MBTPS2
Gene Information
- Official Symbol: MBTPS2
- Official Name: membrane bound transcription factor peptidase, site 2
- Aliases and Previous Symbols: N/A
- Entrez ID: 51360
- UniProt: O43462
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez Summary: This gene encodes a intramembrane zinc metalloprotease, which is essential in development. This protease functions in the signal protein activation involved in sterol control of transcription and the ER stress response. Mutations in this gene have been associated with ichthyosis follicularis with atrichia and photophobia (IFAP syndrome); IFAP syndrome has been quantitatively linked to a reduction in cholesterol homeostasis and ER stress response.[provided by RefSeq, Aug 2009].
- UniProt Summary: Intramembrane proteolysis of sterol-regulatory element- binding proteins (SREBPs) within the first transmembrane segment thereby releasing the N-terminal segment with a portion of the transmembrane segment attached. Site-2 cleavage comes after site-1 cleavage which takes place in the lumenal loop.
Pfam Domains GO Terms
Pfam Domains
| Peptidase M50 |
GO Terms
| ATF6-mediated unfolded protein response |
| positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress |
| bone maturation |
| membrane protein intracellular domain proteolysis |
| animal organ maturation |
| positive regulation of transcription from RNA polymerase II promoter in response to stress |
| ER-nucleus signaling pathway |
| membrane protein proteolysis |
| regulation of cholesterol biosynthetic process |
| regulation of sterol biosynthetic process |
| regulation of cholesterol metabolic process |
| regulation of alcohol biosynthetic process |
| regulation of steroid biosynthetic process |
| metalloendopeptidase activity |
| endoplasmic reticulum unfolded protein response |
| regulation of steroid metabolic process |
| cholesterol metabolic process |
| regulation of transcription from RNA polymerase II promoter in response to stress |
| regulation of DNA-templated transcription in response to stress |
| cellular response to unfolded protein |
| secondary alcohol metabolic process |
| sterol metabolic process |
| anatomical structure maturation |
| cellular response to topologically incorrect protein |
| response to unfolded protein |
| response to topologically incorrect protein |
| regulation of lipid biosynthetic process |
| bone development |
| developmental maturation |
| response to endoplasmic reticulum stress |
| steroid metabolic process |
| positive regulation of DNA-binding transcription factor activity |
| alcohol metabolic process |
| regulation of lipid metabolic process |
| regulation of DNA-binding transcription factor activity |
| regulation of small molecule metabolic process |
| organic hydroxy compound metabolic process |
| skeletal system development |
| Golgi membrane |
| endoplasmic reticulum membrane |
| lipid metabolic process |
| positive regulation of transcription by RNA polymerase II |
| proteolysis |
| positive regulation of transcription, DNA-templated |
| positive regulation of nucleic acid-templated transcription |
| positive regulation of RNA biosynthetic process |
| cellular response to stress |
| positive regulation of RNA metabolic process |
| small molecule metabolic process |
| positive regulation of molecular function |
| positive regulation of nucleobase-containing compound metabolic process |
| positive regulation of macromolecule biosynthetic process |
| positive regulation of cellular biosynthetic process |
| positive regulation of gene expression |
| positive regulation of biosynthetic process |
CRISPR Data
Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)
Compound Hit
Most Correlated Genes in Chemogenomics
| Gene | Correlation |
|---|---|
| MBTPS1 | 0.698 |
| ALG6 | 0.599 |
| DPAGT1 | 0.573 |
| DHRSX | 0.57 |
| SEC63 | 0.552 |
| ALG1 | 0.534 |
| UAP1 | 0.531 |
| ATXN10 | 0.529 |
| SEC62 | 0.527 |
| SRD5A3 | 0.523 |
| PMM2 | 0.521 |
| ROMO1 | 0.517 |
| ALG5 | 0.517 |
| GFPT1 | 0.51 |
| PPP6C | 0.509 |
| ATP5O | 0.509 |
| PDAP1 | 0.507 |
| ALG8 | 0.505 |
| CTDNEP1 | 0.502 |
| THG1L | 0.501 |
| SRP14 | 0.497 |
| USO1 | 0.493 |
| ATP5A1 | 0.491 |
| DOHH | 0.486 |
| ATP5B | 0.485 |
| BAP1 | 0.484 |
| PGM3 | 0.484 |
| ATP5D | 0.483 |
| ATP5J | 0.478 |
| DNAJC3 | 0.478 |
| EIF1 | 0.476 |
| CBFB | 0.475 |
| PPCS | 0.473 |
| SCAP | 0.472 |
| DOLK | 0.469 |
| CHKA | 0.469 |
| MPDU1 | 0.468 |
| GTF3C4 | 0.467 |
| SUPV3L1 | 0.467 |
| VEZT | 0.465 |
| TRIAP1 | 0.464 |
| TRMT10A | 0.461 |
| SSB | 0.457 |
| DPM3 | 0.451 |
| EXOC4 | 0.451 |
| POLR3C | 0.447 |
| RFT1 | 0.446 |
| TRMT61A | 0.444 |
| ALG13 | 0.444 |
| ATP5C1 | 0.443 |
| KIAA1432 | 0.441 |
| GET4 | 0.439 |
| FH | 0.439 |
| RPIA | 0.438 |
| UBA5 | 0.438 |
| KDSR | 0.435 |
| ALG2 | 0.432 |
| UBE2G2 | 0.432 |
| IRF2BP2 | 0.431 |
| SEC16A | 0.429 |
| ATP2A2 | 0.429 |
| RNMT | 0.427 |
| ENY2 | 0.427 |
| TMEM41B | 0.427 |
| ELAC2 | 0.426 |
| MRPL23 | 0.426 |
| TPK1 | 0.425 |
| TMED10 | 0.424 |
| GMPPB | 0.424 |
| URM1 | 0.421 |
| ALG3 | 0.42 |
| TTC4 | 0.42 |
| YARS2 | 0.419 |
| VAPA | 0.419 |
| EEF1E1 | 0.418 |
| OPA1 | 0.417 |
| CEPT1 | 0.417 |
| TAMM41 | 0.413 |
| MRPS6 | 0.413 |
| MRPS33 | 0.412 |
| TAZ | 0.411 |
| PGGT1B | 0.41 |
| MRPS18A | 0.41 |
| KIAA0391 | 0.408 |
| ORAOV1 | 0.408 |
| MSTO1 | 0.408 |
| DNLZ | 0.407 |
| TRNT1 | 0.406 |
| CHCHD4 | 0.406 |
| MED16 | 0.405 |
| ZBTB11 | 0.404 |
| C17orf89 | 0.404 |
| TUFM | 0.404 |
| SLC25A19 | 0.403 |
| LSM11 | 0.401 |
| WBSCR16 | 0.4 |
| TMEM242 | 0.4 |
Tissues where Essential in the Avana Dataset (DepMap 20Q1)
Global Fraction of Cell Lines Where Essential: 290/694
| Tissue | Fraction Of Cell Lines Where Essential |
|---|---|
| 1290807.0 | 0/1 |
| 909776.0 | 0/1 |
| bile duct | 13/28 |
| blood | 19/26 |
| bone | 10/26 |
| breast | 10/30 |
| central nervous system | 17/49 |
| cervix | 1/4 |
| colorectal | 8/17 |
| esophagus | 6/11 |
| fibroblast | 1/1 |
| gastric | 5/14 |
| kidney | 6/18 |
| liver | 6/19 |
| lung | 28/72 |
| lymphocyte | 11/16 |
| ovary | 8/25 |
| pancreas | 4/22 |
| peripheral nervous system | 7/15 |
| plasma cell | 2/12 |
| prostate | 1/1 |
| skin | 9/20 |
| soft tissue | 5/9 |
| thyroid | 2/2 |
| upper aerodigestive | 14/22 |
| urinary tract | 16/28 |
| uterus | 0/5 |
Essentiality in NALM6
- Essentiality Rank: 3228
- Expression level (log2 read counts): 4.73
Expression Distribution
MBTPS2 Expression in NALM6 Cells: 4.73