InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: LEPREL1

Summary

InnateDB Protein

IDBP-69607.6

Last Modified

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

Gene Symbol

LEPREL1

Protein Name

leprecan-like 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000316881

InnateDB Gene

IDBG-69605 (LEPREL1)

Protein Structure

UniProt Annotation

Function

Shows prolyl 3-hydroxylase activity catalyzing the post- translational formation of 3-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens, especially types II, IV and V. {ECO:0000250}.

Subcellular Localization

Endoplasmic reticulum {ECO:0000255PROSITE- ProRule:PRU10138, ECO:0000269PubMed:15063763}. Golgi apparatus {ECO:0000269PubMed:15063763}.

Disease Associations

Myopia, high, with cataract and vitreoretinal degeneration (MCVD) [MIM:614292]: A disorder characterized by severe myopia with variable expressivity of cataract and vitreoretinal degeneration. Some patients manifest lens subluxation, lens instability and retinal detachment. {ECO:0000269PubMed:21885030}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in heart, placenta, lung, liver, skeletal muscle and kidney. Expression localized to the epithelia of bile ducts and to the sacroplasm of heart muscle and skeletal muscle. In the pancreas, localized to a subpopulation of Langerhans islet cells and in the salivary gland, expressed in acinar cells. {ECO:0000269PubMed:15063763}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005506	iron ion 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

Biological Process

GO:0008285	negative regulation of cell proliferation
GO:0019511	peptidyl-proline hydroxylation
GO:0030198	extracellular matrix organization
GO:0032963	collagen metabolic process
GO:0055114	oxidation-reduction process