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Mbtps1
Gene Detail
Symbol

Name
ID
Mbtps1
membrane-bound transcription factor peptidase, site 1
MGI:1927235
Synonyms
0610038M03Rik, S1P, site-1 protease, SKI-1, subtilisin/kexin isozyme-1
Feature Type
protein coding gene
Genetic Map
Chromosome 8
67.85 cM, cytoband E1
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr8:119508156-119558761 bp, - strand
From Ensembl annotation of GRCm38

  50606 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:2808  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: MBTPS1
Protein SuperFamily: membrane-bound transcription factor site-1 protease
Gene Tree: Mbtps1

Human
homologs
MBTPS1, membrane-bound transcription factor peptidase, site 1
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 8720
neXtProt AC: NX_Q14703

Human Synonyms: PCSK8, S1P, SKI-1

Human Chr (Location): 16q24; chr16:84053761-84116943 (-)  GRCh38.p2

Mutations,
alleles, and
phenotypes
All mutations/alleles(40) : Chemically induced (ENU)(1) Gene trapped(34) Targeted(5)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Phenotype Images(4)
Interactions
Mbtps1 interacts with 160 markers (Mir7-2, Mir7b, Mir9-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (20 annotations)
Process cholesterol metabolic process, lipid metabolic process, ...
Component endoplasmic reticulum, Golgi apparatus, ...
Function endopeptidase activity, hydrolase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (5 records)
Data Summary: Results (44)    Tissues (43)    Images (7)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 44
cDNA source data(324)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase mbtps1 ; ZFIN mbtps1    NEW 
Molecular
reagents
All nucleic(325) cDNA(325)
Microarray probesets(5)
Other database
links
Ensembl Gene Model ENSMUSG00000031835 (Evidence)
Entrez Gene 56453 (Evidence)
UniGene 206934
DFCI TC1726190, TC1630635, TC1612192, TC1609342, TC1573362, TC1601286
DoTS DT.94307068, DT.99861968, DT.94238876, DT.91584298, DT.97408130, DT.55220585, DT.535360, DT.101738995, DT.101738997
NIA Mouse Gene Index U030312
EC 3.4.21.112
Consensus CDS Project CCDS22707.1
International Mouse Phenotyping Consortium Status Mbtps1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000031835 Ensembl Gene Model | MGI Sequence Detail 50606 C57BL/6J ±  kb
transcript ENSMUST00000098362 Ensembl | MGI Sequence Detail 4370 Not Applicable 
polypeptide ENSMUSP00000095965 Ensembl | MGI Sequence Detail 1052 Not Applicable 

For the selected sequences
All sequences(66) RefSeq(11) UniProt(5)
Polymorphisms
SNPs within 2kb(206 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000209 Peptidase S8/S53 domain
InterPro IPR022398 Peptidase S8, subtilisin, His-active site
InterPro IPR015500 Peptidase S8, subtilisin-related
InterPro IPR023828 Peptidase S8, subtilisin, Ser-active site
Protein Ontology PR:000010229 membrane-bound transcription factor site-1 protease
References
(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:220849 Achilleos A, et al., MBTPS1/SKI-1/S1P proprotein convertase is required for ECM signaling and axial elongation during somitogenesis and vertebral developmentdagger. Hum Mol Genet. 2015 May 15;24(10):2884-98
All references(50)
Other
accession IDs
MGI:1915622, MGI:2142730

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
07/21/2015
MGI 5.22
The Jackson Laboratory