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

Gene ID: 56453, updated on 9-Dec-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, Dec 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

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