| UniProt Protein Function: | HLCS: Post-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. Defects in HLCS are the cause of holocarboxylase synthetase deficiency (HLCS deficiency); also known as biotin-responsive multiple carboxylase deficiency. HLCS deficiency is a neonatal form of multiple carboxylase deficiency, an autosomal recessive disorder characterized by metabolic ketoacidosis, hyperammonemia, excretion of abnormal organic acid metabolites and dermatitis. Clinical and biochemical symptoms improve dramatically with administration of biotin. Belongs to the biotin--protein ligase family.Protein type: EC 6.3.4.11; Mitochondrial; EC 6.3.4.15; EC 6.3.4.9; EC 6.3.4.10; Cofactor and Vitamin Metabolism - biotin; LigaseChromosomal Location of Human Ortholog: 21q22.13Cellular Component: nuclear lamina; nuclear matrix; mitochondrion; cytoplasm; chromatin; cytosolMolecular Function: protein binding; biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity; enzyme binding; protein homodimerization activity; biotin-[acetyl-CoA-carboxylase] ligase activity; biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity; biotin-protein ligase activity; biotin binding; ATP binding; biotin-[methylcrotonoyl-CoA-carboxylase] ligase activityBiological Process: cell proliferation; vitamin metabolic process; histone modification; protein amino acid biotinylation; water-soluble vitamin metabolic process; biotin metabolic processDisease: Holocarboxylase Synthetase Deficiency |
| UniProt Protein Details: | |
| NCBI Summary: | This gene encodes an enzyme that catalyzes the binding of biotin to carboxylases and histones. The protein plays an important role in gluconeogenesis, fatty acid synthesis and branched chain amino acid catabolism. Defects in this gene are the cause of holocarboxylase synthetase deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jun 2011] |
| UniProt Code: | P50747 |
| NCBI GenInfo Identifier: | 1705499 |
| NCBI Gene ID: | 3141 |
| NCBI Accession: | P50747.1 |
| UniProt Secondary Accession: | P50747,Q99451, B2RAH1, D3DSG6 |
| UniProt Related Accession: | P50747 |
| Molecular Weight: | 726 |
| NCBI Full Name: | Biotin--protein ligase |
| NCBI Synonym Full Names: | holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) |
| NCBI Official Symbol: | HLCSÂ Â |
| NCBI Official Synonym Symbols: | HCSÂ Â |
| NCBI Protein Information: | biotin--protein ligase; biotin apo-protein ligase; biotin--[acetyl-CoA-carboxylase] ligase; biotin--[methylcrotonoyl-CoA-carboxylase] ligase; biotin--[methylmalonyl-CoA-carboxytransferase] ligase; holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A- |
| UniProt Protein Name: | Biotin--protein ligase |
| UniProt Synonym Protein Names: | Biotin apo-protein ligaseIncluding the following 4 domains:Biotin--[methylmalonyl-CoA-carboxytransferase] ligase (EC:6.3.4.9); Biotin--[propionyl-CoA-carboxylase [ATP-hydrolyzing]] ligase (EC:6.3.4.10)Alternative name(s):Holocarboxylase synthetase; HCS |
| Protein Family: | Biotin--protein ligase |
| UniProt Gene Name: | HLCSÂ Â |
| UniProt Entry Name: | BPL1_HUMAN |
