Description: Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 (PLOD3), mRNA. RefSeq Summary (NM_001084): The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VIB have deficiencies in lysyl hydroxylase activity. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr7:100,849,258-100,861,011 Size: 11,754 Total Exon Count: 19 Strand: - Coding Region Position: hg19 chr7:100,849,562-100,860,555 Size: 10,994 Coding Exon Count: 19
ID:PLOD3_HUMAN DESCRIPTION: RecName: Full=Procollagen-lysine,2-oxoglutarate 5-dioxygenase 3; EC=1.14.11.4; AltName: Full=Lysyl hydroxylase 3; Short=LH3; Flags: Precursor; 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. CATALYTIC ACTIVITY: L-lysine-[procollagen] + 2-oxoglutarate + O(2) = (2S,5R)-5-hydroxy-L-lysine-[procollagen] + succinate + CO(2). COFACTOR: Iron. COFACTOR: Ascorbate. SUBUNIT: Homodimer. INTERACTION: Q9BQY4:RHOXF2; NbExp=2; IntAct=EBI-741582, EBI-372094; SUBCELLULAR LOCATION: Rough endoplasmic reticulum membrane; Peripheral membrane protein; Lumenal side. DISEASE: Defects in PLOD3 are the cause of lysyl hydroxylase 3 deficiency (LH3 deficiency) [MIM:612394]; also known as bone fragility with contractures arterial rupture and deafness. LH3 deficiency is a 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. SIMILARITY: Contains 1 Fe2OG dioxygenase domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O60568
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
