Human Gene PLOD1 (uc010obb.2) Description and Page Index
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: 20 Strand: + Coding Region Position: hg19 chr1:11,994,837-12,034,865 Size: 40,029 Coding Exon Count: 20
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.
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.
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.
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 B4DR87
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
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.