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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
ARF1 - ADP Ribosylation Factor 1
Alias:
PVNH8
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
ADP-核糖基化因子1 (ARF1) 是人ARF基因家族的成员。这个家族的成员编码小的鸟苷酸核苷酸结合蛋白,刺激霍乱毒素的ADP-核糖基转移酶活性,并作为磷脂酶D的激活子在囊泡运输中发挥作用。基因产物,包括6个ARF蛋白和11个ARF样蛋白,构成了RAS超家族的家庭。ARF蛋白分为I类(ARF1, ARF2和ARF3),II类(ARF4和ARF5)和III类(ARF6),每类的成员共享共同的基因组织。ARF1蛋白定位到高尔基体,并在高尔基体内的运输中起核心作用。已经发现这个基因的多个可变剪接转录变异体,编码相同的蛋白质。[RefSeq,2008年7月提供]
Related ID:
NCBI:375
ENSEMBL:ENSG00000143761
HGNC:652
UNIPROT:P84077
OMIM:103180
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
375
4
5
16505 bp
20.70
21
2
5
30
ARF1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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