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Aliases for MBTPS1 Gene

Aliases for MBTPS1 Gene

  • Membrane Bound Transcription Factor Peptidase, Site 1 2 3 5
  • Endopeptidase S1P 3 4
  • Site-1 Protease 2 3
  • SKI-1 3 4
  • S1P 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
  • Subtilisin Kexin Isozyme 1 2
  • EC 3.4.21.112 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 Regulation of cholesterol biosynthesis by SREBP (SREBF) and Protein processing in endoplasmic reticulum. Gene Ontology (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.

Additional gene information for MBTPS1 Gene

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

Genomics for MBTPS1 Gene

GeneHancer (GH) Regulatory Elements for MBTPS1 Gene

Promoters and enhancers for MBTPS1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J084115 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 666.2 +0.3 273 2.8 HDGF PKNOX1 CLOCK SMAD1 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 MBTPS1 ENSG00000260018 TAF1C HSDL1 DNAAF1 ENSG00000260859 CRISPLD2 ENSG00000274677
GH16J084144 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 675.9 -27.9 -27860 2 PKNOX1 ATF1 FOXA2 ARID4B SIN3A DMAP1 ZNF48 GLIS2 ELK1 ZNF207 MBTPS1 DNAAF1 HSDL1 ENSG00000261243 KLHL36 TAF1C ZDHHC7 ENSG00000260859 GC16M084122
GH16J084116 Enhancer 0.4 ENCODE dbSUPER 650.7 +1.7 1724 0 ENSG00000260018 MBTPS1 ENSG00000274677
GH16J084536 Enhancer 1.2 Ensembl ENCODE 23.8 -420.7 -420650 2.8 HDGF PKNOX1 SMAD1 ATF1 ARNT YY1 NCOA2 TCF12 POLR2B GATA2 TAF1C ENSG00000261243 MBTPS1 COTL1 USP10 TLDC1
GH16J084613 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.7 -499.8 -499803 6.3 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A FEZF1 ZNF143 FOS ZNF263 COTL1 ENSG00000261243 TAF1C KLHL36 ZDHHC7 ENSG00000260300 MBTPS1 TLDC1 ENSG00000260859 ENSG00000261471
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MBTPS1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MBTPS1 gene promoter:
  • AP-1
  • SRF (504 AA)
  • SRF
  • SREBP-1b
  • SREBP-1a

Genomic Locations for MBTPS1 Gene

Genomic Locations for MBTPS1 Gene
chr16:84,053,761-84,116,943
(GRCh38/hg38)
Size:
63,183 bases
Orientation:
Minus strand
chr16:84,087,368-84,150,517
(GRCh37/hg19)
Size:
63,150 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

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 posLast=951951, posLast=646646, and posLast=443443
  • Glycosylation at isoforms=939, posLast=896896, isoforms=728, isoforms=515, isoforms=305, isoforms=236, and posLast=168168
  • Modification sites at PhosphoSitePlus

Other Protein References for MBTPS1 Gene

No data available for DME Specific Peptides for MBTPS1 Gene

Domains & Families for MBTPS1 Gene

Gene Families for MBTPS1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Graphical View of Domain Structure for InterPro Entry

Q14703

UniProtKB/Swiss-Prot:

MBTP1_HUMAN :
  • Belongs to the peptidase S8 family.
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 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 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 Induction:
Down-regulated by sterols.

Enzyme Numbers (IUBMB) for MBTPS1 Gene

Phenotypes From GWAS Catalog for MBTPS1 Gene

Gene Ontology (GO) - Molecular Function for MBTPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004175 endopeptidase activity IEA --
GO:0004222 metalloendopeptidase activity TAS --
GO:0004252 serine-type endopeptidase activity IEA,IMP 21719679
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity IEA --
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:

Animal Model Products

miRNA for MBTPS1 Gene

miRTarBase miRNAs that target MBTPS1

Clone Products

No data available for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MBTPS1 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
plasma membrane 2
extracellular 2
endosome 1

Gene Ontology (GO) - Cellular Components for MBTPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005783 endoplasmic reticulum IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005794 Golgi apparatus IEA --
genes like me logo Genes that share ontologies with MBTPS1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MBTPS1 Gene

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:0006508 proteolysis IMP,IEA 21719679
GO:0006629 lipid metabolic process IEA --
GO:0007040 lysosome organization IMP 21719679
GO:0008202 steroid metabolic process IEA --
GO:0008203 cholesterol metabolic process IEA --
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
Copper Approved, Investigational Pharma 202
calcium Approved Nutra 0
Cobalt Pharma 174

(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

mRNA/cDNA for MBTPS1 Gene

Unigene Clusters for MBTPS1 Gene

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

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for MBTPS1 Gene



Protein tissue co-expression partners for MBTPS1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MBTPS1 Gene:

MBTPS1

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.

Evidence on tissue expression from TISSUES for MBTPS1 Gene

  • Nervous system(4.6)
  • Lymph node(4.3)
  • Spleen(4.3)
  • Blood(4.2)
  • Bone marrow(4.2)
  • Liver(2)
genes like me logo Genes that share expression patterns with MBTPS1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34 33
  • 99.59 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MBTPS1 34
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 90 (a)
OneToMany
-- 34
  • 74 (a)
OneToMany
dog
(Canis familiaris)
Mammalia MBTPS1 34 33
  • 89.61 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mbtps1 16 34 33
  • 89.07 (n)
rat
(Rattus norvegicus)
Mammalia Mbtps1 33
  • 88.91 (n)
cow
(Bos Taurus)
Mammalia MBTPS1 34 33
  • 87.48 (n)
OneToOne
chicken
(Gallus gallus)
Aves MBTPS1 34 33
  • 80.7 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MBTPS1 34
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mbtps1 33
  • 76.39 (n)
Str.1846 33
zebrafish
(Danio rerio)
Actinopterygii mbtps1 34 33 33
  • 74.87 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9362 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012203 33
  • 60.55 (n)
fruit fly
(Drosophila melanogaster)
Insecta S1P 34 35 33
  • 57.81 (n)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons S1P 33
  • 53.31 (n)
rice
(Oryza sativa)
Liliopsida Os06g0163500 33
  • 55.53 (n)
Os.19098 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9345 34
  • 59 (a)
OneToOne
Cin.4607 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4607 33
Species where no ortholog for MBTPS1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MBTPS1: view image

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 Variation AA Info Type
rs1000056151 -- 84,084,041(-) C/A intron_variant
rs1000068018 -- 84,086,630(-) G/A intron_variant
rs1000068969 -- 84,057,376(-) C/T intron_variant
rs1000104133 -- 84,115,055(-) A/T intron_variant
rs1000105009 -- 84,084,247(-) C/T intron_variant

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

Variant ID Type Subtype PubMed ID
dgv546e214 CNV gain 21293372
esv2761930 CNV gain 21179565
esv3639410 CNV loss 21293372
esv3639411 CNV loss 21293372
esv3892924 CNV gain 25118596
esv3892927 CNV gain 25118596
nsv1059227 CNV loss 25217958
nsv1065790 CNV loss 25217958
nsv1909 CNV deletion 18451855
nsv457595 CNV gain 19166990
nsv573421 CNV gain 21841781
nsv833309 CNV loss 17160897
nsv952061 CNV deletion 24416366

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)

Additional Variant Information for MBTPS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MBTPS1

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

Disorders for MBTPS1 Gene

Additional Disease Information for MBTPS1

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

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 (Journal of human genetics 2000) 2 3 4 22 58
  2. Mammalian subtilisin/kexin isozyme SKI-1: A widely expressed proprotein convertase with a unique cleavage specificity and cellular localization. (PMID: 9990022) Seidah NG … Marcinkiewicz M (Proceedings of the National Academy of Sciences of the United States of America 1999) 3 4 22 58
  3. A key enzyme in the biogenesis of lysosomes is a protease that regulates cholesterol metabolism. (PMID: 21719679) Marschner K … Pohl S (Science (New York, N.Y.) 2011) 3 4 58
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  5. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PMID: 18660489) Lu Y … Boer JM (Journal of lipid research 2008) 3 44 58

Products for MBTPS1 Gene

Sources for MBTPS1 Gene

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