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FLASH GENE

Symbol

PLOD3

contributors: mct - updated : 20-06-2018

HGNC name	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
HGNC id	9083

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SCDEDS2 spondylocheiro dysplastic form of the Ehlers-Danlos syndrome 2
Location	7q22.1      Physical location : 100.849.258 - 100.861.011
Synonym name	lysyl hydroxylase, isoform 3
Synonym symbol(s)	LH3
EC.number	1.14.11.4

DNA

TYPE	functioning gene
SPECIAL FEATURE	head to head
STRUCTURE	11.75 kb     19 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001084 19 - 2995 NP_001075 82.4 738 - 2016 27435297

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Endocrine pancreas         Lymphoid/Immune spleen       highly Reproductive female system ovary     highly Skin/Tegument skin       highly

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminal domain possessing trace amount of glycosyltransferase activity
	a glycosyltransferase (GT/GGT) domain (25–280), which is responsible for GT/GGT activities and has structural similarities with glycosyltransferases
	a C terminal catalytic domain

conjugated

GlycoP

mono polymer

homomer , dimer

HOMOLOGY

interspecies

homolog to murine Plod3

Homologene

FAMILY

lysyl hydroxylase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
text	abundant PLOD3 localising to the basement membrane in normal skin

basic FUNCTION	catalyzing the hydroxylation of lysyl residues in collagenous sequences
	multifunctional enzyme capable of catalyzing hydroxylation of lysyl residues and O-glycosylation of hydroxylysyl residues producing either monosaccharide (Gal) or disaccharide (Glc-Gal) derivatives
	collagen galactosyltransferase activity (Risteli 2009)
	is the multifunctional collagen-modifying enzyme possessing LH, hydroxylysine galactosyltransferase (GT), and galactosylhydroxylysine-glucosyltransferase (GGT) activities
	major function of PLOD3 in osteoblasts is to glucosylate galactosylhydroxylysine residues in type I collagen and impairment of this PLOD3 function significantly affects type I collagen fibrillogenesis
	PLOD3 is an important regulator of adiponectin biosynthesis, secretion and activity
	modulates cancer progression and metastasis

CELLULAR PROCESS

protein, post translation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

FKBP10 forms complexes with PLOD2 splice variants LH2A and LH2B but not with PLOD1 and PLOD3

INTERACTION

DNA

RNA

small molecule	metal binding,
	iron Fe2+
	ascorbate

protein	modifies the lysine residues in the collagenous domain of adiponectin, which has important roles in glucose and lipid metabolism and inflammation
	recruitment of MMP9 to the fibroblast cell surface occurs through its fibronectin-like (FN) domain and the molecule responsible for the recruitment is PLOD3
	VIPAS39, with its partner proteins, regulate sorting of PLOD3 into newly identified post-Golgi collagen IV carriers and VIPAS39-dependent sorting is essential for modification of lysines in multiple collagen types

cell & other

REGULATION

Other

regulation of post-Golgi PLOD3 trafficking is essential for collagen homeostasis and for the development and function of multiple organs and tissues

ASSOCIATED DISORDERS

corresponding disease(s)

SCDEDS2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral       gain of function in glioma tissues compared to normal brain tissues, and correlated with negative survival constitutional       loss of function in Recessive dystrophic epidermolysis bullosa

Susceptibility

Variant & Polymorphism

Candidate gene	might be a potential candidate for therapeutic applications in diseases associated with obesity and insulin resistance
Marker
Therapy target
	System Type Disorder Pubmed cancer brain glioma/neuroblstoma is a potential therapeutic target in human gliomas

ANIMAL & CELL MODELS