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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
NFKB1 - Nuclear Factor Kappa B Subunit 1
Alias:
KBF1
EBP-1
NF-kB
CVID12
NF-kB1
NFKB-p50
NFkappaB
NF-kappaB
NFKB-p105
NF-kappa-B1
NF-kappabeta
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个105kD的蛋白质,可以被26S蛋白酶体进行翻译后加工,生成一个50kD的蛋白质。105kD的蛋白质是一种Rel蛋白特异性的转录抑制剂,而50kD的蛋白质是NF-kappa-B(NFKB)蛋白质复合物的DNA结合亚基。NFKB是一种转录调节因子,由各种内外刺激如细胞因子、氧化剂、紫外线辐射和细菌或病毒产物激活。激活的NFKB转移到核中,刺激参与多种生物功能的基因的表达。NFKB的不适当激活与许多炎症性疾病有关,而持续抑制NFKB导致不适当的免疫细胞发育或细胞生长延迟。NFKB是病毒感染的早期快速响应的关键调节因子。可变剪接产生多种转录本变异体,编码至少一种被蛋白水解加工的不同异构体。[由RefSeq,2020年8月提供]
Related ID:
NCBI:4790
ENSEMBL:ENSG00000109320
HGNC:7794
UNIPROT:P19838
OMIM:164011
Basic Information
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MW (kDa)
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4790
12
24
115944 bp
105.36
554
3
16
50
NFKB1 Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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