 9908–12. Bibcode:1990PNAS...87.9908S. doi:10.1073/pnas.87.24.9908. PMC55283. PMID 1702221.
Miura N, Miyamoto I, Asahina H, Satokata I, Tanaka K, Okada Y (Oct 1991). "Identification and characterization of xpac protein, the gene product of the human XPAC (xeroderma pigmentosum group A complementing) gene". The Journal of Biological Chemistry. 266 (29): 19786–9. doi:10.1016/S0021-9258(18)55060-2. PMID 1918083.
Tanaka K, Miura N, Satokata I, Miyamoto I, Yoshida MC, Satoh Y, Kondo S, Yasui A, Okayama H, Okada Y (Nov 1990). "Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domain". Nature. 348 (6296): 73–6. Bibcode:1990Natur.348...73T. doi:10.1038/348073a0. PMID 2234061. S2CID 4346999.
Li L, Lu X, Peterson CA, Legerski RJ (Oct 1995). "An interaction between the DNA repair factor XPA and replication protein A appears essential for nucleotide excision repair". Molecular and Cellular Biology. 15 (10): 5396–402. doi:10.1128/mcb.15.10.5396. PMC230789. PMID 7565690.
Nagai A, Saijo M, Kuraoka I, Matsuda T, Kodo N, Nakatsu Y, Mimaki T, Mino M, Biggerstaff M, Wood RD (Jun 1995). "Enhancement of damage-specific DNA binding of XPA by interaction with the ERCC1 DNA repair protein". Biochemical and Biophysical Research Communications. 211 (3): 960–6. doi:10.1006/bbrc.1995.1905. hdl:1765/60251. PMID 7598728.
Farndon PA, Morris DJ, Hardy C, McConville CM, Weissenbach J, Kilpatrick MW, Reis A (Sep 1994). "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". Genomics. 23 (2): 486–9. doi:10.1006/geno.1994.1528. PMID 7835901.
Park CH, Mu D, Reardon JT, Sancar A (Mar 1995). "The general transcription-repair factor TFIIH is recruited to the excision repair complex by the XPA protein independent of the TFIIE transcription factor". The Journal of Biological Chemistry. 270 (9): 4896–902. doi:10.1074/jbc.270.9.4896. PMID 7876263.
Li L, Elledge SJ, Peterson CA, Bales ES, Legerski RJ (May 1994). "Specific association between the human DNA repair proteins XPA and ERCC1". Proceedings of the National Academy of Sciences of the United States of America. 91 (11): 5012–6. Bibcode:1994PNAS...91.5012L. doi:10.1073/pnas.91.11.5012. PMC43920. PMID 8197174.
Park CH, Sancar A (May 1994). "Formation of a ternary complex by human XPA, ERCC1, and ERCC4(XPF) excision repair proteins". Proceedings of the National Academy of Sciences of the United States of America. 91 (11): 5017–21. Bibcode:1994PNAS...91.5017P. doi:10.1073/pnas.91.11.5017. PMC43921. PMID 8197175.
Satokata I, Iwai K, Matsuda T, Okada Y, Tanaka K (Dec 1993). "Genomic characterization of the human DNA excision repair-controlling gene XPAC". Gene. 136 (1–2): 345–8. doi:10.1016/0378-1119(93)90493-M. PMID 8294029.
Tanaka K (Mar 1993). "The Japan Society of Human Genetics Award Lecture. Molecular analysis of xeroderma pigmentosum group A gene". The Japanese Journal of Human Genetics. 38 (1): 1–14. doi:10.1007/BF01891230. PMID 8504220.
Topping RS, Myrand SP, Williams BL, Albert JC, States JC (Dec 1995). "Characterization of the human XPA promoter". Gene. 166 (2): 341–2. doi:10.1016/0378-1119(95)00649-4. PMID 8543191.
Lench NJ, Telford EA, Andersen SE, Moynihan TP, Robinson PA, Markham AF (Dec 1996). "An EST and STS-based YAC contig map of human chromosome 9q22.3". Genomics. 38 (2): 199–205. doi:10.1006/geno.1996.0616. PMID 8954802.
Selby CP, Sancar A (Jan 1997). "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". The Journal of Biological Chemistry. 272 (3): 1885–90. doi:10.1074/jbc.272.3.1885. PMID 8999876.
Hayashi T, Takao M, Tanaka K, Yasui A (Jun 1998). "ERCC1 mutations in UV-sensitive Chinese hamster ovary (CHO) cell lines". Mutation Research. 407 (3): 269–76. doi:10.1016/s0921-8777(98)00013-5. PMID 9653453.
External linksedit
GeneReviews/NIH/NCBI/UW entry on Xeroderma Pigmentosum
December 15, 2023
code, pirriya, language, repair, protein, complementing, cells, protein, that, humans, encoded, gene, available, structurespdbortholog, search, pdbe, rcsblist, codes1d4u, 2jnwidentifiersaliases, xeroderma, pigmentosum, complementation, group, damage, recogniti. For the ISO 639 3 code see Pirriya language DNA repair protein complementing XP A cells is a protein that in humans is encoded by the XPA gene 4 XPAAvailable structuresPDBOrtholog search PDBe RCSBList of PDB id codes1D4U 1XPA 2JNWIdentifiersAliasesXPA XP1 XPAC xeroderma pigmentosum complementation group A DNA damage recognition and repair factorExternal IDsOMIM 611153 MGI 99135 HomoloGene 37298 GeneCards XPAGene location Mouse Chr Chromosome 4 mouse 1 Band4 B1 4 24 49 cMStart46 155 347 bp 1 End46 196 311 bp 1 RNA expression patternBgeeHumanMouse ortholog n aTop expressed inganglionic eminenceproximal tubulemedial ganglionic eminenceneural tubethymusankle jointsupraoptic nucleuslenslipcerebellar cortexBioGPSMore reference expression dataGene ontologyMolecular functionmetal ion binding protein domain specific binding protein homodimerization activity DNA binding protein binding damaged DNA bindingCellular componentintercellular bridge DNA replication factor A complex nucleotide excision repair factor 1 complex nucleus nucleoplasm cytoplasmBiological processnucleotide excision repair DNA incision intrinsic apoptotic signaling pathway in response to DNA damage transcription coupled nucleotide excision repair response to oxidative stress cellular response to DNA damage stimulus response to auditory stimulus multicellular organism growth global genome nucleotide excision repair response to toxic substance response to UV nucleotide excision repair preincision complex assembly nucleotide excision repair nucleotide excision repair DNA incision 5 to lesion nucleotide excision repair involved in interstrand cross link repair UV damage excision repair base excision repair nucleotide excision repair preincision complex stabilization nucleotide excision repair DNA damage recognition DNA repair UV protection protein localization to nucleus regulation of autophagy nucleotide excision repair DNA duplex unwinding nucleotide excision repair DNA incision 3 to lesionSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez750722590EnsemblENSG00000136936ENSMUSG00000028329UniProtP23025Q64267RefSeq mRNA NM 000380NM 011728RefSeq protein NP 000371NP 001341904NP 035858Location UCSC n aChr 4 46 16 46 2 MbPubMed search 2 3 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 Interactions 3 References 4 Further reading 5 External linksFunction editNucleotide 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 5 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 6 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 editXPA has been shown to interact with ERCC1 6 7 Replication protein A1 8 and XAB2 9 References edit a b c GRCm38 Ensembl release 89 ENSMUSG00000028329 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Entrez Gene XPA xeroderma pigmentosum complementation group A Sugitani N Sivley RM Perry KE Capra JA Chazin WJ 2016 XPA A key scaffold for human nucleotide excision repair DNA Repair Amst 44 123 35 doi 10 1016 j dnarep 2016 05 018 PMC 4958585 PMID 27247238 a b Li L Elledge SJ Peterson CA Bales ES Legerski RJ May 1994 Specific association between the human DNA repair proteins XPA and ERCC1 Proceedings of the National Academy of Sciences of the United States of America 91 11 5012 6 Bibcode 1994PNAS 91 5012L doi 10 1073 pnas 91 11 5012 PMC 43920 PMID 8197174 Nagai A Saijo M Kuraoka I Matsuda T Kodo N Nakatsu Y Mimaki T Mino M Biggerstaff M Wood RD Jun 1995 Enhancement of damage specific DNA binding of XPA by interaction with the ERCC1 DNA repair protein Biochemical and Biophysical Research Communications 211 3 960 6 doi 10 1006 bbrc 1995 1905 hdl 1765 60251 PMID 7598728 Li L Lu X Peterson CA Legerski RJ Oct 1995 An interaction between the DNA repair factor XPA and replication protein A appears essential for nucleotide excision repair Molecular and Cellular Biology 15 10 5396 402 doi 10 1128 mcb 15 10 5396 PMC 230789 PMID 7565690 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 Nov 2000 XAB2 a novel tetratricopeptide repeat protein involved in transcription coupled DNA repair and transcription The Journal of Biological Chemistry 275 45 34931 7 doi 10 1074 jbc M004936200 PMID 10944529 Further reading editCleaver JE Thompson LH Richardson AS States JC 1999 A summary of mutations in the UV sensitive disorders xeroderma pigmentosum Cockayne syndrome and trichothiodystrophy Human Mutation 14 1 9 22 doi 10 1002 SICI 1098 1004 1999 14 1 lt 9 AID HUMU2 gt 3 0 CO 2 6 PMID 10447254 S2CID 24148589 Morikawa K Shirakawa M Aug 2000 Three dimensional structural views of damaged DNA recognition T4 endonuclease V E coli Vsr protein and human nucleotide excision repair factor XPA Mutation Research 460 3 4 257 75 doi 10 1016 s0921 8777 00 00031 8 PMID 10946233 Satokata I Tanaka K Okada Y Mar 1992 Molecular basis of group A xeroderma pigmentosum a missense mutation and two deletions located in a zinc finger consensus sequence of the XPAC gene Human Genetics 88 6 603 7 doi 10 1007 BF02265282 PMID 1339397 S2CID 36814493 Satokata I Tanaka K Yuba S Okada Y Mar 1992 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 Mutation Research 273 2 203 12 doi 10 1016 0921 8777 92 90081 d PMID 1372103 Miyamoto I Miura N Niwa H Miyazaki J Tanaka K Jun 1992 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 The Journal of Biological Chemistry 267 17 12182 7 doi 10 1016 S0021 9258 19 49821 9 PMID 1601884 Satokata I Tanaka K Miura N Miyamoto I Satoh Y Kondo S Okada Y Dec 1990 Characterization of a splicing mutation in group A xeroderma pigmentosum Proceedings of the National Academy of Sciences of the United States of America 87 24 9908 12 Bibcode 1990PNAS 87 9908S doi 10 1073 pnas 87 24 9908 PMC 55283 PMID 1702221 Miura N Miyamoto I Asahina H Satokata I Tanaka K Okada Y Oct 1991 Identification and characterization of xpac protein the gene product of the human XPAC xeroderma pigmentosum group A complementing gene The Journal of Biological Chemistry 266 29 19786 9 doi 10 1016 S0021 9258 18 55060 2 PMID 1918083 Tanaka K Miura N Satokata I Miyamoto I Yoshida MC Satoh Y Kondo S Yasui A Okayama H Okada Y Nov 1990 Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc finger domain Nature 348 6296 73 6 Bibcode 1990Natur 348 73T doi 10 1038 348073a0 PMID 2234061 S2CID 4346999 Li L Lu X Peterson CA Legerski RJ Oct 1995 An interaction between the DNA repair factor XPA and replication protein A appears essential for nucleotide excision repair Molecular and Cellular Biology 15 10 5396 402 doi 10 1128 mcb 15 10 5396 PMC 230789 PMID 7565690 Nagai A Saijo M Kuraoka I Matsuda T Kodo N Nakatsu Y Mimaki T Mino M Biggerstaff M Wood RD Jun 1995 Enhancement of damage specific DNA binding of XPA by interaction with the ERCC1 DNA repair protein Biochemical and Biophysical Research Communications 211 3 960 6 doi 10 1006 bbrc 1995 1905 hdl 1765 60251 PMID 7598728 Farndon PA Morris DJ Hardy C McConville CM Weissenbach J Kilpatrick MW Reis A Sep 1994 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 Genomics 23 2 486 9 doi 10 1006 geno 1994 1528 PMID 7835901 Park CH Mu D Reardon JT Sancar A Mar 1995 The general transcription repair factor TFIIH is recruited to the excision repair complex by the XPA protein independent of the TFIIE transcription factor The Journal of Biological Chemistry 270 9 4896 902 doi 10 1074 jbc 270 9 4896 PMID 7876263 Li L Elledge SJ Peterson CA Bales ES Legerski RJ May 1994 Specific association between the human DNA repair proteins XPA and ERCC1 Proceedings of the National Academy of Sciences of the United States of America 91 11 5012 6 Bibcode 1994PNAS 91 5012L doi 10 1073 pnas 91 11 5012 PMC 43920 PMID 8197174 Park CH Sancar A May 1994 Formation of a ternary complex by human XPA ERCC1 and ERCC4 XPF excision repair proteins Proceedings of the National Academy of Sciences of the United States of America 91 11 5017 21 Bibcode 1994PNAS 91 5017P doi 10 1073 pnas 91 11 5017 PMC 43921 PMID 8197175 Satokata I Iwai K Matsuda T Okada Y Tanaka K Dec 1993 Genomic characterization of the human DNA excision repair controlling gene XPAC Gene 136 1 2 345 8 doi 10 1016 0378 1119 93 90493 M PMID 8294029 Tanaka K Mar 1993 The Japan Society of Human Genetics Award Lecture Molecular analysis of xeroderma pigmentosum group A gene The Japanese Journal of Human Genetics 38 1 1 14 doi 10 1007 BF01891230 PMID 8504220 Topping RS Myrand SP Williams BL Albert JC States JC Dec 1995 Characterization of the human XPA promoter Gene 166 2 341 2 doi 10 1016 0378 1119 95 00649 4 PMID 8543191 Lench NJ Telford EA Andersen SE Moynihan TP Robinson PA Markham AF Dec 1996 An EST and STS based YAC contig map of human chromosome 9q22 3 Genomics 38 2 199 205 doi 10 1006 geno 1996 0616 PMID 8954802 Selby CP Sancar A Jan 1997 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 The Journal of Biological Chemistry 272 3 1885 90 doi 10 1074 jbc 272 3 1885 PMID 8999876 Hayashi T Takao M Tanaka K Yasui A Jun 1998 ERCC1 mutations in UV sensitive Chinese hamster ovary CHO cell lines Mutation Research 407 3 269 76 doi 10 1016 s0921 8777 98 00013 5 PMID 9653453 External links editGeneReviews NIH NCBI UW entry on Xeroderma Pigmentosum Retrieved from https en wikipedia org w index php title XPA amp oldid 1169943744, wikipedia, wiki, book, books, library,
