人类

BRCA1 - BRCA1 DNA Repair Associated

Alias:
IRIS
PSCP
BRCAI
BRCC1
FANCS
PNCA4
RNF53
BROVCA1
PPP1R53
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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190kD的核磷酸蛋白,在维持基因组稳定性方面发挥作用,并作为一种肿瘤抑制因子。BRCA1基因包含22个外显子,横跨约110kb的DNA。编码的蛋白质与其他肿瘤抑制因子、DNA损伤传感器和信号转导子结合,形成一个大型的多亚基蛋白质复合物,称为BRCA1相关基因组监控复合物(BASC)。这个基因产物与RNA聚合酶II结合,并通过C端结构域与组蛋白去乙酰化酶复合物相互作用。因此,这个蛋白质在转录、双链断裂的DNA修复和重组中发挥作用。这个基因的突变负责大约40%的遗传性乳腺癌和超过80%的遗传性乳腺癌和卵巢癌。可变剪接在调节这个基因的亚细胞定位和生理功能方面发挥作用。已经描述了这个基因的许多可变剪接转录本变异,其中一些是疾病相关的突变,但只有其中一些变异的全长度已经被描述。一个相关的假基因,也位于染色体17上,已经被识别出来。[RefSeq,2020年5月提供]

Basic Information

NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
368
23
126033 bp
207.72
13374
22
31
106

BRCA1 Genetics information (-)

GRCh38

Sequence Homology

Related Diseases and Mutations

#
Disease
Anatomical Category
Score
Mutations
No data available

Transcripts & Proteins

Table View
Tile View
#
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
Alphabetical

Interactions

Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available

Related Mouse Models

Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
Link
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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