InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: LEPRE1

Summary

InnateDB Protein

IDBP-97256.7

Last Modified

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

Gene Symbol

LEPRE1

Protein Name

leucine proline-enriched proteoglycan (leprecan) 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000236040

InnateDB Gene

IDBG-97252 (LEPRE1)

Protein Structure

UniProt Annotation

Function

Basement membrane-associated chondroitin sulfate proteoglycan (CSPG). Has prolyl 3-hydroxylase activity catalyzing the post-translational formation of 3-hydroxyproline in -Xaa-Pro- Gly- sequences in collagens, especially types IV and V. May be involved in the secretory pathway of cells. Has growth suppressive activity in fibroblasts. {ECO:0000269PubMed:10951563}.

Subcellular Localization

Isoform 1: Endoplasmic reticulum.Secreted, extracellular space, extracellular matrix {ECO:0000250}. Note=Secreted into the extracellular matrix as a chondroitin sulfate proteoglycan (CSPG). {ECO:0000269PubMed:19088120}.

Disease Associations

Osteogenesis imperfecta 8 (OI8) [MIM:610915]: A form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI8 is characterized by disproportionate short stature, severe osteoporosis, shortening of the long bones, white sclerae, a round face and a short barrel- shaped chest. {ECO:0000269PubMed:17277775, ECO:0000269PubMed:19088120}. Note=The disease is caused by mutations affecting the gene represented in this entry. A splice site mutation leading to the absence of isoform 1 has been reported in 2 OI8 patients. Isoform 1 is the only form predicted to be located in the endoplasmic reticulum, which the appropriate location for the catalysis of collagen hydroxylation. These patients show indeed severely reduced COL1A1 hydroxylation (PubMed:19088120). {ECO:0000269PubMed:19088120}.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 51 experimentally validated interaction(s) in this database.

Experimentally validated
Total	51 [view]
Protein-Protein	51 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003674	molecular_function
GO:0005506	iron ion binding
GO:0005518	collagen binding
GO:0016491	oxidoreductase activity
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
GO:0016706	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors
GO:0019797	procollagen-proline 3-dioxygenase activity
GO:0031418	L-ascorbic acid binding
GO:0032403	protein complex binding

Biological Process

GO:0006457	protein folding
GO:0008285	negative regulation of cell proliferation
GO:0016049	cell growth
GO:0018126	protein hydroxylation
GO:0019511	peptidyl-proline hydroxylation
GO:0030198	extracellular matrix organization
GO:0030199	collagen fibril organization
GO:0030278	regulation of ossification
GO:0032963	collagen metabolic process
GO:0050708	regulation of protein secretion
GO:0050821	protein stabilization
GO:0055114	oxidation-reduction process
GO:0060348	bone development
GO:0061077	chaperone-mediated protein folding
GO:1901874	negative regulation of post-translational protein modification

Cellular Component

GO:0005578	proteinaceous extracellular matrix
GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005783	endoplasmic reticulum
GO:0005788	endoplasmic reticulum lumen
GO:0016020	membrane
GO:0032991	macromolecular complex
GO:0070062	extracellular vesicular exosome