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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
SEC31A - SEC31 Homolog A, COPII Coat Complex Component
Alias:
HPBKS
ABP125
ABP130
HSPC275
HSPC334
NEDSOSB
SEC31L1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质与酵母Sec31蛋白质相似,是衣壳蛋白复合物II(COPII)外层层的组成部分。该编码蛋白质参与内质网(ER)的囊泡萌发,并在N端附近含有多个WD重复序列,C端一半富含脯氨酸区域。它与SEC13同源蛋白编码的蛋白质(核孔和COPII衣壳复合物组件)相关联,并参与ER-高尔基体运输。发现这个蛋白质被CUL3-KLHL12单泛素化,以调节COPII衣壳的大小,以适应异常形状的货物。可选剪接产生多种转录变异体,编码不同的异构体。[由RefSeq,2015年12月提供]
Related ID:
NCBI:22872
ENSEMBL:ENSG00000138674
HGNC:17052
UNIPROT:O94979
OMIM:610257
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
22872
57
27
82061 bp
133.01
59
1
4
28
SEC31A Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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