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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
RBL1 - RB Transcriptional Corepressor Like 1
Alias:
PRB1
p107
CP107
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质在序列上可能与视网膜母细胞瘤1(RB1)基因的产品具有相似性,可能在功能上也是如此。RB1基因的产品是一种肿瘤抑制蛋白,似乎涉及细胞周期的调节,因为在S期到M期的过渡中是磷酸化的,而在细胞周期的G1期中去磷酸化。RB1蛋白和这个基因的产品都可以与腺病毒E1A蛋白和SV40大T抗原形成复合物,但SV40大T抗原只能与每个蛋白的未磷酸化形式结合。此外,这两种蛋白质都可以抑制其启动子中包含E2F结合位的细胞周期基因的转录。由于与RB1蛋白的序列和生物化学相似性,认为这个基因编码的蛋白质也可能是一个肿瘤抑制物。已经发现这个基因有两个编码不同异型的转录变异体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:5933
ENSEMBL:ENSG00000080839
HGNC:9893
UNIPROT:P28749
OMIM:116957
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5933
7
22
99649 bp
120.85
36
--
12
16
RBL1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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