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FLASH GENE
Symbol HMGCL contributors: mct - updated : 22-03-2017
HGNC name 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase (hydroxymethylglutaricaciduria)
HGNC id 5005
Corresponding disease
HMGCLD HMG-CoA lyase deficiency
Location 1p36.12      Physical location : 24.128.367 - 24.151.949
Synonym name
  • hydroxymethylglutaryl-CoA lyase, mitochondrial
  • Synonym symbol(s) HL
    EC.number 4.1.3.4
    DNA
    TYPE functioning gene
    STRUCTURE 23.58 kb     9 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence cytosine-phosphate-guanine/HTF
    Binding site
    text structure
  • CpG islands and Sp1 binding sites
  • polyadenylation signal
  • MAPPING cloned Y linked N status confirmed
    Physical map
    C1QA 1p36.3-p34.1 complement component 1, q subcomponent, alpha polypeptide C1QG 1p36.3-p34.1 complement component 1, q subcomponent, gamma polypeptide C1QB 1p36.11 complement component 1, q subcomponent, beta polypeptide EPHB2 1p36.1-p35 EphB2 LOC127309 1p36.11 similar to RIKEN cDNA 4930549C01 KIAA0601 1p36.11 KIAA0601 protein LUZP1 1p36 leucine zipper protein 1 LOC391018 1 similar to RIKEN cDNA 2410002F23 HTR1D 1p35 5-hydroxytryptamine (serotonin) receptor 1D LOC391019 1 similar to 60S ribosomal protein L29 (Cell surface heparin binding protein HIP) HNRPR 1p36.11 heterogeneous nuclear ribonucleoprotein R ZNF436 1p36 zinc finger protein 436 TCEA3 1p36.11 transcription elongation factor A (SII), 3 UPLC1 1p36.11 up-regulated in liver cancer 1 E2F2 1p36.11 E2F transcription factor 2 ID3 1p36.13-36.12 inhibitor of DNA binding 3, dominant negative helix-loop-helix protein AD7C-NTP 1p36 inhibitor of DNA binding 3, dominant negative helix-loop-helix protein RPL11 1p36.1-p35 ribosomal protein L11 TCEB3 1p36.1 transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) HT014 1p36.11 HT014 LYPLA2 1p36.12-p35.1 lysophospholipase II GALE 1p36-p35 galactose-4-epimerase, UDP- HMGCL 1p36.11 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase (hydroxymethylglutaricaciduria) FUCA1 1p36.1 fucosidase, alpha-L- 1, tissue FLJ35961 1p36.11 hypothetical protein FLJ35961 IL22RA1 1p36.11 interleukin 22 receptor, alpha 1 IL28RA 1p36.11 interleukin 28 receptor, alpha (interferon, lambda receptor) SOM 1p36.11 sister-of-mammalian grainyhead LOC90529 1p36.11 hypothetical protein LOC90529 DJ462O23.2 1p36.12-p35.1 hypothetical protein dJ462O23.2 DSCR1L2 1p35.3-p33 Down syndrome critical region gene 1-like 2 SRRM1 1p36.11 serine/arginine repetitive matrix 1 CLIC4 1p36.11 chloride intracellular channel 4 RUNX3 1p36.11 runt-related transcription factor 3
    RNA
    TRANSCRIPTS type messenger
    text two alternative spliced variants, one with skipping of exons 5 and 6
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 1617 - 325 - 2012 21952825
    7 - 1412 - 254 - 2012 21952825
  • deletions of exons 5 and 6
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  highly Homo sapiens
     intestinesmall intestineduodenum   Homo sapiens
     liver   highly Homo sapiens
    Reproductivefemale systemuteruscervix highly
    Urinarybladder   highly
     kidney   lowly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    Connectivebone   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • contains 8 cysteines, but it lacks the C-terminal cysteine implicated in thiol/disulfide exchange
  • mono polymer homomer , dimer
    HOMOLOGY
    interspecies ortholog to murine Hmgcl
    ortholog to rattus Hmgcl
    Homologene
    FAMILY HMG-CoA lyase family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    intracellular,cytoplasm,organelle,peroxisome
    basic FUNCTION
  • 3-hydroxy-3-methylglutaryl-CoA lyase, branched chain, last enzyme of ketogenesis from fatty acids
  • also leucine catabolism
  • mitochondrial and peroxisomal matrix enzyme
  • catalyzes formation of acetyl-CoA and acetoacetate in a reaction that requires divalent cation and is stimulated by sulfhydryl protective reagents
  • catalyzes a cation-dependent cleavage of substrate into acetyl-CoA and acetoacetate
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism aminoacid , lipid/lipoprotein
    signaling
  • final step of ketogenesis and leucine catabolism
  • a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HMGCLD
    related resource MITOP database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    lethal in HMGCL-deficient mice