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Schema
>
FailedReaction
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Entries
Defective HLCS does not biotinylate 6xMCCC1:6xMCCC2
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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...
Referrals
(hasEvent)
[Pathway:R-HSA-3371599] Defective HLCS causes multiple carboxylase deficiency
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