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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
HOOK1 - Hook Microtubule Tethering Protein 1
Alias:
HK1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个钩状螺旋蛋白家族的成员,分别通过其N端和C端结构域结合微管和细胞器。编码的蛋白质定位在亚细胞结构的离散点,并与参与内吞作用的Rab GTPase家族的几个成员相互作用。它被认为将内吞膜的传递与微管细胞骨架连接起来。已经发现了几种替代剪接的转录变异体,但其中一些变异体的完整性质尚未确定。[由RefSeq,2008年7月提供]
Related ID:
NCBI:51361
ENSEMBL:ENSG00000134709
HGNC:19884
UNIPROT:Q9UJC3
OMIM:607820
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
51361
7
22
61374 bp
84.65
31
--
5
17
HOOK1 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
Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
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Acting
Regulation
Detail
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Residues
Reference
Score
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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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