InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PLOD1

Summary

InnateDB Protein

IDBP-89923.6

Last Modified

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

Gene Symbol

PLOD1

Protein Name

procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1

Synonyms

EDS6; LH; LH1; LLH; PLOD;

Species

Homo sapiens

Ensembl Protein

ENSP00000196061

InnateDB Gene

IDBG-89921 (PLOD1)

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

Ehlers-Danlos syndrome 6 (EDS6) [MIM:225400]: A connective tissue disorder characterized by generalized joint hypermobility, hyperextensible skin, atrophic cutaneous scars due to tissue fragility, progressive kyphoscoliosis already present at birth, ocular manifestations, arterial rupture, easy bruising, severe neonatal muscle hypotonia and delayed motor development. {ECO:0000269PubMed:10686424, ECO:0000269PubMed:15666309, ECO:0000269PubMed:15854030, ECO:0000269PubMed:15979919, ECO:0000269PubMed:8163671, ECO:0000269PubMed:9617436}. 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 36 experimentally validated interaction(s) in this database.

Experimentally validated
Total	36 [view]
Protein-Protein	36 [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: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:0042803	protein homodimerization activity

Biological Process

GO:0001666	response to hypoxia
GO:0006464	cellular protein modification process
GO:0008544	epidermis development
GO:0030198	extracellular matrix organization
GO:0046947	hydroxylysine biosynthetic process
GO:0055114	oxidation-reduction process