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中文人类
MBTPS1 - Membrane Bound Transcription Factor Peptidase, Site 1
Alias:
S1P
PCSK8
SEDKF
SKI-1
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这个基因编码一种属于枯草芽孢杆菌样前蛋白转化酶家族的成员，该家族包括处理通过分泌途径的调节或组成分支进行运输的蛋白质和肽前体的过程。编码的蛋白质在ER中经历初始自催化加工事件，生成异源二聚体，然后离开ER并分选到顺式/介质的谷氨酸中，在那里发生第二次自催化事件并获得催化活性。它编码一种1型膜结合蛋白酶，这种酶在细胞质中普遍表达，并通过在非碱性残基处切割底物来调节胆固醇或脂质稳态。这个基因的突变可能与溶酶体功能紊乱有关。[RefSeq，2014年2月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
MBTPS1 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
