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/me... See more...

Aliases for MBTPS1 Gene

Aliases for MBTPS1 Gene

  • Membrane Bound Transcription Factor Peptidase, Site 1 2 3 5
  • SKI-1 2 3 4
  • S1P 2 3 4
  • Membrane-Bound Transcription Factor Site-1 Protease 3 4
  • Endopeptidase S1P 3 4
  • Site-1 Protease 2 3
  • EC 3.4.21.112 4 51
  • KIAA0091 2 4
  • PCSK8 2 3
  • Membrane-Bound Transcription Factor Protease, Site 1 2
  • Proprotein Convertase Subtilisin/Kexin Type 8 3
  • Subtilisin Kexin Isozyme 1 2
  • Subtilisin/Kexin Isozyme-1 3
  • Subtilisin/Kexin-Isozyme 1 4
  • MBTPS1 5
  • SEDKF 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. Diseases associated with MBTPS1 include Spondyloepiphyseal Dysplasia, Kondo-Fu Type and Crimean-Congo Hemorrhagic Fever. Among its related pathways are Lipoprotein metabolism and Sterol Regulatory Element-Binding Proteins (SREBP) signalling. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity and endopeptidase activity. An important paralog of this gene is TPP2.

UniProtKB/Swiss-Prot Summary 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. Involved in the regulation of M6P-dependent Golgi-to-lysosome trafficking of lysosomal enzymes (PubMed:30046013). It is required for the activation of CREB3L2/BBF2H7, a transcriptional activator of MIA3/TANGO and other genes controlling mega vesicle formation. Therefore, it plays a key role in the regulation of mega vesicle-mediated collagen trafficking (PubMed:30046013).

Additional gene information for MBTPS1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MBTPS1 Gene

Genomics for MBTPS1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MBTPS1 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MBTPS1

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

Genomic Locations for MBTPS1 Gene

Genomic Locations for MBTPS1 Gene
chr16:84,053,761-84,116,942
(GRCh38/hg38)
Size:
63,182 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

Selected DME Specific Peptides for MBTPS1 Gene

Q14703:
  • FPEDGVVITQTFKDQGLEVLKQETAVV
  • PERMEGNHLHRYSKVLEAHLGDPKPRPLPACP
  • HTNFRDMYQHLRSMGYFVEVLGAPFTCFDA
  • SYKPQASLSPSYIDLTECPYMWPYCSQPIYYGGMPT
  • KPDIVTYGAGVRGSGVKGGCRALSGTSVASPVVAGAVTLL
  • KQALIASARRLPGVNMFEQGHGKLDLLRAYQIL
  • FSDWYNTSVMRKVKFYDENTRQWWMPDTGGAN
  • LAFFVVQI
  • KAKSRPKRR
  • PYLPQNGDNIEVAFSYSSVLWPWSGYLAISISVTKKAASW
  • VNVTILNGMGVTGRIVDKP
  • LSWAKPQPLNETAPSNLWKHQKLLSIDLDKVVLPNFRSNR
  • MITVASPAETE
  • TSTVKLPIKVKIIPTPPRSKRVLWDQYHNLRYPPGYFPRD

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.
  • Glycosylation at Asn148, Ser166, Ser168, Thr177, Asn236, Asn305, Asn515, Asn728, Thr896, and Asn939
  • Ubiquitination at Lys443, Lys646, and Lys951
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • MBTP1_HUMAN (1500)

Other Protein References for MBTPS1 Gene

Antibody Products

  • Abcam antibodies for MBTPS1
  • Boster Bio Antibodies for MBTPS1
  • Santa Cruz Biotechnology (SCBT) Antibodies for MBTPS1

Domains & Families for MBTPS1 Gene

Gene Families for MBTPS1 Gene

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

Protein Domains for MBTPS1 Gene

Suggested Antigen Peptide Sequences for MBTPS1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ33893 fis, clone CTONG2007681, highly similar to Membrane-bound transcription factor site 1 protease (EC 3.4.21.-) (A6NMF3_HUMAN)
  • cDNA FLJ58156, highly similar to Membrane-bound transcription factor site 1 protease (EC 3.4.21.-) (B4DR21_HUMAN)
  • Subtilisin/kexin-isozyme 1 (MBTP1_HUMAN)

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. Involved in the regulation of M6P-dependent Golgi-to-lysosome trafficking of lysosomal enzymes (PubMed:30046013). It is required for the activation of CREB3L2/BBF2H7, a transcriptional activator of MIA3/TANGO and other genes controlling mega vesicle formation. Therefore, it plays a key role in the regulation of mega vesicle-mediated collagen trafficking (PubMed:30046013).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=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.; EC=3.4.21.112;.
UniProtKB/Swiss-Prot Induction:
Down-regulated by sterols.
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.

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:0004252 serine-type endopeptidase activity IEA,IMP 21719679
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with MBTPS1: view
genes like me logo Genes that share phenotypes with MBTPS1: view

Human Phenotype Ontology for MBTPS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MBTPS1 Gene

MGI Knock Outs for MBTPS1:

Animal Model Products

CRISPR Products

miRNA for MBTPS1 Gene

miRTarBase miRNAs that target MBTPS1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MBTPS1

No data available for 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 3
extracellular 3
mitochondrion 2
nucleus 2
endosome 2
cytosol 2
lysosome 2
cytoskeleton 1
peroxisome 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 IBA 21873635
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 IEA,IMP 21719679
GO:0006606 protein import into nucleus IEA --
GO:0006629 lipid metabolic process IEA --
GO:0007040 lysosome organization IMP 21719679
GO:0008202 steroid 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
Cobalt Approved, Experimental Pharma 200
Copper Approved, Investigational Pharma 249
Calcium Nutra 6556

(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

2 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MBTPS1

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

Expression for MBTPS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.7)
  • Spleen(4.5)
  • Lymph node(4.5)
  • Bone marrow(4.4)
  • Blood(4.4)
  • Liver(2.9)
  • Kidney(2.8)
  • Intestine(2.8)
  • Lung(2.7)
  • Muscle(2.6)
  • Heart(2.6)
  • Skin(2.5)
  • Pancreas(2.3)
  • Eye(2.3)
  • Thyroid gland(2.2)
  • Adrenal gland(2.2)
  • Stomach(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 30 31
  • 99.59 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MBTPS1 31
  • 95 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 90 (a)
OneToMany
-- 31
  • 74 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia MBTPS1 30 31
  • 89.61 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mbtps1 30 17 31
  • 89.07 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mbtps1 30
  • 88.91 (n)
Cow
(Bos Taurus)
Mammalia MBTPS1 30 31
  • 87.48 (n)
OneToOne
Chicken
(Gallus gallus)
Aves MBTPS1 30 31
  • 80.7 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MBTPS1 31
  • 87 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mbtps1 30
  • 76.39 (n)
Str.1846 30
Zebrafish
(Danio rerio)
Actinopterygii mbtps1 30 31
  • 74.87 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9362 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012203 30
  • 60.55 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta S1P 30 31 32
  • 57.81 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons S1P 30
  • 53.31 (n)
Rice
(Oryza sativa)
Liliopsida Os06g0163500 30
  • 55.53 (n)
Os.19098 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.9345 31
  • 59 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.4607 30
Species where no ortholog for MBTPS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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

Paralogs for MBTPS1 Gene

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

Variants for MBTPS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MBTPS1 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
710100 Benign: not provided 84,059,437(-) A/T INTRON_VARIANT
714714 Benign: not provided 84,095,794(-) C/T MISSENSE_VARIANT
715864 Benign: not provided 84,056,017(-) C/T MISSENSE_VARIANT
764052 Likely Benign: not provided 84,066,532(-) G/A SYNONYMOUS_VARIANT
783743 Benign: not provided 84,101,623(-) T/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for MBTPS1 Gene

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

MalaCards: The human disease database

(14) MalaCards diseases for MBTPS1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spondyloepiphyseal dysplasia, kondo-fu type
  • sedkf
crimean-congo hemorrhagic fever
  • chf congo virus
bolivian hemorrhagic fever
  • machupo hemorrhagic fever
pectus carinatum
  • carinatum deformity of the chest
lassa fever
  • lf
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

MBTP1_HUMAN
  • Spondyloepiphyseal dysplasia, Kondo-Fu type (SEDKF) [MIM:618392]: A disorder characterized by severely retarded growth, spondyloepiphyseal dysplasia, reduced bone mineral density, and markedly elevated plasma levels of various lysosomal enzymes. Additional features include pectus carinatum, kyphosis, a waddling gait, brachydactyly and dysmorphic facial features. SEDKF transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269 PubMed:30046013}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MBTPS1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with MBTPS1: view

No data available for 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 23
  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 23
  3. Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking. (PMID: 30046013) Kondo Y … Xia L (JCI insight 2018) 3 4
  4. 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
  5. 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 41

Products for MBTPS1 Gene

Sources for MBTPS1 Gene