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General Information



Gene_Symbol Gene_ID Gene_Name Chromosome Alias
MBTPS1 8720 membrane-bound transcription factor peptidase, site 1  16S1P, KIAA0091, SKI-1, PCSK8 







  • Evidence
  • Gene
  • mRNA
  • CDS
  • Protein
  • PTM
  • Enzyme
  • PPi
  • Pathway
  • Structural
  • Domain
  • Ontology
  • SNP
  • Drug
  • External Links



Evidence Information


Pubmed ID Year Sample Information Techniques Mechanism Fold Change Remark
25117815   2014Cell line : -

Source : -

Sample Type : Utilised exome-sequencing data

No. of Sample : 25 sporadic microsatellite-instable (MSI)CRC

Stage : -

Searched for base-specific somatic mutation hotspotMutation--


Gene Details



NC_000016.9 (84087368..84150517, complement)

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Gene Type protein coding
Gene Family -
Description 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]  
Chromosome 16
Location 16q24
Start 84087368  
End 84150517  
Strand -  
Gene Sequence

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Length 63150  
OMIM ID 603355   
HGNC ID HGNC:15456   
Unigene ID Hs.75890   
Ensembl ID ENSG00000140943   
PharmGKB ID PA30671   

mRNA Information


mRNA ID ?NM_003791.3
Exon  
mRNA Sequence

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Length  



CDS Information


   
Location
CDS Sequence

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CCDS ID CCDS10941.1



Protein Information


      
Protein IDNP_003782.1
Protein Namemembrane-bound transcription factor peptidase, site 1
Molecular Wt. (Da)0
Protein Sequence

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Length 1052  
Uniprot IDQ16186
Ensembl Protein ID ENSP00000253003  



Post-translational Modification Information (Source : HPRD)


Residue Type site
KProteolytic Cleavage137
LProteolytic Cleavage186
KProteolytic Cleavage137
LProteolytic Cleavage186
TProteolytic Cleavage65
SPhosphorylation1051

Enzyme Information


No matching records could be found.

PPi Information


(Click to view network : Source STRING)      View   

                                             
Interactant Gene ID (Source: HPRD) Gene Symbol HPRD ID Ref Seq ID Technique References
627BDNF214NP_001137282.1in vitro9990022   
821CANX252NP_001737.1in vivo11756446   
1388ATF6B2992NP_004372.3in vivo11163209   


Pathway Information


      
Pathway Name Pathway ID
Protein processing in endoplasmic reticulum hsa04141


Structure Information


No matching records could be found.

Domain Information




ID Location Description
cd07479203-455  Peptidases_S8_SKI-1_like
cl10459203-455  Peptidases_S8_S53 superfamily
cd07487209-451  Peptidases_S8_1
cd00306212-449  Peptidases_S8_S53
cd07477211-449  Peptidases_S8_Subtilisin_subset
cd07490212-451  Peptidases_S8_6
cd07474209-471  Peptidases_S8_subtilisin_Vpr-like
cd07489198-491  Peptidases_S8_5
cd07482211-429  Peptidases_S8_Lantibiotic_specific_protease
cd04842204-451  Peptidases_S8_Kp43_protease
cd07473211-451  Peptidases_S8_Subtilisin_like
cd04848208-427  Peptidases_S8_Autotransporter_serine_protease_like
cd07481209-429  Peptidases_S8_BacillopeptidaseF-like
cd04077207-452  Peptidases_S8_PCSK9_ProteinaseK_like
cd05561212-464  Peptidases_S8_4
cd07493212-451  Peptidases_S8_9
cd07475202-471  Peptidases_S8_C5a_Peptidase
cd07480207-464  Peptidases_S8_12
cd07492212-429  Peptidases_S8_8
cd04059202-429  Peptidases_S8_Protein_convertases_Kexins_Furin-lik
cd07484208-453  Peptidases_S8_Thermitase_like
cd07485202-429  Peptidases_S8_Fervidolysin_like
cd04847213-421  Peptidases_S8_Subtilisin_like_2
cd07498212-440  Peptidases_S8_15
cd07478343-455  Peptidases_S8_CspA-like
cd07494190-438  Peptidases_S8_10
cd07496211-440  Peptidases_S8_13
cd04857249-453  Peptidases_S8_Tripeptidyl_Aminopeptidase_II
cd07476202-453  Peptidases_S8_thiazoline_oxidase_subtilisin-like_p
cd04852245-450  Peptidases_S8_3
cd07497209-450  Peptidases_S8_14
cd05562249-473  Peptidases_S53_like
cd07488234-427  Peptidases_S8_2
cd07483246-429  Peptidases_S8_Subtilisin_Novo-like
cd04843203-450  Peptidases_S8_11
pfam14258651-724  DUF4350
cl21634651-724  ABC_transp_aux superfamily
pfam00082214-466  Peptidase_S8
COG1404192-526  AprE
TIGR03921197-471  T7SS_mycosin
TIGR03895328-451  protease_PatA


Ontology Information


   
HPRD ID9678
Molecular ClassProtease
Molecular FunctionDNA binding (GO:0003677); Transcription regulator activity (GO:0030528)
Biological ProcessCell communication (GO:0007154); Signal transduction (GO:0007165)  



SNP Information


View SNP Geneview Report   

Drug Information


No matching records could be found.

External Links


                                 
ArrayExpressGO
ICGCGO
Cancer3DGO
COSMICGO
NCGGO
TSGeneGO
Tumor Gene Family of DatabasesGO
CCDBGO
G2SBCGO
Osteosarcoma DatabaseGO
RCDBGO