InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MBTPS2

Summary

InnateDB Protein

IDBP-51396.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MBTPS2

Protein Name

membrane-bound transcription factor peptidase, site 2

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000368798

InnateDB Gene

IDBG-51394 (MBTPS2)

Protein Structure

UniProt Annotation

Function

Intramembrane proteolysis of sterol-regulatory element- binding proteins (SREBPs) within the first transmembrane segment thereby releasing the N-terminal segment with a portion of the transmembrane segment attached. Site-2 cleavage comes after site-1 cleavage which takes place in the lumenal loop.

Subcellular Localization

Membrane {ECO:0000305PubMed:19361614}; Multi-pass membrane protein {ECO:0000305PubMed:19361614}. Cytoplasm {ECO:0000269PubMed:19361614}.

Disease Associations

IFAP syndrome with or without BRESHECK syndrome (IFAPS) [MIM:308205]: A syndrome characterized by a peculiar triad of follicular ichthyosis, total or subtotal atrichia, and photophobia of varying degree. Histopathologically, the epidermal granular layer is generally well-preserved or thickened at the infundibulum. Hair follicles are poorly developed and tend to be surrounded by an inflammatory infiltrate. A subgroup of patients is described with lamellar rather than follicular ichthyosis. Non- consistent features may include growth and psychomotor retardation, aganglionic megacolon, seizures and nail dystrophy. {ECO:0000269PubMed:19361614}. Note=The disease is caused by mutations affecting the gene represented in this entry.Keratosis follicularis spinulosa decalvans X-linked (KFSDX) [MIM:308800]: A rare disorder affecting the skin and the eye. Affected men show thickening of the skin of the neck, ears, and extremities, especially the palms and soles, loss of eyebrows, eyelashes and beard, thickening of the eyelids with blepharitis and ectropion, and corneal degeneration. {ECO:0000269PubMed:20672378}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in heart, brain, placenta, lung, liver, muscle, kidney and pancreas.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004222	metalloendopeptidase activity
GO:0005515	protein binding
GO:0046872	metal ion binding

Biological Process

GO:0006508	proteolysis
GO:0006987	activation of signaling protein activity involved in unfolded protein response
GO:0008203	cholesterol metabolic process
GO:0030968	endoplasmic reticulum unfolded protein response
GO:0044267	cellular protein metabolic process
GO:0044281	small molecule metabolic process