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]

Basic Information

NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
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

Table View
Tile View
#
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
Alphabetical

Cell-specific RNA expression

Organ
Abundance
Alphabetical

Interactions

Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available

Related Mouse Models

Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
Link
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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Mutation Direct
Sequence
Comparison
Al agent
Tutorials
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