ERCC5

ERCC5
ساختارهای موجود
PDB	جستجوی هم‌ساخت‌شناسی: PDBe RCSB
فهرست شناسه‌های PDB
	5EKF, 5EKG
معین‌کننده‌ها
نام‌های دیگر	ERCC5, COFS3, ERCM2, UVDR, XPG, XPGC, ERCC5-201, excision repair cross-complementation group 5, ERCC excision repair 5, endonuclease
شناسه‌های بیرونی	OMIM: 133530 MGI: 103582 HomoloGene: 133551 GeneCards: ERCC5
موقعیت ژن (موش)
کروموزوم	کروموزوم ۱ (موش)
پایان	44,220,420 bp
الگوی گسترش RNA
	More reference expression data
هستی‌شناسی ژن
عملکرد ملکولی	• DNA binding; • protein homodimerization activity; • hydrolase activity, acting on ester bonds; • protein N-terminus binding; • bubble DNA binding; • metal ion binding; • single-stranded DNA binding; • GO:0001948، GO:0016582 پیوند پروتئینی; • catalytic activity; • nuclease activity; • endonuclease activity; • double-stranded DNA binding; • endodeoxyribonuclease activity; • hydrolase activity; • RNA polymerase II complex binding; • GO:0032403 protein-containing complex binding;
ترکیبات سلولی	• RNA polymerase II, holoenzyme; • transcription factor TFIIH holo complex; • DNA replication factor A complex; • هسته یاخته; • نوکلئوپلاسم; • nucleotide-excision repair complex;
فرایند زیستی	• negative regulation of apoptotic process; • cellular response to DNA damage stimulus; • UV protection; • transcription-coupled nucleotide-excision repair; • nucleotide-excision repair, DNA incision; • واکنش به فرابنفش; • response to UV-C; • nucleotide-excision repair; • nucleotide-excision repair, preincision complex stabilization; • GO:0100026 بازسازی دی‌ان‌ای; • nucleotide-excision repair, preincision complex assembly; • nucleotide-excision repair, DNA incision, 5'-to lesion; • nucleotide-excision repair, DNA incision, 3'-to lesion;
	منابع: آمیگو / کوئیک‌گو
هم‌ساخت‌شناسی
	2073
	22592
	ENSG00000134899
	ENSMUSG00000026048
	P28715
	P35689
	NM_000123
	XM_006495890، XM_030253066، XM_036163693 NM_011729، XM_006495890، XM_030253066، XM_036163693
	NP_000114
	ن/م
	ویکی‌داده
مشاهده/ویرایش انسان	مشاهده/ویرایش موش

پروتئین ترمیم کننده دی‌ان‌ای مکمل سلول‌های ایکس‌پی-جی (انگلیسی: DNA repair protein complementing XP-G cells) یک پروتئین است که در انسان توسط ژن «ERCC5» کُدگذاری می‌شود.^[۴]^[۵]

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

اهمیت بالینی

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. جهش در این ژن همچنین می‌تواند منجر به خمیدگی مفاصل^[۶] و سندرم کاکین یا سندرم مغزی-چشمی-چهره‌ای-اسکلتی نوزادی کُشنده شود.^[۷]

دیده شده در موش‌ها، جهش این ژن سبب کاشکسی، پوکی استخوان، آسیب‌های کبدی-مغزی و سالخوردگی می‌شود.^[۷]

منابع

↑ ^۱٫۰ ^۱٫۱ ^۱٫۲ GRCm38: Ensembl release 89: ENSMUSG00000026048 - 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.
↑ Samec S, Jones TA, Corlet J, Scherly D, Sheer D, Wood RD, Clarkson SG (May 1994). "The human gene for xeroderma pigmentosum complementation group G (XPG) maps to 13q33 by fluorescence in situ hybridization". Genomics. 21 (1): 283–5. doi:10.1006/geno.1994.1261. PMID 8088806.
↑ "Entrez Gene: ERCC5 excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))".
↑ Drury S, Boustred C, Tekman M, Stanescu H, Kleta R, Lench N, Chitty LS, Scott RH (July 2014). "A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation". American Journal of Medical Genetics. Part A. 164A (7): 1777–83. doi:10.1002/ajmg.a.36506. PMID 24700531. S2CID 8023991.
↑ ^۷٫۰ ^۷٫۱ Barnhoorn S, Uittenboogaard LM, Jaarsma D, Vermeij WP, Tresini M, Weymaere M, Menoni H, Brandt RM, de Waard MC, Botter SM, Sarker AH, Jaspers NG, van der Horst GT, Cooper PK, Hoeijmakers JH, van der Pluijm I (October 2014). "Cell-autonomous progeroid changes in conditional mouse models for repair endonuclease XPG deficiency". PLOS Genetics. 10 (10): e1004686. doi:10.1371/journal.pgen.1004686. PMC 4191938. PMID 25299392.

برای مطالعهٔ بیشتر

Miura M (March 1999). "Detection of chromatin-bound PCNA in mammalian cells and its use to study DNA excision repair". Journal of Radiation Research. 40 (1): 1–12. Bibcode:1999JRadR..40....1M. doi:10.1269/jrr.40.1. PMID 10408173.
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.
Takahashi E, Shiomi N, Shiomi T (November 1992). "Precise localization of the excision repair gene, ERCC5, to human chromosome 13q32.3-q33.1 by direct R-banding fluorescence in situ hybridization". Japanese Journal of Cancer Research. 83 (11): 1117–9. doi:10.1111/j.1349-7006.1992.tb02731.x. PMC 5918714. PMID 1483924.
Mudgett JS, MacInnes MA (December 1990). "Isolation of the functional human excision repair gene ERCC5 by intercosmid recombination". Genomics. 8 (4): 623–33. doi:10.1016/0888-7543(90)90248-S. PMID 2276736.
Shiomi T, Harada Y, Saito T, Shiomi N, Okuno Y, Yamaizumi M (March 1994). "An ERCC5 gene with homology to yeast RAD2 is involved in group G xeroderma pigmentosum". Mutation Research. 314 (2): 167–75. doi:10.1016/0921-8777(94)90080-9. PMID 7510366.
Lehmann AR, Bootsma D, Clarkson SG, Cleaver JE, McAlpine PJ, Tanaka K, Thompson LH, Wood RD (July 1994). "Nomenclature of human DNA repair genes". Mutation Research. 315 (1): 41–2. doi:10.1016/0921-8777(94)90026-4. PMID 7517009.
Cloud KG, Shen B, Strniste GF, Park MS (July 1995). "XPG protein has a structure-specific endonuclease activity". Mutation Research. 347 (2): 55–60. doi:10.1016/0165-7992(95)90070-5. PMID 7651464.
Matsunaga T, Mu D, Park CH, Reardon JT, Sancar A (September 1995). "Human DNA repair excision nuclease. Analysis of the roles of the subunits involved in dual incisions by using anti-XPG and anti-ERCC1 antibodies". The Journal of Biological Chemistry. 270 (35): 20862–9. doi:10.1074/jbc.270.35.20862. PMID 7657672.
Nouspikel T, Clarkson SG (June 1994). "Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient" (PDF). Human Molecular Genetics. 3 (6): 963–7. doi:10.1093/hmg/3.6.963. PMID 7951246.
Habraken Y, Sung P, Prakash L, Prakash S (August 1994). "Human xeroderma pigmentosum group G gene encodes a DNA endonuclease". Nucleic Acids Research. 22 (16): 3312–6. doi:10.1093/nar/22.16.3312. PMC 523723. PMID 8078765.
O'Donovan A, Davies AA, Moggs JG, West SC, Wood RD (September 1994). "XPG endonuclease makes the 3' incision in human DNA nucleotide excision repair". Nature. 371 (6496): 432–5. Bibcode:1994Natur.371..432O. doi:10.1038/371432a0. PMID 8090225. S2CID 4328388.
O'Donovan A, Scherly D, Clarkson SG, Wood RD (June 1994). "Isolation of active recombinant XPG protein, a human DNA repair endonuclease". The Journal of Biological Chemistry. 269 (23): 15965–8. doi:10.1016/S0021-9258(17)33956-X. PMID 8206890.
MacInnes MA, Dickson JA, Hernandez RR, Learmonth D, Lin GY, Mudgett JS, Park MS, Schauer S, Reynolds RJ, Strniste GF (October 1993). "Human ERCC5 cDNA-cosmid complementation for excision repair and bipartite amino acid domains conserved with RAD proteins of Saccharomyces cerevisiae and Schizosaccharomyces pombe". Molecular and Cellular Biology. 13 (10): 6393–402. doi:10.1128/MCB.13.10.6393. PMC 364698. PMID 8413238.
Scherly D, Nouspikel T, Corlet J, Ucla C, Bairoch A, Clarkson SG (May 1993). "Complementation of the DNA repair defect in xeroderma pigmentosum group G cells by a human cDNA related to yeast RAD2". Nature. 363 (6425): 182–5. Bibcode:1993Natur.363..182S. doi:10.1038/363182a0. PMID 8483504. S2CID 9713824.
O'Donovan A, Wood RD (May 1993). "Identical defects in DNA repair in xeroderma pigmentosum group G and rodent ERCC group 5". Nature. 363 (6425): 185–8. Bibcode:1993Natur.363..185O. doi:10.1038/363185a0. PMID 8483505. S2CID 4372167.
Iyer N, Reagan MS, Wu KJ, Canagarajah B, Friedberg EC (February 1996). "Interactions involving the human RNA polymerase II transcription/nucleotide excision repair complex TFIIH, the nucleotide excision repair protein XPG, and Cockayne syndrome group B (CSB) protein". Biochemistry. 35 (7): 2157–67. doi:10.1021/bi9524124. PMID 8652557.
Park MS, Knauf JA, Pendergrass SH, Coulon CH, Strniste GF, Marrone BL, MacInnes MA (August 1996). "Ultraviolet-induced movement of the human DNA repair protein, Xeroderma pigmentosum type G, in the nucleus". Proceedings of the National Academy of Sciences of the United States of America. 93 (16): 8368–73. Bibcode:1996PNAS...93.8368P. doi:10.1073/pnas.93.16.8368. PMC 38677. PMID 8710877.

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: ENSMUSG00000026048 - 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.

[pmid8088806-4] Samec S, Jones TA, Corlet J, Scherly D, Sheer D, Wood RD, Clarkson SG (May 1994). "The human gene for xeroderma pigmentosum complementation group G (XPG) maps to 13q33 by fluorescence in situ hybridization". Genomics. 21 (1): 283–5. doi:10.1006/geno.1994.1261. PMID 8088806.

[entrez-5] "Entrez Gene: ERCC5 excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))".

[6] Drury S, Boustred C, Tekman M, Stanescu H, Kleta R, Lench N, Chitty LS, Scott RH (July 2014). "A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation". American Journal of Medical Genetics. Part A. 164A (7): 1777–83. doi:10.1002/ajmg.a.36506. PMID 24700531. S2CID 8023991.

[pmid25299392-7] ۷٫۰ ^۷٫۱ Barnhoorn S, Uittenboogaard LM, Jaarsma D, Vermeij WP, Tresini M, Weymaere M, Menoni H, Brandt RM, de Waard MC, Botter SM, Sarker AH, Jaspers NG, van der Horst GT, Cooper PK, Hoeijmakers JH, van der Pluijm I (October 2014). "Cell-autonomous progeroid changes in conditional mouse models for repair endonuclease XPG deficiency". PLOS Genetics. 10 (10): e1004686. doi:10.1371/journal.pgen.1004686. PMC 4191938. PMID 25299392.

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