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

Also Known as LH3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8985

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	References	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	References	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	References	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

PLOD3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PLOD3	O60568	EHMT2	Homo sapiens	A2ABF9	Y2H Prey Pooling	25416956
Intra	PLOD3	O60568	EHMT2	Homo sapiens	A2ABF9	Y2H Array	25416956
Intra	PLOD3	O60568	L3MBTL3	Homo sapiens	Q96JM7-2	Y2H Prey Pooling	32296183
Intra	PLOD3	O60568	L3MBTL3	Homo sapiens	Q96JM7-2	Validated Y2H	32296183
Intra	PLOD3	O60568	L3MBTL3	Homo sapiens	Q96JM7-2	Y2H Array	32296183
Intra	PLOD3	O60568	CRIP3	Homo sapiens	Q6Q6R5-3	Y2H Array	32296183
Intra	PLOD3	O60568	CRIP3	Homo sapiens	Q6Q6R5-3	Y2H Prey Pooling	32296183
Intra	PLOD3	O60568	CRIP3	Homo sapiens	Q6Q6R5-3	Validated Y2H	32296183
Intra	PLOD3	O60568	EFHC2	Homo sapiens	Q5JST6	Y2H Prey Pooling	32296183
Intra	PLOD3	O60568	EFHC2	Homo sapiens	Q5JST6	Validated Y2H	25910212
Intra	PLOD3	O60568	EFHC2	Homo sapiens	Q5JST6	Y2H Array	31515488
Intra	PLOD3	O60568	EFHC2	Homo sapiens	Q5JST6	Y2H Bait-Prey Pool	25910212
Intra	PLOD3	O60568	EFHC2	Homo sapiens	Q5JST6	Y2H Array	25910212
Intra	PLOD3	O60568	EFHC2	Homo sapiens	Q5JST6	Validated Y2H	25416956
Intra	PLOD3	O60568	EFHC2	Homo sapiens	Q5JST6	Validated Y2H	32296183
Intra	PLOD3	O60568	EFHC2	Homo sapiens	Q5JST6	Y2H Array	32296183
Intra	PLOD3	O60568	EFHC2	Homo sapiens	Q5JST6	Y2H Prey Pooling	25416956
Intra	PLOD3	O60568	COL17A1	Homo sapiens	Q9UMD9	Y2H Prey Pooling	32296183
Intra	PLOD3	O60568	COL17A1	Homo sapiens	Q9UMD9	Validated Y2H	32296183
Intra	PLOD3	O60568	COL17A1	Homo sapiens	Q9UMD9	Y2H Array	32296183
Intra	PLOD3	O60568	RHOXF2	Homo sapiens	Q9BQY4	Pull Down	16189514
Intra	PLOD3	O60568	RHOXF2	Homo sapiens	Q9BQY4	Y2H Pooling	16189514
Intra	PLOD3	O60568	ZNF620	Homo sapiens	Q6ZNG0	Y2H Prey Pooling	32296183
Intra	PLOD3	O60568	ZNF620	Homo sapiens	Q6ZNG0	Y2H Array	32296183
Intra	PLOD3	O60568	ZNF620	Homo sapiens	Q6ZNG0	Validated Y2H	32296183
Intra	PLOD3	O60568	KCTD9	Homo sapiens	Q7L273	Y2H Array	32296183
Intra	PLOD3	O60568	KCTD9	Homo sapiens	Q7L273	Validated Y2H	32296183
Intra	PLOD3	O60568	KCTD9	Homo sapiens	Q7L273	Y2H Prey Pooling	32296183
Intra	PLOD3	O60568	KHNYN	Homo sapiens	O15037	Y2H Prey Pooling	32296183
Intra	PLOD3	O60568	KHNYN	Homo sapiens	O15037	Y2H Array	32296183
Intra	PLOD3	O60568	SORBS3	Homo sapiens	O60504	Y2H Prey Pooling	32296183
Intra	PLOD3	O60568	SORBS3	Homo sapiens	O60504	Y2H Array	32296183
Intra	PLOD3	O60568	EHMT2	Homo sapiens	Q96KQ7	Validated Y2H	25910212
Intra	PLOD3	O60568	EHMT2	Homo sapiens	Q96KQ7	Y2H Array	25910212
Intra	PLOD3	O60568	EHMT2	Homo sapiens	Q96KQ7	Y2H Prey Pooling	32296183
Intra	PLOD3	O60568	EHMT2	Homo sapiens	Q96KQ7	Validated Y2H	32296183
Intra	PLOD3	O60568	EHMT2	Homo sapiens	Q96KQ7	Y2H Bait-Prey Pool	25910212
Intra	PLOD3	O60568	EHMT2	Homo sapiens	Q96KQ7	Y2H Array	32296183
Intra	PLOD3	O60568	EHMT2	Homo sapiens	Q96KQ7	Y2H Pooling	16189514
Intra	PLOD3	O60568	IP6K2	Homo sapiens	Q9UHH9	Validated Y2H	32296183
Intra	PLOD3	O60568	IP6K2	Homo sapiens	Q9UHH9	Y2H Array	32296183
Intra	PLOD3	O60568	IP6K2	Homo sapiens	Q9UHH9	Y2H Prey Pooling	32296183
Intra	PLOD3	O60568	RAB3IP	Homo sapiens	Q96QF0	Y2H Prey Pooling	25416956
Intra	PLOD3	O60568	RAB3IP	Homo sapiens	Q96QF0-2	Validated Y2H	25910212
Intra	PLOD3	O60568	RAB3IP	Homo sapiens	Q96QF0-2	Y2H Bait-Prey Pool	25910212
Intra	PLOD3	O60568	RAB3IP	Homo sapiens	Q96QF0-2	Y2H Array	25910212
Intra	PLOD3	O60568	NAB2	Homo sapiens	Q15742	Validated Y2H	32296183
Intra	PLOD3	O60568	NAB2	Homo sapiens	Q15742	Y2H Array	32296183
Intra	PLOD3	O60568	NAB2	Homo sapiens	Q15742	Y2H Prey Pooling	32296183
Intra	PLOD3	O60568	COIL	Homo sapiens	P38432	Validated Y2H	32296183
Intra	PLOD3	O60568	COIL	Homo sapiens	P38432	Y2H Array	32296183
Intra	PLOD3	O60568	COIL	Homo sapiens	P38432	Y2H Prey Pooling	32296183
Intra	PLOD3	O60568	RALY	Homo sapiens	Q53GL6	Y2H Prey Pooling	32296183
Intra	PLOD3	O60568	RALY	Homo sapiens	Q53GL6	Validated Y2H	32296183
Intra	PLOD3	O60568	RALY	Homo sapiens	Q53GL6	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

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 Eb
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

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 Set	/	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
Others	PLOD3	NCBI