Cell atlas - MBTPS2 - The Human Protein Atlas

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MBTPS2

TISSUE

CELL

PATHOLOGY

CELL ATLAS RNA EXPRESSION HUMAN CELLS

GENE/PROTEIN

Antibody validation

Dictionary
	Cytosol
	Mitochondria
	Nucleoplasm

Human cell
	Cytosol
	Mitochondria
	Nucleoplasm

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GENERAL INFORMATION
Gene name	MBTPS2
Gene description	Membrane-bound transcription factor peptidase, site 2
Protein class	Disease related genes Enzymes Potential drug targets Predicted membrane proteins
Predicted localization	Membrane
Number of transcripts	2
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HUMAN PROTEIN ATLAS INFORMATION
Summary	Localized to the cytosol, mitochondria & nucleoplasm.
RNA cell category	Expressed in all
Protein evidence	Evidence at protein level
Main location	Localized to the Nucleoplasm (approved), Mitochondria (approved), Cytosol (approved)

DATA RELIABILITY
Reliability score	Approved based on 1 antibody. CAB009486
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ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Localized to the cytosol, mitochondria & nucleoplasm.

Main location

Nucleoplasm (approved), Mitochondria (approved), Cytosol (approved)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location	Single-cell variation	Cell cycle dependent variation
	CAB009486	A-431	Nucleoplasm
	CAB009486	A-431	Mitochondria
	CAB009486	A549	Nucleoplasm
			Mitochondria
			Cytosol
	CAB009486	U-2 OS	Nucleoplasm
			Mitochondria
			Cytosol

GENE INFORMATION
Gene name	MBTPS2 (HGNC Symbol)
Synonyms	KFSD, S2P
Description	Membrane-bound transcription factor peptidase, site 2 (HGNC Symbol)
Entrez gene summary	This gene encodes a intramembrane zinc metalloprotease, which is essential in development. This protease functions in the signal protein activation involved in sterol control of transcription and the ER stress response. Mutations in this gene have been associated with ichthyosis follicularis with atrichia and photophobia (IFAP syndrome); IFAP syndrome has been quantitatively linked to a reduction in cholesterol homeostasis and ER stress response.[provided by RefSeq, Aug 2009]
Chromosome	X
Cytoband	p22.12
Chromosome location (bp)	21839636 - 21885424
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000012174 (version 83.38)
Entrez gene	51360
UniProt	O43462 (UniProt - Evidence at protein level)
neXtProt	NX_O43462
Antibodypedia	MBTPS2 antibodies

PROTEIN BROWSER

MBTPS2-001	MBTPS2-002

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
MBTPS2-001 ENSP00000368798 ENST00000379484	O43462 [Direct mapping] Membrane-bound transcription factor site-2 protease Show all	Enzymes ENZYME proteins Hydrolases Peptidases Metallopeptidases 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 7TM proteins predicted by MDM Disease related genes Potential drug targets Show all	GO:0000139 [Golgi membrane] GO:0004222 [metalloendopeptidase activity] GO:0005515 [protein binding] GO:0005737 [cytoplasm] GO:0006508 [proteolysis] 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:0044267 [cellular protein metabolic process] GO:0044281 [small molecule metabolic process] GO:0046872 [metal ion binding] GO:0051091 [positive regulation of sequence-specific DNA binding transcription factor activity] GO:1990440 [positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress] Show all	519 aa 57.4 kDa	No	7
MBTPS2-002 ENSP00000368796 ENST00000365779	B9ZVQ3 [Direct mapping] Membrane-bound transcription factor site-2 protease Show all	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 5TM proteins predicted by MDM Show all	GO:0004222 [metalloendopeptidase activity] GO:0005515 [protein binding] GO:0006508 [proteolysis] GO:0016021 [integral component of membrane] Show all	330 aa 36.4 kDa	No	5

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.