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biotin-protein ligase; biotin apo-protein ligase; includes: biotin-[methylmalonyl-CoA-carboxytransferase] ligase; biotin-[propionyl-CoA-carboxylase [ATP-hydrolyzing]] ligase; holocarboxylase synthetase; HCS; biotin-[methylcrotonoyl-CoA-carboxylase] ligase; biotin-[acetyl-CoA-carboxylase] ligase (HLCS)
Function:
1) post-translational modification of specific proteins by attachment of biotin
2) biotinylates CoA carboxylases, including:
a) acetyl CoA carboxylase
b) propionyl CoA carboxylase
c) methylmalonyl CoA carboxylase
d) methylcrotonoyl CoA carboxylase
ATP + biotin + apo-[methylmalonyl-CoA:pyruvate carboxytransferase] = AMP + diphosphate + [methylmalonyl-CoA:pyruvate carboxytransferase]
ATP + biotin + apo-[propionyl-CoA:carbon-dioxide ligase (ADP-forming)] = AMP + diphosphate + [propionyl-CoA:carbon-dioxide ligase (ADP-forming)]
ATP + biotin + apo-[3-methylcrotonoyl-CoA:carbon-dioxide ligase (ADP-forming)] = AMP + diphosphate + [3-methylcrotonoyl-CoA: carbon-dioxide ligase (ADP-forming)]
ATP + biotin + apo-[acetyl-CoA:carbon-dioxide ligase (ADP-forming)] = AMP + diphosphate + [acetyl-CoA:carbon-dioxide ligase (ADP-forming)]
Kinetic parameters:
- KM=224 nM for biotin
- Vmax=143.9 pmol/min/mg enzyme
Structure:
- monomer
- belongs to the biotin-protein ligase family
Compartment: cytoplasm, mitochondria
Expression:
- mostly expressed in muscle, placenta
- lesser expression in brain, kidney, pancreas, liver & lung
Pathology:
- defects in HLCS are associated with holocarboxylase synthetase deficiency
General
ligase or synthetase
phosphoprotein
Properties
SIZE: entity length = 726 aa
MW = 81 kD
COMPARTMENT: mitochondria
cytoplasm
MOTIF: Ser phosphorylation site {S147}
Database Correlations
OMIM correlations
MORBIDMAP 609018
UniProt P50747
PFAM correlations
Entrez Gene 3141
Kegg hsa:3141
ENZYME correlations
References
- UniProt :accession P50747
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/HLCS