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

MBTPS1 Gene

protein-coding   GIFtS: 63
GCID: GC16M084087

membrane-bound transcription factor peptidase, site 1

(Previous names: membrane-bound transcription factor protease, site 1 )
 Explore 6 diseases affiliated with
MBTPS1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for MBTPS1    

Aliases
for MBTPS1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
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 Protease, Site 11
S1P1 2 3 5     Membrane-Bound Transcription Factor Site-1 Protease2
SKI-11 2 3     Site-1 Protease2
PCSK81 2     Subtilisin/Kexin Isozyme-12
KIAA00911 3     SKI13
Endopeptidase S1P2 3     Subtilisin/Kexin-Isozyme 13
EC 3.4.21.1123 8     

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

Export aliases for MBTPS1 gene to outside databases

Previous GC identifers: GC16M074938 GC16M085054 GC16M083826 GC16M083867 GC16M082644 GC16M069841


Summaries
for MBTPS1 gene

(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:
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)

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




Genomic Views
for MBTPS1 gene

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  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 plasmid: MBTPS1 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

Proteins
for MBTPS1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

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
  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_003782.1  
    ENSEMBL proteins: 
     ENSP00000344223   ENSP00000457508   ENSP00000457954   ENSP00000456553  
    Reactome Protein details: Q14703
    Human Recombinant Protein Products: 
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    Novus Biologicals MBTPS1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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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    Uscn Antibodies for MBTPS1
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    Uscn ELISAs and CLIAs for MBTPS1

    Protein Domains /
    Families
    for MBTPS1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    MBTPS1 for domains           About GeneDecksing

    4 InterPro domains/families:
     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 family: IPB000209 Subtilisin serine protease family (S8) signature

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


    Function
    for MBTPS1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
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    8/19 QIAGEN miScript miRNA 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 plasmid: MBTPS1 3' UTR sequence
    Inhib. RNA
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    OriGene shRNA RFP: MBTPS1
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    Gene Editing
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    Clone
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    Cell Line
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    In Situ Assay
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    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


    1 GenomeRNAi human phenotype for MBTPS1:
     Decreased cilium length after  

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


    Pathways & Interactions
    for MBTPS1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    2Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    		Regulation of Cholesterol Biosynthesis by SREBP (SREBF)1.00
    		SREBP signalling0.46
    3Protein processing in endoplasmic reticulum
    		Protein processing in endoplasmic reticulum1.00
    4Activation of Chaperone Genes by XBP1(S)
    		Unfolded Protein Response0.71
    5Activation of Chaperone Genes by ATF6-alpha
    		Activation of Chaperones by ATF6-alpha0.62

    Pathway sources
    See GeneCards unified pathways
    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)

    5/25 Interacting proteins for MBTPS1 (Q147032, 3 ENSP000003442234) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
    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): 5/6 biological process terms (GO ID links to tree view) (see all 6):    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



    Drugs & Compounds
    for MBTPS1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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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    Browse Tocris compounds for MBTPS1

    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 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 

    Transcripts
    for MBTPS1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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

    miRNA
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    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 plasmid: MBTPS1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MBTPS1 (see all 7)
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    Additional cDNA 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):

    CR590684 BX641399 AI811059 AU123483 AK054744 AI476393 CD676566 BQ228507 
    BE675999 D42053 AA411511 AW058197 BM829953 AA576481 BQ776259 AI394397 
    BU431330 BI870081 BQ217956 BP364048 CA454678 CA306412 AA707912 BX955390 

    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

    Expression
    for MBTPS1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTTGTAATT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    MBTPS1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    3 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyCap MesenchymeCap Mesenchyme CellsKidney
    KidneyS-shaped BodyKidney
    Reproductive SystemMesonephrosReproductive System
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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
    for MBTPS1 gene

    (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 8/26 species (see all 26)    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
    		 --
    		 90(a)
    		 1 ↔ 1
    		 5(108366076-108396151)
    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
    for MBTPS1 gene

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

    Genomic Variants
    for MBTPS1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1596 NCBI SNPs in MBTPS1 are shown (see all 1596)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 16 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs105574871,2
    		C--69847427(+) CAAAA-/TTCT  
                TTCTA     		1 -- int10--------
    rs750188461,2
    		C,F--69873177(+) CCCCCC/AAAAAA 1 -- int14Minor allele frequency- A:0.25WA NA 12
    rs21025011,2
    		C,F,A,H,--84086951(-) CCTGCT/ATGTGG 1 -- ds500110Minor allele frequency- A:0.40NA WA EA 372
    rs732430451,2
    		C,--84086982(+) ACAGCG/ACTGGT 1 -- ds50011Minor allele frequency- A:0.50WA 2
    rs1446333641,2
    		--84086985(+) GCGCTC/GGTCAA 1 -- ds50010--------
    rs1157515371,2
    		F,--84087027(+) GAGTTG/TGACGC 1 -- ds50011Minor allele frequency- T:0.03WA 118
    rs1487080831,2
    		--84087030(+) TTGGAC/TGCCAA 1 -- ds50010--------
    rs776664721,2
    		C,F,--84087069(+) GAAAGG/AACATG 1 -- ds50011Minor allele frequency- A:0.04WA 118
    rs20897231,2
    		C,H,--84087088(-) TGGATC/TGGCCT 1 -- ds50014Minor allele frequency- T:0.00NS EA 412
    rs20897221,2
    		C,F,A,H,--84087138(-) CACCCG/ACGTTC 1 -- ds500125Minor allele frequency- A:0.34NS EA NA WA 2770

    HapMap Linkage Disequilibrium report for MBTPS1 (84087368 - 84150517 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for MBTPS1: --

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    Disorders / Diseases
    for MBTPS1 gene

    (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.)
    About This Section
    MBTPS1 for disorders           About GeneDecksing

    OMIM gene information: 603355    OMIM disorders: --

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

    1 disease from the University of Copenhagen DISEASES database for MBTPS1:
    Mucolipidosis
    Human Genome Epidemiology (HuGE) Navigator: MBTPS1 (5 documents)

    Export disorders for MBTPS1 gene to outside databases

    Publications
    for MBTPS1 gene

    (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 52):
    (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. 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)
    4. 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)
    5. 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)
    6. 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)
    7. Recombinant expression, purification, and kinetic and inhibitor characterisation of human site-1-protease. (PubMed id 16973377)1, 9 Bodvard K....Knecht W. (2007)
    8. 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)
    9. Dependence of site-2 protease cleavage of ATF6 on prior site-1 protease digestion is determined by the size of the luminal domain of ATF6. (PubMed id 15299016)1, 9 Shen J. and Prywes R. (2004)
    10. The luminal domain of ATF6 senses endoplasmic reticulum (ER) stress and causes translocation of ATF6 from the ER to the Golgi. (PubMed id 11821395)1, 9 Chen X....Prywes R. (2002)

    External Searches for MBTPS1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    Genome Databases showing MBTPS1 gene

    (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

    Other Databases showing MBTPS1 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA0091

    Specialized Databases showing MBTPS1 gene

    (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

    Intellectual Property
    for MBTPS1 gene

    (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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