PLOD1: Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 1
Key enzyme in collagen cross-linking and Ehlers-Danlos syndrome kyphoscoliotic type
Gene Information Card
| Symbol | PLOD1 |
|---|---|
| Full Name | Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.22 |
| NCBI Gene ID | 5351 ncbi.nlm.nih.gov/gene/5351 |
| Ensembl ID | ENSG00000083444 |
| UniProt ID | Q02809 |
| OMIM ID | 153454 |
| HGNC ID | 9081 |
| Aliases | LH1, LH, LLH, PLOD |
Description
PLOD1 encodes lysyl hydroxylase 1 (LH1), a membrane-bound homodimeric enzyme localized to the endoplasmic reticulum. It catalyzes the hydroxylation of lysine residues in collagen telopeptides and helical domains, a critical step for collagen cross-link formation and stability. Deficiency leads to underhydroxylated collagen, causing connective tissue fragility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ehlers-Danlos syndrome kyphoscoliotic type 1 (EDS VIA) | Biallelic loss-of-function mutations in PLOD1 reduce lysyl hydroxylase activity, impairing collagen cross-linking and leading to joint hypermobility, skin hyperextensibility, kyphoscoliosis, and ocular fragility. | OMIM #225400; ClinVar |
| Ehlers-Danlos syndrome, kyphoscoliotic type, autosomal recessive | Same mechanism as above; over 30 pathogenic variants reported. | ClinVar; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Skeletal Muscle | 9.8 | Medium |
| Liver | 7.5 | Low |
| Lung | 6.2 | Low |
| Kidney | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Fibroblast | 15.2 | High expression; primary site of collagen synthesis |
| Osteoblast | 11.0 | High expression; bone matrix production |
| Chondrocyte | 9.5 | Medium expression; cartilage collagen |
| Hepatocyte | 6.8 | Low expression; minor collagen production |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1370G>A (p.Arg457His) | Missense | Rare | Loss of function; reduced enzyme activity |
| c.1082delC (p.Pro361Leufs*2) | Frameshift | Rare | Loss of function; premature truncation |
| c.1850G>A (p.Arg617Gln) | Missense | Rare | Loss of function; impaired dimerization |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; no protein synthesis |
Mutation functional classification
Loss of Function (LOF)
Majority of PLOD1 pathogenic variants are loss-of-function (missense, nonsense, frameshift, splice-site), leading to reduced or absent lysyl hydroxylase activity.
Gain of Function (GOF)
No gain-of-function mutations reported in PLOD1.
Dominant Negative (DN)
Not described; PLOD1-related EDS is autosomal recessive, requiring biallelic loss.
View complete mutation data：
Gene Ontology (GO)
| • L-ascorbic acid binding | • iron ion binding |
| • oxidoreductase activity | • acting on single donors with incorporation of molecular oxygen |
| • procollagen-lysine 5-dioxygenase activity | • endoplasmic reticulum lumen |
| • collagen biosynthetic process | • peptidyl-lysine hydroxylation |
Pathways
• Collagen biosynthesis and modifying enzymes (Reactome: R-HSA-1650814)
• Lysine degradation (KEGG: hsa00310)
• Metabolism of proteins (Reactome: R-HSA-392499)
Protein Summary
Lysyl hydroxylase 1 (LH1) is a 727-amino acid protein with a molecular weight of ~83 kDa. It contains a conserved Fe2+-dependent dioxygenase domain and a C-terminal endoplasmic reticulum retention signal. LH1 hydroxylates lysine residues in collagen alpha chains, enabling the formation of stable intermolecular cross-links. The enzyme requires ascorbate and 2-oxoglutarate as cofactors. Homodimerization is essential for catalytic activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLOD1 Knockout HEK293 Cell Line | EDJ-KQ3159 | Human | 5351 | Details Get a Quote |
| PLOD1 Knockout A-549 Cell Line | EDJ-KQ24565 | Human | 5351 | Details Get a Quote |
| PLOD1 Knockout HCT 116 Cell Line | EDJ-KQ24566 | Human | 5351 | Details Get a Quote |
| PLOD1 Knockout HeLa Cell Line | EDJ-KQ24567 | Human | 5351 | Details Get a Quote |
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