Expression of MBTPS1 in cancer - Summary

GENERAL INFORMATION
Gene name	MBTPS1
Gene description	Membrane-bound transcription factor peptidase, site 1
Protein class	Enzymes Predicted intracellular proteins Predicted membrane proteins
Predicted localization	Intracellular,Membrane
Number of transcripts	4
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HUMAN PROTEIN ATLAS INFORMATION

RNA category

TCGA (cancer tissue):	Expressed in all
HPA (cell line):	Expressed in all
HPA (normal tissue):	Expressed in all

Protein evidence

Evidence at protein level

Protein expression
normal tissue

Cytoplasmic expression in several cell types, most abundant in glandular cells and striated muscle.

ANTIBODY IHC RELIABILITY
Data reliability description	Antibody staining mainly consistent with RNA expression data.
Reliability score	Supported based on 1 antibody. HPA056109
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PROGNOSTIC SUMMARY
Prognostic marker in renal cancer (favourable).
Renal cancer p<0.001 Show all

RNA EXPRESSION OVERVIEW
TCGA dataset RNA cancer category: Expressed in all

PROTEIN EXPRESSION

STAINING SUMMARY

HPA056109

GENE INFORMATION
Gene name	MBTPS1 (HGNC Symbol)
Synonyms	KIAA0091, PCSK8, S1P, SKI-1
Description	Membrane-bound transcription factor peptidase, site 1 (HGNC Symbol)
Entrez gene summary	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
Cytoband
Chromosome location (bp)	84053761 - 84116906
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000140943 (version 83.38)
Entrez gene	8720
UniProt	Q14703 (UniProt - Evidence at protein level)
neXtProt	NX_Q14703
Antibodypedia	MBTPS1 antibodies

PROTEIN BROWSER

MBTPS1-001	MBTPS1-009	MBTPS1-011	MBTPS1-014

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
MBTPS1-001 ENSP00000344223 ENST00000343411	Q14703 [Direct mapping] Membrane-bound transcription factor site-1 protease Show all	Enzymes ENZYME proteins Hydrolases Peptidases Serine-type peptidases Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0000139 [Golgi membrane] GO:0004175 [endopeptidase activity] GO:0004252 [serine-type endopeptidase activity] GO:0005788 [endoplasmic reticulum lumen] GO:0005789 [endoplasmic reticulum membrane] GO:0005794 [Golgi apparatus] GO:0005795 [Golgi stack] GO:0006508 [proteolysis] GO:0006629 [lipid metabolic process] GO:0007040 [lysosome organization] GO:0008203 [cholesterol metabolic process] GO:0016021 [integral component of membrane] GO:0030968 [endoplasmic reticulum unfolded protein response] GO:0031293 [membrane protein intracellular domain proteolysis] GO:0034976 [response to endoplasmic reticulum stress] GO:0036500 [ATF6-mediated unfolded protein response] GO:0042990 [regulation of transcription factor import into nucleus] GO:0044267 [cellular protein metabolic process] GO:0044281 [small molecule metabolic process] Show all	1052 aa 117.7 kDa	Yes	1
MBTPS1-009 ENSP00000456553 ENST00000569907	H3BS61 [Direct mapping] Membrane-bound transcription factor site-1 protease Show all	SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005794 [Golgi apparatus] GO:0006629 [lipid metabolic process] Show all	16 aa 1.9 kDa	No	0
MBTPS1-011 ENSP00000457954 ENST00000570012	H3BV53 [Direct mapping] Membrane-bound transcription factor site-1 protease Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0004252 [serine-type endopeptidase activity] GO:0005794 [Golgi apparatus] GO:0006508 [proteolysis] GO:0006629 [lipid metabolic process] Show all	146 aa 16 kDa	No	0
MBTPS1-014 ENSP00000481088 ENST00000562788	A0A087WXJ6 [Direct mapping] Membrane-bound transcription factor site-1 protease Show all	Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins TMHMM predicted membrane proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0004252 [serine-type endopeptidase activity] GO:0005794 [Golgi apparatus] GO:0006508 [proteolysis] GO:0006629 [lipid metabolic process] GO:0016021 [integral component of membrane] Show all	134 aa 14.5 kDa	No	0