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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
FNBP1 - Formin Binding Protein 1
Alias:
FBP17
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Description
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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是formin结合蛋白家族的成员。该蛋白质包含一个N-端Fer/Cdc42相互作用蛋白4(CIP4)同源(FCH)结构域,后面跟着一个螺旋-螺旋结构域,一个富含脯氨酸基序,一个第二螺旋-螺旋结构域,一个Rho家族蛋白结合结构域(RBD),和一个C-端SH3结构域。这个蛋白质结合分类nexin 2(SNX2),tankyrase(TNKS)和动力蛋白;然而,这个蛋白质与formin在人中的相互作用尚未得到证实。[由RefSeq,2008年7月提供]
Related ID:
NCBI:23048
ENSEMBL:ENSG00000187239
HGNC:17069
UNIPROT:Q96RU3
OMIM:606191
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
23048
36
17
166693 bp
71.31
23
--
3
27
FNBP1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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Mutations
No data available
Transcripts & Proteins
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Transcript
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Interactions
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Name
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Status
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No data available
References Literature
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