AutismKB 2.0

Annotation Details for MBTPS1


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Basic Information Top
Gene Symbol:MBTPS1 ( KIAA0091,MGC138711,MGC138712,PCSK8,S1P,SKI-1 )
Gene Full Name: membrane-bound transcription factor peptidase, site 1
Band: 16q23.3-q24.1
Quick LinksEntrez ID:8720; OMIM: 603355; Uniprot ID:MBTP1_HUMAN; ENSEMBL ID: ENSG00000140943; HGNC ID: 15456
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000139TAS-Golgi membrane-
GO:0005788TAS-endoplasmic reticulum lumen-
GO:0005789TAS-endoplasmic reticulum membrane-
GO:0005795IEA-Golgi stack-
GO:0016021IEA-integral component of membrane-
GO ID Evidence Qualifier GO_term References
GO:0004222TAS-metalloendopeptidase activity-
GO:0004252EXP-serine-type endopeptidase activity11163209
GO:0004252IMP-serine-type endopeptidase activity21719679
GO ID Evidence Qualifier GO_term References
GO:0006508IMP-proteolysis21719679
GO:0007040IMP-lysosome organization21719679
GO:0008203IEA-cholesterol metabolic process-
GO:0030968TAS-endoplasmic reticulum unfolded protein response-
GO:0031293ISS-membrane protein intracellular domain proteolysis-
GO:0034976ISS-response to endoplasmic reticulum stress-
GO:0036500TAS-ATF6-mediated unfolded protein response22934019
GO:0042990IEA-regulation of transcription factor import into nucleus-
GO:0043687TAS-post-translational protein modification-
GO:0044267TAS-cellular protein metabolic process-
GO:0045540TAS-regulation of cholesterol biosynthetic process-
GO:0051004TAS-regulation of lipoprotein lipase activity-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
MBTPS1HDAC111425919729656 Affinity Capture-Western; Biochemical Activity
MBTPS1HDAC110931519729656 Affinity Capture-Western; Biochemical Activity
MBTPS1HDAC211425919729656 Affinity Capture-Western
MBTPS1HDAC210931619729656 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1927235
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-030131-4909'