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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
HCFC1 - Host Cell Factor C1
Alias:
CFF
HCF
HCF1
HFC1
MRX3
VCAF
HCF-1
MAHCX
XLID3
PPP1R89
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因是宿主细胞因子家族的成员,编码一个具有五个Kelch重复序列、一个类纤维连接蛋白基序和六个HCF重复序列的蛋白质,每个重复序列都包含一个高度特异性的切割信号。这个核共激活因子在六个可能的位点之一处被蛋白水解切割,从而产生一个N端链和相应的C端链。这个蛋白质的最终形式由非共价结合的N端和C端链组成。该蛋白质参与单纯疱疹病毒感染期间细胞周期控制和转录调控的控制。已经描述了编码不同蛋白质异型体的替代剪接变体;然而,并非所有变体都得到了充分的研究。[由RefSeq,2008年7月提供]
Related ID:
NCBI:3054
ENSEMBL:ENSG00000172534
HGNC:4839
UNIPROT:P51610
OMIM:300019
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3054
17
26
24262 bp
208.73
598
4
4
57
HCFC1 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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Regulation
Detail
Mechanism
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Residues
Reference
Score
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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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