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中文人类
MAPKBP1 - Mitogen-activated Protein Kinase Binding Protein 1
Alias:
JNKBP1
NPHP20
JNKBP-1
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这个基因编码一个调节JNK（c-Jun N-末端激酶）和NOD2（含核苷酸结合寡聚域蛋白2）信号通路的大架蛋白。编码的蛋白质通过一个保守的二聚化结构域与另一个相关的JNK通路支架蛋白WDR62相互作用，并增强JNK信号。这个蛋白质可能通过结合NOD2受体并负调控下游抗菌和抗炎信号，在细菌免疫中发挥作用。这个基因中的突变导致编码的蛋白质的细胞定位受损，引起人类患者的一种常染色体隐性肾脏疾病，即肾髓质病。[RefSeq提供，2017年5月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
MAPKBP1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
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Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
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Name
MGI
Strain of Origin
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Related Drugs
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CAS Number
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Phase
Link
References Literature
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PMID
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Year
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