Description: Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1), mRNA. RefSeq Summary (NM_000302): Lysyl hydroxylase is a membrane-bound homodimeric protein localized to the cisternae of the 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 VI have deficiencies in lysyl hydroxylase activity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]. Transcript (Including UTRs) Position: hg19 chr1:11,994,724-12,035,599 Size: 40,876 Total Exon Count: 19 Strand: + Coding Region Position: hg19 chr1:11,994,837-12,034,865 Size: 40,029 Coding Exon Count: 19
ID:PLOD1_HUMAN DESCRIPTION: RecName: Full=Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1; EC=1.14.11.4; AltName: Full=Lysyl hydroxylase 1; Short=LH1; 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. SUBCELLULAR LOCATION: Rough endoplasmic reticulum membrane; Peripheral membrane protein; Lumenal side. DISEASE: Defects in PLOD1 are the cause of Ehlers-Danlos syndrome type 6 (EDS6) [MIM:225400]. EDS is a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDS6 is characterized by the presence of ocular complications, particularly retinal detachment. DISEASE: Defects in PLOD1 are the cause of Nevo syndrome (NEVOS) [MIM:601451]. This is a rare, autosomal recessive disorder characterized by increased perinatal length, kyphosis, muscular hypotonia, and joint laxity. Nevo syndrome and EDS-VI have similar clinical phenotypes. Some authors consider that both syndromes are the same clinical entity. SIMILARITY: Contains 1 Fe2OG dioxygenase domain. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PLOD1";
bone density Spotila, L. D. et al. 2003, Association Analysis of Bone Mineral Density and Single Nucleotide Polymorphisms in Two Candidate Genes on Chromosome 1p36, Calcified tissue international. 2003 Aug;73(2):140-6.
[PubMed 14565595]
These findings strengthen the potential importance of chromosome 1p36.2-1p36.3 in contributing to BMD variation, and are consistent with genetic variation in either PLOD1, TNFRSF1B or nearby genes playing a role in the phenotype.
bone density Yamada, Y. et al. 2007, Association of candidate gene polymorphisms with bone mineral density in community-dwelling Japanese women and men, Int J Mol Med 2007 19(5) 791-801.
[PubMed 17390085]
bone density Tasker, P. N. et al. 2006, Association of PLOD1 polymorphisms with bone mineral density in a population-based study of women from the UK, Osteoporos Int 2006 17(7) 1078-85.
[PubMed 16758144]
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 Q02809
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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.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: 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:0031418 L-ascorbic acid binding GO:0042803 protein homodimerization activity GO:0046872 metal ion binding GO:0051213 dioxygenase activity GO:0033823 procollagen glucosyltransferase activity
Biological Process: GO:0001666 response to hypoxia GO:0006464 cellular protein modification process GO:0008544 epidermis development GO:0017185 peptidyl-lysine hydroxylation GO:0046947 hydroxylysine biosynthetic process GO:0055114 oxidation-reduction process GO:0006493 protein O-linked glycosylation
US Server
