XPA

XPA
ساختارهای موجود
PDB	جستجوی هم‌ساخت‌شناسی: PDBe RCSB
فهرست شناسه‌های PDB
	1D4U, 1XPA, 2JNW
معین‌کننده‌ها
نام‌های دیگر	XPA, XP1, XPAC, xeroderma pigmentosum, complementation group A, DNA damage recognition and repair factor
شناسه‌های بیرونی	OMIM: 611153 MGI: 99135 HomoloGene: 37298 GeneCards: XPA
موقعیت ژن (موش)
کروموزوم	کروموزوم ۴ (موش)
پایان	46,196,311 bp
الگوی گسترش RNA
	More reference expression data
هستی‌شناسی ژن
عملکرد ملکولی	• metal ion binding; • protein domain specific binding; • protein homodimerization activity; • DNA binding; • GO:0001948، GO:0016582 پیوند پروتئینی; • damaged DNA binding;
ترکیبات سلولی	• intercellular bridge; • DNA replication factor A complex; • nucleotide-excision repair factor 1 complex; • هسته یاخته; • نوکلئوپلاسم; • سیتوپلاسم;
فرایند زیستی	• nucleotide-excision repair, DNA incision; • intrinsic apoptotic signaling pathway in response to DNA damage; • transcription-coupled nucleotide-excision repair; • GO:0001306 پاسخ به استرس اکسیداتیو; • cellular response to DNA damage stimulus; • response to auditory stimulus; • multicellular organism growth; • global genome nucleotide-excision repair; • response to toxic substance; • واکنش به فرابنفش; • 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; • GO:0100026 بازسازی دی‌ان‌ای; • UV protection; • protein localization to nucleus; • regulation of autophagy; • nucleotide-excision repair, DNA duplex unwinding; • nucleotide-excision repair, DNA incision, 3'-to lesion;
	منابع: آمیگو / کوئیک‌گو
هم‌ساخت‌شناسی
	7507
	22590
	ENSG00000136936
	ENSMUSG00000028329
	P23025
	Q64267
	NM_000380، NR_027302، XM_006717278، XM_017015114 XR_929839، NM_000380، NR_027302، XM_006717278، XM_017015114
	XR_390317، XR_001784116، XR_003954906 NM_011728، XR_390317، XR_001784116، XR_003954906
	XP_006717341، NP_001341904 NP_000371، XP_006717341، NP_001341904
	NP_035858
	ویکی‌داده
مشاهده/ویرایش انسان	مشاهده/ویرایش موش

پروتئین ترمیم کننده دی‌ان‌ای مکمل سلول‌های ایکس‌پی-اِی (انگلیسی: DNA repair protein complementing XP-A cells) یک پروتئین است که در انسان توسط ژن «XPA» کُدگذاری می‌شود.^[۴]

این پروتئین نقش مهمی در فرایند ترمیم گسیختگی نوکلئوتید و آسیب‌های وارده به دی‌ان‌ای در اثر اشعهٔ ماورا بنفش خورشید دارد.^[۵]

اهمیت بالینی[ویرایش]

جهش در ژن «XPA» سبب بروز بیماری نادر گزرودرما پیگمنتوزوم می‌شود که طی آن فرد در صورت مواجهه با اشعهٔ ماورا بنفش نور خورشید (حتی در سایه یا درون اتاق) دچار سرطان پوست می‌شود.

منابع[ویرایش]

↑ ^۱٫۰ ^۱٫۱ ^۱٫۲ 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.

برای مطالعهٔ بیشتر[ویرایش]

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. 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.
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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.
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این یک مقالهٔ خرد زیست‌شناسی مولکولی است. می‌توانید با گسترش آن به ویکی‌پدیا کمک کنید.

[refGRCm38Ensembl-1] ۱٫۰ ^۱٫۱ ^۱٫۲ GRCm38: Ensembl release 89: ENSMUSG00000028329 - Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[3] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-4] "Entrez Gene: XPA xeroderma pigmentosum, complementation group A".

[pmid27247238-5] 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.

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