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中文人类
POGLUT1 - Protein O-glucosyltransferase 1
Alias:
Rumi
CLP46
MDSRP
C3orf9
KTELC1
LGMD2Z
MDS010
hCLP46
KDELCL1
LGMDR21
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这个基因编码一个具有O-葡萄糖基转移酶和O-木糖基转移酶活性的蛋白质，定位在内质网腔中。这个蛋白质具有羧基端KTEL基序，预测具有内质网保留信号的功能。这个基因是Notch信号传导的必需调节因子，可能在发育过程中的细胞命运和组织形成中发挥作用。它也可能参与白血病发病机制。这个基因的突变与常染色体显性遗传性皮肤病Dowling-Degos病4有关。可变剪接导致多个转录变异体。[由RefSeq，2014年4月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
POGLUT1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
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
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
