MBTPS1

GENERAL INFORMATION

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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

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

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

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data.

Data reliability

Supportive based on 1 antibody.
HPA056109
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Stomach

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

8720

UniProt

Q14703 (UniProt - Evidence at protein level)

neXtProt

NX_Q14703

Antibodypedia

MBTPS1 antibodies


PROTEIN BROWSER

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ENST00000343411
 
ENST00000562788
 
ENST00000569907
 
ENST00000570012
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

MBTPS1-001 ENSP00000344223
ENST00000343411
Q14703
Show all »
Show » Show » 1052 117.7 Yes 1
MBTPS1-009 ENSP00000456553
ENST00000569907
Show » 16 1.9 No 0
MBTPS1-011 ENSP00000457954
ENST00000570012
H3BV53
Show all »
Show » Show » 146 16 No 0
MBTPS1-014 ENSP00000481088
ENST00000562788
Show » Show » 134 14.5 No 0