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MBTPS1 (membrane bound transcription factor peptidase, site 1)

Identity

Alias_namesmembrane-bound transcription factor protease
Alias_symbol (synonym)S1P
KIAA0091
SKI-1
PCSK8
Other alias
HGNC (Hugo) MBTPS1
LocusID (NCBI) 8720
Atlas_Id 41313
Location 16q23.3  [Link to chromosome band 16q23]
Location_base_pair Starts at 84053761 and ends at 84116943 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
LCT (2q21.3) / MBTPS1 (16q23.3)MBTPS1 (16q23.3) / FAM208A (3p14.3)MBTPS1 (16q23.3) / SERF2 (15q15.3)
PLA2G2A (1p36.13) / MBTPS1 (16q23.3)PLA2G2A 1p36.13 / MBTPS1 16q23.3

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)MBTPS1   15456
Cards
Entrez_Gene (NCBI)MBTPS1  8720  membrane bound transcription factor peptidase, site 1
AliasesPCSK8; S1P; SKI-1
GeneCards (Weizmann)MBTPS1
Ensembl hg19 (Hinxton)ENSG00000140943 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000140943 [Gene_View]  chr16:84053761-84116943 [Contig_View]  MBTPS1 [Vega]
ICGC DataPortalENSG00000140943
TCGA cBioPortalMBTPS1
AceView (NCBI)MBTPS1
Genatlas (Paris)MBTPS1
WikiGenes8720
SOURCE (Princeton)MBTPS1
Genetics Home Reference (NIH)MBTPS1
Genomic and cartography
GoldenPath hg38 (UCSC)MBTPS1  -     chr16:84053761-84116943 -  16q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MBTPS1  -     16q23.3   [Description]    (hg19-Feb_2009)
EnsemblMBTPS1 - 16q23.3 [CytoView hg19]  MBTPS1 - 16q23.3 [CytoView hg38]
Mapping of homologs : NCBIMBTPS1 [Mapview hg19]  MBTPS1 [Mapview hg38]
OMIM603355   
Gene and transcription
Genbank (Entrez)AK054744 AK091212 AK291773 AK299067 AL133583
RefSeq transcript (Entrez)NM_003791 NM_201268
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MBTPS1
Cluster EST : UnigeneHs.75890 [ NCBI ]
CGAP (NCI)Hs.75890
Alternative Splicing GalleryENSG00000140943
Gene ExpressionMBTPS1 [ NCBI-GEO ]   MBTPS1 [ EBI - ARRAY_EXPRESS ]   MBTPS1 [ SEEK ]   MBTPS1 [ MEM ]
Gene Expression Viewer (FireBrowse)MBTPS1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8720
GTEX Portal (Tissue expression)MBTPS1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14703   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14703  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14703
Splice isoforms : SwissVarQ14703
Catalytic activity : Enzyme3.4.21.112 [ Enzyme-Expasy ]   3.4.21.1123.4.21.112 [ IntEnz-EBI ]   3.4.21.112 [ BRENDA ]   3.4.21.112 [ KEGG ]   
PhosPhoSitePlusQ14703
Domaine pattern : Prosite (Expaxy)SUBTILASE_HIS (PS00137)    SUBTILASE_SER (PS00138)   
Domains : Interpro (EBI)Peptidase_S8/S53_dom    Peptidase_S8_His-AS    Peptidase_S8_Ser-AS    Peptidase_S8_subtilisin-rel    Site-1_peptidase_cat_dom   
Domain families : Pfam (Sanger)Peptidase_S8 (PF00082)   
Domain families : Pfam (NCBI)pfam00082   
Conserved Domain (NCBI)MBTPS1
DMDM Disease mutations8720
Blocks (Seattle)MBTPS1
SuperfamilyQ14703
Human Protein AtlasENSG00000140943
Peptide AtlasQ14703
HPRD04522
IPIIPI00021569   IPI00397466   
Protein Interaction databases
DIP (DOE-UCLA)Q14703
IntAct (EBI)Q14703
FunCoupENSG00000140943
BioGRIDMBTPS1
STRING (EMBL)MBTPS1
ZODIACMBTPS1
Ontologies - Pathways
QuickGOQ14703
Ontology : AmiGOGolgi membrane  metalloendopeptidase activity  serine-type endopeptidase activity  serine-type endopeptidase activity  endoplasmic reticulum lumen  endoplasmic reticulum membrane  Golgi stack  proteolysis  lysosome organization  cholesterol metabolic process  integral component of membrane  membrane protein intracellular domain proteolysis  response to endoplasmic reticulum stress  ATF6-mediated unfolded protein response  lipoprotein metabolic process  regulation of transcription factor import into nucleus  
Ontology : EGO-EBIGolgi membrane  metalloendopeptidase activity  serine-type endopeptidase activity  serine-type endopeptidase activity  endoplasmic reticulum lumen  endoplasmic reticulum membrane  Golgi stack  proteolysis  lysosome organization  cholesterol metabolic process  integral component of membrane  membrane protein intracellular domain proteolysis  response to endoplasmic reticulum stress  ATF6-mediated unfolded protein response  lipoprotein metabolic process  regulation of transcription factor import into nucleus  
Pathways : BIOCARTASREBP control of lipid synthesis [Genes]   
Pathways : KEGGProtein processing in endoplasmic reticulum   
NDEx NetworkMBTPS1
Atlas of Cancer Signalling NetworkMBTPS1
Wikipedia pathwaysMBTPS1
Orthology - Evolution
OrthoDB8720
GeneTree (enSembl)ENSG00000140943
Phylogenetic Trees/Animal Genes : TreeFamMBTPS1
HOVERGENQ14703
HOGENOMQ14703
Homologs : HomoloGeneMBTPS1
Homology/Alignments : Family Browser (UCSC)MBTPS1
Gene fusions - Rearrangements
Fusion : MitelmanMBTPS1/SERF2 [16q23.3/15q15.3]  
Fusion : MitelmanPLA2G2A/MBTPS1 [1p36.13/16q23.3]  [t(1;16)(p36;q23)]  
Fusion: TCGAPLA2G2A 1p36.13 MBTPS1 16q23.3 PRAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMBTPS1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MBTPS1
dbVarMBTPS1
ClinVarMBTPS1
1000_GenomesMBTPS1 
Exome Variant ServerMBTPS1
ExAC (Exome Aggregation Consortium)MBTPS1 (select the gene name)
Genetic variants : HAPMAP8720
Genomic Variants (DGV)MBTPS1 [DGVbeta]
DECIPHERMBTPS1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMBTPS1 
Mutations
ICGC Data PortalMBTPS1 
TCGA Data PortalMBTPS1 
Broad Tumor PortalMBTPS1
OASIS PortalMBTPS1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMBTPS1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMBTPS1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)X-chromosome gene database
BioMutasearch MBTPS1
DgiDB (Drug Gene Interaction Database)MBTPS1
DoCM (Curated mutations)MBTPS1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MBTPS1 (select a term)
intoGenMBTPS1
Cancer3DMBTPS1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603355   
Orphanet
MedgenMBTPS1
Genetic Testing Registry MBTPS1
NextProtQ14703 [Medical]
TSGene8720
GENETestsMBTPS1
Target ValidationMBTPS1
Huge Navigator MBTPS1 [HugePedia]
snp3D : Map Gene to Disease8720
BioCentury BCIQMBTPS1
ClinGenMBTPS1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8720
Chemical/Pharm GKB GenePA30671
Clinical trialMBTPS1
Miscellaneous
canSAR (ICR)MBTPS1 (select the gene name)
Probes
Litterature
PubMed48 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMBTPS1
EVEXMBTPS1
GoPubMedMBTPS1
iHOPMBTPS1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:06:28 CEST 2017

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