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中文人类
IQCB1 - IQ Motif Containing B1
Alias:
PIQ
NPHP5
SLSN5
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这个基因编码一个与钙调素和视网膜色素变性GTP酶调节蛋白相互作用的肾囊肿蛋白。编码的蛋白质具有一个中央螺旋区域和两个钙调素结合的IQ结构域。它定位在肾上皮细胞的主要纤毛和光感受器细胞的连接纤毛上。该蛋白质被认为在纤毛功能中起作用。这个基因的缺陷导致Senior-Loken综合征5型。替代剪接产生多个转录变异体。这个基因的一个假基因位于染色体6上。[由RefSeq，2016年1月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
IQCB1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
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
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
