PLOD1 Gene Summary [Human]
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]
Details
| Type | Processed Transcript |
| Official Symbol | PLOD1 |
| Official Name | procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 [Source:HGNC Symbol;Acc:HGNC:9081] |
| Ensembl ID | ENSG00000083444 |
| Bio databases IDs | |
| Aliases | procollagen-lysine,2-oxoglutarate 5-dioxygenase 1, lysyl hydroxlase 1, procollagen lysyl hydroxylase 1 |
| Synonyms | 2410042F05Rik, EDS6, EDSKCL1, LH, LH1, LLH, LOC100130069, Lysyl hydroxylase 1, PLOD, procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PLOD1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ferrous iron binding
- peptide binding
- vitamin binding
- monosaccharide binding
- binding protein
- GT_LH
- procollagen-lysine 5-dioxygenase
- enzyme
- protein binding
- 2OG-Fe(II) oxygenase superfamily
- Prolyl 4-hydroxylase alpha subunit homologues
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- Ehlers-Danlos syndrome type VI
- familial thoracic aortic aneurysms and dissections
- organismal death
- Ehlers-Danlos syndrome
- aortic dissection
- colorectal cancer
- motor dysfunction or movement disorder
- metastasis
- keratoconus
role in cell
- degradation in
- morphology
- invasion by
- migration
- cell survival
- loss in
- polymerization in
- abnormal morphology
- degeneration
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- pH resistant lipid raft fraction
- detergent resistant lipid raft fraction
- lysosome
- endoplasmic reticulum membrane
- rough endoplasmatic reticulum
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PLOD1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- response to hypoxia
- protein O-linked glycosylation
- peptidyl-lysine hydroxylation
- epidermis development
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- extracellular vesicular exosome
- rough endoplasmic reticulum membrane
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- L-ascorbic acid binding
- protein binding
- iron ion binding
- procollagen-lysine 5-dioxygenase activity
- procollagen glucosyltransferase activity