PLOD3 Gene Summary [Human]
The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough 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 VIB have deficiencies in lysyl hydroxylase activity. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | PLOD3 |
| Official Name | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 [Source:HGNC Symbol;Acc:HGNC:9083] |
| Ensembl ID | ENSG00000106397 |
| Bio databases IDs | |
| Aliases | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3, lysyl hydroxlase 3, Multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3 |
| Synonyms | BCARD, LH3, procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 |
| 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 PLOD3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- binding protein
- procollagen galactosyltransferase
- GT_LH
- metal ion binding
- procollagen-lysine 5-dioxygenase
- procollagen glucosyltransferase
- iron ion binding
- 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
- lysyl hydroxylase 3 deficiency
- cerebral hemorrhage
- colorectal cancer
- colorectal neoplasm
- colorectal neoplasia
- growth failure
- SERPINH1 R222S mutation positive severe osteogenesis imperfecta
- cerebral amyloid angiopathy
- intrauterine growth retardation
- infection by HIV-1
role in cell
- formation
- organization
- abnormal morphology
- fragmentation
- hydroxylation in
- network formation in
- morphogenesis
- assembly
- diameter
- fibrillogenesis
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
- cell surface
- Extracellular Space
- Golgi Apparatus
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
- vitreal membranes
- trans Golgi network
- photoreceptor inner segments
- rough endoplasmatic reticulum
- extracellular matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PLOD3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neural tube development
- hydroxylysine biosynthetic process
- protein O-linked glycosylation
- protein localization
- vasodilation
- lung morphogenesis
- endothelial cell morphogenesis
- epidermis morphogenesis
- in utero embryonic development
- peptidyl-lysine hydroxylation
- basement membrane assembly
- collagen fibril organization
- collagen metabolic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- endoplasmic reticulum lumen
- trans-Golgi network
- extracellular space
- extracellular vesicular exosome
- rough endoplasmic reticulum
- Golgi apparatus
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- procollagen galactosyltransferase activity
- L-ascorbic acid binding
- protein binding
- iron ion binding
- metal ion binding
- small molecule binding
- procollagen-lysine 5-dioxygenase activity
- procollagen glucosyltransferase activity