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Aliases for MBTPS1 Gene

Aliases for MBTPS1 Gene

  • Membrane-Bound Transcription Factor Peptidase, Site 1 2 3
  • S1P 3 4 6
  • Endopeptidase S1P 3 4
  • EC 3.4.21.112 4 64
  • SKI-1 3 4
  • Membrane-Bound Transcription Factor Protease, Site 1 2
  • Membrane-Bound Transcription Factor Site-1 Protease 3
  • Proprotein Convertase Subtilisin/Kexin Type 8 3
  • Subtilisin/Kexin Isozyme-1 3
  • Subtilisin/Kexin-Isozyme 1 4
  • Site-1 Protease 3
  • KIAA0091 4
  • PCSK8 3
  • SKI1 4

External Ids for MBTPS1 Gene

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. Diseases associated with MBTPS1 include hypoplastic left heart syndrome. Among its related pathways are Regulation of Cholesterol Biosynthesis by SREBP (SREBF) and Metabolism. GO annotations related to this gene include serine-type 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

Genomic Location for MBTPS1 Gene

Start:
84,053,761 bp from pter
End:
84,116,912 bp from pter
Size:
63,152 bases
Orientation:
Minus strand

Genomic View for MBTPS1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MBTPS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MBTPS1 Gene

Regulatory Elements 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
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys443, Lys646, and Lys951
  • Glycosylation at Ser166, Ser168, Thr177, Asn236, Asn305, Asn515, Asn728, Thr896, and Asn939

Other Protein References for MBTPS1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for MBTPS1 Gene

UniProtKB/Swiss-Prot:

MBTP1_HUMAN
Domain:
  • Contains 1 peptidase S8 domain.:
    • Q14703
Family:
  • Belongs to the peptidase S8 family.:
    • Q14703
genes like me logo Genes that share domains with MBTPS1: view

No data available for Gene Families for MBTPS1 Gene

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

Gene Ontology (GO) - Molecular Function for MBTPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004175 endopeptidase activity --
GO:0004252 serine-type endopeptidase activity IMP 21719679
genes like me logo Genes that share ontologies with MBTPS1: view
genes like me logo Genes that share phenotypes with MBTPS1: view

Animal Models for MBTPS1 Gene

MGI Knock Outs for MBTPS1:

miRNA for MBTPS1 Gene

miRTarBase miRNAs that target MBTPS1

No data available for Transcription Factor Targeting 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 3
cytoskeleton 2
nucleus 2
plasma membrane 2
cytosol 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MBTPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005788 endoplasmic reticulum lumen TAS 9809072
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005794 Golgi apparatus IBA --
GO:0005795 Golgi stack IEA --
genes like me logo Genes that share ontologies with MBTPS1: view

Pathways for MBTPS1 Gene

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

Pathways by source for MBTPS1 Gene

Gene Ontology (GO) - Biological Process for MBTPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IMP 21719679
GO:0006629 lipid metabolic process IBA --
GO:0006987 activation of signaling protein activity involved in unfolded protein response --
GO:0007040 lysosome organization IMP 21719679
GO:0008203 cholesterol metabolic process IEA --
genes like me logo Genes that share ontologies with MBTPS1: view

Compounds for MBTPS1 Gene

(3) HMDB Compounds for MBTPS1 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
Cobalt
  • Co
7440-48-4
Copper
  • Cu
7440-50-8

(5) Novoseek inferred chemical compound relationships for MBTPS1 Gene

Compound -log(P) Hits PubMed IDs
aebsf 72.7 1
sterol 66.4 5
cholesterol 41.5 1
serine 26.6 5
lipid 24.6 4
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

Integrated Proteomics: protein expression 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 expressions with MBTPS1: view

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
  • 99.59 (n)
  • 99.81 (a)
MBTPS1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MBTPS1 36
  • 87.48 (n)
  • 95.72 (a)
MBTPS1 37
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MBTPS1 36
  • 89.61 (n)
  • 97.15 (a)
MBTPS1 37
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mbtps1 36
  • 89.07 (n)
  • 95.82 (a)
Mbtps1 16
Mbtps1 37
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MBTPS1 37
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 90 (a)
OneToMany
-- 37
  • 74 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Mbtps1 36
  • 88.91 (n)
  • 96.67 (a)
chicken
(Gallus gallus)
Aves MBTPS1 36
  • 80.7 (n)
  • 92.59 (a)
MBTPS1 37
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MBTPS1 37
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mbtps1 36
  • 76.39 (n)
  • 88.31 (a)
Str.1846 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9362 36
zebrafish
(Danio rerio)
Actinopterygii mbtps1 36
  • 74.87 (n)
  • 86.61 (a)
mbtps1 37
  • 83 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012203 36
  • 60.55 (n)
  • 64.53 (a)
fruit fly
(Drosophila melanogaster)
Insecta S1P 36
  • 57.81 (n)
  • 55.79 (a)
S1P 37
  • 47 (a)
OneToOne
S1P 38
  • 47 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons S1P 36
  • 53.31 (n)
  • 52.6 (a)
rice
(Oryza sativa)
Liliopsida Os.19098 36
Os06g0163500 36
  • 55.53 (n)
  • 52.11 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4607 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9345 37
  • 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 MAF
rs11607 -- 84,054,442(-) CGGCA(A/G)CCTGG utr-variant-3-prime
rs868596 -- 84,057,683(+) GCGTC(A/G)ATCTA intron-variant
rs869426 -- 84,087,179(+) GCTGA(C/T)GGGGC intron-variant
rs870584 -- 84,068,530(+) GGCCG(C/G)CTCTG intron-variant
rs883635 -- 84,062,972(-) CAGGC(C/T)TCCTA intron-variant

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

Relevant External Links for MBTPS1 Gene

HapMap Linkage Disequilibrium report
MBTPS1

Disorders for MBTPS1 Gene

Relevant External Links for MBTPS1

Genetic Association Database (GAD)
MBTPS1
Human Genome Epidemiology (HuGE) Navigator
MBTPS1
genes like me logo Genes that share disorders with MBTPS1: view

No data available for UniProtKB/Swiss-Prot 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
  2. Mammalian subtilisin/kexin isozyme SKI-1: a widely expressed proprotein convertase with a unique cleavage specificity and cellular localization. (PMID: 9990022) Seidah N.G. … Marcinkiewicz M. (Proc. Natl. Acad. Sci. U.S.A. 1999) 3 4 23
  3. Autocatalytic processing of site-1 protease removes propeptide and permits cleavage of sterol regulatory element-binding proteins. (PMID: 10428864) Espenshade P.J. … Brown M.S. (J. Biol. Chem. 1999) 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

  • antibodies-online proteins for MBTPS1
  • antibodies-online antibodies for MBTPS1
  • antibodies-online kits for MBTPS1

Sources for MBTPS1 Gene

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