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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
AP1M1 - Adaptor Related Protein Complex 1 Subunit Mu 1
Alias:
AP47
mu1A
CLTNM
MU-1A
CLAPM2
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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是位于高尔基体的中间部分,与氯素蛋白复合物AP-1相关。这个复合物的其他成分包括beta-prime-适应蛋白、gamma-适应蛋白和小链AP1S1。这个复合物位于高尔基体囊泡上,将氯素蛋白与有涂层囊泡中的受体连接起来。这些囊泡涉及到内吞作用和高尔基体加工。这个基因的不同剪接转录变异体已经发现,它们编码不同的蛋白质异构体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:8907
ENSEMBL:ENSG00000072958
HGNC:13667
UNIPROT:Q9BXS5
OMIM:603535
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
8907
2
12
47996 bp
48.59
12
--
2
9
AP1M1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Mutations
No data available
Transcripts & Proteins
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Transcript
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CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
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Cell-specific RNA expression
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Name
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Status
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Link
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References Literature
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