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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MBTPS1 Gene

protein-coding   GIFtS: 65
GCID: GC16M084087

Membrane-Bound Transcription Factor Peptidase, Site 1

(Previous names: membrane-bound transcription factor protease, site 1)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Membrane-Bound Transcription Factor Peptidase, Site 11 2     Membrane-Bound Transcription Factor Site-1 Protease2
S1P2 3 5     Site-1 Protease2
Endopeptidase S1P2 3     Subtilisin/Kexin Isozyme-12
SKI-12 3     KIAA00913
EC 3.4.21.1123 8     SKI13
Membrane-Bound Transcription Factor Protease, Site 11     Subtilisin/Kexin-Isozyme 13
PCSK82     

External Ids:    HGNC: 154561   Entrez Gene: 87202   Ensembl: ENSG000001409437   OMIM: 6033555   UniProtKB: Q147033   
ORGUL members:         
NONCODE14:n342494      

Export aliases for MBTPS1 gene to outside databases

Previous GC identifers: GC16M074938 GC16M085054 GC16M083826 GC16M083867 GC16M082644 GC16M069841


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MBTPS1 Gene:
The encoded protein has a central role in the regulation of lipid metabolism in cells. It is a sterol-regulated
subtilisin-like serine protease that cleaves ER membrane-bound sterol regulatory element-binding proteins
(SREBPs), a reaction that initiates the two-step proteolytic process by which transcriptionally active fragments
of SREBPs are released from the membrane for translocation to the nucleus. The gene product is an integral
membrane ER protein, with the bulk located in the ER lumen. It is synthesized as an inactive preproprotein that
is self-activated by an intramolecular cleavage that generates the mature protein. (provided by RefSeq, Jul 2008)

GeneCards Summary for MBTPS1 Gene: 
MBTPS1 (membrane-bound transcription factor peptidase, site 1) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with MBTPS1 include lassa fever, and crimean-congo hemorrhagic fever, and among its related super-pathways are Activation of Gene Expression by SREBP (SREBF) and Metabolic pathways. GO annotations related to this gene include serine-type endopeptidase activity.

UniProtKB/Swiss-Prot: MBTP1_HUMAN, Q14703
Function: Catalyzes the first step in the proteolytic activation of the sterol regulatory element-binding proteins
(SREBPs). Other known substrates are BDNF and ATF6. Cleaves after hydrophobic or small residues, provided that
Arg or Lys is in position P4. Cleaves known substrates after Arg-Ser-Val-Leu (SERBP-2), Arg-His-Leu-Leu (ATF6),
Arg-Gly-Leu-Thr (BDNF) and its own propeptide after Arg-Arg-Leu-Leu




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.2  NT_010498.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MBTPS1 gene promoter:
         SRF   SREBP-1a   AP-1   SRF (504 AA)   SREBP-1b   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMBTPS1 promoter sequence
   Search SABiosciences Chromatin IP Primers for MBTPS1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MBTPS1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q24   Ensembl cytogenetic band:  16q23.3   HGNC cytogenetic band: 16q24

MBTPS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MBTPS1 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M084087:  view genomic region     (about GC identifiers)

Start:
84,087,368 bp from pter      End:
84,150,517 bp from pter
Size:
63,150 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MBTP1_HUMAN, Q14703 (See protein sequence)
Recommended Name: Membrane-bound transcription factor site-1 protease precursor  
Size: 1052 amino acids; 117749 Da
Cofactor: Calcium
Subcellular location: Endoplasmic reticulum membrane; Single-pass type I membrane protein. Golgi apparatus
membrane; Single-pass type I membrane protein. Note=May sort to other organelles, including lysosomal and/or
endosomal compartments
Sequence caution: Sequence=BAA07653.2; Type=Erroneous initiation;
Secondary accessions: Q24JQ2 Q9UF67

Explore the universe of human proteins at neXtProt for MBTPS1: NX_Q14703

Explore proteomics data for MBTPS1 at MOPED 

Post-translational modifications:

  • UniProtKB: The 148 kDa zymogen is processed progressively into two membrane-bound 120 and 106 kDa forms in the endoplasmic
    reticulum, and late into a secreted 98 kDa form. The propeptide is autocatalytically removed through an
    intramolecular cleavage after Leu-186. Further cleavage generates 14, 10, and 8 kDa intermediates
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q14703

  • 4/14 DME Specific Peptides for MBTPS1 (Q14703) (see all 14)
     LAFFVVQI  KAKSRPKRR  MITVASPAETE  VNVTILNGMGVTGRIVDKP 

    MBTPS1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MBTPS1 Protein Expression
    REFSEQ proteins: NP_003782.1  
    ENSEMBL proteins: 
     ENSP00000344223   ENSP00000457508   ENSP00000457954   ENSP00000456553  
    Reactome Protein details: Q14703
    Human Recombinant Protein Products for MBTPS1: 
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    Cloud-Clone Corp. Proteins for MBTPS1 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005788endoplasmic reticulum lumen TAS9809072
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0005794Golgi apparatus IBA--
    GO:0005795Golgi stack IEA--

    MBTPS1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR000209 Peptidase_S8/S53_dom
     IPR015500 Peptidase_S8_subtilisin-rel
     IPR022398 Peptidase_S8_His-AS
     IPR023828 Peptidase_S8_Ser-AS

    Graphical View of Domain Structure for InterPro Entry Q14703

    ProtoNet protein and cluster: Q14703

    1 Blocks protein domain: IPB000209 Subtilisin serine protease family (S8) signature

    UniProtKB/Swiss-Prot: MBTP1_HUMAN, Q14703
    Similarity: Belongs to the peptidase S8 family


    MBTPS1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MBTP1_HUMAN, Q14703
    Function: Catalyzes the first step in the proteolytic activation of the sterol regulatory element-binding proteins
    (SREBPs). Other known substrates are BDNF and ATF6. Cleaves after hydrophobic or small residues, provided that
    Arg or Lys is in position P4. Cleaves known substrates after Arg-Ser-Val-Leu (SERBP-2), Arg-His-Leu-Leu (ATF6),
    Arg-Gly-Leu-Thr (BDNF) and its own propeptide after Arg-Arg-Leu-Leu
    Catalytic activity: Processes precursors containing basic and hydrophobic/aliphatic residues at P4 and P2,
    respectively, with a relatively relaxed acceptance of amino acids at P1 and P3
    Enzyme regulation: Inhibited by divalent copper and zinc ions, but not by nickel or cobalt. Inhibited by its
    prosegment, but not smaller fragments thereof
    Induction: Down-regulated by sterols

         Enzyme Number (IUBMB): EC 3.4.21.1121 2

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004175endopeptidase activity ----
    GO:0004252serine-type endopeptidase activity IBA--
         
    MBTPS1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MBTPS1:
     Decreased cilium length after  

         14 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Mbtps1):
     cellular  craniofacial  digestive/alimentary  embryogenesis  growth/size 
     homeostasis/metabolism  immune system  integument  limbs/digits/tail  liver/biliary system 
     mortality/aging  pigmentation  reproductive system  skeleton 

    MBTPS1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Mbtps1tm1.1Jdh for MBTPS1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MBTPS1 
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    SwitchGear 3'UTR luciferase reporter plasmidMBTPS1 3' UTR sequence
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MBTPS1 About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    Regulation of Cholesterol Biosynthesis by SREBP (SREBF)0.67
    SREBP signalling0.37
    2Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    3Activation of Chaperone Genes by XBP1(S)
    Unfolded Protein Response0.76
    4Activation of Chaperone Genes by ATF6-alpha
    Activation of Chaperones by ATF6-alpha0.62
    5Chks in Checkpoint Regulation
    SREBP Proteolysis0.43

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for MBTPS1
        SREBP Proteolysis

    1 BioSystems Pathway for MBTPS1
        SREBP signalling

    5/6        Reactome Pathways for MBTPS1 (see all 6)
        Activation of Chaperones by ATF6-alpha
    Metabolism
    Metabolism of proteins
    Metabolism of lipids and lipoproteins
    Regulation of Cholesterol Biosynthesis by SREBP (SREBF)


    1         Kegg Pathway  (Kegg details for MBTPS1):
        Protein processing in endoplasmic reticulum


    MBTPS1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MBTPS1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    5/28 Interacting proteins for MBTPS1 (Q147032, 3 ENSP000003442234) via UniProtKB, MINT, STRING, and/or I2D (see all 28)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C11orf58O001932, 3MINT-8249817 I2D: score=2 
    C5orf54Q8IZ132, 3MINT-8259340 I2D: score=2 
    CDK2AP2O759562, 3MINT-8251249 I2D: score=2 
    TNFRSF14Q929562, 3MINT-8274533 I2D: score=2 
    TNFSF11O147882, 3MINT-8274709 I2D: score=2 
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IBA--
    GO:0006629lipid metabolic process IBA--
    GO:0006987activation of signaling protein activity involved in unfolded protein response TAS--
    GO:0008203cholesterol metabolic process IEA--
    GO:0030968endoplasmic reticulum unfolded protein response TAS--

    MBTPS1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    MBTPS1 for compounds           About GeneDecksing

    EMD Millipore small molecules for MBTPS1:
    Small Molecule - inhibitor
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    3 HMDB Compounds for MBTPS1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    CobaltCo (see all 6)7440-48-4--
    CopperCu (see all 2)7440-50-8--

    5 Novoseek inferred chemical compound relationships for MBTPS1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    aebsf 72.7 2 15327996 (1)
    sterol 66.4 5 10428864 (2), 18323777 (1), 10944850 (1), 18577702 (1)
    cholesterol 41.5 1 12180344 (1)
    serine 26.6 5 9990022 (2), 16973377 (1), 11351588 (1), 19473327 (1)
    lipid 24.6 5 18951487 (1), 11351588 (1), 12180344 (1), 18577702 (1)

    Search CenterWatch for drugs/clinical trials and news about MBTPS1 / MBTP1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MBTPS1 gene (2 alternative transcripts): 
    NM_003791.2  NM_201268.1  

    Unigene Cluster for MBTPS1:

    Membrane-bound transcription factor peptidase, site 1
    Hs.75890  [show with all ESTs]
    Unigene Representative Sequence: NM_003791
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000562906 ENST00000570064(uc002fhh.3) ENST00000343411(uc002fhi.3)
    ENST00000562886 ENST00000564049 ENST00000561936 ENST00000568051 ENST00000564643
    ENST00000569770 ENST00000563231 ENST00000565863 ENST00000562788 ENST00000570012
    ENST00000569907 ENST00000567557 ENST00000564444
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AK054744.1 AK091212.1 AK291773.1 AK299067.1 AL133583.1 BC026330.1 BC114555.1 BC114961.1 
    D42053.1 

    21 DOTS entries:

    DT.448422  DT.100797970  DT.100797972  DT.100029948  DT.95099555  DT.121643833  DT.40215272  DT.100723358 
    DT.100797973  DT.102831431  DT.120672980  DT.91820224  DT.95099564  DT.100741414  DT.120672975  DT.40132822 
    DT.40220820  DT.91928490  DT.100797975  DT.95099560  DT.99928049 

    24/409 AceView cDNA sequences (see all 409):

    AU123483 BM792735 AW853427 AI032550 T33387 CA489823 AA742462 BX955390 
    BU170125 CD109028 F10747 AA099039 T33950 AL133583 BX472644 BM758632 
    BQ212389 NM_201268 AI811059 BX470403 F03110 CA416357 BU431330 CB153597 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for MBTPS1    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c
    SP1:              -     -                 -                           
    SP2:                                      -                           
    SP3:                                                                  
    SP4:                                                                  


    ECgene alternative splicing isoforms for MBTPS1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MBTPS1 expression in normal human tissues (normalized intensities)      MBTPS1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTTGTAATT
    MBTPS1 Expression
    About this image


    MBTPS1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Limb (Muscoskeletal System)
             Limb Bud
     
     Intermediate Mesoderm (Gastrulation Derivatives)
             Mesonephros

     -- (Reproductive System)
             visceral organ   

    See MBTPS1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MBTPS1

    SOURCE GeneReport for Unigene cluster: Hs.75890

    UniProtKB/Swiss-Prot: MBTP1_HUMAN, Q14703
    Tissue specificity: Widely expressed

        SABiosciences Expression via Pathway-Focused PCR Arrays including MBTPS1: 
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              Unfolded Protein Response in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MBTPS1 gene from 8/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mbtps11 , 5 membrane-bound transcription factor peptidase, site more1, 5 89.07(n)1
    95.82(a)1
      8 (67.85 cM)5
    564531  NM_001167910.11  NP_001161382.11 
     1195081565 
    chicken
    (Gallus gallus)
    Aves MBTPS11 membrane-bound transcription factor peptidase, site more 80.7(n)
    92.59(a)
      415704  XM_003641897.1  XP_003641945.1 
    lizard
    (Anolis carolinensis)
    Reptilia MBTPS16
    Uncharacterized protein
    87(a)
    1 ↔ 1
    5(108365266-108402524)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.18462 Transcribed sequence with moderate similarity to protein more 79.91(n)    AL964484.2 
    zebrafish
    (Danio rerio)
    Actinopterygii mbtps12 membrane-bound transcription factor protease, site more 73.12(n)   326710  AY261515.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta S1P1 , 3 serine-type endopeptidase3
    CG7169-PA1
    47(a)3
    57.6(n)1
    55.67(a)1
      78E13
    403991  NM_141080.21  NP_649337.21 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons S1P1 SITE-1 protease 53.12(n)
    52.22(a)
      832086  NM_121971.2  NP_197467.1 
    rice
    (Oryza sativa)
    Liliopsida Os.190982 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 70.72(n)    AK071415.1 


    ENSEMBL Gene Tree for MBTPS1 (if available)
    TreeFam Gene Tree for MBTPS1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2016 SNPs in MBTPS1 are shown (see all 2016)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs677061041,2
    C--69865689(+) CGGCA-/CTCAC 
    GCACACTG
    CTCAC
    1 -- int10--------
    rs782677131,2
    C--69865697(+) ACGCA-/CACTG 
    CTCACGCA
    ATACC
    1 -- int10--------
    rs30824521,2
    C--69885460(+) TGTGT-/GTGT/GTGT
    GT
    /GTGTGTGT
    TTGTG
    2 -- int1 cds10--------
    rs106904421,2
    C--69886611(+) CAGAG-/AC/CA 
            
    AGAAA
    1 -- int10--------
    rs133388611,2
    C,F--69890846(+) TTATTA/TTTTTT 1 -- int15Minor allele frequency- T:0.28NA WA CSA 128
    rs586101171,2
    C--69890846(+) TTATT-/ATTTTT 1 -- int10--------
    rs1410978161,2
    C--69891818(+) GCTTT-/TTGTTGTT 1 -- cds10--------
    rs721126841,2
    C--69891819(+) CTTTT-/TTGTGTTG 1 -- cds10--------
    rs111496271,2
    C,A,H--69900261(+) aaaaaA/Caaaaa 1 -- int14Minor allele frequency- C:0.00NA CSA 9
    rs113181891,2
    C--84089285(+) GGACG-/TTAATA 1 -- int11Minor allele frequency- T:0.00NA 2

    HapMap Linkage Disequilibrium report for MBTPS1 (84087368 - 84150517 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for MBTPS1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv1909CNV Loss18451855
    nsv833309CNV Loss17160897
    dgv2931n71CNV Loss21882294
    nsv907040CNV Loss21882294
    dgv2929n71CNV Gain21882294
    nsv907059CNV Gain21882294
    nsv907060CNV Gain21882294
    nsv457595CNV Gain19166990
    dgv2930n71CNV Gain21882294
    dgv2932n71CNV Gain21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603355    OMIM disorders: --

    6 diseases for MBTPS1:    About MalaCards
    lassa fever    crimean-congo hemorrhagic fever    lymphocytic choriomeningitis    mucolipidosis
    hemorrhagic fever    neuronitis

    4 diseases from the University of Copenhagen DISEASES database for MBTPS1:
    Multiple sclerosis     Lymphopenia     Hypoplastic left heart syndrome     Atherosclerosis

    MBTPS1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): MBTPS1
    Human Genome Epidemiology (HuGE) Navigator: MBTPS1 (5 documents)

    Export disorders for MBTPS1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MBTPS1 gene, integrated from 9 sources (see all 55):
    (articles sorted by number of sources associating them with MBTPS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genomic structure and chromosomal mapping of the human site-1 protease (S1P) gene. (PubMed id 10944850)1, 2, 3, 9 Nakajima T....Emi M. (2000)
    2. Mammalian subtilisin/kexin isozyme SKI-1: a widely expressed proprotein convertase with a unique cleavage specificity and cellular localization. (PubMed id 9990022)1, 2, 9 Seidah N.G.... Marcinkiewicz M. (1999)
    3. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    4. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PubMed id 18660489)1, 4 Lu Y....Boer J.M. (2008)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. Biosynthesis and enzymatic characterization of human SKI-1/S1P and the processing of its inhibitory prosegment. (PubMed id 10644685)1, 2 Toure B.B.... Seidah N.G. (2000)
    7. Molecular identification of the sterol-regulated lumi nal protease that cleaves SREBPs and controls lipid composition of animal cells . (PubMed id 9809072)1, 3 Sakai J....Brown M.S. (1998)
    8. Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1. (PubMed id 7788527)1, 2 Nagase T....Kotani H. (1995)
    9. Recombinant expression, purification, and kinetic and inhibitor characterisation of human site-1-protease. (PubMed id 16973377)1, 9 Bodvard K....Knecht W. (2007)
    10. Autocatalytic processing of site-1 protease removes propeptide and permits cleavage of sterol regulatory element-binding proteins. (PubMed id 10428864)1, 9 Espenshade P.J....Brown M.S. (1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8720 HGNC: 15456 AceView: MBTPS1 Ensembl:ENSG00000140943 euGenes: HUgn8720
    ECgene: MBTPS1 Kegg: 8720 H-InvDB: MBTPS1

    (According to HUGE)
    About This Section
    HUGE: KIAA0091

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MBTPS1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MBTPS1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MBTPS1 gene:
    Search GeneIP for patents involving MBTPS1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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