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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
PDZK1 - PDZ Domain Containing 1
Alias:
CAP70
CLAMP
PDZD1
NHERF3
NHERF-3
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个包含PDZ结构域的支架蛋白。PDZ结构域分子与靶蛋白质结合并调节其亚细胞定位。编码的蛋白质调节细胞表面蛋白质的定位,并通过调节HDL受体,清道夫受体B1型在胆固醇代谢中扮演关键角色。这个基因的单核苷酸多态性可能与代谢综合症有关,这个基因的过度表达可能在多发性骨髓瘤的药物抗性中发挥作用。这个基因的假基因位于染色体1的长臂上。已经观察到这个基因的替代剪接转录变异体编码多种异构体。[由RefSeq,2011年1月提供]
Related ID:
NCBI:5174
ENSEMBL:ENSG00000174827
HGNC:8821
UNIPROT:Q5T2W1
OMIM:603831
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5174
11
9
36549 bp
57.13
15
--
8
11
PDZK1 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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Interactions
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
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Related Drugs
Name
CAS Number
Status
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Link
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References Literature
Title
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Journal
Year
IF
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