U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Mbtps1 membrane-bound transcription factor peptidase, site 1 [ Rattus norvegicus (Norway rat) ]

Gene ID: 89842, updated on 25-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
Mbtps1provided by RGD
Official Full Name
membrane-bound transcription factor peptidase, site 1provided by RGD
Primary source
RGD:70935
See related
Ensembl:ENSRNOG00000015173 AllianceGenome:RGD:70935
Gene type
protein coding
RefSeq status
PROVISIONAL
Organism
Rattus norvegicus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as
S1p; Ski-1
Summary
Enables serine-type endopeptidase activity. Predicted to be involved in lysosome organization; proteolysis; and regulation of vesicle-mediated transport. Predicted to act upstream of or within lipid metabolic process and protein import into nucleus. Located in Golgi apparatus. Human ortholog(s) of this gene implicated in spondyloepiphyseal dysplasia Kondo-Fu type. Orthologous to human MBTPS1 (membrane bound transcription factor peptidase, site 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in Adrenal (RPKM 281.9), Thymus (RPKM 281.3) and 9 other tissues See more
Orthologs
human mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
19q12
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCr8 (GCF_036323735.1) 19 NC_086037.1 (64470245..64521438, complement)
RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 19 NC_051354.1 (47561598..47612769, complement)
106 previous assembly Rnor_6.0 (GCF_000001895.5) 19 NC_005118.4 (52146507..52206310, complement)

Chromosome 19 - NC_086037.1Genomic 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 hydroxysteroid dehydrogenase like 1 Neighboring gene dynein, axonemal, assembly factor 1 Neighboring gene NADH:ubiquinone oxidoreductase subunit A2, pseudogene 3

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
  • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
  • BioProject: PRJNA238328
  • Publication: PMID 24510058
  • Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking. Kondo Y, et al. JCI Insight, 2018 Jul 26. PMID 30046013, Free PMC Article
  2. Sphingosine 1-phosphate accelerates wound healing in diabetic mice. Kawanabe T, et al. J Dermatol Sci, 2007 Oct. PMID 17643267
  3. Decreased lipid synthesis in livers of mice with disrupted Site-1 protease gene. Yang J, et al. Proc Natl Acad Sci U S A, 2001 Nov 20. PMID 11717426, Free PMC Article
  4. Molecular Mechanism of the ATF6α/S1P/S2P Signaling Pathway in Hippocampal Neuronal Apoptosis in SPS Rats. Han L, et al. J Mol Neurosci, 2021 Dec. PMID 33738762
  5. A key enzyme in the biogenesis of lysosomes is a protease that regulates cholesterol metabolism. Marschner K, et al. Science, 2011 Jul 1. PMID 21719679

See all (12) citations in PubMed

GeneRIFs: Gene References Into Functions

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by RGD

Function Evidence Code Pubs
enables serine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables serine-type endopeptidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables serine-type endopeptidase activity IEA
Inferred from Electronic Annotation
more info
  
enables serine-type endopeptidase activity ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in cholesterol metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in lipid metabolic process IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within lipid metabolic process ISO
Inferred from Sequence Orthology
more info
  
involved_in lysosome organization IEA
Inferred from Electronic Annotation
more info
  
involved_in lysosome organization ISO
Inferred from Sequence Orthology
more info
  
involved_in lysosome organization ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in membrane protein intracellular domain proteolysis IEA
Inferred from Electronic Annotation
more info
  
involved_in membrane protein intracellular domain proteolysis ISO
Inferred from Sequence Orthology
more info
  
involved_in mitotic G2 DNA damage checkpoint signaling IEA
Inferred from Electronic Annotation
more info
  
involved_in mitotic G2 DNA damage checkpoint signaling ISO
Inferred from Sequence Orthology
more info
  
involved_in protein maturation ISO
Inferred from Sequence Orthology
more info
  
involved_in protein processing IEA
Inferred from Electronic Annotation
more info
  
involved_in protein processing ISO
Inferred from Sequence Orthology
more info
  
involved_in protein processing ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in proteolysis IEA
Inferred from Electronic Annotation
more info
  
involved_in proteolysis ISO
Inferred from Sequence Orthology
more info
  
involved_in proteolysis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of vesicle-mediated transport IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of vesicle-mediated transport ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
  
located_in Golgi membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in Golgi membrane ISO
Inferred from Sequence Orthology
more info
  
located_in Golgi stack IEA
Inferred from Electronic Annotation
more info
  
located_in Golgi stack ISO
Inferred from Sequence Orthology
more info
  
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

Go to the top of the page Help
Preferred Names
membrane-bound transcription factor site-1 protease
Names
S1P endopeptidase
endopeptidase S1P
membrane-bound transcription factor protease, site 1
site-1 protease
subtilisin/kexin isozyme 1
NP_446021.2
XP_008770873.1
XP_038953977.1
XP_038953979.1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_053569.2 → NP_446021.2  membrane-bound transcription factor site-1 protease precursor

    Status: PROVISIONAL

    Source sequence(s)
    JAXUCZ010000019
    UniProtKB/Swiss-Prot
    G3V7Z2, Q9WTZ3
    UniProtKB/TrEMBL
    A0A8L2R475
    Related
    ENSRNOP00000020838.4, ENSRNOT00000020838.8
    Conserved Domains (2) summary
    cd07479
    Location:203 → 455
    Peptidases_S8_SKI-1_like; Peptidase S8 family domain in SKI-1-like proteins
    pfam14258
    Location:651 → 724
    DUF4350; Domain of unknown function (DUF4350)

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

  1. NC_086037.1 Reference GRCr8

    Range
    64470245..64521438 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_039098049.2 → XP_038953977.1  membrane-bound transcription factor site-1 protease isoform X2

    Conserved Domains (2) summary
    cd07479
    Location:1 → 251
    Peptidases_S8_SKI-1_like; Peptidase S8 family domain in SKI-1-like proteins
    pfam14258
    Location:447 → 520
    DUF4350; Domain of unknown function (DUF4350)

  2. XM_039098051.2 → XP_038953979.1  membrane-bound transcription factor site-1 protease isoform X3

    Conserved Domains (1) summary
    pfam14258
    Location:133 → 206
    DUF4350; Domain of unknown function (DUF4350)

  3. XM_008772651.4 → XP_008770873.1  membrane-bound transcription factor site-1 protease isoform X1

    UniProtKB/TrEMBL
    A0A8I5XW81
    Conserved Domains (3) summary
    cd07479
    Location:203 → 455
    Peptidases_S8_SKI-1_like; Peptidase S8 family domain in SKI-1-like proteins
    pfam00082
    Location:209 → 464
    Peptidase_S8; Subtilase family
    pfam14258
    Location:651 → 724
    DUF4350; Domain of unknown function (DUF4350)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9WTZ3.2 GenPept UniProtKB/Swiss-Prot:Q9WTZ3

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous