Entity Details

Primary name PLOD3_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO60568
EntryNamePLOD3_HUMAN
FullNameMultifunctional procollagen lysine hydroxylase and glycosyltransferase LH3
TaxID9606
Evidenceevidence at protein level
Length738
SequenceStatuscomplete
DateCreated1998-12-15
DateModified2021-06-02

Ontological Relatives

GenesPLOD3

GO terms

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GOName
GO:0001701 in utero embryonic development
GO:0001886 endothelial cell morphogenesis
GO:0005506 iron ion binding
GO:0005615 extracellular space
GO:0005783 endoplasmic reticulum
GO:0005788 endoplasmic reticulum lumen
GO:0005789 endoplasmic reticulum membrane
GO:0005791 rough endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005802 trans-Golgi network
GO:0006493 protein O-linked glycosylation
GO:0008104 protein localization
GO:0008475 procollagen-lysine 5-dioxygenase activity
GO:0017185 peptidyl-lysine hydroxylation
GO:0021915 neural tube development
GO:0030199 collagen fibril organization
GO:0031418 L-ascorbic acid binding
GO:0032870 cellular response to hormone stimulus
GO:0032963 collagen metabolic process
GO:0033823 procollagen glucosyltransferase activity
GO:0042311 vasodilation
GO:0046947 hydroxylysine biosynthetic process
GO:0048730 epidermis morphogenesis
GO:0050211 procollagen galactosyltransferase activity
GO:0060425 lung morphogenesis
GO:0062023 collagen-containing extracellular matrix
GO:0070062 extracellular exosome
GO:0070831 basement membrane assembly

Subcellular Location

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Subcellular Location
Endoplasmic reticulum lumen
Endoplasmic reticulum membrane
Rough endoplasmic reticulum
Secreted

Domains

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DomainNameCategoryType
IPR001006 Procollagen-lysine 5-dioxygenase, conserved siteSiteConserved site
IPR005123 Oxoglutarate/iron-dependent dioxygenaseDomainDomain
IPR006620 Prolyl 4-hydroxylase, alpha subunitDomainDomain
IPR029044 Nucleotide-diphospho-sugar transferasesFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
612394 OMIMLysyl hydroxylase 3 deficiency (LH3 deficiency)Connective tissue disorder. The syndrome is characterized by congenital malformations severely affecting many tissues and organs and revealing features of several collagen disorders, most of them involving COL2A1 (type II collagen). The findings suggest that the failure of lysyl hydroxylation and hydroxylysyl carbohydrate addition, which affects many collagens, is the molecular basis of this syndrome. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00126 Ascorbic acidDrugbanksmall molecule
DB00139 Succinic acidDrugbanksmall molecule