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    Mbtps1 membrane-bound transcription factor peptidase, site 1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 89842, updated on 9-Dec-2024

    Summary

    Official Symbol
    Mbtps1provided by RGD
    Official Full Name
    membrane-bound transcription factor peptidase, site 1provided by RGD
    Primary source
    RGD:70935
    See related
    EnsemblRapid:ENSRNOG00000015173 AllianceGenome:RGD:70935
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    S1p; Ski-1
    Summary
    Enables serine-type endopeptidase activity. Predicted to be involved in several processes, including lysosome organization; membrane protein intracellular domain proteolysis; and mitotic G2 DNA damage checkpoint signaling. Predicted to act upstream of or within lipid metabolic process. Predicted to be located in Golgi stack. Predicted to be active in Golgi membrane. 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
    Biased expression in Adrenal (RPKM 281.9), Thymus (RPKM 281.3) and 9 other tissues See more
    Orthologs
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    Genomic context

    See Mbtps1 in Genome Data Viewer
    Location:
    19q12
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 19 NC_086037.1 (64470245..64521438, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 19 NC_051354.1 (47561598..47612769, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 19 NC_005118.4 (52146507..52206310, complement)

    Chromosome 19 - NC_086037.1Genomic Context describing neighboring genes Neighboring gene oxidative stress induced growth inhibitor 1 Neighboring gene N-terminal EF-hand calcium binding protein 2 Neighboring gene solute carrier family 38, member 8 Neighboring gene hydroxysteroid dehydrogenase like 1 Neighboring gene dynein, axonemal, assembly factor 1 Neighboring gene NADH:ubiquinone oxidoreductase subunit A2, pseudogene 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    enables serine-type endopeptidase activity ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in cholesterol metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within lipid metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in lysosome organization IEA
    Inferred from Electronic Annotation
    more info
     
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in membrane protein intracellular domain proteolysis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in mitotic G2 DNA damage checkpoint signaling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitotic G2 DNA damage checkpoint signaling ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein import into nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein maturation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein processing IEA
    Inferred from Electronic Annotation
    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 IEA
    Inferred from Electronic Annotation
    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
     
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in Golgi membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in Golgi stack IEA
    Inferred from Electronic Annotation
    more info
     
    located_in Golgi stack ISO
    Inferred from Sequence Orthology
    more info
     
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    membrane-bound transcription factor site-1 protease
    Names
    S1P endopeptidase
    endopeptidase S1P
    membrane-bound transcription factor protease, site 1
    site-1 protease
    subtilisin/kexin isozyme 1
    NP_446021.2
    XP_008770873.1
    XP_038953977.1
    XP_038953979.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_053569.2NP_446021.2  membrane-bound transcription factor site-1 protease precursor

      Status: PROVISIONAL

      Source sequence(s)
      JAXUCZ010000019
      UniProtKB/Swiss-Prot
      G3V7Z2, Q9WTZ3
      UniProtKB/TrEMBL
      A0A8L2R475
      Related
      ENSRNOP00000020838.4, ENSRNOT00000020838.9
      Conserved Domains (2) summary
      cd07479
      Location:203455
      Peptidases_S8_SKI-1_like; Peptidase S8 family domain in SKI-1-like proteins
      pfam14258
      Location:651724
      DUF4350; Domain of unknown function (DUF4350)

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086037.1 Reference GRCr8

      Range
      64470245..64521438 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039098049.2XP_038953977.1  membrane-bound transcription factor site-1 protease isoform X2

      Conserved Domains (2) summary
      cd07479
      Location:1251
      Peptidases_S8_SKI-1_like; Peptidase S8 family domain in SKI-1-like proteins
      pfam14258
      Location:447520
      DUF4350; Domain of unknown function (DUF4350)
    2. XM_039098051.2XP_038953979.1  membrane-bound transcription factor site-1 protease isoform X3

      Conserved Domains (1) summary
      pfam14258
      Location:133206
      DUF4350; Domain of unknown function (DUF4350)
    3. XM_008772651.4XP_008770873.1  membrane-bound transcription factor site-1 protease isoform X1

      UniProtKB/TrEMBL
      A0A8I5XW81
      Conserved Domains (3) summary
      cd07479
      Location:203455
      Peptidases_S8_SKI-1_like; Peptidase S8 family domain in SKI-1-like proteins
      pfam00082
      Location:209464
      Peptidase_S8; Subtilase family
      pfam14258
      Location:651724
      DUF4350; Domain of unknown function (DUF4350)