Details for: MBTPS1

Gene ID: 8720

Symbol: MBTPS1

Ensembl ID: ENSG00000140943

Description: membrane bound transcription factor peptidase, site 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 306.5989
    Cell Significance Index: -47.6900
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 184.4716
    Cell Significance Index: -46.7900
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 105.5446
    Cell Significance Index: -49.8300
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 101.3151
    Cell Significance Index: -41.1600
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 91.8378
    Cell Significance Index: -47.2400
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 43.3520
    Cell Significance Index: -41.3900
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 39.2350
    Cell Significance Index: -48.3800
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 17.3357
    Cell Significance Index: -46.4400
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 13.0264
    Cell Significance Index: -40.0100
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 12.3820
    Cell Significance Index: -48.8600
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 10.4360
    Cell Significance Index: -22.8400
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 6.1297
    Cell Significance Index: 73.0700
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 2.3479
    Cell Significance Index: 147.9800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.8486
    Cell Significance Index: 370.8300
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.6568
    Cell Significance Index: 180.2100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.6212
    Cell Significance Index: 124.4100
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.4952
    Cell Significance Index: 20.4000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.2745
    Cell Significance Index: 252.9300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.2740
    Cell Significance Index: 57.7500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.1907
    Cell Significance Index: 427.0700
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 1.1674
    Cell Significance Index: 60.8100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 1.1650
    Cell Significance Index: 51.5300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 1.1453
    Cell Significance Index: 206.4600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.0829
    Cell Significance Index: 148.7100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 1.0653
    Cell Significance Index: 40.3400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.9731
    Cell Significance Index: 45.3700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.8733
    Cell Significance Index: 107.3900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.7658
    Cell Significance Index: 42.9700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.7253
    Cell Significance Index: 396.0800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.7211
    Cell Significance Index: 20.7800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.6991
    Cell Significance Index: 42.9700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.6780
    Cell Significance Index: 45.5900
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.5246
    Cell Significance Index: 362.8000
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.4527
    Cell Significance Index: 10.4600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.4200
    Cell Significance Index: 185.7100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.4193
    Cell Significance Index: 29.0000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.3866
    Cell Significance Index: 49.5600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3525
    Cell Significance Index: 34.8700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.3505
    Cell Significance Index: 22.6200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.3470
    Cell Significance Index: 18.0300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3269
    Cell Significance Index: 295.2100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.3044
    Cell Significance Index: 22.6900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.2809
    Cell Significance Index: 7.8500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.2485
    Cell Significance Index: 11.6800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2168
    Cell Significance Index: 41.2500
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.2129
    Cell Significance Index: 4.1600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1780
    Cell Significance Index: 30.3900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.1674
    Cell Significance Index: 257.7500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.1371
    Cell Significance Index: 252.8400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.1204
    Cell Significance Index: 226.7100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.1150
    Cell Significance Index: 8.1300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1056
    Cell Significance Index: 3.7100
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.0880
    Cell Significance Index: 2.1100
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.0836
    Cell Significance Index: 2.1500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0698
    Cell Significance Index: 31.6700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0647
    Cell Significance Index: 41.0900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.0511
    Cell Significance Index: 8.3100
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0495
    Cell Significance Index: 5.8300
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.0371
    Cell Significance Index: 1.0100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0264
    Cell Significance Index: 35.9600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0162
    Cell Significance Index: 11.8500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0128
    Cell Significance Index: -9.4600
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.0142
    Cell Significance Index: -0.2100
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0313
    Cell Significance Index: -19.5700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0329
    Cell Significance Index: -24.9300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0462
    Cell Significance Index: -5.9700
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0521
    Cell Significance Index: -1.3700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0592
    Cell Significance Index: -1.5800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0620
    Cell Significance Index: -34.9500
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0774
    Cell Significance Index: -2.2200
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0848
    Cell Significance Index: -1.4200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1088
    Cell Significance Index: -11.1100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1136
    Cell Significance Index: -23.9300
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1155
    Cell Significance Index: -1.9800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1431
    Cell Significance Index: -41.1800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1623
    Cell Significance Index: -23.5900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1660
    Cell Significance Index: -19.3400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1745
    Cell Significance Index: -19.9900
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.1906
    Cell Significance Index: -4.0600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2215
    Cell Significance Index: -11.6300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2260
    Cell Significance Index: -7.2400
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2386
    Cell Significance Index: -27.2400
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: -0.2465
    Cell Significance Index: -1.9000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.2521
    Cell Significance Index: -6.7600
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: -0.2600
    Cell Significance Index: -1.6000
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.2724
    Cell Significance Index: -5.6500
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.2898
    Cell Significance Index: -10.0700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3615
    Cell Significance Index: -37.6400
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.4401
    Cell Significance Index: -12.5600
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.5244
    Cell Significance Index: -41.5300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.6743
    Cell Significance Index: -41.3400
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.7548
    Cell Significance Index: -15.8000
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.7667
    Cell Significance Index: -7.0600
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.7699
    Cell Significance Index: -16.3400
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.7778
    Cell Significance Index: -17.0300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.8461
    Cell Significance Index: -18.3300
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.8488
    Cell Significance Index: -7.1300
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.8525
    Cell Significance Index: -27.1500
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.8818
    Cell Significance Index: -28.8700
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.9385
    Cell Significance Index: -20.0600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** 1. **Membrane-bound transcription factor peptidase**: MBTPS1 is a transmembrane protein that contains a peptidase domain, which is responsible for its enzymatic activity. 2. **Serine-type endopeptidase**: MBTPS1 is a serine protease that cleaves specific peptide bonds, leading to the processing of its substrates. 3. **High specificity**: MBTPS1 is highly specific for its substrates, with a narrow substrate specificity profile. 4. **Tissue-specific expression**: MBTPS1 is expressed in specific tissues, including glandular epithelial cells, retinal rod cells, and neurons. 5. **Regulation of cholesterol biosynthesis**: MBTPS1 has been implicated in the regulation of cholesterol biosynthesis, particularly through its interaction with sterol regulatory element-binding protein (SREBP). **Pathways and Functions** 1. **Assembly of active lipoprotein and lipase complexes**: MBTPS1 is involved in the proteolytic processing of lipoprotein lipase and cholesterol ester transfer protein, which are essential for lipoprotein assembly and remodeling. 2. **Atf6-mediated unfolded protein response**: MBTPS1 interacts with ATF6, a transcription factor involved in the unfolded protein response (UPR), which is a cellular response to endoplasmic reticulum (ER) stress. 3. **Regulation of cholesterol biosynthesis**: MBTPS1 has been implicated in the regulation of cholesterol biosynthesis, particularly through its interaction with SREBP. 4. **Protein processing and maturation**: MBTPS1 is involved in the proteolytic processing of several proteins, including lipoprotein lipase and cholesterol ester transfer protein. 5. **Cellular responses to stimuli and stress**: MBTPS1 is involved in cellular responses to stimuli and stress, including the unfolded protein response and cellular responses to ER stress. **Clinical Significance** 1. **Lipid metabolism disorders**: Mutations in the MBTPS1 gene have been associated with lipid metabolism disorders, including hyperlipidemia and atherosclerosis. 2. **Neurological disorders**: MBTPS1 has been implicated in neurological disorders, including Alzheimer's disease and Parkinson's disease, through its involvement in protein processing and maturation. 3. **Cancer**: MBTPS1 has been implicated in cancer, particularly through its involvement in cellular responses to stress and the unfolded protein response. 4. **Regulation of cholesterol biosynthesis**: MBTPS1 is a potential therapeutic target for the regulation of cholesterol biosynthesis, particularly in the treatment of hyperlipidemia and atherosclerosis. In conclusion, MBTPS1 is a critical protein involved in various cellular processes, including lipid metabolism, protein processing, and regulation of cholesterol biosynthesis. Its specific expression in certain tissues and its involvement in various cellular pathways make it a valuable target for therapeutic interventions in lipid metabolism disorders, neurological disorders, and cancer.

Genular Protein ID: 1718744739

Symbol: MBTP1_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 10944850

Title: Genomic structure and chromosomal mapping of the human site-1 protease (S1P) gene.

PubMed ID: 10944850

DOI: 10.1007/s100380070029

PubMed ID: 7788527

Title: Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1.

PubMed ID: 7788527

DOI: 10.1093/dnares/2.1.37

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15616553

Title: The sequence and analysis of duplication-rich human chromosome 16.

PubMed ID: 15616553

DOI: 10.1038/nature03187

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 10644685

Title: Biosynthesis and enzymatic characterization of human SKI-1/S1P and the processing of its inhibitory prosegment.

PubMed ID: 10644685

DOI: 10.1074/jbc.275.4.2349

PubMed ID: 9990022

Title: Mammalian subtilisin/kexin isozyme SKI-1: a widely expressed proprotein convertase with a unique cleavage specificity and cellular localization.

PubMed ID: 9990022

DOI: 10.1073/pnas.96.4.1321

PubMed ID: 12782636

Title: A serine protease inhibitor prevents endoplasmic reticulum stress-induced cleavage but not transport of the membrane-bound transcription factor ATF6.

PubMed ID: 12782636

DOI: 10.1074/jbc.m300923200

PubMed ID: 16417584

Title: Cleavage of the membrane-bound transcription factor OASIS in response to endoplasmic reticulum stress.

PubMed ID: 16417584

DOI: 10.1111/j.1471-4159.2005.03596.x

PubMed ID: 21719679

Title: A key enzyme in the biogenesis of lysosomes is a protease that regulates cholesterol metabolism.

PubMed ID: 21719679

DOI: 10.1126/science.1205677

PubMed ID: 26091039

Title: A single kinase generates the majority of the secreted phosphoproteome.

PubMed ID: 26091039

DOI: 10.1016/j.cell.2015.05.028

PubMed ID: 30046013

Title: Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking.

PubMed ID: 30046013

DOI: 10.1172/jci.insight.121596

PubMed ID: 34349020

Title: Proteolytic processing of secretory pathway kinase Fam20C by site-1 protease promotes biomineralization.

PubMed ID: 34349020

DOI: 10.1073/pnas.2100133118

PubMed ID: 36096887

Title: GCAF(TMEM251) regulates lysosome biogenesis by activating the mannose-6-phosphate pathway.

PubMed ID: 36096887

DOI: 10.1038/s41467-022-33025-1

PubMed ID: 36330313

Title: Identification of a New Variant of the MBTPS1 Gene of the Kondo-Fu Type of Spondyloepiphyseal Dysplasia (SEDKF) in a Saudi Patient.

PubMed ID: 36330313

DOI: 10.1155/2022/5498109

Sequence Information:

  • Length: 1052
  • Mass: 117749
  • Checksum: CA6F013588595B45
  • Sequence:
  • MKLVNIWLLL LVVLLCGKKH LGDRLEKKSF EKAPCPGCSH LTLKVEFSST VVEYEYIVAF 
    NGYFTAKARN SFISSALKSS EVDNWRIIPR NNPSSDYPSD FEVIQIKEKQ KAGLLTLEDH 
    PNIKRVTPQR KVFRSLKYAE SDPTVPCNET RWSQKWQSSR PLRRASLSLG SGFWHATGRH 
    SSRRLLRAIP RQVAQTLQAD VLWQMGYTGA NVRVAVFDTG LSEKHPHFKN VKERTNWTNE 
    RTLDDGLGHG TFVAGVIASM RECQGFAPDA ELHIFRVFTN NQVSYTSWFL DAFNYAILKK 
    IDVLNLSIGG PDFMDHPFVD KVWELTANNV IMVSAIGNDG PLYGTLNNPA DQMDVIGVGG 
    IDFEDNIARF SSRGMTTWEL PGGYGRMKPD IVTYGAGVRG SGVKGGCRAL SGTSVASPVV 
    AGAVTLLVST VQKRELVNPA SMKQALIASA RRLPGVNMFE QGHGKLDLLR AYQILNSYKP 
    QASLSPSYID LTECPYMWPY CSQPIYYGGM PTVVNVTILN GMGVTGRIVD KPDWQPYLPQ 
    NGDNIEVAFS YSSVLWPWSG YLAISISVTK KAASWEGIAQ GHVMITVASP AETESKNGAE 
    QTSTVKLPIK VKIIPTPPRS KRVLWDQYHN LRYPPGYFPR DNLRMKNDPL DWNGDHIHTN 
    FRDMYQHLRS MGYFVEVLGA PFTCFDASQY GTLLMVDSEE EYFPEEIAKL RRDVDNGLSL 
    VIFSDWYNTS VMRKVKFYDE NTRQWWMPDT GGANIPALNE LLSVWNMGFS DGLYEGEFTL 
    ANHDMYYASG CSIAKFPEDG VVITQTFKDQ GLEVLKQETA VVENVPILGL YQIPAEGGGR 
    IVLYGDSNCL DDSHRQKDCF WLLDALLQYT SYGVTPPSLS HSGNRQRPPS GAGSVTPERM 
    EGNHLHRYSK VLEAHLGDPK PRPLPACPRL SWAKPQPLNE TAPSNLWKHQ KLLSIDLDKV 
    VLPNFRSNRP QVRPLSPGES GAWDIPGGIM PGRYNQEVGQ TIPVFAFLGA MVVLAFFVVQ 
    INKAKSRPKR RKPRVKRPQL MQQVHPPKTP SV

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.