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    Mbtps1 membrane-bound transcription factor peptidase, site 1 [ Mus musculus (house mouse) ]

    Gene ID: 56453, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Mbtps1provided by MGI
    Official Full Name
    membrane-bound transcription factor peptidase, site 1provided by MGI
    Primary source
    MGI:MGI:1927235
    See related
    Ensembl:ENSMUSG00000031835 AllianceGenome:MGI:1927235
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    S1P; Ski1; SKI-1; mKIAA0091; 0610038M03Rik
    Summary
    Enables serine-type endopeptidase activity. Involved in membrane protein intracellular domain proteolysis and mitotic G2 DNA damage checkpoint signaling. Acts upstream of or within lipid metabolic process. Located in Golgi stack. Is expressed in several structures, including central nervous system; ectoplacental cone; genitourinary system; and somite. Used to study idiopathic scoliosis. Human ortholog(s) of this gene implicated in spondyloepiphyseal dysplasia Kondo-Fu type. Orthologous to human MBTPS1 (membrane bound transcription factor peptidase, site 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in limb E14.5 (RPKM 47.6), thymus adult (RPKM 43.5) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Mbtps1 in Genome Data Viewer
    Location:
    8 E1; 8 67.85 cM
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (120234890..120285603, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (119508151..119558864, complement)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene N-terminal EF-hand calcium binding protein 2 Neighboring gene predicted gene, 53462 Neighboring gene solute carrier family 38, member 8 Neighboring gene STARR-seq mESC enhancer starr_22850 Neighboring gene STARR-seq mESC enhancer starr_22853 Neighboring gene STARR-positive B cell enhancer mm9_chr8:122082621-122082922 Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:122087691-122087878 Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:122087910-122088232 Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:122093859-122094132 Neighboring gene hydroxysteroid dehydrogenase like 1 Neighboring gene STARR-seq mESC enhancer starr_22854 Neighboring gene STARR-seq mESC enhancer starr_22855 Neighboring gene dynein, axonemal assembly factor 1 Neighboring gene TATA-box binding protein associated factor, RNA polymerase I, C

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Genetic mapping of the gene for SKI-1/S1P protease (locus symbol Mbtps1) to mouse chromosome 8. Tadros H, et al. DNA Seq, 2002 Apr. PMID 12180344
    2. Potential role of proprotein convertase SKI-1 in the mineralization of primary bone. Gorski JP, et al. Cells Tissues Organs, 2009. PMID 18728345, Free PMC Article
    3. Inhibition of proprotein convertase SKI-1 blocks transcription of key extracellular matrix genes regulating osteoblastic mineralization. Gorski JP, et al. J Biol Chem, 2011 Jan 21. PMID 21075843, Free PMC Article
    4. Hypomorphic mutation in the site-1 protease Mbtps1 endows resistance to persistent viral infection in a cell-specific manner. Popkin DL, et al. Cell Host Microbe, 2011 Mar 17. PMID 21402360, Free PMC Article
    5. Site-1 protease is essential to growth plate maintenance and is a critical regulator of chondrocyte hypertrophic differentiation in postnatal mice. Patra D, et al. J Biol Chem, 2011 Aug 19. PMID 21652717, Free PMC Article

    See all (55) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Hepatic glycogenesis antagonizes lipogenesis by blocking S1P via UDPG.
      Title: Hepatic glycogenesis antagonizes lipogenesis by blocking S1P via UDPG.
    2. Site 1 protease aggravates acute kidney injury by promoting tubular epithelial cell ferroptosis through SIRT3-SOD2-mtROS signaling.
      Title: Site 1 protease aggravates acute kidney injury by promoting tubular epithelial cell ferroptosis through SIRT3-SOD2-mtROS signaling.
    3. Site-1 protease inhibits mitochondrial respiration by controlling the TGF-beta target gene Mss51.
      Title: Site-1 protease inhibits mitochondrial respiration by controlling the TGF-β target gene Mss51.
    4. Caspase-11 contributes to site-1 protease cleavage and SREBP1 activation in the inflammatory response of macrophages.
      Title: Caspase-11 contributes to site-1 protease cleavage and SREBP1 activation in the inflammatory response of macrophages.
    5. Site-1 protease ablation in the osterix-lineage in mice results in bone marrow neutrophilia and hematopoietic stem cell alterations.
      Title: Site-1 protease ablation in the osterix-lineage in mice results in bone marrow neutrophilia and hematopoietic stem cell alterations.
    6. Data (including data from studies in knockout mice) suggest osteocyte Mbtps1 expression is involved in development of sarcopenia in slow-twitch muscle fibers; Mbtps1 knockout mice (conditional osteocyte deletion) do not develop sarcopenia of aging.
      Title: Deletion of Mbtps1 (Pcsk8, S1p, Ski-1) Gene in Osteocytes Stimulates Soleus Muscle Regeneration and Increased Size and Contractile Force with Age.
    7. S1P substrate-dependent regulatory mechanisms for lipid synthesis and biogenesis of lysosomes are different
      Title: Site-1 protease-activated formation of lysosomal targeting motifs is independent of the lipogenic transcription control.
    8. A novel role for MBTPS1/SKI-1/S1P (membrane bound transcription factor protease, subtilisin kexin isozyme-1, or site 1 protease) in somite segmentation and in the pathogenesis of vertebral anomalies.
      Title: MBTPS1/SKI-1/S1P proprotein convertase is required for ECM signaling and axial elongation during somitogenesis and vertebral development†.
    9. These studies indicate an indispensable role for S1P in type IIB procollagen trafficking from the ER.
      Title: Cartilage-specific ablation of site-1 protease in mice results in the endoplasmic reticulum entrapment of type IIb procollagen and down-regulation of cholesterol and lipid homeostasis.
    10. Site-1 protease is essential to growth plate maintenance and is a critical regulator of chondrocyte hypertrophic differentiation in postnatal mice.
      Title: Site-1 protease is essential to growth plate maintenance and is a critical regulator of chondrocyte hypertrophic differentiation in postnatal mice.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables metalloendopeptidase activity TAS
    Traceable Author Statement
    more info
    		  
    enables serine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables serine-type endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables serine-type endopeptidase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables serine-type endopeptidase activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in cholesterol metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within lipid metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in lysosome organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in lysosome organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in membrane protein intracellular domain proteolysis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mitotic G2 DNA damage checkpoint signaling IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein maturation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein processing ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein processing ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in proteolysis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in proteolysis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of vesicle-mediated transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of vesicle-mediated transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in Golgi membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in Golgi stack IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    membrane-bound transcription factor site-1 protease
    Names
    S1P endopeptidase
    endopeptidase S1P
    membrane-bound transcription factor protease, site 1
    site-1 protease
    sterol-regulated luminal protease
    subtilisin/kexin isozyme 1
    subtilisin/kexin isozyme SKI-1
    NP_001161382.1
    NP_062683.3
    XP_011246751.1
    XP_011246752.1
    XP_011246753.1
    XP_030099551.1
    XP_030099552.1
    XP_036010086.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001167910.1 → NP_001161382.1  membrane-bound transcription factor site-1 protease precursor

      See identical proteins and their annotated locations for NP_001161382.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK029048, BP766964, BY138840
      Consensus CDS
      CCDS22707.1
      UniProtKB/Swiss-Prot
      Q6PG67, Q9WTZ2
      UniProtKB/TrEMBL
      A3QWY0
      Related
      ENSMUSP00000080117.5, ENSMUST00000081381.6
      Conserved Domains (2) summary
      cd07479
      Location:203 → 455
      Peptidases_S8_SKI-1_like; Peptidase S8 family domain in SKI-1-like proteins
      pfam14258
      Location:651 → 724
      DUF4350; Domain of unknown function (DUF4350)

    2. NM_019709.4 → NP_062683.3  membrane-bound transcription factor site-1 protease precursor

      See identical proteins and their annotated locations for NP_062683.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK029048, BP766964, BY138840, CB518490
      Consensus CDS
      CCDS22707.1
      UniProtKB/Swiss-Prot
      Q6PG67, Q9WTZ2
      UniProtKB/TrEMBL
      A3QWY0
      Related
      ENSMUSP00000095965.4, ENSMUST00000098362.11
      Conserved Domains (2) summary
      cd07479
      Location:203 → 455
      Peptidases_S8_SKI-1_like; Peptidase S8 family domain in SKI-1-like proteins
      pfam14258
      Location:651 → 724
      DUF4350; Domain of unknown function (DUF4350)

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000074.7 Reference GRCm39 C57BL/6J

      Range
      120234890..120285603 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011248449.4 → XP_011246751.1  membrane-bound transcription factor site-1 protease isoform X1

      See identical proteins and their annotated locations for XP_011246751.1

      UniProtKB/Swiss-Prot
      Q6PG67, Q9WTZ2
      UniProtKB/TrEMBL
      A3QWY0
      Conserved Domains (2) summary
      cd07479
      Location:203 → 455
      Peptidases_S8_SKI-1_like; Peptidase S8 family domain in SKI-1-like proteins
      pfam14258
      Location:651 → 724
      DUF4350; Domain of unknown function (DUF4350)

    2. XM_011248450.3 → XP_011246752.1  membrane-bound transcription factor site-1 protease isoform X1

      See identical proteins and their annotated locations for XP_011246752.1

      UniProtKB/Swiss-Prot
      Q6PG67, Q9WTZ2
      UniProtKB/TrEMBL
      A3QWY0
      Conserved Domains (2) summary
      cd07479
      Location:203 → 455
      Peptidases_S8_SKI-1_like; Peptidase S8 family domain in SKI-1-like proteins
      pfam14258
      Location:651 → 724
      DUF4350; Domain of unknown function (DUF4350)

    3. XM_030243691.2 → XP_030099551.1  membrane-bound transcription factor site-1 protease isoform X1

      UniProtKB/Swiss-Prot
      Q6PG67, Q9WTZ2
      UniProtKB/TrEMBL
      A3QWY0
      Conserved Domains (2) summary
      cd07479
      Location:203 → 455
      Peptidases_S8_SKI-1_like; Peptidase S8 family domain in SKI-1-like proteins
      pfam14258
      Location:651 → 724
      DUF4350; Domain of unknown function (DUF4350)

    4. XM_011248451.4 → XP_011246753.1  membrane-bound transcription factor site-1 protease isoform X2

      UniProtKB/TrEMBL
      A3QWY0
      Conserved Domains (2) summary
      cd07479
      Location:203 → 446
      Peptidases_S8_SKI-1_like; Peptidase S8 family domain in SKI-1-like proteins
      pfam14258
      Location:642 → 715
      DUF4350; Domain of unknown function (DUF4350)

    5. XM_030243692.2 → XP_030099552.1  membrane-bound transcription factor site-1 protease isoform X3

      Conserved Domains (1) summary
      pfam14258
      Location:194 → 267
      DUF4350; Domain of unknown function (DUF4350)

    6. XM_036154193.1 → XP_036010086.1  membrane-bound transcription factor site-1 protease isoform X2

      UniProtKB/TrEMBL
      A3QWY0
      Conserved Domains (2) summary
      cd07479
      Location:203 → 446
      Peptidases_S8_SKI-1_like; Peptidase S8 family domain in SKI-1-like proteins
      pfam14258
      Location:642 → 715
      DUF4350; Domain of unknown function (DUF4350)

    RNA

    1. XR_878851.3 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9WTZ2.1 GenPept UniProtKB/Swiss-Prot:Q9WTZ2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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