Reactome | Defective HLCS does not biotinylate 6xMCCC1:6xMCCC2

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Defective HLCS does not biotinylate 6xMCCC1:6xMCCC2 Show undefined attributes

authored	[InstanceEdit:3323152] Jassal, B, 2013-05-09
catalystActivity	[CatalystActivity:9631894] biotin-protein ligase activity of HLCS mutants [cytosol]
category	transition
compartment	[Compartment:70101] cytosol
created	[InstanceEdit:3323152] Jassal, B, 2013-05-09
dbId	9035987
disease	[Disease:3325582] vitamin metabolic disorder
displayName	Defective HLCS does not biotinylate 6xMCCC1:6xMCCC2
edited	[InstanceEdit:3323152] Jassal, B, 2013-05-09
entityFunctionalStatus	[EntityFunctionalStatus:3325455] loss_of_function of HLCS mutants [cytosol]
eventOf	[Pathway:R-HSA-3371599] Defective HLCS causes multiple carboxylase deficiency - Homo sapiens
input	[Complex:R-HSA-3323185] 6xMCCC1:6xMCCC2 [cytosol] 6 × [SimpleEntity:R-ALL-113592] ATP [cytosol] 6 × [SimpleEntity:R-ALL-199207] Btn [cytosol]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:3325505] Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA [LiteratureReference:3325445] Haplotype analysis suggests that the two predominant mutations in Japanese patients with holocarboxylase synthetase deficiency are founder mutations [LiteratureReference:3325484] Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency [LiteratureReference:3325498] Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency [LiteratureReference:3325489] Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency [LiteratureReference:3325457] Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency [LiteratureReference:3323162] Selectivity in post-translational biotin addition to five human carboxylases [LiteratureReference:3323165] Holocarboxylase synthetase: correlation of protein localisation with biological function [LiteratureReference:3323129] Identification of holocarboxylase synthetase (HCS) proteins in human placenta
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective HLCS does not biotinylate 6xMCCC1:6xMCCC2
normalReaction	[Reaction:R-HSA-2993799] HLCS biotinylates 6xMCCC1:6xMCCC2
releaseDate	2013-09-18
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:4167521] Polyak, S W, 2013-08-15
schemaClass	FailedReaction
species	[Species:48887] Homo sapiens
stId	R-HSA-9035987
summation	[Summation:9035991] Biotin (Btn) acts as a coenzyme for 5 carboxylases that exis...

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[Pathway:R-HSA-3371599] Defective HLCS causes multiple carboxylase deficiency