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MGP001461

UniProt Annotations

Entry Information
Gene Nameholocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
Protein EntryBPL1_HUMAN
UniProt IDP50747
SpeciesHuman
Comments
Comment typeDescription
Biophysicochemical PropertiesKinetic parameters: KM=224 nM for biotin {ECO:0000269|PubMed:10590022}; Vmax=143.9 pmol/min/mg enzyme {ECO:0000269|PubMed:10590022};
Catalytic ActivityATP + biotin + apo-[3-methylcrotonoyl- CoA:carbon-dioxide ligase (ADP-forming)] = AMP + diphosphate + [3- methylcrotonoyl-CoA:carbon-dioxide ligase (ADP-forming)].
Catalytic ActivityATP + biotin + apo-[acetyl-CoA:carbon-dioxide ligase (ADP-forming)] = AMP + diphosphate + [acetyl-CoA:carbon- dioxide ligase (ADP-forming)].
Catalytic ActivityATP + biotin + apo-[methylmalonyl-CoA:pyruvate carboxytransferase] = AMP + diphosphate + [methylmalonyl- CoA:pyruvate carboxytransferase].
Catalytic ActivityATP + biotin + apo-[propionyl-CoA:carbon- dioxide ligase (ADP-forming)] = AMP + diphosphate + [propionyl- CoA:carbon-dioxide ligase (ADP-forming)].
DiseaseHolocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]: A neonatal form of multiple carboxylase deficiency, an autosomal recessive disorder of biotin metabolism, characterized by ketoacidosis, hyperammonemia, excretion of abnormal organic acid metabolites, and dermatitis. In holocarboxylase synthetase deficiency, clinical and biochemical symptoms improve dramatically with administration of biotin. {ECO:0000269|PubMed:10190325, ECO:0000269|PubMed:10590022, ECO:0000269|PubMed:11735028, ECO:0000269|PubMed:12124727, ECO:0000269|PubMed:12633764, ECO:0000269|PubMed:16134170, ECO:0000269|PubMed:7842009, ECO:0000269|PubMed:8541348, ECO:0000269|PubMed:8817339, ECO:0000269|PubMed:9396568}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionPost-translational modification of specific protein by attachment of biotin. Acts on various carboxylases such as acetyl- CoA-carboxylase, pyruvate carboxylase, propionyl CoA carboxylase, and 3-methylcrotonyl CoA carboxylase.
InteractionO00763:ACACB; NbExp=4; IntAct=EBI-3915568, EBI-2211739;
Sequence CautionSequence=AK307940; Type=Frameshift; Positions=169; Evidence={ECO:0000305};
SimilarityBelongs to the biotin--protein ligase family. {ECO:0000305}.
SimilarityContains 1 BPL/LPL catalytic domain. {ECO:0000255|PROSITE-ProRule:PRU01067}.
Subcellular LocationCytoplasm. Mitochondrion.
SubunitMonomer.
Tissue SpecificityMostly expressed in muscle, placenta, in lesser extent in the brain, kidney, pancreas, liver and lung.
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