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Mbtps1 Gene Detail
Summary
  • Symbol
    Mbtps1
  • Name
    membrane-bound transcription factor peptidase, site 1
  • Synonyms
    0610038M03Rik, S1P, site-1 protease, SKI-1, subtilisin/kexin isozyme-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1927235
    NCBI Gene: 56453
  • Gene Overview
    MyGene.info: MBTPS1
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr8:119508156-119558735 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      50580 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 67.85 cM, cytoband E1
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    MBTPS1, membrane bound transcription factor peptidase, site 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    MBTPS1, membrane bound transcription factor peptidase, site 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    PCSK8, S1P, SKI-1
  • Links
    NCBI Gene ID: 8720
    neXtProt AC: NX_Q14703
    UniProt: Q14703

  • Chr Location
    16q23.3-q24.1; chr16:84053761-84116943 (-)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    41 phenotypes from 4 alleles in 5 genetic backgrounds
    4 images
    20 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for a gene trap allele die prior to implantation. Mice homozygous for an ENU-induced allele exhibit hypopigmentation, reduced female fertility, altered lipid homeostasis, and increased susceptibility to induced colitis.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000061639 VEGA Gene Model | MGI Sequence Detail 50580 C57BL/6J ±  kb
    transcript OTTMUST00000150389 VEGA | MGI Sequence Detail 4336 Not Applicable  
    polypeptide OTTMUSP00000077969 VEGA | MGI Sequence Detail 1052 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      205 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 326
      cDNA 326

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:1915622, MGI:2142730
    References
    more
    • Summaries
      All 52
      Developmental Gene Expression 6
      Gene Ontology 6
      Phenotypes 20
    • Earliest
      J:53067 Seidah NG, et al., Mammalian subtilisin/kexin isozyme SKI-1: A widely expressed proprotein convertase with a unique cleavage specificity and cellular localization. Proc Natl Acad Sci U S A. 1999 Feb 16;96(4):1321-6
    • Latest
      J:258274 Patra D, et al., Site-1 protease regulates skeletal stem cell population and osteogenic differentiation in mice. Biol Open. 2018 Feb 22;7(2)

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    09/11/2018
    MGI 6.12
    The Jackson Laboratory