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中文人类
DPM1 - Dolichyl-phosphate Mannosyltransferase Subunit 1, Catalytic
Alias:
MPDS
CDGIE
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多磷酸甘露糖(Dol-P-Man)在内质网(ER)腔侧作为甘露糖残基的供体。缺乏Dol-P-Man导致GPI锚定蛋白的表面表达缺陷。Dol-P-Man由ER胞质侧的酶多磷酸甘露糖磷酸转移酶从GDP-甘露糖和多磷酸醇磷酸合成。人类DPM1缺乏羧基端跨膜结构和信号序列，并被DPM2调节。该基因的突变与先天性糖基化异常Ie型相关。替代剪接导致多个转录变异体。[RefSeq,2015年11月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
DPM1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
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Tile View
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Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
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Abundance
Alphabetical
Interactions
Acting
Regulation
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Score
Related Mouse Models
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Name
MGI
Strain of Origin
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References Literature
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