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

    Gene ID: 56453, updated on 3-Apr-2018

    Summary

    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 Vega:OTTMUSG00000061639
    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; AV003995; mKIAA0091; 0610038M03Rik
    Expression
    Ubiquitous expression in limb E14.5 (RPKM 47.6), thymus adult (RPKM 43.5) and 28 other tissues See more
    Orthologs

    Genomic context

    See Mbtps1 in Genome Data Viewer
    Location:
    8; 8 E1
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 8 NC_000074.6 (119508151..119558825, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 8 NC_000074.5 (122032051..122082661, complement)

    Chromosome 8 - NC_000074.6Genomic Context describing neighboring genes 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 TATA-box binding protein associated factor, RNA polymerase I, C

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Variation

    Alleles

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

    Pathways from BioSystems

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    peptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    serine-type endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    serine-type endopeptidase activity ISO
    Inferred from Sequence Orthology
    more info
     
    serine-type peptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cholesterol metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    lipid metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    lysosome organization ISO
    Inferred from Sequence Orthology
    more info
     
    protein import into nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    proteolysis ISO
    Inferred from Sequence Orthology
    more info
     
    steroid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
     
    Golgi stack IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    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
    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

    NCBI Reference Sequences (RefSeq)

    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_001167910.1NP_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
      Q9WTZ2
      Related
      ENSMUSP00000080117.4, OTTMUSP00000077970, ENSMUST00000081381.5, OTTMUST00000150391
      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)
    2. NM_019709.4NP_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
      Q9WTZ2
      Related
      ENSMUSP00000095965.3, OTTMUSP00000077969, ENSMUST00000098362.10, OTTMUST00000150389
      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)

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000074.6 Reference GRCm38.p4 C57BL/6J

      Range
      119508151..119558825 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011248449.2XP_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
      Q9WTZ2
      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)
    2. XM_011248450.2XP_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
      Q9WTZ2
      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)
    3. XM_011248451.2XP_011246753.1  membrane-bound transcription factor site-1 protease isoform X2

      Conserved Domains (3) summary
      cd07479
      Location:203446
      Peptidases_S8_SKI-1_like; Peptidase S8 family domain in SKI-1-like proteins
      pfam00082
      Location:209455
      Peptidase_S8; Subtilase family
      pfam14258
      Location:642715
      DUF4350; Domain of unknown function (DUF4350)

    RNA

    1. XR_878851.1 RNA Sequence

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