NP_001229714.1
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
80,760 Da
NCBI Official Full Name
biotin--protein ligase
NCBI Official Synonym Full Names
holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
NCBI Official Synonym Symbols
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-carboxylase (ATP-hydrolysing)) ligase)
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
UniProt Synonym Gene Names
UniProt Entry Name
BPL1_HUMAN
NCBI Summary for HLCS
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 Comments for HLCS
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: Ligase; EC 6.3.4.9; EC 6.3.4.15; Cofactor and Vitamin Metabolism - biotin; Mitochondrial; EC 6.3.4.11; EC 6.3.4.10
Chromosomal Location of Human Ortholog: 21q22.13
Cellular Component: nuclear lamina; nuclear matrix; mitochondrion; cytoplasm; cytosol; chromatin
Molecular 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; biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity; ATP binding
Biological Process: cell proliferation; vitamin metabolic process; histone modification; protein amino acid biotinylation; water-soluble vitamin metabolic process; biotin metabolic process
Disease: Holocarboxylase Synthetase Deficiency
Research Articles on HLCS
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Products associated with HLCS elisa kit
Pathways associated with HLCS elisa kit
Diseases associated with HLCS elisa kit
Organs/Tissues associated with HLCS elisa kit
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