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MBTPS1 Gene

protein-coding   GIFtS: 64
GCID: GC16M084087

Membrane-Bound Transcription Factor Peptidase, Site 1

(Previous names: membrane-bound transcription factor protease, site 1)
  See MBTPS1-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Membrane-Bound Transcription Factor Peptidase, Site 11 2     Membrane-Bound Transcription Factor Site-1 Protease2
S1P2 3 5     Proprotein Convertase Subtilisin/Kexin Type 82
Endopeptidase S1P2 3     Site-1 Protease2
SKI-12 3     Subtilisin/Kexin Isozyme-12
EC 3.4.21.1123 8     KIAA00913
Membrane-Bound Transcription Factor Protease, Site 11     SKI13
PCSK82     Subtilisin/Kexin-Isozyme 13

External Ids:    HGNC: 154561   Entrez Gene: 87202   Ensembl: ENSG000001409437   OMIM: 6033555   UniProtKB: Q147033   

Export aliases for MBTPS1 gene to outside databases

Previous GC identifers: GC16M074938 GC16M085054 GC16M083826 GC16M083867 GC16M082644 GC16M069841


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MBTPS1 Gene:
This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that
process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory
pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a
heterodimer which exits the ER and sorts to the cis/medial-Golgi where a second autocatalytic event takes place
and the catalytic activity is acquired. It encodes a type 1 membrane bound protease which is ubiquitously
expressed and regulates cholesterol or lipid homeostasis via cleavage of substrates at non-basic residues.
Mutations in this gene may be associated with lysosomal dysfunction. (provided by RefSeq, Feb 2014)

GeneCards Summary for MBTPS1 Gene:
MBTPS1 (membrane-bound transcription factor peptidase, site 1) is a protein-coding gene. Diseases associated with MBTPS1 include hypoplastic left heart syndrome. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NC_018927.2  NT_010498.16  
Regulatory elements:
   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 Chromatin IP Primers for MBTPS1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
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: 

  • 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 intermediates1
  • Ubiquitination2 at Lys443, Lys646, Lys951
  • Glycosylation2 at Ser166, Ser168, Thr177, Asn236, Asn305, Asn515, Asn728, Thr896, Asn939
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for MBTPS1 (Q14703) (see all 14)
     LAFFVVQI  KAKSRPKRR  MITVASPAETE  VNVTILNGMGVTGRIVDKP 


    See MBTPS1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003782.1  
    ENSEMBL proteins: 
     ENSP00000344223   ENSP00000457508   ENSP00000457954   ENSP00000456553  
    Reactome Protein details: Q14703

    MBTPS1 Human Recombinant Protein Products:

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    Novus Biologicals MBTPS1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for MBTPS1

     
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    antibodies-online proteins for MBTPS1 (3 products) 

     
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    antibodies-online antibodies for MBTPS1 (7 products) 

    MBTPS1 Assay Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with MBTPS1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004175endopeptidase activity ----
    GO:0004252serine-type endopeptidase activity IMP--
         
    Find genes that share ontologies with MBTPS1           About GenesLikeMe


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

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

    Find genes that share phenotypes with MBTPS1           About GenesLikeMe

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

       genOway: Develop your customized and physiologically relevant rodent model for MBTPS1

    miRNA
    Products:
        
    miRTarBase miRNAs that target MBTPS1:
    hsa-mir-769-3p (MIRT039121), hsa-mir-193b-3p (MIRT041290), hsa-let-7c-5p (MIRT051782)

    Block miRNA regulation of human, mouse, rat MBTPS1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MBTPS1 (see all 19):
    hsa-miR-3164 hsa-miR-520d-5p hsa-miR-106a hsa-miR-9 hsa-miR-2115 hsa-miR-93 hsa-miR-3613-3p hsa-miR-526b*
    SwitchGear 3'UTR luciferase reporter plasmidMBTPS1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for MBTPS1
    Predesigned siRNA for gene silencing in human, mouse, rat MBTPS1

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: MBTPS1 (NM_003791)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MBTPS1

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MBTPS1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MBTP1_HUMAN, Q14703: 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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    golgi apparatus5
    extracellular3
    cytoskeleton2
    nucleus2
    plasma membrane2
    cytosol1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (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--

    Find genes that share ontologies with MBTPS1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for MBTPS1 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    Regulation of Cholesterol Biosynthesis by SREBP (SREBF)0.75
    SREBP signalling0.31
    2Unfolded Protein Response
    Unfolded Protein Response0.61
    Activation of Chaperones by ATF6-alpha0.00
    3Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    4Chks in Checkpoint Regulation
    SREBP Proteolysis0.43
    5Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30


    Find genes that share SuperPaths with MBTPS1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    1 BioSystems Pathway for MBTPS1
        SREBP signalling

    2 Reactome Pathways for MBTPS1
        ATF6-alpha activates chaperones
    Regulation of cholesterol biosynthesis by SREBP (SREBF)


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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MBTPS1: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat
              Unfolded Protein Response in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MBTPS1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    Selected Interacting proteins for MBTPS1 (Q147032, 3 ENSP000003442234) via UniProtKB, MINT, STRING, and/or I2D (see all 30)
    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): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IMP--
    GO:0006629lipid metabolic process IBA--
    GO:0006987activation of signaling protein activity involved in unfolded protein response TAS--
    GO:0007040lysosome organization IMP--
    GO:0008203cholesterol metabolic process IEA--

    Find genes that share ontologies with MBTPS1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MBTPS1 (MBTP1)

    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)



    Find genes that share compounds with MBTPS1           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MBTPS1 gene (2 alternative transcripts): 
    NM_003791.3  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
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate MBTPS1 (see all 19):
    hsa-miR-3164 hsa-miR-520d-5p hsa-miR-106a hsa-miR-9 hsa-miR-2115 hsa-miR-93 hsa-miR-3613-3p hsa-miR-526b*
    SwitchGear 3'UTR luciferase reporter plasmidMBTPS1 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: MBTPS1 (NM_003791)
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      QuantiFast Probe-based Assays in human, mouse, rat MBTPS1

    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 

    Selected AceView cDNA sequences (see all 409):

    F04353 CA489823 BM749985 BQ002489 BQ645116 AA576481 BX470403 BQ575718 
    AI678380 BM829953 CD109028 N64451 AI382814 AU123483 AI032550 T33950 
    CA454678 AL046669 AI936321 BQ228507 H88660 BI870081 AI224536 AI913725 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MBTPS1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 4) fully expand
     
     Limb (Muscoskeletal System)
             Limb Bud
     
     Intermediate Mesoderm (Gastrulation Derivatives)
             Mesonephros
     
     Thyroid (Endocrine System)
     
     Ovary (Reproductive System)
    MBTPS1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MBTPS1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.75890

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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MBTPS1: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat
              Unfolded Protein Response in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Primer
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    In Situ
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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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MBTPS1 gene from Selected 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_019709.41  NP_062683.31 
     1195081565 
    chicken
    (Gallus gallus)
    Aves MBTPS11 membrane-bound transcription factor peptidase, site more 80.7(n)
    92.59(a)
      415704  XM_003641897.2  XP_003641945.1 
    lizard
    (Anolis carolinensis)
    Reptilia MBTPS16
    membrane-bound transcription factor peptidase, sit...
    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
    S1P1
    47(a)3
    57.81(n)1
    55.79(a)1
      78E13
    403991  NM_141080.31  NP_649337.21 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons S1P1 S1P 53.31(n)
    52.6(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)
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      --

    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MBTPS1 (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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MBTPS1
    DNA2.0 Custom Variant and Variant Library Synthesis for MBTPS1

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

    1 disease for MBTPS1:    
    About MalaCards
    hypoplastic left heart syndrome

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

    Find genes that share disorders with MBTPS1           About GenesLikeMe

    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)
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    PubMed articles for MBTPS1 gene, integrated from 10 sources (see all 62):
    (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. (J. Hum. Genet. 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. (Proc. Natl. Acad. Sci. U.S.A. 1999)
    3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 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. (J. Lipid Res. 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. (Genome Res. 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. (J. Biol. Chem. 2000)
    7. Molecular identification of the sterol-regulated luminal protease that cleaves SREBPs and controls lipid composition of animal cells. (PubMed id 9809072)1, 3 Sakai J....Brown M.S. (Mol. Cell 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.... Nomura N. (DNA Res. 1995)
    9. Recombinant expression, purification, and kinetic and inhibitor characterisation of human site-1-protease. (PubMed id 16973377)1, 9 Bodvard K....Knecht W. (Protein Expr. Purif. 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. (J. Biol. Chem. 1999)

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

      Query String
    PubMed
    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)
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    Entrez Gene: 8720 HGNC: 15456 AceView: MBTPS1 Ensembl:ENSG00000140943 euGenes: HUgn8720
    ECgene: MBTPS1 Kegg: 8720 H-InvDB: MBTPS1

    (According to HUGE)
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    HUGE: KIAA0091

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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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