ENSG00000140943


Homo sapiens

Features
Gene ID: ENSG00000140943
  
Biological name :MBTPS1
  
Synonyms : MBTPS1 / membrane bound transcription factor peptidase, site 1 / Q14703
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: -1
Band: q24.1
Gene start: 84053761
Gene end: 84116906
  
Corresponding Affymetrix probe sets: 201620_at (Human Genome U133 Plus 2.0 Array)   217543_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000344223
Ensembl peptide - ENSP00000457508
Ensembl peptide - ENSP00000457954
Ensembl peptide - ENSP00000481088
Ensembl peptide - ENSP00000456553
NCBI entrez gene - 8720     See in Manteia.
OMIM - 603355
RefSeq - XM_017023817
RefSeq - NM_003791
RefSeq - XM_017023816
RefSeq Peptide - NP_003782
swissprot - H3BV53
swissprot - A0A087WXJ6
swissprot - Q14703
swissprot - H3BS61
swissprot - H3BU75
Ensembl - ENSG00000140943
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 mbtps1ENSDARG00000014634Danio rerio
 MBTPS1ENSGALG00000003293Gallus gallus
 Mbtps1ENSMUSG00000031835Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR000209  Peptidase S8/S53 domain
 IPR015500  Peptidase S8, subtilisin-related
 IPR022398  Peptidase S8, subtilisin, His-active site
 IPR023828  Peptidase S8, subtilisin, Ser-active site
 IPR029062  Class I glutamine amidotransferase-like
 IPR034185  Site-1 peptidase catalytic domain
 IPR036852  Peptidase S8/S53 domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0007040 lysosome organization IMP
 biological_processGO:0008202 steroid metabolic process IEA
 biological_processGO:0008203 cholesterol metabolic process IEA
 biological_processGO:0030968 endoplasmic reticulum unfolded protein response TAS
 biological_processGO:0031293 membrane protein intracellular domain proteolysis ISS
 biological_processGO:0034976 response to endoplasmic reticulum stress ISS
 biological_processGO:0036500 ATF6-mediated unfolded protein response TAS
 biological_processGO:0042990 obsolete regulation of transcription factor import into nucleus IEA
 biological_processGO:0043687 post-translational protein modification TAS
 biological_processGO:0044267 cellular protein metabolic process TAS
 biological_processGO:0045540 regulation of cholesterol biosynthetic process TAS
 cellular_componentGO:0000139 Golgi membrane TAS
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005788 endoplasmic reticulum lumen TAS
 cellular_componentGO:0005789 endoplasmic reticulum membrane TAS
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005795 Golgi stack IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0004175 endopeptidase activity IEA
 molecular_functionGO:0004222 metalloendopeptidase activity TAS
 molecular_functionGO:0004252 serine-type endopeptidase activity IEA
 molecular_functionGO:0008233 peptidase activity IEA
 molecular_functionGO:0008236 serine-type peptidase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA


Pathways (from Reactome)
Pathway description
Regulation of cholesterol biosynthesis by SREBP (SREBF)
ATF6 (ATF6-alpha) activates chaperones
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
CREB3 factors activate genes
Post-translational protein phosphorylation
Assembly of active LPL and LIPC lipase complexes


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000198911 Q12772 / SREBF2 / sterol regulatory element binding transcription factor 2  / reaction
 ENSG00000060566 Q68CJ9 / CREB3L3 / cAMP responsive element binding protein 3 like 3  / reaction
 ENSG00000114650 SCAP / Q12770 / SREBF chaperone  / reaction
 ENSG00000143578 Q8TEY5 / CREB3L4 / cAMP responsive element binding protein 3 like 4  / reaction
 ENSG00000157613 Q96BA8 / CREB3L1 / cAMP responsive element binding protein 3 like 1  / reaction
 ENSG00000182158 Q70SY1 / CREB3L2 / cAMP responsive element binding protein 3 like 2  / reaction
 ENSG00000072310 P36956 / SREBF1 / sterol regulatory element binding transcription factor 1  / reaction
 ENSG00000107175 CREB3 / O43889 / cAMP responsive element binding protein 3  / reaction
 ENSG00000118217 ATF6 / P18850 / activating transcription factor 6  / reaction






 

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