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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
BACH1 - BTB Domain And CNC Homolog 1
Alias:
BACH-1
BTBD24
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个转录因子,属于帽'n'领型基本区域亮氨酸拉链因子家族(CNC-bZip)。编码的蛋白质包含广泛复杂、轨道、bric-a-brac/痘病毒和锌指(BTB/POZ)结构域,这是CNC-bZip家族成员的典型特征。这些BTB/POZ结构域有助于蛋白质-蛋白质相互作用,并形成同-和/或异源寡聚体。当这个编码蛋白质与MafK形成异源二聚体时,它作为Maf识别元件(MARE)的抑制子发挥作用,从而抑制转录。已经在这个基因中鉴定出多种可变剪接转录变异体。[RefSeq提供,2009年5月]
Related ID:
NCBI:571
ENSEMBL:ENSG00000156273
HGNC:935
UNIPROT:O14867
OMIM:602751
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
571
2
5
62973 bp
81.96
36
--
7
9
BACH1 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
Reset
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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