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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
RB1 - RB Transcriptional Corepressor 1
Alias:
RB
pRb
OSRC
pp110
p105-Rb
PPP1R130
p110-RB1
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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是细胞周期的负调控因子,是第一个被发现的肿瘤抑制基因。编码的蛋白质还能稳定恒定的异质染色质,以维持整体的染色质结构。该蛋白质的活性、低磷酸化形式与转录因子E2F1结合。这个基因的缺陷是导致儿童癌症视网膜母细胞瘤(RB)、膀胱癌和骨源性肉瘤的原因。[RefSeq,2008年7月提供]
Related ID:
NCBI:5925
ENSEMBL:ENSG00000139687
HGNC:9884
UNIPROT:P06400
OMIM:614041
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5925
5
27
178140 bp
106.16
2806
14
39
85
RB1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
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Acting
Regulation
Detail
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Residues
Reference
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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