ERCC2

Excision repair cross-complementing rodent repair deficiency, complementation group 2
标识
代号 ERCC2; COFS2; EM9; TTD; XPD
扩展标识 遗传学：126340 鼠基因：95413 同源基因：344 GeneCards: ERCC2 Gene
EC編號 3.6.4.12
基因本体论描述
分子功能 · DNA binding

· ATP-dependent DNA helicase activity
· protein kinase activity
· protein binding
· ATP binding
· protein C-terminus binding
· DNA-dependent ATPase activity
· RNA polymerase II carboxy-terminal domain kinase activity
· 5'-3' DNA helicase activity
· metal ion binding
· protein N-terminus binding

· 4 iron, 4 sulfur cluster binding
细胞成分 · SSL2-core TFIIH complex

· nucleus
· nucleoplasm
· holo TFIIH complex
· cytoplasm
· spindle
· cyclin-dependent protein kinase activating kinase holoenzyme complex

· MMXD complex
生物过程 · cell cycle checkpoint

· nucleotide-excision repair, DNA damage removal
· response to hypoxia
· in utero embryonic development
· DNA repair
· transcription-coupled nucleotide-excision repair
· nucleotide-excision repair
· transcription from RNA polymerase I promoter
· transcription initiation from RNA polymerase I promoter
· transcription elongation from RNA polymerase I promoter
· termination of RNA polymerase I transcription
· transcription from RNA polymerase II promoter
· transcription initiation from RNA polymerase II promoter
· transcription elongation from RNA polymerase II promoter
· 7-methylguanosine mRNA capping
· protein phosphorylation
· apoptotic process
· induction of apoptosis
· response to oxidative stress
· chromosome segregation
· aging
· cell proliferation
· UV protection
· post-embryonic development
· gene expression
· viral reproduction
· virus-host interaction
· spinal cord development
· viral reproductive process
· extracellular matrix organization
· bone mineralization
· central nervous system myelin formation
· nucleotide-excision repair, DNA incision
· multicellular organism growth
· hair cell differentiation
· embryonic cleavage
· negative regulation of apoptotic process
· erythrocyte maturation
· positive regulation of DNA binding
· skin development
· small molecule metabolic process
· positive regulation of transcription, DNA-dependent
· positive regulation of transcription from RNA polymerase II promoter
· hair follicle maturation
· positive regulation of viral transcription

· hematopoietic stem cell differentiation
Sources: Amigo / QuickGO
RNA表达模式
更多表达数据
直系同源体
物种 人类 小鼠
Entrez 2068 13871
Ensembl ENSG00000104884 ENSMUSG00000030400
UniProt P18074 O08811
mRNA序列 NM_000400 NM_007949
蛋白序列 NP_000391 NP_031975
基因位置 Chr 19:
45.85 – 45.87 Mb		 Chr 7:
19.38 – 19.4 Mb
PubMed查询 [1] [2]
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ERCC2 或 XPD是一种涉及转录偶联核苷酸切除修复的蛋白质。

参考文献

延伸阅读

  • Broughton BC, Thompson AF, Harcourt SA; et al. Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome.. Am. J. Hum. Genet. 1995, 56 (1): 167–74. PMC 1801309 可免费查阅. PMID 7825573.  引文格式1维护：显式使用等标签 (link)
  • Jeang KT. Tat, Tat-associated kinase, and transcription.. J. Biomed. Sci. 1998, 5 (1): 24–7. PMID 9570510. doi:10.1007/BF02253352. 
  • Yankulov K, Bentley D. Transcriptional control: Tat cofactors and transcriptional elongation.. Curr. Biol. 1998, 8 (13): R447–9. PMID 9651670. doi:10.1016/S0960-9822(98)70289-1. 
  • Cleaver JE, Thompson LH, Richardson AS, States JC. A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.. Hum. Mutat. 1999, 14 (1): 9–22. PMID 10447254. doi:10.1002/(SICI)1098-1004(1999)14:1<9::AID-HUMU2>3.0.CO;2-6. 
  • Lehmann AR. The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases.. Genes Dev. 2001, 15 (1): 15–23. PMID 11156600. doi:10.1101/gad.859501. 
  • Benhamou S, Sarasin A. ERCC2/XPD gene polymorphisms and cancer risk.. Mutagenesis. 2003, 17 (6): 463–9. PMID 12435843. doi:10.1093/mutage/17.6.463. 
  • Clarkson SG, Wood RD. Polymorphisms in the human XPD (ERCC2) gene, DNA repair capacity and cancer susceptibility: an appraisal.. DNA Repair (Amst.). 2006, 4 (10): 1068–74. PMID 16054878. doi:10.1016/j.dnarep.2005.07.001. 

外部链接


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切除修复
  • 碱基切除修复（英语：Base excision repair）/AP位点
    • DNA糖基化酶（英语：DNA glycosylase）
    • 尿嘧啶-DNA糖基化酶（英语：Uracil-DNA glycosylase）
    • 多聚ADP核糖聚合酶（英语：Poly ADP ribose polymerase）
  • 核苷酸切除修复/ERCC
    • XPA
    • XPB
    • XPC
    • XPD/ERCC2
    • XPE/DDB1
    • XPF/DDB1
    • XPG/ERCC5
    • ERCC1
    • RPA
    • RAD23A
    • RAD23B
    • Excinuclease
  • DNA错配修复
    • MLH1
    • MSH2
其他形式修复
其他/未分組蛋白質
調整
其他/未分組
  • 8-Oxoguanine
  • Adaptive response
  • Meiotic recombination checkpoint
  • RecF pathway
  • DNA helicase: BLM
  • WRN
  • FANC proteins: core protein complex
    • FANCA
    • FANCB
    • FANCC
    • FANCE
    • FANCF
    • FANCG
    • FANCL
    • FANCM
  • FANCD1
  • FANCD2
  • FANCI
  • FANCJ
  • FANCN
另见：疾病
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遗传学索引
描述
  • 生化
  • 基因表达
  • DNA
    • 复制
    • 周期蛋白
    • 基因重组
    • 修复
  • 转录
    • 转录因子与细胞内受体
    • 辅调节因子
    • RNA
    • 重复序列
    • 转录后修饰
  • 翻译
    • 核糖体亚基
    • 翻译后修饰
    • 分拣蛋白（英语：Template:Sorting nexin）
  • DNA结合蛋白（英语：Template:DNA-binding proteins）/RNA结合蛋白（英语：Template:RNA-binding proteins）
    • 核糖核蛋白)
  • 蛋白质
    • 结构域
    • 结构
      • 1°
      • 2°
      • 2+°
      • 3°
      • 4°
疾病
  • Replication and repair（英语：Template:DNA replication and repair-deficiency disorder）
  • Transcription factor（英语：Template:Transcription factor and coregulator deficiencies）
  • 转录相关疾病（英语：Template:Disorders of transcription and post transcriptional modification）
  • 轉譯相關疾病