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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
APPL1 - Adaptor Protein, Phosphotyrosine Interacting With PH Domain And Leucine Zipper 1
Alias:
APPL
MODY14
DIP13alpha
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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已被证明参与细胞增殖的调节,以及adiponectin信号通路和胰岛素信号通路之间的相互作用。编码的蛋白质可以与许多其他蛋白质结合,包括RAB5A、DCC、AKT2、PIK3CA、adiponectin受体和NuRD/MeCP1复合物的蛋白质。这种蛋白质存在于内质网膜上,但可以被EGF释放并转运到细胞核。[由RefSeq,2008年7月提供]
Related ID:
NCBI:26060
ENSEMBL:ENSG00000157500
HGNC:24035
UNIPROT:Q9UKG1
OMIM:604299
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
26060
2
22
45743 bp
79.66
109
2
7
27
APPL1 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
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Cell-specific RNA expression
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Abundance
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Interactions
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Acting
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Type
Name
MGI
Strain of Origin
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Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
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Journal
Year
IF
No Data Found!
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