InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PLOD3

Summary

InnateDB Protein

IDBP-33149.6

Last Modified

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

Gene Symbol

PLOD3

Protein Name

procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3

Synonyms

LH3;

Species

Homo sapiens

Ensembl Protein

ENSP00000223127

InnateDB Gene

IDBG-33147 (PLOD3)

Protein Structure

UniProt Annotation

Function

Forms hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens. These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular collagen cross-links.

Subcellular Localization

Rough endoplasmic reticulum membrane; Peripheral membrane protein; Lumenal side.

Disease Associations

Lysyl hydroxylase 3 deficiency (LH3 deficiency) [MIM:612394]: Connective tissue disorder. The syndrome is characterized by congenital malformations severely affecting many tissues and organs and revealing features of several collagen disorders, most of them involving COL2A1 (type II collagen). The findings suggest that the failure of lysyl hydroxylation and hydroxylysyl carbohydrate addition, which affects many collagens, is the molecular basis of this syndrome. {ECO:0000269PubMed:18834968}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 29 experimentally validated interaction(s) in this database.

Experimentally validated
Total	29 [view]
Protein-Protein	26 [view]
Protein-DNA	3 [view]
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:0005515	protein binding
GO:0008475	procollagen-lysine 5-dioxygenase activity
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:0031418	L-ascorbic acid binding
GO:0033823	procollagen glucosyltransferase activity
GO:0050211	procollagen galactosyltransferase activity

Biological Process

GO:0001701	in utero embryonic development
GO:0001886	endothelial cell morphogenesis
GO:0006464	cellular protein modification process
GO:0008104	protein localization
GO:0021915	neural tube development
GO:0030198	extracellular matrix organization
GO:0030199	collagen fibril organization
GO:0032870	cellular response to hormone stimulus
GO:0042311	vasodilation
GO:0048730	epidermis morphogenesis
GO:0055114	oxidation-reduction process
GO:0060425	lung morphogenesis
GO:0070831	basement membrane assembly

Cellular Component

GO:0005783	endoplasmic reticulum
GO:0005789	endoplasmic reticulum membrane
GO:0030867	rough endoplasmic reticulum membrane
GO:0070062	extracellular vesicular exosome