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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
AUP1 - AUP1 Lipid Droplet Regulating VLDL Assembly Factor
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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参与几个途径,包括内质网中错折叠蛋白质的质量控制以及脂质滴的积累。脂质滴是细胞质中的细胞器,储存中性脂质,如胆固醇酯和甘油三酯,以防止细胞中游离胆固醇和脂肪酸的过量,同时也作为其他代谢过程,如膜生物发生的储存。这个基因的表达减少会导致脂质滴聚集减少,这个功能依赖于蛋白质的泛素化。这个蛋白质包含多个结构域,包括一个疏水性的N-末端结构域,一个乙酰转移酶结构域,一个泛素结合CUE结构域,和一个UBE2B2结合结构域(G2BR)。可变剪接导致多个转录变异体。[由RefSeq,2014年11月提供]
Related ID:
NCBI:550
ENSEMBL:ENSG00000115307
HGNC:891
UNIPROT:Q9Y679
OMIM:602434
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
550
1
12
3055 bp
45.79
33
--
--
20
AUP1 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
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Cell-specific RNA expression
Organ
Abundance
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Interactions
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Acting
Regulation
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Mechanism
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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
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Link
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References Literature
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IF
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