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FLASH GENE
Symbol HLCS contributors: mct - updated : 21-08-2012
HGNC name holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)
HGNC id 4976
Corresponding disease
HLCS holocarboxylase synthetase deficiency
Location 21q22.13      Physical location : 38.123.189 - 38.362.536
Synonym name
  • biotin apoprotin ligase
  • acetyl-CoA-carboxylaseligase
  • methylmalonyl-CoA-carboxytransferaseligase
  • propionyl-CoA-carboxylase
  • Synonym symbol(s) HCS, BPL1
    EC.number 6.3.4.10/ 6.3.4.9/ 6.3.4.156.3.4 9
    DNA
    TYPE functioning gene
    STRUCTURE 239.37 kb     12 Exon(s)    1 Copie(s)
    10 Kb 5' upstream gene genomic sequence study
    text structure
  • a translation start site in methionine-58 (HLCS58) might enter the cell nucleus
  • MAPPING cloned Y linked N status confirmed
    Physical map
    PPP1R2P2 21q22.13 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 2 RPL23AP3 21q22.2 ribosomal protein L23a pseudogene 3 C21orf18 21q22.13 chromosome 21 open reading frame 18 RIMKLP 21q22.13 ribosomal modification protein rimK-like (E. coli) pseudogene CBR1 21q22.2 carbonyl reductase 1 LOC388822 21 similar to Protein CGI-27 (C21orf19-like protein) LOC391280 21 similar to ribosomal protein S9 CBR3 21q22.2 carbonyl reductase 3 C21orf5 21q22.2 chromosome 21 open reading frame 5 RPL3P1 21q22.2 ribosomal protein L3 pseudogene 1 ZCWCC3 21q22.13 zinc finger, CW-type with coiled-coil domain 3 CHAF1B 21q22.2 chromatin assembly factor 1, subunit B (p60) CLDN14 21q22.3 claudin 14 PSMD15 21q22.13 proteasome (prosome, macropain) 26S subunit, non-ATPase, 15 LOC388823 21 LOC388823 SIM2 21q22.2 single-minded homolog 2 (Drosophila) HLCS 21q22.2 holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase) MRPL20P1 21q22.2 holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase) DSCR6 21q22.2 Down syndrome critical region gene 6 DSCR5 21q22.2 Down syndrome critical region gene 5 TTC3 21q22.2 tetratricopeptide repeat domain 3 DSCR9 21q22.13 Down syndrome critical region gene 9 DSCR3 21q22.3 Down syndrome critical region gene 3 DYRK1A 21q22.2 dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A KCNJ6 21q22.2 potassium inwardly-rectifying channel, subfamily J, member 6
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 6019 81 726 - 2010 20153287
    12 - 6112 81 726 - 2010 20153287
    12 - 6953 81 726 - 2010 20153287
    - - 8500 - - - Leon del Rio
    - - - 108 - - 2011 21802411
  • nuclear protein, is catalytically active
  • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   moderately
    Endocrinepancreas   moderately
    Nervousbrain   moderately
    Respiratorylung   moderately
    Urinarykidney   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal domain recognizes the charged region of biotin acceptor protein, distinctly from the recognition by the catalytic domain
  • biotin protein ligase catalytic domain
  • mono polymer monomer
    HOMOLOGY
    interspecies homolog to C.elegans M 162.7
    Homologene
    FAMILY biotin--protein ligase family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    text
  • may also enter the nuclear compartment
  • basic FUNCTION
  • catalyzing the biotinylation of the four biotin-dependent carboxylases
  • including the mitochondrial pyruvate carboxylase, propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase and the cytosolic acetyl-CoA carboxylase
  • catalyzes the incorporation of biotin into apo carboxylase and the biotinylation of the four biotin-dependent carboxylases in the cell
  • responsible for attaching biotin onto the biotin-dependent enzymes that reside in the cytoplasm and mitochondria
  • plays a pivotal role in biotin-dependent metabolic and epigenetic phenomena
  • biotin protein ligase, which has a pivotal role in biotin-dependent metabolic pathways and epigenetic phenomena
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts directly with histone H3, causing biotinylation of K9 and K18
  • HLCS acts as a biotin-independent transcriptional repressor interacting with HDAC1, HDAC2 and HDAC7
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HLCS
    related resource MITOP database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS