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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
AKTIP - AKT Interacting Protein
Alias:
FT1
FTS
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因的鼠类同系物在杂合子突变动物中产生融合的脚趾和胸腺增生,而纯合子突变体在早期发育过程中死亡。这个基因可能在凋亡中发挥作用,因为这些形态学异常是由程序性细胞死亡模式的改变引起的。这个基因编码的蛋白质与其他泛素连接酶域相似的泛素结合酶,但没有保守的半胱氨酸残基,这使得那些酶能够将泛素与目标蛋白质结合。这个蛋白质直接与丝氨酸/苏氨酸激酶蛋白激酶B(PKB/Akt)相互作用,并通过增强PKB调控位点的磷酸化来调节PKB的活性。选择性剪接产生了两种编码相同蛋白质的转录变异体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:64400
ENSEMBL:ENSG00000166971
HGNC:16710
UNIPROT:Q9H8T0
OMIM:608483
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
64400
12
10
13373 bp
33.13
7
--
6
6
AKTIP 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
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Alphabetical
Cell-specific RNA expression
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Interactions
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Regulation
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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
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Journal
Year
IF
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