AutismKB 2.0

Annotation Detail for MBTPS1


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Basic Information Top
Gene Symbol:MBTPS1 ( KIAA0091,MGC138711,MGC138712,PCSK8,S1P,SKI-1 )
Gene Full Name: membrane-bound transcription factor peptidase, site 1
Band: 16q23.3-q24.1
Quick LinksEntrez ID:8720; OMIM: 603355; Uniprot ID:MBTP1_HUMAN; ENSEMBL ID: ENSG00000140943; HGNC ID: 15456
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04141Protein processing in endoplasmic reticulum
Pathway IDPathway Name
Diabetes pathways
No data
No data
Pathway IDPathway Name
500130Activation of Chaperones by ATF6-alpha
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000643 Ammonium Chloride Ammonium Chloride affects the expression of MBTPS1 mRNAaffects expression 16483693
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of MBTPS1 mRNAdecreases expression 19150397
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in decreased expression of MBTPS1 mRNAdecreases expression 15336504
C121718 dicyclanil dicyclanil results in increased expression of MBTPS1 mRNAincreases expression 15664270
D005419 Flavonoids Flavonoids results in decreased expression of MBTPS1 mRNAdecreases expression 18035473
D010665 Phenylpropanolamine Phenylpropanolamine results in decreased expression of MBTPS1 mRNAdecreases expression 16465460
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of MBTPS1 mRNAaffects binding|increases activity|increases expression 19710929
C006253 pirinixic acid pirinixic acid results in decreased expression of MBTPS1 mRNAdecreases expression 18445702
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 3.9518287403
MESH:D055371 Acute Lung Injury pirinixic acid 3.4218653653
MESH:D018248 Adenoma, Liver Cell dicyclanil 11.8917162532
MESH:D018248 Adenoma, Liver Cell pirinixic acid 11.8916434500
MESH:D000855 Anorexia Phenylpropanolamine 5.9917684035
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.4319483382
MESH:D006528 Carcinoma, Hepatocellular dicyclanil 3.0617162532
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.9020889678
MESH:D002779 Cholestasis pirinixic acid 3.0319176532
MESH:D019465 Craniofacial Abnormalities marker/mechanism 16759393
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5318249437
MESH:D004487 Edema pirinixic acid 2.7612083418
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.1320426865
MESH:D005234 Fatty Liver pirinixic acid 3.0419236843 20131406
MESH:D006333 Heart Failure pirinixic acid 2.6920558911
MESH:D006529 Hepatomegaly pirinixic acid 3.3516221962 19772884 19176532 18467677
MESH:D006943 Hyperglycemia pirinixic acid 3.4520558911
MESH:D007249 Inflammation Flavonoids 2.7717296493
MESH:D007333 Insulin Resistance pirinixic acid 2.8016306350
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008113 Liver Neoplasms dicyclanil 5.1720118626
MESH:D008113 Liver Neoplasms pirinixic acid 5.1720007298 15890375 16377806
MESH:D009135 Muscular Diseases pirinixic acid 3.8616239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2419151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1616411023
MESH:D009369 Neoplasms pirinixic acid 2.0617405874
MESH:D009765 Obesity pirinixic acid 1.8620558911
MESH:D011471 Prostatic Neoplasms marker/mechanism 17013881
MESH:D015427 Reperfusion Injury pirinixic acid 2.5019058328
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 2.808532709
Pathway ID Pathway Name
REACT:15380 Diabetes pathways
KEGG:04141 Protein processing in endoplasmic reticulum
Pharmacogenomics Knowledge Base Top
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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018