Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MBTPS1 Gene

Aliases for MBTPS1 Gene

  • Membrane Bound Transcription Factor Peptidase, Site 1 2 3 5
  • Subtilisin Kexin Isozyme 1 2 3
  • Endopeptidase S1P 3 4
  • Site-1 Protease 2 3
  • EC 3.4.21.112 4 63
  • SKI-1 3 4
  • S1P 3 4
  • Membrane-Bound Transcription Factor Peptidase, Site 1 3
  • Membrane-Bound Transcription Factor Protease, Site 1 2
  • Proprotein Convertase Subtilisin/Kexin Type 8 3
  • Subtilisin/Kexin Isozyme-1 3
  • Subtilisin/Kexin-Isozyme 1 4
  • KIAA0091 4
  • PCSK8 3
  • SKI1 4

External Ids for MBTPS1 Gene

Previous GeneCards Identifiers for MBTPS1 Gene

  • GC16M074938
  • GC16M085054
  • GC16M083826
  • GC16M083867
  • GC16M082644
  • GC16M084087
  • GC16M069841

Summaries for MBTPS1 Gene

Entrez Gene Summary for MBTPS1 Gene

  • This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to the cis/medial-Golgi where a second autocatalytic event takes place and the catalytic activity is acquired. It encodes a type 1 membrane bound protease which is ubiquitously expressed and regulates cholesterol or lipid homeostasis via cleavage of substrates at non-basic residues. Mutations in this gene may be associated with lysosomal dysfunction. [provided by RefSeq, Feb 2014]

GeneCards Summary for MBTPS1 Gene

MBTPS1 (Membrane Bound Transcription Factor Peptidase, Site 1) is a Protein Coding gene. Among its related pathways are Metabolism and Transport to the Golgi and subsequent modification. GO annotations related to this gene include serine-type endopeptidase activity and endopeptidase activity.

UniProtKB/Swiss-Prot for MBTPS1 Gene

  • Serine protease that catalyzes the first step in the proteolytic activation of the sterol regulatory element-binding proteins (SREBPs). Other known substrates are BDNF, GNPTAB and ATF6. Cleaves after hydrophobic or small residues, provided that Arg or Lys is in position P4. Cleaves known substrates after Arg-Ser-Val-Leu (SERBP-2), Arg-His-Leu-Leu (ATF6), Arg-Gly-Leu-Thr (BDNF) and its own propeptide after Arg-Arg-Leu-Leu. Mediates the protein cleavage of GNPTAB into subunit alpha and beta, thereby participating in biogenesis of lysosomes.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MBTPS1 Gene

Genomics for MBTPS1 Gene

Regulatory Elements for MBTPS1 Gene

Promoters for MBTPS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MBTPS1 on UCSC Golden Path with GeneCards custom track

Genomic Location for MBTPS1 Gene

Chromosome:
16
Start:
84,053,761 bp from pter
End:
84,116,943 bp from pter
Size:
63,183 bases
Orientation:
Minus strand

Genomic View for MBTPS1 Gene

Genes around MBTPS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MBTPS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MBTPS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MBTPS1 Gene

Proteins for MBTPS1 Gene

  • Protein details for MBTPS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14703-MBTP1_HUMAN
    Recommended name:
    Membrane-bound transcription factor site-1 protease
    Protein Accession:
    Q14703
    Secondary Accessions:
    • A8K6V8
    • Q24JQ2
    • Q9UF67

    Protein attributes for MBTPS1 Gene

    Size:
    1052 amino acids
    Molecular mass:
    117749 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA07653.2; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for MBTPS1 Gene

Proteomics data for MBTPS1 Gene at MOPED

Post-translational modifications for MBTPS1 Gene

  • The 148 kDa zymogen is processed progressively into two membrane-bound 120 and 106 kDa forms in the endoplasmic reticulum, and late into a secreted 98 kDa form. The propeptide is autocatalytically removed through an intramolecular cleavage after Leu-186. Further cleavage generates 14, 10, and 8 kDa intermediates.
  • Ubiquitination at Lys 443, Lys 646, and Lys 951
  • Glycosylation at Ser 168, Asn 236, Asn 305, Asn 515, Asn 728, Thr 896, and Asn 939
  • Modification sites at PhosphoSitePlus

Other Protein References for MBTPS1 Gene

Domains & Families for MBTPS1 Gene

Gene Families for MBTPS1 Gene

Graphical View of Domain Structure for InterPro Entry

Q14703

UniProtKB/Swiss-Prot:

MBTP1_HUMAN :
  • Contains 1 peptidase S8 domain.
  • Belongs to the peptidase S8 family.
Domain:
  • Contains 1 peptidase S8 domain.
Family:
  • Belongs to the peptidase S8 family.
genes like me logo Genes that share domains with MBTPS1: view

Function for MBTPS1 Gene

Molecular function for MBTPS1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Processes precursors containing basic and hydrophobic/aliphatic residues at P4 and P2, respectively, with a relatively relaxed acceptance of amino acids at P1 and P3.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by divalent copper and zinc ions, but not by nickel or cobalt. Inhibited by its prosegment, but not smaller fragments thereof.
UniProtKB/Swiss-Prot Function:
Serine protease that catalyzes the first step in the proteolytic activation of the sterol regulatory element-binding proteins (SREBPs). Other known substrates are BDNF, GNPTAB and ATF6. Cleaves after hydrophobic or small residues, provided that Arg or Lys is in position P4. Cleaves known substrates after Arg-Ser-Val-Leu (SERBP-2), Arg-His-Leu-Leu (ATF6), Arg-Gly-Leu-Thr (BDNF) and its own propeptide after Arg-Arg-Leu-Leu. Mediates the protein cleavage of GNPTAB into subunit alpha and beta, thereby participating in biogenesis of lysosomes.
UniProtKB/Swiss-Prot Induction:
Down-regulated by sterols.

Enzyme Numbers (IUBMB) for MBTPS1 Gene

genes like me logo Genes that share phenotypes with MBTPS1: view

Animal Models for MBTPS1 Gene

MGI Knock Outs for MBTPS1:

Animal Model Products

CRISPR Products

miRNA for MBTPS1 Gene

miRTarBase miRNAs that target MBTPS1

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MBTPS1 Gene

Localization for MBTPS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MBTPS1 Gene

Endoplasmic reticulum membrane; Single-pass type I membrane protein. Golgi apparatus membrane; Single-pass type I membrane protein. Note=May sort to other organelles, including lysosomal and/or endosomal compartments.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MBTPS1 Gene COMPARTMENTS Subcellular localization image for MBTPS1 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
extracellular 2
plasma membrane 2
endosome 1

Gene Ontology (GO) - Cellular Components for MBTPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005795 Golgi stack IEA --
genes like me logo Genes that share ontologies with MBTPS1: view

Pathways & Interactions for MBTPS1 Gene

genes like me logo Genes that share pathways with MBTPS1: view

Pathways by source for MBTPS1 Gene

SIGNOR curated interactions for MBTPS1 Gene

Activates:

Gene Ontology (GO) - Biological Process for MBTPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0031293 membrane protein intracellular domain proteolysis ISS --
GO:0034976 response to endoplasmic reticulum stress ISS --
GO:0036500 ATF6-mediated unfolded protein response TAS 22934019
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with MBTPS1: view

Drugs & Compounds for MBTPS1 Gene

(5) Drugs for MBTPS1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cobalt Pharma 155
Copper Pharma 158
calcium Nutra 0

(3) Additional Compounds for MBTPS1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MBTPS1: view

Transcripts for MBTPS1 Gene

Unigene Clusters for MBTPS1 Gene

Membrane-bound transcription factor peptidase, site 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MBTPS1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c
SP1: - - -
SP2: -
SP3:
SP4:

Relevant External Links for MBTPS1 Gene

GeneLoc Exon Structure for
MBTPS1
ECgene alternative splicing isoforms for
MBTPS1

Expression for MBTPS1 Gene

mRNA expression in normal human tissues for MBTPS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MBTPS1 Gene

This gene is overexpressed in Urine (57.5) and Plasma (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MBTPS1 Gene



SOURCE GeneReport for Unigene cluster for MBTPS1 Gene Hs.75890

mRNA Expression by UniProt/SwissProt for MBTPS1 Gene

Q14703-MBTP1_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with MBTPS1: view

Protein tissue co-expression partners for MBTPS1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for MBTPS1 Gene

Orthologs for MBTPS1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MBTPS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MBTPS1 36
  • 100 (a)
OneToOne
MBTPS1 35
  • 99.59 (n)
  • 99.81 (a)
cow
(Bos Taurus)
Mammalia MBTPS1 35
  • 87.48 (n)
  • 95.72 (a)
MBTPS1 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MBTPS1 36
  • 97 (a)
OneToOne
MBTPS1 35
  • 89.61 (n)
  • 97.15 (a)
mouse
(Mus musculus)
Mammalia Mbtps1 16
Mbtps1 36
  • 96 (a)
OneToOne
Mbtps1 35
  • 89.07 (n)
  • 95.82 (a)
oppossum
(Monodelphis domestica)
Mammalia MBTPS1 36
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 90 (a)
OneToMany
-- 36
  • 74 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Mbtps1 35
  • 88.91 (n)
  • 96.67 (a)
chicken
(Gallus gallus)
Aves MBTPS1 35
  • 80.7 (n)
  • 92.59 (a)
MBTPS1 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MBTPS1 36
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mbtps1 35
  • 76.39 (n)
  • 88.31 (a)
Str.1846 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9362 35
zebrafish
(Danio rerio)
Actinopterygii mbtps1 35
  • 74.87 (n)
  • 86.61 (a)
mbtps1 36
  • 83 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012203 35
  • 60.55 (n)
  • 64.53 (a)
fruit fly
(Drosophila melanogaster)
Insecta S1P 35
  • 57.81 (n)
  • 55.79 (a)
S1P 37
  • 47 (a)
S1P 36
  • 47 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons S1P 35
  • 53.31 (n)
  • 52.6 (a)
rice
(Oryza sativa)
Liliopsida Os.19098 35
Os06g0163500 35
  • 55.53 (n)
  • 52.11 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4607 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9345 36
  • 59 (a)
OneToOne
Species with no ortholog for MBTPS1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MBTPS1 Gene

ENSEMBL:
Gene Tree for MBTPS1 (if available)
TreeFam:
Gene Tree for MBTPS1 (if available)

Paralogs for MBTPS1 Gene

No data available for Paralogs for MBTPS1 Gene

Variants for MBTPS1 Gene

Sequence variations from dbSNP and Humsavar for MBTPS1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs34701895 - 84,101,767(-) CAACA(C/T)CTGGC reference, missense
rs34076105 - 84,099,206(+) TACCT(A/C/G)GAAAC reference, missense, stop-gained
rs11607 -- 84,054,442(-) CGGCA(A/C/G)CCTGG utr-variant-3-prime
rs907045 -- 84,101,888(+) TTACT(A/G)ATCAG utr-variant-5-prime
rs1049884 -- 84,101,848(-) CACTT(A/C/T)TAATC utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for MBTPS1 Gene

Variant ID Type Subtype PubMed ID
nsv907040 CNV Loss 21882294
dgv2929n71 CNV Gain 21882294
dgv2930n71 CNV Gain 21882294
nsv457595 CNV Gain 19166990
dgv2931n71 CNV Loss 21882294
nsv1909 CNV Loss 18451855
dgv2932n71 CNV Gain 21882294
nsv907059 CNV Gain 21882294
nsv907060 CNV Gain 21882294
nsv833309 CNV Loss 17160897

Variation tolerance for MBTPS1 Gene

Residual Variation Intolerance Score: 3.74% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.20; 52.18% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MBTPS1 Gene

HapMap Linkage Disequilibrium report
MBTPS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MBTPS1 Gene

Disorders for MBTPS1 Gene

Relevant External Links for MBTPS1

Genetic Association Database (GAD)
MBTPS1
Human Genome Epidemiology (HuGE) Navigator
MBTPS1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MBTPS1

No disorders were found for MBTPS1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MBTPS1 Gene

Publications for MBTPS1 Gene

  1. Genomic structure and chromosomal mapping of the human site-1 protease (S1P) gene. (PMID: 10944850) Nakajima T. … Emi M. (J. Hum. Genet. 2000) 2 3 4 23 67
  2. Recombinant expression, purification, and kinetic and inhibitor characterisation of human site-1-protease. (PMID: 16973377) Bodvard K. … Knecht W. (Protein Expr. Purif. 2007) 3 23
  3. Dependence of site-2 protease cleavage of ATF6 on prior site-1 protease digestion is determined by the size of the luminal domain of ATF6. (PMID: 15299016) Shen J. … Prywes R. (J. Biol. Chem. 2004) 3 23
  4. Biosynthesis and cellular trafficking of the convertase SKI-1/S1P: ectodomain shedding requires SKI-1 activity. (PMID: 11756446) Elagoz A. … Seidah N.G. (J. Biol. Chem. 2002) 3 23
  5. The luminal domain of ATF6 senses endoplasmic reticulum (ER) stress and causes translocation of ATF6 from the ER to the Golgi. (PMID: 11821395) Chen X. … Prywes R. (J. Biol. Chem. 2002) 3 23

Products for MBTPS1 Gene

Sources for MBTPS1 Gene

Back to Top

Content