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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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人类
UBTF - Upstream Binding Transcription Factor
Alias:
UBF
UBF1
UBF2
UBF-1
CONDBA
NOR-90
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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HMG-box DNA结合蛋白家族的成员。编码的蛋白质在核糖体RNA转录中扮演关键角色,作为起始前复合物的关键组成部分,将RNA聚合酶I招募到rDNA启动子区域。这个蛋白质也可能在染色质重塑和预rRNA加工中扮演重要角色,其活性受到磷酸化和乙酰化的共同调节。已经观察到了这个基因的替代剪接转录变异体,编码多种异构体。这个基因的假基因位于染色体3号、11号和X号的短臂以及染色体11号的长臂。[RefSeq提供,2011年8月]
Related ID:
NCBI:7343
ENSEMBL:ENSG00000108312
HGNC:12511
UNIPROT:P17480
OMIM:600673
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7343
3
21
16265 bp
89.41
68
2
7
22
UBTF 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
Alphabetical
Interactions
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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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