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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
HAT1 - Histone Acetyltransferase 1
Alias:
KAT1
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Description
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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一种B型组蛋白乙酰转移酶(HAT),参与新合成的细胞质组蛋白的快速乙酰化,然后被导入核中,以新生成地沉积到新生成的DNA链上。组蛋白乙酰化,尤其是组蛋白H4的乙酰化,在复制依赖的染色质组装中起着重要作用。具体来说,这个HAT可以在赖氨酸5和12处乙酰化可溶性的但非核小体组蛋白H4,以及在赖氨酸5处的组蛋白H2A的乙酰化程度较低。已经发现了这个基因的可选剪接转录变异体。[由RefSeq,2009年6月提供]
Related ID:
NCBI:8520
ENSEMBL:ENSG00000128708
HGNC:4821
UNIPROT:O14929
OMIM:603053
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
8520
2
11
61226 bp
49.54
7
--
5
19
HAT1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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Mutations
No data available
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
Tissue-specific RNA expression
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Cell-specific RNA expression
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Type
Name
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Status
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Link
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References Literature
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