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HMGCL Gene

protein-coding   GIFtS: 60

GC01M022379
3-hydroxymethyl-3-methylglutaryl-CoA lyase
(Previous name: 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Products    

Aliases &
Descriptions
for HMGCL gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases & Descriptions
3-hydroxymethyl-3-methylglutaryl-CoA lyase1 2     3-hydroxy-3-methylglutaryl-CoA lyase2
HL1 2 3     OTTHUMP000000030042
3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase1 2     hydroxymethylglutaryl-CoA lyase, mitochondrial2
3-hydroxy-3-methylglutarate-CoA lyase2 3     hydroxymethylglutaricaciduria2
HMG-CoA lyase2 3     EC 4.1.3.43
OTTHUMP000002235302     

External Ids:    HGNC: 50051   Entrez Gene: 31552   Ensembl: ENSG000001173057   UniProtKB: P359143   

Export aliases for HMGCL gene to outside databases

Previous GC identifers: GC01M023686 GC01M023199 GC01M023597 GC01M023873 GC01M024001 GC01M024128


Summaries
for HMGCL gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for HMGCL:
The protein encoded by this gene belongs to the HMG-CoA lyase family. It is a mitochondrial enzyme that catalyzes the
final step of leucine degradation and plays a key role in ketone body formation. Mutations in this gene are associated
with HMG-CoA lyase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found
for this gene. (provided by RefSeq)

UniProtKB/Swiss-Prot: HMGCL_HUMAN, P35914
Function: Involved in the catabolism of branched amino acids such as leucine (Probable)


Genomic Views
for HMGCL gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HMGCL gene promoter:
         STAT3   Max   c-Myc   Arnt   USF1   TFIID   TBP   STAT6   STAT5B   STAT5A   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for HMGCL

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36.1-p35   Ensembl cytogenetic band:  1p36.11   HGNC cytogenetic band: 1p36.1-p35

HMGCL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HMGCL gene location

GeneLoc gene densities for chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M022379:  view genomic region     (about GC identifiers)

Start:
 22,379,944 bp from pter
End:
 22,403,530 bp from pter
Size:
 23,587 bases
Orientation:
 minus strand

1 alternative location:
Chr1- 24,128,375-24,165,110     
RefSeq DNA sequence:
NC_000001.10  NT_004610.19  

Proteins
for HMGCL gene

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section
UniProtKB/Swiss-Prot: HMGCL_HUMAN, P35914 (See protein sequence)
Recommended Name: Hydroxymethylglutaryl-CoA lyase, mitochondrial precursor  
Size: 325 amino acids; 34360 Da
Cofactor: Divalent metal cations
Subunit: Homodimer
Subcellular location: Mitochondrion matrix
PDB structures from and Proteopedia :
2CW6 (3D)    3MP3 (3D)    3MP4 (3D)    3MP5 (3D)    
Secondary accessions: Q96FP8

Explore the universe of human proteins at neXtProt for HMGCL: NX_P35914 

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


    • REFSEQ proteins (2 alternative transcripts): 
    NP_000182.2  NP_001159531.1  


    ENSEMBL proteins: 
    ENSP00000363614 ENSP00000389281 ENSP00000363611 ENSP00000235958 ENSP00000363607 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: HMGCL
    OriGene Protein Over-expression Lysate: HMGCL
    GenScript Custom Purified and Recombinant Proteins Services for HMGCL 
    Novus Biologicals Protein for HMGCL
    Novus Biologicals Lysate for HMGCL
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

    3 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739 mitochondrion IEA--
    GO:0005743 mitochondrial inner membrane IEA--
    GO:0005759 mitochondrial matrix EXP8440722
    About this table

    HMGCL for ontologies           About GeneDecksing



    Antibodies for HMGCL: 
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for HMGCL
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    GenScript Custom Superior Antibodies Services for HMGCL 
    Novus Biologicals Antibodies for HMGCL
    Epitomics antibodies for HMGCL

    Assays for HMGCL: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for HMGCL 
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for HMGCL 

    Protein Domains/
    Families
    for HMGCL gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HMGCL for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR013785 Aldolase_TIM
     IPR000891 PYR_CT
     IPR000138 HMG_CoA_lyase_AS

    Graphical View of Domain Structure for InterPro Entry P35914

    ProtoNet protein and cluster: P35914

    1 Blocks protein family: IPB000138 Hydroxymethylglutaryl-coenzyme A lyase active site

    UniProtKB/Swiss-Prot: HMGCL_HUMAN, P35914
    Similarity: Belongs to the HMG-CoA lyase family


    Gene Function
    for HMGCL gene

    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    UniProtKB/Swiss-Prot: HMGCL_HUMAN, P35914
    Function: Involved in the catabolism of branched amino acids such as leucine (Probable)
    Catalytic activity: (S)-3-hydroxy-3-methylglutaryl-CoA = acetyl-CoA + acetoacetate
    Enzyme regulation: Stimulated by reducing agents (e.g. DTT)
    Biophysicochemical properties: Kinetic parameters: KM=200 uM for magnesium ion; KM=48 uM for HMG-CoA; Vmax=191
    umol/min/mg enzyme;
    Enzyme Number (IUBMB): EC 4.1.3.4 

    Inhib.
    RNA:            		Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and siRNA for HMGCL
    Sigma-Aldrich shRNA for HMGCL
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): HMGCL
    OriGene shRNA RFP (see all 2): HMGCL
    OriGene basic RS shRNA (see all 2): HMGCL
    OriGene siRNA (see all 2): HMGCL
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of HMGCL 
    miRNA:Sigma-Aldrich microRNA Mimics for HMGCL
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of HMGCL 
    Search SABiosciences for Assays for microRNAs that regulate HMGCL

    Gene
    Editing:    		Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): HMGCL
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): HMGCL
    OriGene untagged cDNA clones in CMV expression vector (see all 2): HMGCL
    OriGene 3'-UTR clone (see all 2): HMGCL 
    Browse MicroRNA Expression Plasmids 
    GenScript cDNA clone with any tag delivered in your preferred vector: HMGCL 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:          		GenScript Custom overexpressing Cell Line Services for HMGCL 

    Genatlas biochemistry entry for HMGCL:
    3-hydroxy-3-methylglutaryl-CoA lyase,homodimeric mitochondrial and peroxisomal matrix enzyme,branched chain,last enzyme
    of ketogenesis from fatty acids and also leucine catabolism,lethal in HMGCL-deficient mice

    5/6 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 6):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000062 acyl-CoA binding IEA--
    GO:0003824 catalytic activity ----
    GO:0004419 hydroxymethylglutaryl-CoA lyase activity EXP8440722
    GO:0016829 lyase activity IEA--
    GO:0031406 carboxylic acid binding IEA--
    About this table

    HMGCL for ontologies           About GeneDecksing

    Animal Models: 5 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Hmgcl):

    cardiovascular systemembryogenesisgrowth/sizelethality-prenatal/perinatalliver/biliary system

    HMGCL for phenotypes           About GeneDecksing


    Pathways & Interactions
    for HMGCL gene

    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section


    HMGCL for pathways           About GeneDecksing

    3 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for  HMGCL
        Valine, Leucine and Isoleucine Degradation
    Butanoate Metabolism
    Synthesis and Degradation of Ketone Bodies

    5 Kegg Pathways  (Kegg details for HMGCL):
        hsa00072 Synthesis and degradation of ketone bodies
    hsa00280 Valine, leucine and isoleucine degradation
    hsa00650 Butanoate metabolism
    hsa01100 Metabolic pathways
    hsa04146 Peroxisome

    UniProtKB/Swiss-Prot: HMGCL_HUMAN, P35914
    Pathway: Metabolic intermediate metabolism; (S)-3-hydroxy-3-methylglutaryl-CoA degradation; acetoacetate from
    (S)-3-hydroxy-3-methylglutaryl-CoA: step 1/1

        SABiosciences Pathway-Focused PCR Array including HMGCL: PAHS-007A 

        Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for HMGCL
        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HMGCL

    5/23 Interacting proteins for HMGCL (ENSP000003636143) via UniProtKB, MINT, and/or STRING (see all 23)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    AACSENSP000003248423STRING: ENSP00000324842
    ACAA1ENSP000003336643STRING: ENSP00000333664
    ACAA2ENSP000002850933STRING: ENSP00000285093
    ACAT1ENSP000002658383STRING: ENSP00000265838
    ACAT2ENSP000003560153STRING: ENSP00000356015
    About this table

    5/7 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 7):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006637 acyl-CoA metabolic process IEA--
    GO:0007005 mitochondrion organization ----
    GO:0009790 embryo development ----
    GO:0043441 acetoacetic acid biosynthetic process TAS--
    GO:0044255 cellular lipid metabolic process TAS--
    About this table

    HMGCL for ontologies           About GeneDecksing



    Drugs & Compounds
    for HMGCL gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    HMGCL for compounds           About GeneDecksing

    Sigma-Aldrich Small Molecules for HMGCL:
    Small Molecule - Inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HMGCL
    6 Novoseek chemical compound relationships for HMGCL gene
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    3-hydroxy-3-methylglutaryl-coa 91.4 23 12746442 (3), 1302289 (2), 8617516 (2), 9776534 (1) (see all 16)
    4-hydroxy-2-oxovalerate 83.8 1 15122894 (1)
    leucine 70.8 13 9658458 (2), 15752612 (1), 16876013 (1), 15164951 (1) (see all 10)
    acetoacetate 65.4 2 8617516 (1), 9658458 (1)
    acetyl-coa 55.6 2 8617516 (1), 9658458 (1)
    cysteine 8.5 1 1304393 (1)
    About this table



    Transcripts
    for HMGCL gene

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section
    Inhib.
    RNA:             		Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and siRNA for HMGCL
    Sigma-Aldrich shRNA for HMGCL
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): HMGCL
    OriGene shRNA RFP (see all 2): HMGCL
    OriGene basic RS shRNA (see all 2): HMGCL
    OriGene siRNA (see all 2): HMGCL
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of HMGCL 
    miRNA: Sigma-Aldrich microRNA Mimics for HMGCL
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of HMGCL 
    Search SABiosciences for Assays for microRNAs that regulate HMGCL
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): HMGCL
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): HMGCL
    OriGene untagged cDNA clones in CMV expression vector (see all 2): HMGCL
    OriGene 3'-UTR Clone (see all 2): HMGCL 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript cDNA clone with any tag delivered in your preferred vector: HMGCL 
    Primers: OriGene genome-wide validated SYBR primer pairs: HMGCL
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for HMGCL: PPH21244A

    REFSEQ mRNAs for HMGCL gene (2 alternative transcripts): 

    NM_000191.2  NM_001166059.1  

    Additional cDNA sequence: 

    AK122801.1 AK300733.1 AK309129.1 AK313869.1 BC010570.1 BC021145.1 BT009792.1 CR456884.1 
    CR592209.1 CR593217.1 CR599768.1 CR607081.1 CR608993.1 CR609177.1 CR609456.1 CR612765.1 
    CR613735.1 CR614394.1 CR623692.1 CR624928.1 CR625443.1 CR626171.1 FJ472654.1 GU433941.1 
    L07033.1 

    24/25 DOTS entries (see all 25):

    DT.216731  DT.100815335  DT.100815338  DT.100024518  DT.100661763  DT.95155278  DT.121382156  DT.121382195 
    DT.95155290  DT.91751665  DT.105024  DT.95155277  DT.75178439  DT.99995662  DT.91806374  DT.91928535 
    DT.92022788  DT.95155271  DT.95155276  DT.95155279  DT.97854087  DT.100663977  DT.102836787  DT.91668479 

    24/715 AceView cDNA sequences (see all 715):

    BE867351 BG106855 BG033962 BM721102 BE304553 CR609456 CA306929 BQ653307 
    AI123937 BU742061 CR620370 BI870763 BM849315 BG751626 BP347853 BM721641 
    AI051126 CR616589 AI719061 CR608993 BM745144 BU675507 AA457172 AL525793 

    highest scoring ESTs for HMGCL:

    AK122801 AL702257 AV761296 AV763830 BC010570 BF527971 BF795841 BG171471 BG430865 BG751626 

    Unigene Cluster for HMGCL:

    3-hydroxymethyl-3-methylglutaryl-CoA lyase
    Hs.533444  [show with all ESTs]
    Unigene Representative Sequence: AK122801


    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for HMGCL (see all 7)

    ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b · 12c
    SP1:        -     -     -                                   -           -           -     -                                 
    SP2:                                                        -           -           -     -                                 
    SP3:                                            -     -     -     -     -           -     -                                 
    SP4:                                                        -                                                               
    SP5:                                            -     -     -           -           -     -                                 

    About this scheme

    ECgene alternative splicing isoforms for HMGCL
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000374490(uc001bib.2 uc010oec.1 uc009vqr.2) ENST00000436439
    ENST00000374487(uc001bic.2) ENST00000235958 ENST00000509389(uc009vqs.1)
    ENST00000496907 ENST00000513148(uc001bid.1) ENST00000465332 ENST00000479458
    ENST00000498698 ENST00000374483

    Expression
    for HMGCL gene

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    HMGCL expression in normal and diseased human tissues

    1  / 2  / 3

    3 probe-sets matching HMGCL gene

    Affymetrix
    probe-set    		 Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    38425_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 U49719 0.20 1.00 0.72 1
    202772_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000191 0.60 0.83 0.73 1
    202772_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table

    HMGCL for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    HMGCL gene expression
    HMGCL gene electronic northern expression
    HMGCL gene sage expression
    About these images

    CGAP SAGE TAG: GAGGTTCTTC

    SOURCE GeneReport for Unigene cluster: Hs.533444

    Expression variation in blood from EXPOLDB for HMGCL

    UniProtKB/Swiss-Prot: HMGCL_HUMAN, P35914
    Tissue specificity: Fibroblasts, liver and lymphoblasts

    Primers: OriGene genome-wide validated SYBR primer pairs: HMGCL
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for HMGCL: PPH21244A
        SABiosciences Expression via Pathway-Focused PCR Array including HMGCL: PAHS-007A 


    Orthologs
    for HMGCL gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section
    Orthologs for HMGCL gene from 5/16 species (see all 16)
    Organism Gene Locus Description Human
    Similarity    		 NCBI accessions
    dog
    (Canis familiaris)    		 HMGCL1   -- 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase 88.1(n)
    87.08(a)    		 478187  XM_535360.2  XP_535360.2 
    chimpanzee
    (Pan troglodytes)    		 HMGCL1   -- 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase 99.49(n)
    99.69(a)    		 456624  XM_001166273.1  XP_001166273.1 
    cow
    (Bos taurus)    		 HMGCL1   -- 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase 88.82(n)
    88.92(a)    		 317658  NM_001075132.1  NP_001068600.1 
    rat
    (Rattus norvegicus)    		 Hmgcl1   -- 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase 84.62(n)
    88.92(a)    		 79238  NM_024386.1  NP_077362.1 
    mouse
    (Mus musculus)    		 Hmgcl1 , 5 4 (68.14 cM)5
    		 3-hydroxy-3-methylglutaryl-Coenzyme A lyase1, 5 84.92(n)1
    87.38(a)1    		 153561  NM_008254.11  NP_032280.11 
     AK0778425  AK1320355  (see all 26)
    About this table        Species with no ortholog for HMGCL

    ENSEMBL Gene Tree for HMGCL (if available)

    Paralogs
    for HMGCL gene

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for HMGCL gene
    HMGCLL12  

    HMGCL for paralogs           About GeneDecksing



    Genomic Variants
    for HMGCL gene

    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/230 NCBI SNPs in HMGCL are shown (see all 230)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 1 posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ----------
    rs7193991,2
    		C,A,H,24134462(-) gtacaA/Gctctg 2 -- int110Minor allele frequency- G:0.08NA WA 252
    rs7194001,2
    		C,F,O,A,H,24134721(-) ATGCTG/ATCTGC 4 /L ref1 syn121Minor allele frequency- A:0.12NS EA MN NA WA 2524
    rs9746981,2
    		C,F,A,24132785(+) ctcccT/Cgcccc 2 -- int1 trp34Minor allele frequency- C:0.25NA 8
    rs10183961,2
    		C,F,A,H,24133612(+) TGAGCA/GTGATC 2 -- int118Minor allele frequency- G:0.42NA EA NS 888
    rs20763441,2
    		C,F,A,H,24143932(+) TCCCTG/AGAGAA 2 -- int115Minor allele frequency- A:0.13EA NS NA WA 2078
    rs21793941,2
    		H24148242(+) CTGGAA/TTCATC 2 -- int14Minor allele frequency- T:0.00NS EA 416
    rs21793951,2
    		C,F,O,A,24148365(+) GTTCTC/TACATC 2 -- int112Minor allele frequency- T:0.32NS EA NA WA 638
    rs22561791,2
    		C,F,A,H,24132305(+) AACACA/GAACTG 2 -- int123Minor allele frequency- G:0.39EA NS NA WA 2904
    rs22811811,2
    		C24139436(+) gtgcaC/Gtggcg 2 -- int13Minor allele frequency- G:0.33NA WA 6
    rs24733741,2
    		C,F,24131670(+) gacccT/Cgagct 2 -- int11Minor allele frequency- C:0.24WA 50
    About this table

    HapMap Linkage Disequilibrium images for HMGCL (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for HMGCL: --

    QIAGEN SeqTarget long-range PCR primers for resequencing HMGCL 

    Disorders & Mutations
    for HMGCL gene

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    HMGCL for disorders           About GeneDecksing

    OMIM: 246450

    UniProtKB/Swiss-Prot: HMGCL_HUMAN, P35914

  • Defects in HMGCL are the cause of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]; also
    • known as hydroxymethylglutaricaciduria or HL deficiency. An autosomal recessive disease affecting ketogenesis and
    L-leucine catabolism. The disease usually appears in the first year of life after a fasting period and its clinical
    acute symptoms include vomiting, seizures, metabolic acidosis, hypoketotic hypoglycemia and lethargy. These symptoms
    sometimes progress to coma, with fatal outcome in some cases

    10/12 Novoseek disease relationships for HMGCL gene (see all 12)

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    aciduria organic 74.9 2 17173698 (1), 15308132 (1)
    metabolic acidosis 73.5 2 2225463 (1), 19932602 (1)
    hyperammonemia 70.3 1 2225463 (1)
    hypoglycemia 68.8 5 8440722 (1), 2225463 (1), 19932602 (1), 8617516 (1) (see all 5)
    reye syndrome 68.4 1 7777393 (1)
    propionic acidemia 68 1 1588014 (1)
    maple syrup urine disease 60.6 1 16398167 (1)
    methylmalonic aciduria 59 1 1588014 (1)
    homocystinuria 53.8 1 16398167 (1)
    genetic disorder 51.1 4 15752612 (1), 17692550 (1), 19932602 (1)
    About this table

    Genatlas disease: HMGCL
    defective ketogenesis characterized by recurrent non ketotic hypoglycemia with acidosis,hyperammonemia and
    hydroxymethylglutaricaciduria

    Human Gene Mutation Database (HGMD): HMGCL
    Genetic Association Database (GAD): HMGCL
    Human Genome Epidemiology (HuGE) Navigator: HMGCL (3 documents)

    Export disorders and mutations for HMGCL gene to outside databases

    Medical News
    for HMGCL gene

    (Possibly Related Articles in Doctor's Guide)
    About This Section
    		   --

    Publications
    for HMGCL gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
    About This Section

    10/72 PubMed articles for HMGCL gene, integrated from 7 sources (see all 72):
    (articles sorted by number of sources associating them with HMGCL)
    1. 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL). Cloning of human and chicken liver HL cDNAs and characterization of a mutation causing human HL deficiency. (PubMed id 8440722)1, 2, 7 Mitchell G.A....Miziorko H.M. (1993)
    2. 3-hydroxy-3-methylglutaryl CoA lyase (HL): mouse and human HL gene (HMGCL) cloning and detection of large gene deletions in two unrelated HL-deficient patients. (PubMed id 8617516)1, 2, 7 Wang S.P.... Mitchell G.A. (1996)
    3. 3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL): cloning and characterization of a mouse liver HL cDNA and subchromosomal mapping of the human and mouse HL genes. (PubMed id 8102917)1, 3, 7 Wang S....Miziorko H. (1993)
    4. Aberrantly spliced mRNAs of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene with a donor splice-site point mutation produce hereditary HL deficiency. (PubMed id 8978493)1, 3, 7 Buesa C....Hegardt F.G. (1996)
    5. Ten novel HMGCL mutations in 24 patients of different origin with 3- hydroxy-3-methyl-glutaric aciduria. (PubMed id 19177531)1, 2, 7 Menao S....Pie J. (2009)
    6. Evaluation of 3-hydroxy-3-methylglutaryl-coenzyme A lyase arginine-41 as a catalytic residue: use of acetyldithio-coenzyme A to monitor product enolization. (PubMed id 15122894)1, 2, 7 Tuinstra R.L....Miziorko H.M. (2004)
    7. C-terminal end and aminoacid Lys48 in HMG-CoA lyase are involved in substrate binding and enzyme activity. (PubMed id 17459752)1, 2, 7 Carrasco P....Casals N. (2007)
    8. HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q. (PubMed id 9463337)1, 2, 7 Mitchell G.A....Miziorko H. (1998)
    9. Crystal structure of human 3-hydroxy-3-methylglutaryl-CoA Lyase: insights into catalysis and the molecular basis for hydroxymethylglutaric aciduria. (PubMed id 16330550)1, 2 Fu Z.... Kim J.J. (2006)
    10. Additive effects of the PPARgamma, APOE, and FABP-2 genes in increasing daylong triglycerides of normolipidemic women to concentrations comparable to those in men. (PubMed id 15764642)1, 4 Ribalta J....Cabezas M.C. (2005)

    External Searches for HMGCL gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing HMGCL gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3155 HGNC: 5005 AceView: HMGCLandGALE Ensembl:ENSG00000117305 euGenes: HUgn3155
    ECgene: HMGCL Kegg: 3155 H-InvDB: HMGCL

    Other Databases showing HMGCL gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing HMGCL gene

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HMGCL

    Intellectual Property
    for HMGCL gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
    About This Section
    		Patent Information for HMGCL gene:
    Search GeneIP for patents involving HMGCL

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    Products
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    Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or Enzo Life Sciences)
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