ENSMUSG00000031835


Mus musculus

Features
Gene ID: ENSMUSG00000031835
  
Biological name :Mbtps1
  
Synonyms : Mbtps1 / Membrane-bound transcription factor site-1 protease / Q9WTZ2
  
Possible biological names infered from orthology : membrane bound transcription factor peptidase, site 1 / Q14703
  
Species: Mus musculus
  
Chr. number: 8
Strand: -1
Band: E1
Gene start: 119508156
Gene end: 119558735
  
Corresponding Affymetrix probe sets: 10582094 (MoGene1.0st)   1431385_a_at (Mouse Genome 430 2.0 Array)   1431386_s_at (Mouse Genome 430 2.0 Array)   1448240_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000080117
Ensembl peptide - ENSMUSP00000095965
NCBI entrez gene - 56453     See in Manteia.
MGI - MGI:1927235
RefSeq - XM_011248451
RefSeq - NM_001167910
RefSeq - NM_019709
RefSeq - XM_011248449
RefSeq - XM_011248450
RefSeq Peptide - NP_001161382
RefSeq Peptide - NP_062683
swissprot - Q9WTZ2
Ensembl - ENSMUSG00000031835
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 mbtps1ENSDARG00000014634Danio rerio
 MBTPS1ENSGALG00000003293Gallus gallus
 MBTPS1ENSG00000140943Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR000209  Peptidase S8/S53 domain
 IPR015500  Peptidase S8, subtilisin-related
 IPR022398  Peptidase S8, subtilisin, His-active site
 IPR023828  Peptidase S8, subtilisin, Ser-active site
 IPR029062  Class I glutamine amidotransferase-like
 IPR034185  Site-1 peptidase catalytic domain
 IPR036852  Peptidase S8/S53 domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006508 proteolysis ISO
 biological_processGO:0006629 lipid metabolic process IMP
 biological_processGO:0007040 lysosome organization ISS
 biological_processGO:0008202 steroid metabolic process IEA
 biological_processGO:0008203 cholesterol metabolic process IEA
 biological_processGO:0042990 obsolete regulation of transcription factor import into nucleus IDA
 cellular_componentGO:0000139 Golgi membrane TAS
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005788 endoplasmic reticulum lumen TAS
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005795 Golgi stack IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0004175 endopeptidase activity IDA
 molecular_functionGO:0004252 serine-type endopeptidase activity TAS
 molecular_functionGO:0008233 peptidase activity IEA
 molecular_functionGO:0008236 serine-type peptidase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA


Pathways (from Reactome)
Pathway description
Regulation of cholesterol biosynthesis by SREBP (SREBF)
ATF6 (ATF6-alpha) activates chaperones
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
CREB3 factors activate genes
Post-translational protein phosphorylation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000088 short mandible "reduced length of the lower bony framework of the mouth where the inferior teeth are held" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Chil1tm1Eli/Chil1tm1Eli,Tg(Scgb1a1-rtTA,tetO-Il13)1Eli/0
Genetic Background: involves: C57BL/6 * CBA

 MP:0000097 short maxilla "reduced length of the upper jaw bone" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:53370]
Show

Allelic Composition: Chil1tm1Eli/Chil1tm1Eli,Tg(Scgb1a1-rtTA,tetO-Il13)1Eli/0
Genetic Background: involves: C57BL/6 * CBA

 MP:0000165 abnormal hypertrophic chondrocyte zone "anomaly of the cartilage cell matrix layer " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:58795]
Show

Allelic Composition: Chil1tm1Eli/Chil1tm1Eli,Tg(Scgb1a1-rtTA,tetO-Il13)1Eli/0
Genetic Background: involves: C57BL/6 * CBA

 MP:0000182 increased circulating LDL cholesterol level "greater than average concentration in the blood of low density lipoprotein, which normally transports cholesterol to tissues other than the liver" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Bmp5cfe-se8J/Bmp5cfe-se8J
Genetic Background: involves: BALB/cByJ * C57BL/6J

 MP:0000186 decreased circulating HDL cholesterol level "lower than average level of high density lipoprotein in blood; this molecule transports cholesterol to the liver for excretion in bile" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Bmp5cfe-se8J/Bmp5cfe-se8J
Genetic Background: involves: BALB/cByJ * C57BL/6J

 MP:0001270 distended abdomen "abdomen appears curved outward or swollen; can be due to skeletal axial defects, enlarged visceral organs or megacolon" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Chil1tm1Eli/Chil1tm1Eli,Tg(Scgb1a1-rtTA,tetO-Il13)1Eli/0
Genetic Background: involves: C57BL/6 * CBA

 MP:0001533 abnormal skeleton physiology "anomalous function of the bony framework of the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Chil1tm1Eli/Chil1tm1Eli,Tg(Scgb1a1-rtTA,tetO-Il13)1Eli/0
Genetic Background: involves: C57BL/6 * CBA

 MP:0001674 abnormal triploblastic development "abnormal development of the three primary germ layers" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, tc:Teresa Chu , Mouse Genome Informatics Curator]
Show

Allelic Composition: Lamc1Gt(Ex183)Byg/Lamc1Gt(Ex183)Byg
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001923 reduced female fertility "reduced ability of female to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]
Show

Allelic Composition: Bmp5cfe-se8J/Bmp5cfe-se8J
Genetic Background: involves: BALB/cByJ * C57BL/6J

 MP:0002075 abnormal coat color "irregular or unusual pigmentation pattern of the hair in relation to control animals" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Bmp5cfe-se8J/Bmp5cfe-se8J
Genetic Background: involves: BALB/cByJ * C57BL/6J

 MP:0002109 abnormal limb morphology "abnormal development of limbs resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Chil1tm1Eli/Chil1tm1Eli,Tg(Scgb1a1-rtTA,tetO-Il13)1Eli/0
Genetic Background: involves: C57BL/6 * CBA

 MP:0002113 abnormal skeleton development "anomalous differentiation or remodeling of bone tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Chil1tm1Eli/Chil1tm1Eli,Tg(Scgb1a1-rtTA,tetO-Il13)1Eli/0
Genetic Background: involves: C57BL/6 * CBA

 MP:0002118 abnormal lipid homeostasis "anomaly in the state of equilibrium in the body with respect to lipids in the fluids and tissues" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Tlr4Lps-2Btlr/?
Genetic Background: C57BL/6J-Tlr4Lps-2Btlr

 MP:0002411 decreased susceptibility to bacterial infection "reduced likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Bmp5cfe-se8J/Bmp5cfe-se8J
Genetic Background: involves: BALB/cByJ * C57BL/6J

 MP:0002418 increased susceptibility to viral infection "greater likelihood that an organism will develop ill effects from a viral infection or from components of or toxins produced by a virus" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Bmp5cfe-se8J/Bmp5cfe-se8J
Genetic Background: involves: BALB/cByJ * C57BL/6J

 MP:0002644 decreased circulating triglyceride level "lower than normal concentration of triacylglycerols in the blood" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Tlr4Lps-2Btlr/?
Genetic Background: C57BL/6J-Tlr4Lps-2Btlr

 MP:0002657 chondrodystrophy "abnormal development of the cartilage primordia of long bones, resulting in abnormally short extremities but normal head and trunk" [il:Ira Lu , Mouse Genome Informatics Curator]
Show

Allelic Composition: Chil1tm1Eli/Chil1tm1Eli,Tg(Scgb1a1-rtTA,tetO-Il13)1Eli/0
Genetic Background: involves: C57BL/6 * CBA

 MP:0002896 abnormal bone mineralization "defect in the process by which minerals are deposited into bone" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Chil1tm1Eli/Chil1tm1Eli,Tg(Scgb1a1-rtTA,tetO-Il13)1Eli/0
Genetic Background: involves: C57BL/6 * CBA

 MP:0004134 abnormal chest morphology "malformation of the part of the body between the neck and the abdomen " [smb:Susan M Bello, Mouse Genome Informatics Curator, J:59168]
Show

Allelic Composition: Chil1tm1Eli/Chil1tm1Eli,Tg(Scgb1a1-rtTA,tetO-Il13)1Eli/0
Genetic Background: involves: C57BL/6 * CBA

 MP:0004965 inner cell mass degeneration 
Show

Allelic Composition: Lamc1Gt(Ex183)Byg/Lamc1Gt(Ex183)Byg
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0005079 defective cytotoxic T cell cytolysis "impaired ability of these cells to destroy or dissolve targeted cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:6692]
Show

Allelic Composition: Bmp5cfe-se8J/Bmp5cfe-se8J
Genetic Background: involves: BALB/cByJ * C57BL/6J

 MP:0005179 decreased total circulating cholesterol level "less than the normal concentration in the blood of these most abundant steroids in animal tissues, and precursors to steroid hormones and bile salts; also components of plasma membranes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Bmp5cfe-se8J/Bmp5cfe-se8J
Genetic Background: involves: BALB/cByJ * C57BL/6J

Allelic Composition: Mbtps1tm1Jdh/Mbtps1tm1Jdh,Tg(Mx1-cre)29-4Her/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * SJL

 MP:0005342 abnormal lipid absorption "anomalous ability of the body to take in fat-soluble substances (molecules composed of carbon and hydrogen and are characteristically insoluble in water" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:85204]
Show

Allelic Composition: Mbtps1tm1Jdh/Mbtps1tm1Jdh,Tg(Mx1-cre)29-4Her/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * SJL

 MP:0005352 small skull "less than the normal size of the cranium" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Chil1tm1Eli/Chil1tm1Eli,Tg(Scgb1a1-rtTA,tetO-Il13)1Eli/0
Genetic Background: involves: C57BL/6 * CBA

 MP:0005408 hypopigmentation "dilution of the pigment in the body" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
Show

Allelic Composition: Bmp5cfe-se8J/Bmp5cfe-se8J
Genetic Background: involves: BALB/cByJ * C57BL/6J

 MP:0005508 abnormal skeleton morphology "malformation of the bony framework of the body in vertebrates" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Chil1tm1Eli/Chil1tm1Eli,Tg(Scgb1a1-rtTA,tetO-Il13)1Eli/0
Genetic Background: involves: C57BL/6 * CBA

 MP:0005621 abnormal cell physiology "aberration in the vital processes of the cell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, hdene:Howard Dene , Mouse Genome Informatics Curator]
Show

Allelic Composition: Bmp5cfe-se8J/Bmp5cfe-se8J
Genetic Background: involves: BALB/cByJ * C57BL/6J

 MP:0008275 failure of endochondral bone ossification "failure to initiate or a block in the process of the formation of bone by the replacement of cartilage tissue with mineralized bone" [GO:0001958]
Show

Allelic Composition: Chil1tm1Eli/Chil1tm1Eli,Tg(Scgb1a1-rtTA,tetO-Il13)1Eli/0
Genetic Background: involves: C57BL/6 * CBA

 MP:0008537 increased susceptibility to induced colitis "increased severity or induction threshold of colitis upon treatment of an organism with intestinal inflammation agents such as dextran sodium sulfate (DSS)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Bmp5cfe-se8J/Bmp5cfe-se8J
Genetic Background: involves: BALB/cByJ * C57BL/6J

 MP:0008657 increased interleukin-1 beta secretion "increase in the production or release of an interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein on monocytes, macrophages and other cells; proteolytic processing of the precursor form by caspase 1 results in release of the active form of interleukin-1beta from the membrane" [MESH:D12.644.276.374.465.501.600]
Show

Allelic Composition: Bmp5cfe-se8J/Bmp5cfe-se8J
Genetic Background: involves: BALB/cByJ * C57BL/6J

 MP:0008705 increased interleukin-6 secretion "increase in the production or release of a cytokine that stimulates the growth and differentiation of B-cells and is also a growth factor for hybridomas and plasmacytomas, and is produced by many different cells including T-cells, monocytes and fibroblasts" [MESH:D12.644.276.374.465.506]
Show

Allelic Composition: Bmp5cfe-se8J/Bmp5cfe-se8J
Genetic Background: involves: BALB/cByJ * C57BL/6J

 MP:0009356 decreased liver triglyceride level "lower than normal concentration of triacylglycerols in the liver" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Mbtps1tm1Jdh/Mbtps1tm1Jdh,Tg(Mx1-cre)29-4Her/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * SJL

 MP:0009703 decreased birth body size "reduction in average body size at birth compared to controls" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Chil1tm1Eli/Chil1tm1Eli,Tg(Scgb1a1-rtTA,tetO-Il13)1Eli/0
Genetic Background: involves: C57BL/6 * CBA

 MP:0009766 increased sensitivity to xenobiotic induced morbidity/mortality "decrease in the amount of a foreign compound required to cause death or diseased state" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Bmp5cfe-se8J/Bmp5cfe-se8J
Genetic Background: involves: BALB/cByJ * C57BL/6J

 MP:0009908 protruding tongue "the tongue extends out beyond the oral cavity past the lips; may be due to paralysis, oral cavity size, tongue hypoplasia or dysfunction of the hypoglossal nerve" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Chil1tm1Eli/Chil1tm1Eli,Tg(Scgb1a1-rtTA,tetO-Il13)1Eli/0
Genetic Background: involves: C57BL/6 * CBA

 MP:0011087 complete neonatal lethality "death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)" [MGI:csmith]
Show

Allelic Composition: Chil1tm1Eli/Chil1tm1Eli,Tg(Scgb1a1-rtTA,tetO-Il13)1Eli/0
Genetic Background: involves: C57BL/6 * CBA

 MP:0011091 complete prenatal lethality "death of all organisms of a given genotype in a population between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
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Allelic Composition: Tslptm1.1Pcn/Tslptm1.1Pcn,Tg(KRT14-cre/ERT2)1Ipc/0
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0011093 complete embryonic lethality at implantation "death of all organisms of a given genotype in a population at the point of implantation (Mus: E4.5)" [MGI:csmith]
Show

Allelic Composition: Lamc1Gt(Ex183)Byg/Lamc1Gt(Ex183)Byg
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0011100 complete preweaning lethality "death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Mbtps1tm1Jdh/Mbtps1tm1Jdh,Tg(Mx1-cre)29-4Her/0
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * SJL

 MP:0011101 partial prenatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
Show

Allelic Composition: Tslptm1.1Pcn/Tslptm1.1Pcn,Tg(KRT14-cre/ERT2)1Ipc/0
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0030420 short basicranium "decreased length of the anterior and/or posterior portions of the skull base" [MGI:anna]
Show

Allelic Composition: Chil1tm1Eli/Chil1tm1Eli,Tg(Scgb1a1-rtTA,tetO-Il13)1Eli/0
Genetic Background: involves: C57BL/6 * CBA

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000038648 Q8BH52 / Creb3l2 / Cyclic AMP-responsive element-binding protein 3-like protein 2 Processed cyclic AMP-responsive element-binding protein 3-like protein 2 / Q70SY1* / cAMP responsive elemen...  / reaction
 ENSMUSG00000020538 Q9WTN3 / Srebf1 / Mus musculus sterol regulatory element binding transcription factor 1 (Srebf1), transcript variant 4, mRNA. / P36956* / sterol regulatory element binding transcription factor 1*  / reaction
 ENSMUSG00000022463 Q3U1N2 / Srebf2 / sterol regulatory element binding factor 2 / Q12772* / sterol regulatory element binding transcription factor 2*  / reaction
 ENSMUSG00000035041 Q91XE9 / Creb3l3 / Cyclic AMP-responsive element-binding protein 3-like protein 3 Processed cyclic AMP-responsive element-binding protein 3-like protein 3 / Q68CJ9* / cAMP responsive elemen...  / reaction
 ENSMUSG00000028466 Creb3 / cAMP responsive element binding protein 3 / O43889*  / reaction
 ENSMUSG00000026663 Atf6 / F6VAN0 / Cyclic AMP-dependent transcription factor ATF-6 alpha Processed cyclic AMP-dependent transcription factor ATF-6 alpha / P18850* / activating transcription factor 6*  / reaction
 ENSMUSG00000032485 Scap / Q6GQT6 / SREBF chaperone / Q12770*  / reaction
 ENSMUSG00000027938 Q9D2A5 / Creb3l4 / Cyclic AMP-responsive element-binding protein 3-like protein 4 Processed cyclic AMP-responsive element-binding protein 3-like protein 4 / Q8TEY5* / cAMP responsive elemen...  / reaction






 

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