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Literature summary for 6.3.4.10 extracted from

  • Dupuis, L.; Leon-del Rio, A.; Leclerc, D.; Campeau, E.; Sweetman, L.; Saudubray, J.M.; Herman, G.; Gibson, K.M.; Gravel, R.A.
    Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency (1996), Hum. Mol. Genet., 5, 1011-1016.
    View publication on PubMed
Search for more literature for 6.3.4.10

Application

Application Comment Organism
medicine HCS deficiency results in biotin-responsive multiple carboxylase deficiency Homo sapiens

Cloned(Commentary)

Cloned (Comment) Organism
-
 Homo sapiens

Protein Variants

Protein Variants Comment Organism
D571N mutation within the biotin-binding region, HCS deficiency, biotin-responsive multiple carboxylase deficiency Homo sapiens
G518E mutation within the biotin-binding region, HCS deficiency, biotin-responsive multiple carboxylase deficiency Homo sapiens
L216R mutation outside the biotin-binding region, HCS deficiency, biotin-responsive multiple carboxylase deficiency Homo sapiens
R508W mutation within the biotin-binding region, HCS deficiency, biotin-responsive multiple carboxylase deficiency Homo sapiens
V363D mutation outside the biotin-binding region, HCS deficiency, biotin-responsive multiple carboxylase deficiency Homo sapiens
V550M mutation within the biotin-binding region, HCS deficiency, biotin-responsive multiple carboxylase deficiency Homo sapiens

KM Value [mM]

KM Value [mM] KM Value Maximum [mM] Substrate Comment Organism Structure
additional information
-
 additional information HCS from patients with neonatal biotin-responsive multiple carboxylase deficiency has a higher Km for biotin than normal HCS Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-
Homo sapiens
-
 holocarboxylase synthetase catalyzes the biotinylation of the four biotin-dependent carboxylases found in human, mitochondrial propionyl-CoA carboxylase, pyruvate carboxylase, beta-methylcrotonyl-CoA carboxylase, and cytosolic acetyl-CoA carboxylase
-

Source Tissue

Source Tissue Comment Organism Textmining
fibroblast
-
 Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
ATP + biotin + apo-beta-methylcrotonyl-CoA carboxylase
-
 Homo sapiens AMP + diphosphate + holo-beta-methylcrotonyl-CoA carboxylase
-
 ?
ATP + biotin + apo-[propanoyl-CoA:carbon-dioxide ligase (ADP-forming)]
-
 Homo sapiens AMP + diphosphate + [propanoyl-CoA:carbon-dioxide ligase (ADP-forming)]
-
 ?
ATP + biotin + apoacetyl-CoA carboxylase biotinylation of cytosolic ACC Homo sapiens AMP + diphosphate + holoacetyl-CoA carboxylase
-
 ?
ATP + biotin + apopropionyl-CoA carboxylase biotinylation of mitochondrial PCC Homo sapiens AMP + diphosphate + holopropionyl-CoA carboxylase
-
 ?
ATP + biotin + apopyruvate carboxylase
-
 Homo sapiens AMP + diphosphate + holopyruvate carboxylase
-
 ?
additional information HCS catalyzes the ATP-dependent biotinylation of the four biotin-dependent carboxylases found in humans Homo sapiens ?
-
 ?