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Literature summary for 1.14.11.4 extracted from

  • Risteli, M.; Ruotsalainen, H.; Salo, A.M.; Sormunen, R.; Sipilae, L.; Baker, N.L.; Lamande, S.R.; Vimpari-Kauppinen, L.; Myllylae, R.
    Reduction of lysyl hydroxylase 3 causes deleterious changes in the deposition and organization of extracellular matrix (2009), J. Biol. Chem., 284, 28204-28211.
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

Cloned (Comment) Organism
gene PLOD3, DNA and amino acid sequence determination and analysis, quantitative expression analysis Homo sapiens

Protein Variants

Protein Variants Comment Organism
A1011G naturally occuring heterozygous polymorphism in gene PLOD3 Homo sapiens
A195G naturally occuring polymorphism in gene PLOD3 Homo sapiens
A434G naturally occuring polymorphism in gene PLOD3 Homo sapiens
C882T naturally occuring heterozygous polymorphism in gene PLOD3 Homo sapiens
additional information glucosyltransferase, GGT, deficiency in heterozygous LH3 knock-out mouse embryonic fibroblasts affects the extracellular matrix deposition and the arrangement of the cytoskeleton, phenotype, overview. LH3 knock-out embryos and embryonic fibroblasts indicate that the loss of hydroxylysine glycosylation prevents the assembly and secretion of type IV and VI collagens, LH mutant mice show ultrastructural alterations in their skin and muscle Homo sapiens
additional information glucosyltransferase, GGT, deficiency, e.g. in the Finnish epidermolysis bullosa simplex family, due to a transcriptional defect in one LH3 allele affects the extracellular matrix deposition and the arrangement of the cytoskeleton in skin fibroblasts, phenotype, overview Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
endoplasmic reticulum
-
Homo sapiens 5783
-
extracellular space
-
Homo sapiens 5615
-

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens lysyl hydroxylase catalyzes the posttranslational formation of hydroxylysines in -X-Lys-Gly- sequences in collagens and other proteins with collagen-like domains ?
-
?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-
Homo sapiens O60568 isozyme LH3, gene PLOD3
-

Source Tissue

Source Tissue Comment Organism Textmining
fibroblast
-
Homo sapiens
-
skin
-
Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information lysyl hydroxylase catalyzes the posttranslational formation of hydroxylysines in -X-Lys-Gly- sequences in collagens and other proteins with collagen-like domains Homo sapiens ?
-
?
additional information LH3 differs from the other lysyl hydroxylase isoforms in that it possesses, in addition to lysyl hydroxylase activity, hydroxylysyl galactosyltransferase and galactosylhydroxylysyl glucosyltransferase activities, thus LH3 is able to catalyze the formation of glucosylgalactosylhydroxylysine residues Homo sapiens ?
-
?

Synonyms

Synonyms Comment Organism
lysyl hydroxylase 3
-
Homo sapiens

General Information

General Information Comment Organism
malfunction reduction of lysyl hydroxylase 3 causes deleterious changes in the deposition and organization of extracellular matrix Homo sapiens
malfunction reduction of lysyl hydroxylase 3 causes deleterious changes in the deposition and organization of extracellular matrix. Mutations in the human LH3 gene cause a severe connective tissue disorder with features that overlap with a number of collagen disorders Homo sapiens
physiological function the enzyme LH3 has an important role in the organization of the extracellular matrix and the cytoskeleton Homo sapiens