Mbtps1 membrane-bound transcription factor peptidase, site 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mbtps1provided by MGI
Official Full Name: membrane-bound transcription factor peptidase, site 1provided by MGI
Primary source: MGI:MGI:1927235
See related: Ensembl:ENSMUSG00000031835 AllianceGenome:MGI:1927235
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: S1P; Ski1; SKI-1; mKIAA0091; 0610038M03Rik
Summary: Enables serine-type endopeptidase activity. Acts upstream of or within lipid metabolic process and protein import into nucleus. Located in Golgi stack. Is expressed in genitourinary system. 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: Ubiquitous expression in limb E14.5 (RPKM 47.6), thymus adult (RPKM 43.5) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 E1; 8 67.85 cM

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (120234890..120285603, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (119508151..119558864, complement)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Site 1 protease aggravates acute kidney injury by promoting tubular epithelial cell ferroptosis through SIRT3-SOD2-mtROS signaling.
Title: Site 1 protease aggravates acute kidney injury by promoting tubular epithelial cell ferroptosis through SIRT3-SOD2-mtROS signaling.
Site-1 protease inhibits mitochondrial respiration by controlling the TGF-beta target gene Mss51.
Title: Site-1 protease inhibits mitochondrial respiration by controlling the TGF-β target gene Mss51.
Caspase-11 contributes to site-1 protease cleavage and SREBP1 activation in the inflammatory response of macrophages.
Title: Caspase-11 contributes to site-1 protease cleavage and SREBP1 activation in the inflammatory response of macrophages.
Site-1 protease ablation in the osterix-lineage in mice results in bone marrow neutrophilia and hematopoietic stem cell alterations.
Title: Site-1 protease ablation in the osterix-lineage in mice results in bone marrow neutrophilia and hematopoietic stem cell alterations.
Data (including data from studies in knockout mice) suggest osteocyte Mbtps1 expression is involved in development of sarcopenia in slow-twitch muscle fibers; Mbtps1 knockout mice (conditional osteocyte deletion) do not develop sarcopenia of aging.
Title: Deletion of Mbtps1 (Pcsk8, S1p, Ski-1) Gene in Osteocytes Stimulates Soleus Muscle Regeneration and Increased Size and Contractile Force with Age.
S1P substrate-dependent regulatory mechanisms for lipid synthesis and biogenesis of lysosomes are different
Title: Site-1 protease-activated formation of lysosomal targeting motifs is independent of the lipogenic transcription control.
A novel role for MBTPS1/SKI-1/S1P (membrane bound transcription factor protease, subtilisin kexin isozyme-1, or site 1 protease) in somite segmentation and in the pathogenesis of vertebral anomalies.
Title: MBTPS1/SKI-1/S1P proprotein convertase is required for ECM signaling and axial elongation during somitogenesis and vertebral development†.
These studies indicate an indispensable role for S1P in type IIB procollagen trafficking from the ER.
Title: Cartilage-specific ablation of site-1 protease in mice results in the endoplasmic reticulum entrapment of type IIb procollagen and down-regulation of cholesterol and lipid homeostasis.
Site-1 protease is essential to growth plate maintenance and is a critical regulator of chondrocyte hypertrophic differentiation in postnatal mice.
Title: Site-1 protease is essential to growth plate maintenance and is a critical regulator of chondrocyte hypertrophic differentiation in postnatal mice.
Hypomorphic mutation in the site-1 protease Mbtps1 endows resistance to persistent viral infection in a cell-specific manner
Title: Hypomorphic mutation in the site-1 protease Mbtps1 endows resistance to persistent viral infection in a cell-specific manner.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (2) 1 citation
Targeted (4) 1 citation
Chemically induced (ENU) (2) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC61088P1 (e-PCR)
- UniSTS:273410

UniSTS:225106 (e-PCR)
- UniSTS:225106

D1S3690 (e-PCR)
- UniSTS:474268

AV003995 (e-PCR)
- UniSTS:165603

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables metalloendopeptidase activity	TAS Traceable Author Statement more info
enables peptidase activity	IEA Inferred from Electronic Annotation more info
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	ISO Inferred from Sequence Orthology more info
enables serine-type endopeptidase activity	TAS Traceable Author Statement more info
enables serine-type peptidase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cholesterol metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within lipid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lysosome organization	ISO Inferred from Sequence Orthology more info
involved_in membrane protein intracellular domain proteolysis	IDA Inferred from Direct Assay more info	PubMed
involved_in mitotic G2 DNA damage checkpoint signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in protein maturation	ISO Inferred from Sequence Orthology more info
involved_in protein processing	ISO Inferred from Sequence Orthology more info
involved_in proteolysis	ISO Inferred from Sequence Orthology more info
involved_in regulation of vesicle-mediated transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within steroid metabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
is_active_in Golgi membrane	ISO Inferred from Sequence Orthology more info
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in Golgi stack	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: membrane-bound transcription factor site-1 protease

Names: S1P endopeptidase; endopeptidase S1P; membrane-bound transcription factor protease, site 1; site-1 protease; sterol-regulated luminal protease; subtilisin/kexin isozyme 1; subtilisin/kexin isozyme SKI-1

NP_001161382.1

EC 3.4.21.112

NP_062683.3

EC 3.4.21.112

XP_011246751.1

EC 3.4.21.112

XP_011246752.1

EC 3.4.21.112

XP_011246753.1

EC 3.4.21.112

XP_030099551.1

EC 3.4.21.112

XP_030099552.1

EC 3.4.21.112

XP_036010086.1

EC 3.4.21.112

NCBI Reference Sequences (RefSeq)

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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)

NM_001167910.1 → NP_001161382.1 membrane-bound transcription factor site-1 protease precursor

See identical proteins and their annotated locations for NP_001161382.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.

Source sequence(s)

AK029048, BP766964, BY138840

Consensus CDS

CCDS22707.1

UniProtKB/Swiss-Prot

Q6PG67, Q9WTZ2

UniProtKB/TrEMBL

A3QWY0

Related

ENSMUSP00000080117.5, ENSMUST00000081381.6

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)
NM_019709.4 → NP_062683.3 membrane-bound transcription factor site-1 protease precursor

See identical proteins and their annotated locations for NP_062683.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.

Source sequence(s)

AK029048, BP766964, BY138840, CB518490

Consensus CDS

CCDS22707.1

UniProtKB/Swiss-Prot

Q6PG67, Q9WTZ2

UniProtKB/TrEMBL

A3QWY0

Related

ENSMUSP00000095965.4, ENSMUST00000098362.11

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_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000074.7 Reference GRCm39 C57BL/6J

Range

120234890..120285603 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011248449.4 → XP_011246751.1 membrane-bound transcription factor site-1 protease isoform X1

See identical proteins and their annotated locations for XP_011246751.1

UniProtKB/Swiss-Prot

Q6PG67, Q9WTZ2

UniProtKB/TrEMBL

A3QWY0

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)
XM_011248450.3 → XP_011246752.1 membrane-bound transcription factor site-1 protease isoform X1

See identical proteins and their annotated locations for XP_011246752.1

UniProtKB/Swiss-Prot

Q6PG67, Q9WTZ2

UniProtKB/TrEMBL

A3QWY0

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)
XM_030243691.2 → XP_030099551.1 membrane-bound transcription factor site-1 protease isoform X1

UniProtKB/Swiss-Prot

Q6PG67, Q9WTZ2

UniProtKB/TrEMBL

A3QWY0

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)
XM_011248451.4 → XP_011246753.1 membrane-bound transcription factor site-1 protease isoform X2

UniProtKB/TrEMBL

A3QWY0

Conserved Domains (2) summary

cd07479
Location:203 → 446

Peptidases_S8_SKI-1_like; Peptidase S8 family domain in SKI-1-like proteins

pfam14258
Location:642 → 715

DUF4350; Domain of unknown function (DUF4350)
XM_030243692.2 → XP_030099552.1 membrane-bound transcription factor site-1 protease isoform X3

Conserved Domains (1) summary

pfam14258
Location:194 → 267

DUF4350; Domain of unknown function (DUF4350)
XM_036154193.1 → XP_036010086.1 membrane-bound transcription factor site-1 protease isoform X2

UniProtKB/TrEMBL

A3QWY0

Conserved Domains (2) summary

cd07479
Location:203 → 446

Peptidases_S8_SKI-1_like; Peptidase S8 family domain in SKI-1-like proteins

pfam14258
Location:642 → 715

DUF4350; Domain of unknown function (DUF4350)