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    MBTPS1 membrane bound transcription factor peptidase, site 1 [ Homo sapiens (human) ]

    Gene ID: 8720, updated on 3-Jan-2016
    Official Symbol
    MBTPS1provided by HGNC
    Official Full Name
    membrane bound transcription factor peptidase, site 1provided by HGNC
    Primary source
    HGNC:HGNC:15456
    See related
    Ensembl:ENSG00000140943; HPRD:04522; MIM:603355; Vega:OTTHUMG00000137639
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    S1P; PCSK8; SKI-1
    Summary
    This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to the cis/medial-Golgi where a second autocatalytic event takes place and the catalytic activity is acquired. It encodes a type 1 membrane bound protease which is ubiquitously expressed and regulates cholesterol or lipid homeostasis via cleavage of substrates at non-basic residues. Mutations in this gene may be associated with lysosomal dysfunction. [provided by RefSeq, Feb 2014]
    Orthologs
    See MBTPS1 in Epigenomics, MapViewer
    Location:
    16q24
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 16 NC_000016.10 (84053761..84116943, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (84087368..84150517, complement)

    Chromosome 16 - NC_000016.10Genomic 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 RNA, 5S ribosomal pseudogene 432 Neighboring gene uncharacterized LOC729887 Neighboring gene polo-like kinase 1 (Drosophila) pseudogene Neighboring gene hydroxysteroid dehydrogenase like 1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • ATF6-alpha activates chaperones, organism-specific biosystem (from REACTOME)
      ATF6-alpha activates chaperones, organism-specific biosystemATF6-alpha is a transmembrane protein that normally resides in the Endoplasmic Reticulum (ER) membrane. Here its luminal C-terminal domain is associated with BiP, shielding 2 Golgi-targeting regions ...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
      Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Protein processing in endoplasmic reticulum, organism-specific biosystem (from KEGG)
      Protein processing in endoplasmic reticulum, organism-specific biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...
    • Protein processing in endoplasmic reticulum, conserved biosystem (from KEGG)
      Protein processing in endoplasmic reticulum, conserved biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...
    • Regulation of cholesterol biosynthesis by SREBP (SREBF), organism-specific biosystem (from REACTOME)
      Regulation of cholesterol biosynthesis by SREBP (SREBF), organism-specific biosystemSterol regulatory element binding proteins (SREBPs, SREBFs) respond to low cholesterol concentrations by transiting to the nucleus and activating genes involved in cholesterol and lipid biosynthesis ...
    • SREBP signalling, organism-specific biosystem (from WikiPathways)
      SREBP signalling, organism-specific biosystemSterol regulatory element-binding proteins (SREBPs) are membrane-bound proteins that act as transcription factors. They regulate lipid, especially cholesterol, biosynthesis and uptake at a transcript...
    • Unfolded Protein Response (UPR), organism-specific biosystem (from REACTOME)
      Unfolded Protein Response (UPR), organism-specific biosystemThe Unfolded Protein Response (UPR) is a regulatory system that protects the Endoplasmic Reticulum (ER) from overload. The UPR is provoked by the accumulation of improperly folded protein in the ER d...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • KIAA0091, MGC138711, MGC138712

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    serine-type endopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    ATF6-mediated unfolded protein response TAS
    Traceable Author Statement
    more info
    PubMed 
    cellular protein metabolic process TAS
    Traceable Author Statement
    more info
     
    cholesterol metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum unfolded protein response TAS
    Traceable Author Statement
    more info
     
    lysosome organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    membrane protein intracellular domain proteolysis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    proteolysis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of transcription factor import into nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    response to endoplasmic reticulum stress ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    Golgi membrane TAS
    Traceable Author Statement
    more info
     
    Golgi stack IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
    PubMed 
    endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    membrane-bound transcription factor site-1 protease
    Names
    endopeptidase S1P
    membrane-bound transcription factor peptidase, site 1
    proprotein convertase subtilisin/kexin type 8
    site-1 protease
    subtilisin/kexin isozyme-1
    NP_003782.1

    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.

    Genomic

    1. NG_033017.1 RefSeqGene

      Range
      4970..68152
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003791.3NP_003782.1  membrane-bound transcription factor site-1 protease preproprotein

      See identical proteins and their annotated locations for NP_003782.1

      Status: REVIEWED

      Source sequence(s)
      BC114555, BM680126, BP364386, D42053
      Consensus CDS
      CCDS10941.1
      UniProtKB/Swiss-Prot
      Q14703
      Related
      ENSP00000344223, OTTHUMP00000174991, ENST00000343411, OTTHUMT00000269080
      Conserved Domains (3) summary
      cd07479
      Location:203455
      Peptidases_S8_SKI-1_like; Peptidase S8 family domain in SKI-1-like proteins
      pfam00082
      Location:214466
      Peptidase_S8; Subtilase family
      pfam14258
      Location:651724
      DUF4350; Domain of unknown function (DUF4350)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p2 Primary Assembly

      Range
      84053761..84116943 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018927.2 Alternate CHM1_1.1

      Range
      85498379..85561933 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_201268.1: Suppressed sequence

      Description
      NM_201268.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.