Procollagen Lysine-1,2-Oxoglutarate-5-Dioxygenase 1 (PLOD1)

LLH; PLOD; LH1; Lysine Hydroxylase,Ehlers-Danlos Syndrome Type VI; Lysyl hydroxylase 1

SPN	S529
HGNC	9081
MGI	99907
PubMed	15979919
RGD	621382
UniProt	Q02809
Wiki	PLOD1

PLOD1 encode a polypeptide of 709 amino acid residues and a signal peptide of 18 amino acids. The human coding sequence shows 72% identity to the chick sequences at the nucleotide level and 76% identity at the amino acid level. The C-terminal region is especially well conserved; residues 588 to 727 show 94% identity between the 2 species and residues 639 to 715 show 99% identity. The gene for lysyl hydroxylase, symbolized PLOD (for procollagen-lysine, 2-oxoglutarate 5-dioxygenase), was mapped to chromosome 1 by Southern blot analysis of human/mouse somatic cell hybrids, to the 1pter-1p34 region by use of cell hybrids that contained various rearrangements of human chromosome 1, and to 1p36.3-p36.2 by in situ hybridization.

Reference

"Cloning of human lysyl hydroxylase: complete cDNA-derived amino acid sequence and assignment of the gene (PLOD) to chromosome 1p36.3-p36.2."
Genomics 13:62-69(1992) [PubMed] [Europe PMC] [Abstract]

"Structure and expression of the human lysyl hydroxylase gene (PLOD): introns 9 and 16 contain Alu sequences at the sites of recombination in Ehlers-Danlos syndrome type VI patients."
Genomics 24:464-471(1994) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and biological annotation of human chromosome 1."
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Site-directed mutagenesis of human lysyl hydroxylase expressed in insect cells. Identification of histidine residues and an aspartic acid residue critical for catalytic activity."
J. Biol. Chem. 271:9398-9402(1996) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"A patient with Ehlers-Danlos syndrome type VI is a compound heterozygote for mutations in the lysyl hydroxylase gene."
J. Clin. Invest. 93:1716-1721(1994) [PubMed] [Europe PMC] [Abstract]

"Ehlers-Danlos syndrome type VI: lysyl hydroxylase deficiency due to a novel point mutation (W612C)."
Arch. Dermatol. Res. 290:181-186(1998) [PubMed] [Europe PMC] [Abstract]

"Deletion of cysteine 369 in lysyl hydroxylase 1 eliminates enzyme activity and causes Ehlers-Danlos syndrome type VI."
Matrix Biol. 19:37-46(2000) [PubMed] [Europe PMC] [Abstract]

"Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA)."
Am. J. Med. Genet. A 133:158-164(2005) [PubMed] [Europe PMC] [Abstract]

"A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an Ehlers-Danlos VIA patient."
J. Invest. Dermatol. 124:914-918(2005) [PubMed] [Europe PMC] [Abstract]

"Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA)."
Mol. Genet. Metab. 86:269-276(2005) [PubMed] [Europe PMC] [Abstract]

"The consensus coding sequences of human breast and colorectal cancers."
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]