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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
EP300 - E1A Binding Protein P300
Alias:
p300
KAT3B
MKHK2
RSTS2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码腺病毒E1A相关的细胞p300转录共激活蛋白。它作为组蛋白乙酰转移酶,通过染色质重塑调控转录,并在细胞增殖和分化的过程中发挥重要作用。它通过特异性地结合磷酸化的CREB蛋白,调节cAMP基因的调控。这个基因还被鉴定为HIF1A(低氧诱导因子1α)的共激活子,因此在刺激低氧诱导的基因如VEGF方面发挥作用。这个基因的缺陷是导致Rubinstein-Taybi综合征的原因,也可能在上皮癌症中发挥作用。[RefSeq,2008年7月提供]
Related ID:
NCBI:2033
ENSEMBL:ENSG00000100393
HGNC:3373
UNIPROT:Q09472
OMIM:602700
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2033
2
31
87486 bp
264.16
1230
7
14
130
EP300 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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#
Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
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Name
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CAS Number
Status
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Link
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References Literature
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IF
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