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FLASH GENE

Symbol

PLOD1

contributors: npt/mct - updated : 20-06-2018

HGNC name	procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1
HGNC id	9081

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000302 19 - 3047 NP_000293 - 727 - 2013 23234877 NM_001316320 20 - 3188 NP_001303249 - 774 - 2013 23234877

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 Digestive esophagus       highly   mouth gingiva     highly Nervous brain         Reproductive male system prostate       Respiratory lung         Skin/Tegument skin       highly Urinary kidney       highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

prolyl/lysyl hydroxylase (PKHD) active site domain localized at the C terminus, with a signal peptide 18AA, and primary ER localization motif within a 40-amino acid segment (Suokas 2003)

mono polymer

homomer , dimer

HOMOLOGY

Homologene

FAMILY

prolyl/lysyl hydroxylase (PKHD) family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
text	peripheral membrane protein in the lumen of the endoplasmic reticulum (ER) (Suokas 2003)

basic FUNCTION	catalyses the hydroxylation of lysine residues during the posttranslational modification of type I collagen, the major protein of bone (Tasker 2006)
	PLOD1 and lysyl oxidase (LOX), contribute to ECM maturation and stabilization
	LOX and PLOD1 are critical players in vascular calcification, and important role of ECM remodeling in this process

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

sensory transduction/vision

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
	ascorbate

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

EDS6

Susceptibility

to variation of association of bone mineral density

Variant & Polymorphism other	association of polymorphisms with bone mineral density variation
	PLOD1 rs7529452 (C385T; F98F)showed significant genotypic/allelic associations with BMD, and osteoporosis

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS