XPB

ERCC3
ساختارهای موجود
PDB	جستجوی هم‌ساخت‌شناسی: PDBe RCSB
فهرست شناسه‌های PDB
	4ERN, 5IY9, 5IVW, 5IY7, 5IY8, 5IY6
معین‌کننده‌ها
نام‌های دیگر	ERCC3, excision repair cross-complementation group 3, BTF2, GTF2H, RAD25, TFIIH, XPB, TTD2, ERCC excision repair 3, TFIIH core complex helicase subunit, Ssl2
شناسه‌های بیرونی	OMIM: 133510 MGI: 95414 HomoloGene: 96 GeneCards: ERCC3
موقعیت ژن (موش)
کروموزوم	کروموزوم ۱۸ (موش)
پایان	32,403,204 bp
الگوی گسترش RNA
	More reference expression data
هستی‌شناسی ژن
عملکرد ملکولی	• protein C-terminus binding; • nucleotide binding; • GO:0004003 DNA helicase activity; • protein kinase activity; • hydrolase activity; • ATP-dependent activity, acting on DNA; • protein N-terminus binding; • GO:0043140 3'-5' DNA helicase activity; • ATP binding; • damaged DNA binding; • DNA binding; • transcription factor binding; • GO:0001948، GO:0016582 پیوند پروتئینی; • GO:0008026 helicase activity; • RNA polymerase II CTD heptapeptide repeat kinase activity; • ATPase activity; • DNA translocase activity;
ترکیبات سلولی	• GO:0000441 transcription factor TFIIH core complex; • هسته یاخته; • نوکلئوپلاسم; • transcription factor TFIIH holo complex; • transcription factor TFIID complex; • nucleotide-excision repair factor 3 complex; • transcription preinitiation complex;
فرایند زیستی	• response to hypoxia; • termination of RNA polymerase I transcription; • embryonic organ development; • transcription, DNA-templated; • واکنش به فرابنفش; • 7-methylguanosine mRNA capping; • nucleotide-excision repair, DNA incision; • regulation of mitotic cell cycle phase transition; • GO:0097285 مرگ برنامه‌ریزی‌شده یاخته; • positive regulation of apoptotic process; • protein phosphorylation; • hair cell differentiation; • GO:0001306 پاسخ به استرس اکسیداتیو; • UV protection; • cellular response to DNA damage stimulus; • transcription initiation from RNA polymerase II promoter; • global genome nucleotide-excision repair; • GO:0034613 protein localization; • transcription elongation from RNA polymerase II promoter; • GO:0009373 regulation of transcription, DNA-templated; • GO:0003257، GO:0010735، GO:1901228، GO:1900622، GO:1904488 positive regulation of transcription by RNA polymerase II; • DNA topological change; • transcription initiation from RNA polymerase I promoter; • transcription by RNA polymerase II; • transcription-coupled nucleotide-excision repair; • nucleotide-excision repair; • nucleotide-excision repair, preincision complex stabilization; • GO:0100026 بازسازی دی‌ان‌ای; • GO:0022415 viral process; • nucleotide-excision repair, preincision complex assembly; • nucleotide-excision repair, DNA incision, 5'-to lesion; • nucleotide-excision repair, DNA duplex unwinding; • regulation of mitotic recombination; • promoter clearance from RNA polymerase II promoter; • transcription open complex formation at RNA polymerase II promoter; • regulation of transposition, RNA-mediated; • phosphorylation of RNA polymerase II C-terminal domain; • regulation of RNA polymerase II regulatory region sequence-specific DNA binding; • nucleotide-excision repair, DNA incision, 3'-to lesion; • GO:0001183 transcription elongation from RNA polymerase I promoter;
	منابع: آمیگو / کوئیک‌گو
هم‌ساخت‌شناسی
	2071
	13872
	ENSG00000163161
	ENSMUSG00000024382
	P19447
	P49135
	NM_000122، NM_001303416، NM_001303418، XM_011510794 XM_011510795، NM_000122، NM_001303416، NM_001303418، XM_011510794
	XM_006525636، XR_385973 NM_133658، XM_006525636، XR_385973
	NP_001290345، NP_001290347، XP_011509096، XP_011509097، XP_016859072 NP_000113، NP_001290345، NP_001290347، XP_011509096، XP_011509097، XP_016859072
	XP_006525699 NP_598419، XP_006525699
	ویکی‌داده
مشاهده/ویرایش انسان	مشاهده/ویرایش موش

گزرودرما پیگمنتوزوم نوع بی با به اختصار XPB یک دی‌ان‌ای هلیکاز وابسته به آدنوزین تری‌فسفات است که در انسان بخشی از یک مولکول پیچیدهٔ فاکتور رونویسی را تشکیل می‌دهد و توسط ژن «XPB» کُدگذاری می‌شود.

شکل فضایی سه بعدی این مولکول با استفاده از روش بلورنگاری با اشعهٔ ایکس در مؤسسه پژوهشی اسکریپس تعیین شده‌است.^[۴]

اهمیت بالینی

جهش در ژن «XPB» سبب بروز بیماری نادر گزرودرما پیگمنتوزوم می‌شود که طی آن فرد در صورت مواجهه با اشعهٔ ماورا بنفش نور خورشید دچار سرطان پوست می‌شود. جهش در این ژن همچنین می‌تواند منجر به سندرم کاکین و تریکوتیودیستروفی شود.

جستارهای وابسته

گزرودرما پیگمنتوزوم

منابع

1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000024382 - 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.
↑ Fan L, Arvai AS, Cooper PK, Iwai S, Hanaoka F, Tainer JA (April 2006). "Conserved XPB Core Structure and Motifs for DNA Unwinding: Implications for Pathway Selection of Transcription or Excision Repair". Molecular Cell. 22 (1): 27–37. doi:10.1016/j.molcel.2006.02.017. PMID 16600867.

برای مطالعهٔ بیشتر

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پیوند به بیرون

XPBC-ERCC-3 protein در سرعنوان‌های موضوعی پزشکی (MeSH) در کتابخانهٔ ملی پزشکی ایالات متحدهٔ آمریکا

[refGRCm38Ensembl-1] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000024382 - 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.

[fan2006-4] Fan L, Arvai AS, Cooper PK, Iwai S, Hanaoka F, Tainer JA (April 2006). "Conserved XPB Core Structure and Motifs for DNA Unwinding: Implications for Pathway Selection of Transcription or Excision Repair". Molecular Cell. 22 (1): 27–37. doi:10.1016/j.molcel.2006.02.017. PMID 16600867.

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