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Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency

Dupuis, L.; Leon-del Rio, A.; Leclerc, D.; Campeau, E.; Sweetman, L.; Saudubray, J.M.; Herman, G.; Gibson, K.M.; Gravel, R.A.; Hum. Mol. Genet. 5, 1011-1016 (1996)

Data extracted from this reference:

Application
EC Number
Application
Commentary
Organism
6.3.4.10
medicine
HCS deficiency results in biotin-responsive multiple carboxylase deficiency
Homo sapiens
Cloned(Commentary)
EC Number
Commentary
Organism
6.3.4.10
-
Homo sapiens
Engineering
EC Number
Amino acid exchange
Commentary
Organism
6.3.4.10
D571N
mutation within the biotin-binding region, HCS deficiency, biotin-responsive multiple carboxylase deficiency
Homo sapiens
6.3.4.10
G518E
mutation within the biotin-binding region, HCS deficiency, biotin-responsive multiple carboxylase deficiency
Homo sapiens
6.3.4.10
L216R
mutation outside the biotin-binding region, HCS deficiency, biotin-responsive multiple carboxylase deficiency
Homo sapiens
6.3.4.10
R508W
mutation within the biotin-binding region, HCS deficiency, biotin-responsive multiple carboxylase deficiency
Homo sapiens
6.3.4.10
V363D
mutation outside the biotin-binding region, HCS deficiency, biotin-responsive multiple carboxylase deficiency
Homo sapiens
6.3.4.10
V550M
mutation within the biotin-binding region, HCS deficiency, biotin-responsive multiple carboxylase deficiency
Homo sapiens
KM Value [mM]
EC Number
KM Value [mM]
KM Value Maximum [mM]
Substrate
Commentary
Organism
Structure
6.3.4.10
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
EC Number
Organism
Primary Accession No. (UniProt)
Commentary
Textmining
6.3.4.10
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
-
6.3.4.15
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
EC Number
Source Tissue
Commentary
Organism
Textmining
6.3.4.10
fibroblast
-
Homo sapiens
-
Substrates and Products (Substrate)
EC Number
Substrates
Commentary Substrates
Literature (Substrates)
Organism
Products
Commentary (Products)
Literature (Products)
Organism (Products)
Reversibility
6.3.4.10
ATP + biotin + apo-beta-methylcrotonyl-CoA carboxylase
-
1392
Homo sapiens
AMP + diphosphate + holo-beta-methylcrotonyl-CoA carboxylase
-
-
-
?
6.3.4.10
ATP + biotin + apo-[propanoyl-CoA:carbon-dioxide ligase (ADP-forming)]
-
1392
Homo sapiens
AMP + diphosphate + [propanoyl-CoA:carbon-dioxide ligase (ADP-forming)]
-
1392
Homo sapiens
-
6.3.4.10
ATP + biotin + apoacetyl-CoA carboxylase
biotinylation of cytosolic ACC
1392
Homo sapiens
AMP + diphosphate + holoacetyl-CoA carboxylase
-
-
-
?
6.3.4.10
ATP + biotin + apopropionyl-CoA carboxylase
biotinylation of mitochondrial PCC
1392
Homo sapiens
AMP + diphosphate + holopropionyl-CoA carboxylase
-
-
-
?
6.3.4.10
ATP + biotin + apopyruvate carboxylase
-
1392
Homo sapiens
AMP + diphosphate + holopyruvate carboxylase
-
-
-
?
6.3.4.10
additional information
HCS catalyzes the ATP-dependent biotinylation of the four biotin-dependent carboxylases found in humans
1392
Homo sapiens
?
-
-
-
-
6.3.4.15
ATP + biotin + apo-[acetyl-CoA:carbon-dioxide ligase (ADP-forming)]
-
1392
Homo sapiens
AMP + diphosphate + [acetyl-CoA:carbon-dioxide ligase (ADP-forming)]
-
1392
Homo sapiens
-
Application (protein specific)
EC Number
Application
Commentary
Organism
6.3.4.10
medicine
HCS deficiency results in biotin-responsive multiple carboxylase deficiency
Homo sapiens
Cloned(Commentary) (protein specific)
EC Number
Commentary
Organism
6.3.4.10
-
Homo sapiens
Engineering (protein specific)
EC Number
Amino acid exchange
Commentary
Organism
6.3.4.10
D571N
mutation within the biotin-binding region, HCS deficiency, biotin-responsive multiple carboxylase deficiency
Homo sapiens
6.3.4.10
G518E
mutation within the biotin-binding region, HCS deficiency, biotin-responsive multiple carboxylase deficiency
Homo sapiens
6.3.4.10
L216R
mutation outside the biotin-binding region, HCS deficiency, biotin-responsive multiple carboxylase deficiency
Homo sapiens
6.3.4.10
R508W
mutation within the biotin-binding region, HCS deficiency, biotin-responsive multiple carboxylase deficiency
Homo sapiens
6.3.4.10
V363D
mutation outside the biotin-binding region, HCS deficiency, biotin-responsive multiple carboxylase deficiency
Homo sapiens
6.3.4.10
V550M
mutation within the biotin-binding region, HCS deficiency, biotin-responsive multiple carboxylase deficiency
Homo sapiens
KM Value [mM] (protein specific)
EC Number
KM Value [mM]
KM Value Maximum [mM]
Substrate
Commentary
Organism
Structure
6.3.4.10
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
Source Tissue (protein specific)
EC Number
Source Tissue
Commentary
Organism
Textmining
6.3.4.10
fibroblast
-
Homo sapiens
-
Substrates and Products (Substrate) (protein specific)
EC Number
Substrates
Commentary Substrates
Literature (Substrates)
Organism
Products
Commentary (Products)
Literature (Products)
Organism (Products)
Reversibility
6.3.4.10
ATP + biotin + apo-beta-methylcrotonyl-CoA carboxylase
-
1392
Homo sapiens
AMP + diphosphate + holo-beta-methylcrotonyl-CoA carboxylase
-
-
-
?
6.3.4.10
ATP + biotin + apo-[propanoyl-CoA:carbon-dioxide ligase (ADP-forming)]
-
1392
Homo sapiens
AMP + diphosphate + [propanoyl-CoA:carbon-dioxide ligase (ADP-forming)]
-
1392
Homo sapiens
-
6.3.4.10
ATP + biotin + apoacetyl-CoA carboxylase
biotinylation of cytosolic ACC
1392
Homo sapiens
AMP + diphosphate + holoacetyl-CoA carboxylase
-
-
-
?
6.3.4.10
ATP + biotin + apopropionyl-CoA carboxylase
biotinylation of mitochondrial PCC
1392
Homo sapiens
AMP + diphosphate + holopropionyl-CoA carboxylase
-
-
-
?
6.3.4.10
ATP + biotin + apopyruvate carboxylase
-
1392
Homo sapiens
AMP + diphosphate + holopyruvate carboxylase
-
-
-
?
6.3.4.10
additional information
HCS catalyzes the ATP-dependent biotinylation of the four biotin-dependent carboxylases found in humans
1392
Homo sapiens
?
-
-
-
-
6.3.4.15
ATP + biotin + apo-[acetyl-CoA:carbon-dioxide ligase (ADP-forming)]
-
1392
Homo sapiens
AMP + diphosphate + [acetyl-CoA:carbon-dioxide ligase (ADP-forming)]
-
1392
Homo sapiens
-