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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
WIPI1 - WD Repeat Domain, Phosphoinositide Interacting 1
Alias:
ATG18
ATG18A
WIPI49
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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WD40重复蛋白。WD40重复蛋白家族成员是许多基本生物功能的关键组成部分。它们通过提供一个β-螺旋平台来调节多蛋白复合物的组装,实现同时和可逆的蛋白质间相互作用。WD40重复蛋白的WIPI亚家族成员具有7刃螺旋结构,并包含一个与磷脂相互作用的保护基序。可变剪接导致多个转录变异体。[RefSeq, 2016年3月提供]
Related ID:
NCBI:55062
ENSEMBL:ENSG00000070540
HGNC:25471
UNIPROT:Q5MNZ9
OMIM:609224
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
55062
3
13
36216 bp
48.67
19
--
3
21
WIPI1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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Name
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Status
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References Literature
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