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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
ESR1 - Estrogen Receptor 1
Alias:
ER
ESR
Era
ESRA
ESTRR
NR3A1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种雌激素受体和配体激活的转录因子。标准蛋白质含有N端的配体非依赖的转激活结构域,一个中央的DNA结合结构域,一个铰链结构域,和一个C端的配体依赖的转激活结构域。该蛋白定位在细胞核中,可以与雌激素受体2形成同源二聚体或异源二聚体。这个基因编码的蛋白质调节许多雌激素诱导的基因的转录,这些基因在生长、代谢、性发育、妊娠和其他生殖功能中发挥作用,并在许多非生殖组织中表达。这个基因编码的受体在乳腺癌、子宫内膜癌和骨质疏松症中起着关键作用。这个基因据报道有数十种转录变异体,由于使用替代启动子和可变剪接,然而许多这些变异体的完整性质仍不确定。[由RefSeq,2020年7月提供]
Related ID:
NCBI:2099
ENSEMBL:ENSG00000091831
HGNC:3467
UNIPROT:P03372
OMIM:133430
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2099
33
8
472948 bp
66.22
183
4
44
116
ESR1 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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Name
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Status
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Link
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References Literature
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