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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
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:120234895-120285474 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 67.85 cM, cytoband E1
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1119 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1927235
 protein coding gene Chr8:120234890-120285603 (-)
129S1/SvImJ MGP_129S1SvImJ_G0034184
 protein coding gene Chr8:122835156-122889010 (-)
A/J MGP_AJ_G0034164
 protein coding gene Chr8:117782313-117832895 (-)
AKR/J MGP_AKRJ_G0034091
 protein coding gene Chr8:121196041-121248994 (-)
BALB/cJ MGP_BALBcJ_G0034158
 protein coding gene Chr8:117983745-118034826 (-)
C3H/HeJ MGP_C3HHeJ_G0033869
 protein coding gene Chr8:121929479-121980019 (-)
C57BL/6NJ MGP_C57BL6NJ_G0034678
 protein coding gene Chr8:126952827-127006099 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0031620
 protein coding gene Chr8:110671111-110725126 (-)
CAST/EiJ MGP_CASTEiJ_G0033196
 protein coding gene Chr8:121870074-121922657 (-)
CBA/J MGP_CBAJ_G0033842
 protein coding gene Chr8:131561263-131616530 (-)
DBA/2J MGP_DBA2J_G0033998
 protein coding gene Chr8:117002692-117053389 (-)
FVB/NJ MGP_FVBNJ_G0033941
 protein coding gene Chr8:116028483-116081077 (-)
LP/J MGP_LPJ_G0034087
 protein coding gene Chr8:122979137-123030491 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0033988
 protein coding gene Chr8:134009603-134063283 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0034696
 protein coding gene Chr8:121349828-121401109 (-)
PWK/PhJ MGP_PWKPhJ_G0032898
 protein coding gene Chr8:116754187-116806287 (-)
SPRET/EiJ MGP_SPRETEiJ_G0032738
 protein coding gene Chr8:120050189-120102789 (-)
WSB/EiJ MGP_WSBEiJ_G0033312
 protein coding gene Chr8:122068169-122121610 (-)



Homology
more
  • Human Ortholog
    MBTPS1, membrane bound transcription factor peptidase, site 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MBTPS1, membrane bound transcription factor peptidase, site 1
  • Synonyms
    PCSK8, S1P, SEDKF, SKI-1
  • Links
    NCBI Gene ID: 8720
    neXtProt AC: NX_Q14703
    UniProt: Q14703

  • Chr Location
    16q23.3-q24.1; chr16:84053761-84116942 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Mbtps1 mouse models; 1 with human MBTPS1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    60 phenotypes from 5 alleles in 7 genetic backgrounds
    4 images
    27 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
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
less
  • All GO Annotations
    23
  • GO References
    11
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    764
  • Tissues
    55
  • cDNA Data
    325
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000031835 Ensembl Gene Model | MGI Sequence Detail 50580 C57BL/6J ±  kb
    transcript ENSMUST00000081381 Ensembl | MGI Sequence Detail 4195 Not Applicable  
    polypeptide ENSMUSP00000080117 Ensembl | MGI Sequence Detail 1052 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 328
      cDNA 326
      Primer pair 1
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:1915622, MGI:2142730
    References
    more
    • Summaries
      All 67
      Developmental Gene Expression 7
      Diseases 1
      Gene Ontology 11
      Phenotypes 27
    • 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:340355 Cheng Y, et al., Caspase-11 contributes to site-1 protease cleavage and SREBP1 activation in the inflammatory response of macrophages. Front Immunol. 2023;14:1009973
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/17/2024
    MGI 6.24     		The Jackson Laboratory