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

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

↑ ^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

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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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