PLOD3 - procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 Gene

Homo sapiens

Also known as LH3

Gene ID: 8985 | Gene type: protein coding

About PLOD3

Cytogenetic location: 7q22.1 Genomic coordinates (GRCh38): 7:101,205,984-101,217,581 (from NCBI)

This gene has 16 transcripts (splice variants), 184 orthologues, 5 paralogues and is associated with 3 phenotypes. Ubiquitous expression in placenta (RPKM 21.7), endometrium (RPKM 12.9) and 25 other tissues.

Summary

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]

PLOD3 Products(1)

mRNA	Protein	Name
NM_001084.5	NP_001075.1	multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables iron ion binding	EXP EXP: Inferred from Experiment	30089812	GOA
enables metal ion binding	EXP EXP: Inferred from Experiment	30089812	GOA
enables procollagen galactosyltransferase activity	IMP IMP: Inferred from mutant phenotype	18298658	GOA
enables procollagen glucosyltransferase activity	IMP IMP: Inferred from mutant phenotype	10934207	GOA
enables procollagen-lysine 5-dioxygenase activity	IDA IDA: Inferred from direct assay	9582318	GOA
enables procollagen-lysine 5-dioxygenase activity	IMP IMP: Inferred from mutant phenotype	10934207	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA
enables small molecule binding	EXP EXP: Inferred from Experiment	30089812	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in peptidyl-lysine hydroxylation	IDA IDA: Inferred from direct assay	9582318	GOA
involved in peptidyl-lysine hydroxylation	IMP IMP: Inferred from mutant phenotype	10934207	GOA
involved in protein O-linked glycosylation	IMP IMP: Inferred from mutant phenotype	10934207	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	10934207	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	10934207	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PLOD3 Protein Structure

2OG-FeII_Oxy

0
200
400
600
738 a.a.

Protein Preferred Names

Protein Names

multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3

lysine hydroxylase 3

Related Diseases

Diseases

Alias

Bone Fragility With Contractures, Arterial Rupture, And Deafness

Lysyl Hydroxylase 3 Deficiency	LH3 DEFICIENCY
BCARD	Connective Tissue Disorder Due To Lysyl Hydroxylase-3 Deficiency
Bone Fragility-Contractures-Arterial Rupture-Deafness Syndrome	Bone Fragility-Contractures-Arterial Rupture-Hearing Loss Syndrome
Connective Tissue Disorder Due To Lh3 Deficiency	Bone Fragility With Contractures Arterial Rupture And Deafness

Ehlers-Danlos Syndrome

Eds	Cutis Hyperelastica
Elastic Skin	Ehlers-Danlos Syndromes
Ed Syndrome	Ehlers Danlos Syndrome
Ehlers Danlos Disease	Eds - [Ehlers-Danlos Syndrome]

Bruck Syndrome

Osteogenesis Imperfecta With Congenital Joint Contractures

Osteogenesis Imperfecta-Congenital Joint Contractures Syndrome

Epidermolysis Bullosa

Acantholysis Bullosa

Glutathionuria

Gamma-Glutamyltransferase Deficiency	Ggt Deficiency
Gtg Deficiency	Gamma-Glutamyltranspeptidase Deficiency
Glutathioninuria	Gamma-Glutamyl Transpeptidase Deficiency
Gamma-Glutamyl Transferase Deficiency	Ggt1 Deficiency
GLUTH

Epidermolysis Bullosa Dystrophica

Dystrophic Epidermolysis Bullosa	Deb
Dermolytic Epidermolysis Bullosa	Epidermolysis Bullosa, Dermolytic
Epidermolysis Bullosa, Dystrophic	Epidermolysis Bullosa Dystrophic
Dystrophic Eb - [Epidermolysis Bullosa]

Recessive Dystrophic Epidermolysis Bullosa

Autosomal Recessive Dystrophic Epidermolysis Bullosa Generalisata Gravis	Autosomal Recessive Dystrophic Epidermolysis Bullosa, Hallopeau-Siemens Type
Rdeb, Hallopeau-Siemens Type	Severe Generalized Rdeb
Severe Generalized Recessive Dystrophic Epidermolysis Bullosa	Rdeb Generalisata Gravis
Rdeb, Severe Generalized	Rdeb-Sev Gen
Recessive Dystrophic Epidermolysis Bullosa, Severe Generalized	Hallopeau-Siemens Disease

Brittle Bone Disorder

Osteogenesis Imperfecta	Brittle Bone Disease
Fragilitas Ossium	Osteopsathyrosis
Lobstein Disease	Oi
Vrolik Disease	Lobstein'S Disease
Lobstein'S Syndrome	Vrolik'S Disease
Porak And Durante Disease	Glass Bone Disease
Osteogenesis Imperfecta, Dominant Perinatal Lethal	Osteogenesis Imperfecta, Recessive Perinatal Lethal
Brittle Bone Syndrome	Oi - [Osteogenesis Imperfecta]
Ossium Fragility	Osteitis Fragilitans
Bony Fragility	Blue Sclera With Fragility Of Bone And Deafness
White Blue Sclera - Fragility Of Bone - Deafness

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10730	PLOD3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	PLOD3	VGNC	VGNC:33041
Canis familiaris	PLOD3	VGNC	VGNC:44703
Felis catus	PLOD3	VGNC	VGNC:68909
Mus musculus	PLOD3	MGD	MGI:1347008
Macaca mulatta	PLOD3	VGNC	VGNC:76177
Rattus norvegicus	PLOD3	RGD	RGD:631339

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