Identity
HGNC
LOCATION
16q23.3
LOCUSID
ALIAS
PCSK8,S1P,SEDKF,SKI-1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 8720
MIM: 603355
HGNC: 15456
Ensembl: ENSG00000140943
Variants:
dbSNP: 8720
ClinVar: 8720
TCGA: ENSG00000140943
COSMIC: MBTPS1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38200582 | 2024 | Targeting the SphK1/S1P/PFKFB3 axis suppresses hepatocellular carcinoma progression by disrupting glycolytic energy supply that drives tumor angiogenesis. | 0 |
| 38247876 | 2024 | The Inhibition of the Membrane-Bound Transcription Factor Site-1 Protease (MBTP1) Alleviates the p.Phe508del-Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Defects in Cystic Fibrosis Cells. | 0 |
| 38359126 | 2024 | Hepatic glycogenesis antagonizes lipogenesis by blocking S1P via UDPG. | 1 |
| 38200582 | 2024 | Targeting the SphK1/S1P/PFKFB3 axis suppresses hepatocellular carcinoma progression by disrupting glycolytic energy supply that drives tumor angiogenesis. | 0 |
| 38247876 | 2024 | The Inhibition of the Membrane-Bound Transcription Factor Site-1 Protease (MBTP1) Alleviates the p.Phe508del-Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Defects in Cystic Fibrosis Cells. | 0 |
| 38359126 | 2024 | Hepatic glycogenesis antagonizes lipogenesis by blocking S1P via UDPG. | 1 |
| 36503164 | 2023 | Sphingosine 1-phosphate alleviates radiation-induced ferroptosis in ovarian granulosa cells by upregulating glutathione peroxidase 4. | 5 |
| 37358015 | 2023 | Enhancing Spns2/S1P in macrophages alleviates hyperinflammation and prevents immunosuppression in sepsis. | 5 |
| 36503164 | 2023 | Sphingosine 1-phosphate alleviates radiation-induced ferroptosis in ovarian granulosa cells by upregulating glutathione peroxidase 4. | 5 |
| 37358015 | 2023 | Enhancing Spns2/S1P in macrophages alleviates hyperinflammation and prevents immunosuppression in sepsis. | 5 |
| 36543771 | 2022 | Targeting SPHK1/S1PR3-regulated S-1-P metabolic disorder triggers autophagic cell death in pulmonary lymphangiomyomatosis (LAM). | 1 |
| 36543771 | 2022 | Targeting SPHK1/S1PR3-regulated S-1-P metabolic disorder triggers autophagic cell death in pulmonary lymphangiomyomatosis (LAM). | 1 |
| 34349020 | 2021 | Proteolytic processing of secretory pathway kinase Fam20C by site-1 protease promotes biomineralization. | 7 |
| 34349020 | 2021 | Proteolytic processing of secretory pathway kinase Fam20C by site-1 protease promotes biomineralization. | 7 |
| 32420688 | 2020 | Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1. | 8 |
Citation
Dessen P
MBTPS1 (membrane bound transcription factor peptidase, site 1)
Atlas Genet Cytogenet Oncol Haematol. 2003-06-01
Online version: http://atlasgeneticsoncology.org/gene/41313/mbtps1-(membrane-bound-transcription-factor-peptidase-site-1)
