======= MBTPS1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: MBTPS1
  * **<color #00a2e8>Official Name</color>**: membrane bound transcription factor peptidase, site 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=8720|8720]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q14703|Q14703]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=MBTPS1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20MBTPS1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/603355|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**:  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. {ECO:0000269|PubMed:21719679}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|Peptidase S8|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|ATF6-mediated unfolded protein response|
|membrane protein intracellular domain proteolysis|
|ER-nucleus signaling pathway|
|Golgi stack|
|membrane protein proteolysis|
|regulation of cholesterol biosynthetic process|
|regulation of sterol biosynthetic process|
|regulation of cholesterol metabolic process|
|lysosome organization|
|lytic vacuole organization|
|regulation of alcohol biosynthetic process|
|regulation of steroid biosynthetic process|
|protein import into nucleus|
|endoplasmic reticulum unfolded protein response|
|regulation of steroid metabolic process|
|import into nucleus|
|cholesterol metabolic process|
|cellular response to unfolded protein|
|secondary alcohol metabolic process|
|vacuole organization|
|sterol metabolic process|
|protein import|
|cellular response to topologically incorrect protein|
|protein localization to nucleus|
|response to unfolded protein|
|serine-type endopeptidase activity|
|response to topologically incorrect protein|
|regulation of lipid biosynthetic process|
|response to endoplasmic reticulum stress|
|steroid metabolic process|
|nucleocytoplasmic transport|
|nuclear transport|
|endoplasmic reticulum lumen|
|alcohol metabolic process|
|post-translational protein modification|
|regulation of lipid metabolic process|
|regulation of small molecule metabolic process|
|establishment of protein localization to organelle|
|organic hydroxy compound metabolic process|
|Golgi membrane|
|protein localization to organelle|
|endoplasmic reticulum membrane|
|Golgi apparatus|
|intracellular protein transport|
|lipid metabolic process|
|proteolysis|
|protein transport|
|intracellular transport|
|peptide transport|
|amide transport|
|cellular protein localization|
|cellular macromolecule localization|
|establishment of protein localization|
|cellular response to stress|
|small molecule metabolic process|
|establishment of localization in cell|
|nitrogen compound transport|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp461|BS-181 20μM R08 exp461]]|-3.22|
|[[:results:exp226|Cerivastatin 0.15μM R05 exp226]]|-3.16|
|[[:results:exp169|BH1 1μM R04 exp169]]|-2.98|
|[[:results:exp282|Fluvastatin 2.2μM R06 exp282]]|-2.88|
|[[:results:exp434|Vemurafenib 6.6μM R08 exp434]]|-2.86|
|[[:results:exp160|Ribavirin 10 to 15μM on day4 R04 exp160]]|-2.69|
|[[:results:exp508|NN-Dimethylsphingosine 2.5μM R08 exp508]]|-2.6|
|[[:results:exp454|Bafilomycin-A1 0.009μM R08 exp454]]|-2.48|
|[[:results:exp234|Ethanol 0.01 R05 exp234]]|-2.37|
|[[:results:exp538|ZLN024 50μM R08 exp538]]|-2.24|
|[[:results:exp182|IU1-47 25μM R04 exp182]]|-2.2|
|[[:results:exp236|GSK2606414 1μM R05 exp236]]|-2.19|
|[[:results:exp452|Azithromycin 100μM R08 exp452]]|-2.15|
|[[:results:exp225|Celastrol 0.12μM R05 exp225]]|-2.1|
|[[:results:exp131|L-74142 5μM R03 exp131]]|-2.1|
|[[:results:exp471|Cholesterol 0.003 to 0.006 to 0.1μM on day2 then day6 R08 exp471]]|-2.04|
|[[:results:exp68|Clomiphene 4.4μM R02 exp68]]|-2.02|
|[[:results:exp84|UM0125461 0.74μM R02 exp84]]|-1.97|
|[[:results:exp89|Vemurafenib 6.6μM R02 exp89]]|-1.96|
|[[:results:exp463|Caffeine 2600μM R08 exp463]]|-1.93|
|[[:results:exp514|Phorbol-12-myristate-13-acetate 0.57μM R08 exp514]]|-1.87|
|[[:results:exp530|Thioridazine 5μM R08 exp530]]|-1.86|
|[[:results:exp164|Q15 1 to 2μM on day4 R04 exp164]]|-1.78|
|[[:results:exp341|BRD2 inhibitor II 20μM R07 exp341]]|-1.75|
|[[:results:exp495|IWR1 50μM R08 exp495]]|-1.74|
|[[:results:exp422|Wiskostatin 3μM R07 exp422]]|-1.72|
|[[:results:exp498|Lead acetate 2000μM R08 exp498 no dilution day6]]|1.71|
|[[:results:exp38|Wortmannin 5μM R00 exp38]]|1.71|
|[[:results:exp518|RK-33 8μM R08 exp518]]|1.72|
|[[:results:exp335|Aminopterin 0.005μM R07 exp335]]|1.77|
|[[:results:exp12|Chloramphenicol 2μM R00 exp12]]|1.77|
|[[:results:exp106|UM131593 0.2μM R03 exp106]]|1.77|
|[[:results:exp134|MS023 2μM R03 exp134]]|1.78|
|[[:results:exp380|NMS-873 0.07μM R07 exp380]]|1.79|
|[[:results:exp96|BI-2536 0.02μM R03 exp96]]|1.88|
|[[:results:exp440|Aphidicolin 0.4μM R08 exp440]]|1.89|
|[[:results:exp103|Taxol 0.004μM R03 exp103]]|1.91|
|[[:results:exp222|Betulinic acid 10 to 15μM on day4 R05 exp222]]|1.92|
|[[:results:exp513|ONC212 0.15μM R08 exp513]]|1.94|
|[[:results:exp431|Rotenone 0.07μM R08 exp431]]|1.94|
|[[:results:exp349|Cytochalasin-B 5μM R07 exp349]]|1.95|
|[[:results:exp448|Ammonium tetrathiomolybdate 10μM R08 exp448]]|2.06|
|[[:results:exp329|Hydroxyurea 100μM R07 exp329]]|2.09|
|[[:results:exp135|MS023 7μM R03 exp135]]|2.1|
|[[:results:exp211|AICAR 240μM R05 exp211]]|2.15|
|[[:results:exp299|Talazoparib 0.006μM R06 exp299]]|2.22|
|[[:results:exp433|LJH685 50μM R08 exp433]]|2.23|
|[[:results:exp531|THZ1 0.06μM R08 exp531]]|2.26|
|[[:results:exp488|Hippuristanol 0.12μM R08 exp488]]|2.54|
|[[:results:exp489|Hippuristanol 0.12μM R08 exp489 no dilution day6]]|2.57|
|[[:results:exp346|CoCl2 18μM R07 exp346]]|2.69|
|[[:results:exp460|BML-284 0.09μM R08 exp460]]|2.79|
|[[:results:exp264|Arsenate 40μM R06 exp264]]|2.99|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:m:mbtps2|MBTPS2]]|0.698|
|[[:human genes:s:scap|SCAP]]|0.671|
|[[:human genes:c:chka|CHKA]]|0.558|
|[[:human genes:f:flvcr1|FLVCR1]]|0.524|
|[[:human genes:r:rgp1|RGP1]]|0.514|
|[[:human genes:a:alg6|ALG6]]|0.511|
|[[:human genes:c:cog5|COG5]]|0.501|
|[[:human genes:k:kiaa1432|KIAA1432]]|0.5|
|[[:human genes:k:kdsr|KDSR]]|0.495|
|[[:human genes:s:sec63|SEC63]]|0.486|
|[[:human genes:g:gpr107|GPR107]]|0.484|
|[[:human genes:s:srd5a3|SRD5A3]]|0.481|
|[[:human genes:v:vkorc1l1|VKORC1L1]]|0.48|
|[[:human genes:c:ctdnep1|CTDNEP1]]|0.472|
|[[:human genes:u:unc50|UNC50]]|0.471|
|[[:human genes:r:romo1|ROMO1]]|0.468|
|[[:human genes:a:arl1|ARL1]]|0.464|
|[[:human genes:v:vapa|VAPA]]|0.464|
|[[:human genes:u:uso1|USO1]]|0.463|
|[[:human genes:c:cept1|CEPT1]]|0.461|
|[[:human genes:d:dpagt1|DPAGT1]]|0.455|
|[[:human genes:c:cog7|COG7]]|0.45|
|[[:human genes:s:sec62|SEC62]]|0.445|
|[[:human genes:a:alg5|ALG5]]|0.432|
|[[:human genes:d:dhrsx|DHRSX]]|0.432|
|[[:human genes:m:mpdu1|MPDU1]]|0.425|
|[[:human genes:s:sptlc1|SPTLC1]]|0.424|
|[[:human genes:a:atp2a2|ATP2A2]]|0.422|
|[[:human genes:a:atp6v1g1|ATP6V1G1]]|0.42|
|[[:human genes:p:pik3c3|PIK3C3]]|0.416|
|[[:human genes:d:dolk|DOLK]]|0.409|
|[[:human genes:p:pgm3|PGM3]]|0.408|
|[[:human genes:g:gtf3c4|GTF3C4]]|0.407|
|[[:human genes:g:gfpt1|GFPT1]]|0.406|
|[[:human genes:j:jtb|JTB]]|0.405|
|[[:human genes:d:dohh|DOHH]]|0.404|
|[[:human genes:s:sptlc2|SPTLC2]]|0.403|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 133/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|6/28|
|blood|5/28|
|bone|3/26|
|breast|6/33|
|central nervous system|11/56|
|cervix|1/4|
|colorectal|3/17|
|esophagus|3/13|
|fibroblast|0/1|
|gastric|1/16|
|kidney|6/21|
|liver|4/20|
|lung|16/75|
|lymphocyte|3/16|
|ovary|6/26|
|pancreas|5/24|
|peripheral nervous system|0/16|
|plasma cell|1/15|
|prostate|1/1|
|skin|2/24|
|soft tissue|3/9|
|thyroid|0/2|
|upper aerodigestive|7/22|
|urinary tract|10/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 1935
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 6.89 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='MBTPS1 Expression in NALM6 Cells: 6.89'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>