Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HMGCL Gene

protein-coding   GIFtS: 65
GCID: GC01M024128

3-Hydroxymethyl-3-Methylglutaryl-CoA Lyase

(Previous name: 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
3-Hydroxymethyl-3-Methylglutaryl-CoA Lyase1 2     HMG-CoA Lyase2 3
3-Hydroxymethyl-3-Methylglutaryl-Coenzyme A Lyase1 2     EC 4.1.3.43 8
hydroxymethylglutaricaciduria1 2     3-Hydroxy-3-Methylglutaryl-CoA Lyase2
3-Hydroxy-3-Methylglutarate-CoA Lyase2 3     Hydroxymethylglutaryl-CoA Lyase, Mitochondrial2
HL2 3     Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Lyase2

External Ids:    HGNC: 50051   Entrez Gene: 31552   Ensembl: ENSG000001173057   OMIM: 6138985   UniProtKB: P359143   

Export aliases for HMGCL gene to outside databases

Previous GC identifers: GC01M023686 GC01M023199 GC01M023597 GC01M023873 GC01M024001 GC01M022379


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for HMGCL Gene:
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, Oct 2009)

GeneCards Summary for HMGCL Gene: 
HMGCL (3-hydroxymethyl-3-methylglutaryl-CoA lyase) is a protein-coding gene. Diseases associated with HMGCL include 3-hydroxy-3-methylglutaryl-coenzyme a lyase deficiency, and hmg coa lyase deficiency, and among its related super-pathways are Synthesis and degradation of ketone bodies and Metabolic pathways. GO annotations related to this gene include magnesium ion binding and protein homodimerization activity. An important paralog of this gene is HMGCLL1.

UniProtKB/Swiss-Prot: HMGCL_HUMAN, P35914
Function: Key enzyme in ketogenesis (ketone body formation). Terminal step in leucine catabolism. Ketone bodies
(beta-hydroxybutyrate, acetoacetate and acetone) are essential as an alternative source of energy to glucose, as
lipid precursors and as regulators of metabolism




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_004610.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HMGCL gene promoter:
         STAT4   STAT1beta   CUTL1   STAT1alpha   CREB   deltaCREB   HSF2   STAT2   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHMGCL promoter sequence
   Search SABiosciences Chromatin IP Primers for HMGCL

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HMGCL


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 information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M024128:  view genomic region     (about GC identifiers)

Start:
24,128,367 bp from pter      End:
24,165,110 bp from pter
Size:
36,744 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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; disulfide-linked. Can also form homotetramers
Subcellular location: Mitochondrion matrix. Peroxisome. Note=Unprocessed form is peroxisomal
4 PDB 3D structures from and Proteopedia for HMGCL:
2CW6 (3D)        3MP3 (3D)        3MP4 (3D)        3MP5 (3D)    
Secondary accessions: B4DUP4 B7UCC6 D3Y5K7 Q6IBC0 Q96FP8
Alternative splicing: 3 isoforms:  P35914-1   P35914-2   P35914-3   (Very low expression. The transcript is not translated, but would result in a catatically inactive product if it was)

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

Explore proteomics data for HMGCL at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P35914

  • 4/14 DME Specific Peptides for HMGCL (P35914) (see all 14)
     PRRLVGL  YPVLTPN  NCSIEES  VRGYVSC 

    HMGCL Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HMGCL Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_000182.2  NP_001159531.1  

    ENSEMBL proteins: 
     ENSP00000363614   ENSP00000389281   ENSP00000363611   ENSP00000235958   ENSP00000363607  
    Reactome Protein details: P35914
    Human Recombinant Protein Products for HMGCL: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for HMGCL
    OriGene Protein Over-expression Lysate for HMGCL
    OriGene MassSpec for HMGCL 
    OriGene Custom Protein Services for HMGCL
    GenScript Custom Purified and Recombinant Proteins Services for HMGCL
    Novus Biologicals HMGCL Proteins
    Novus Biologicals HMGCL Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for HMGCL
    Cloud-Clone Corp. Proteins for HMGCL 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA9869651
    GO:0005743mitochondrial inner membrane IEA--
    GO:0005759mitochondrial matrix TAS--
    GO:0005777peroxisome IDA9869651

    HMGCL for ontologies           About GeneDecksing



    HMGCL Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for HMGCL
    OriGene Custom Antibody Services for HMGCL
    GenScript Custom Superior Antibodies Services for HMGCL
    Novus Biologicals HMGCL Antibodies
    Abcam antibodies for HMGCL
    Cloud-Clone Corp. Antibodies for HMGCL 
    ThermoFisher Antibody for HMGCL
    LSBio Antibodies in human, mouse, rat for HMGCL 

    Assay Products for HMGCL: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for HMGCL
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for HMGCL
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for HMGCL 
    Cloud-Clone Corp. CLIAs for HMGCL


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR013785 Aldolase_TIM
     IPR000891 PYR_CT
     IPR000138 HMG_CoA_lyase_AS
     IPR027167 HMG-CoA_lyase

    Graphical View of Domain Structure for InterPro Entry P35914

    ProtoNet protein and cluster: P35914

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

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


    HMGCL for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HMGCL_HUMAN, P35914
    Function: Key enzyme in ketogenesis (ketone body formation). Terminal step in leucine catabolism. Ketone bodies
    (beta-hydroxybutyrate, acetoacetate and acetone) are essential as an alternative source of energy to glucose, as
    lipid precursors and as regulators of metabolism
    Catalytic activity: (S)-3-hydroxy-3-methylglutaryl-CoA = acetyl-CoA + acetoacetate
    Enzyme regulation: Stimulated by reducing agents such as dithiothreitol (DTT)
    Biophysicochemical properties: Kinetic parameters: KM=200 uM for magnesium ion; KM=48 uM for HMG-CoA; Vmax=191
    umol/min/mg enzyme;

         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

         Enzyme Number (IUBMB): EC 4.1.3.41 2

         Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000062fatty-acyl-CoA binding IEA--
    GO:0000287magnesium ion binding IDA9200711
    GO:0003824catalytic activity ----
    GO:0004419hydroxymethylglutaryl-CoA lyase activity TAS--
    GO:0005102receptor binding IPI--
         
    HMGCL for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Hmgcl):
     cardiovascular system  embryogenesis  growth/size  liver/biliary system  mortality/aging 

    HMGCL for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Hmgcltm1Gam for HMGCL

       inGenious Targeting Laboratory - Custom generated mouse model solutions for HMGCL 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for HMGCL

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HMGCL 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HMGCL 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HMGCL
    3 QIAGEN miScript miRNA Assays for microRNAs that regulate HMGCL:
    hsa-miR-571 hsa-miR-548c-3p hsa-miR-1305
    SwitchGear 3'UTR luciferase reporter plasmidHMGCL 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for HMGCL
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HMGCL

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for HMGCL
    Sirion Biotech Customized adenovirus for overexpression of HMGCL

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for HMGCL (see all 14)
    OriGene ORF clones in mouse, rat for HMGCL
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): HMGCL (NM_000191)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HMGCL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HMGCL
    Sirion Biotech Customized lentivirus for stable overexpression of HMGCL 
                         Customized lentivirus expression plasmids for stable overexpression of HMGCL 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for HMGCL
    Search LifeMap BioReagents cell lines for HMGCL
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HMGCL


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for HMGCL About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Ketone body metabolism
    Ketone body metabolism0.80
    Synthesis and degradation of ketone bodies0.56
    Synthesis of Ketone Bodies0.80
    Butanoate metabolism0.31
    Synthesis and Degradation of Ketone Bodies0.80
    2Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    3Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
    Fatty acid, triacylglycerol, and ketone body metabolism0.52
    4Branched-chain amino acid catabolism
    Valine, leucine and isoleucine degradation0.39
    5Peroxisome
    Peroxisome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for HMGCL
        Synthesis and Degradation of Ketone Bodies

    5        Reactome Pathways for HMGCL
        Ketone body metabolism
    Synthesis of Ketone Bodies
    Metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism
    Metabolism of lipids and lipoproteins


    5         Kegg Pathways  (Kegg details for HMGCL):
        Synthesis and degradation of ketone bodies
    Valine, leucine and isoleucine degradation
    Butanoate metabolism
    Metabolic pathways
    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


    HMGCL for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HMGCL

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/28 Interacting proteins for HMGCL (P359142, 3 ENSP000003636144) via UniProtKB, MINT, STRING, and/or I2D (see all 28)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ADAMTS10Q9H3242, 3, ENSP000002703284MINT-8258164 I2D: score=2 STRING: ENSP00000270328
    ARL6IP1Q150412, 3, ENSP000003067884MINT-8258175 I2D: score=2 STRING: ENSP00000306788
    DNAJA1P316892, 3, ENSP000003691274MINT-8258186 I2D: score=2 STRING: ENSP00000369127
    HES1Q144692, 3MINT-8258197 I2D: score=2 
    RNF126Q9BV682, 3, ENSP000002923634MINT-8258208 I2D: score=2 STRING: ENSP00000292363
    About this table

    Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001889liver development IEA--
    GO:0006552leucine catabolic process NAS9200711
    GO:0006637acyl-CoA metabolic process IEA--
    GO:0007005mitochondrion organization IEA--
    GO:0007584response to nutrient IEA--

    HMGCL for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    HMGCL for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HMGCL

    4 HMDB Compounds for HMGCL    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-Hydroxy-3-methylglutaryl-CoA(S)-3-hydroxy-3-methylglutaryl-CoA (see all 15)1553-55-5--
    3-Hydroxymethylglutaric acid3-Hydroxy-3-methylglutarate (see all 14)503-49-1--
    Acetoacetic acid3-Ketobutyrate (see all 9)541-50-4--
    Acetyl-CoAS-Acetyl coenzyme A (see all 13)72-89-9--

    1 DrugBank Compound for HMGCL    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    3-hydroxyglutaric acid-- 638-18-6target----

    6 Novoseek inferred chemical compound relationships for HMGCL gene    About this table
    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)

    Search CenterWatch for drugs/clinical trials and news about HMGCL

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for HMGCL gene (2 alternative transcripts): 
    NM_000191.2  NM_001166059.1  

    Unigene Cluster for HMGCL:

    3-hydroxymethyl-3-methylglutaryl-CoA lyase
    Hs.533444  [show with all ESTs]
    Unigene Representative Sequence: AK122801
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000374490(uc001bib.3 uc010oec.2) ENST00000436439(uc021oii.1)
    ENST00000374487 ENST00000235958 ENST00000509389(uc009vqs.1) ENST00000496907
    ENST00000513148 ENST00000479458 ENST00000498698 ENST00000374483(uc001bic.3)

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HMGCL
    3 QIAGEN miScript miRNA Assays for microRNAs that regulate HMGCL:
    hsa-miR-571 hsa-miR-548c-3p hsa-miR-1305
    SwitchGear 3'UTR luciferase reporter plasmidHMGCL 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for HMGCL
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HMGCL
    Clone
    Products:
         
    OriGene clones in human, mouse for HMGCL (see all 14)
    OriGene ORF clones in mouse, rat for HMGCL
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): HMGCL (NM_000191)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HMGCL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HMGCL
    Sirion Biotech Customized lentivirus for stable overexpression of HMGCL 
                         Customized lentivirus expression plasmids for stable overexpression of HMGCL 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for HMGCL
    OriGene qSTAR qPCR primer pairs in human, mouse for HMGCL
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HMGCL
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HMGCL
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HMGCL

    Additional mRNA sequence: 

    AK122801.1 AK300733.1 AK309129.1 AK313869.1 BC010570.1 BC021145.1 BT009792.1 CR456884.1 
    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.121382195  DT.95155290 
    DT.91751665  DT.95155277  DT.121382156  DT.75178439  DT.99995662  DT.91806374  DT.91928535  DT.92022788 
    DT.95155271  DT.95155276  DT.95155279  DT.97854087  DT.100663977  DT.91668479  DT.100813339  DT.102836787 

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

    BM679528 CR611350 BI826045 BM980784 BM761194 BM750083 BE876324 BE893713 
    CR616462 AL544034 CD106224 BI764433 CK826530 CB129931 BP377133 BE274601 
    AI474762 BU179140 BE897938 CB163584 BE221223 BP369107 BM709892 CR614394 

    GeneLoc Exon Structure

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

    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:                                            -     -     -           -           -     -                                 


    ECgene alternative splicing isoforms for HMGCL

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HMGCL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGGTTCTTC
    HMGCL Expression
    About this image


    See HMGCL Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HMGCL

    SOURCE GeneReport for Unigene cluster: Hs.533444

    UniProtKB/Swiss-Prot: HMGCL_HUMAN, P35914
    Tissue specificity: Highest expression in liver. Expressed in pancreas, kidey, intestine, testis, fibroblasts and
    lymphoblasts. Very low expression in brain and skeletal muscle. The relative expression of isoform 2 (at mRNA
    level) is highest in heart (30%), skeletal muscle (22%), and brain (14%)

        SABiosciences Expression via Pathway-Focused PCR Arrays including HMGCL: 
              Fatty Acid Metabolism in human mouse rat
              Amino Acid Metabolism I in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for HMGCL
    OriGene qSTAR qPCR primer pairs in human, mouse for HMGCL
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HMGCL
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HMGCL
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HMGCL
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HMGCL

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for HMGCL gene from 8/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hmgcl1 , 5 3-hydroxy-3-methylglutaryl-Coenzyme A lyase1, 5 84.92(n)1
    88(a)1
      4 (68.14 cM)5
    153561  NM_008254.21  NP_032280.21 
     1359464485 
    chicken
    (Gallus gallus)
    Aves HMGCL1 3-hydroxymethyl-3-methylglutaryl-CoA lyase 75.03(n)
    78.68(a)
      396316  NM_001198714.1  NP_001185643.1 
    lizard
    (Anolis carolinensis)
    Reptilia HMGCL6
    Uncharacterized protein
    80(a)
    1 ↔ 1
    GL343498.1(82923-90129)
    zebrafish
    (Danio rerio)
    Actinopterygii BC046023.12   -- 76.18(n)   394190  BC046023.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG103991 , 3 hydroxymethylglutaryl-CoA lyase3
    CG103991
    62(a)3
    60.61(n)1
    61.36(a)1
      27C73
    339781  NM_135245.21  NP_609089.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y71G12B.101 , 3 Protein Y71G12B.101 51(a)3
    55.01(n)1
    51.82(a)1
      I(1751494-1754316)3
    1717381  NM_058488.41  NP_490889.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G268001 Hydroxymethylglutaryl-CoA lyase 61.43(n)
    64.16(a)
      817221  NM_128237.2  NP_565629.1 
    rice
    (Oryza sativa)
    Liliopsida Os.178682 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 74.1(n)    AK066940.1 


    ENSEMBL Gene Tree for HMGCL (if available)
    TreeFam Gene Tree for HMGCL (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HMGCL gene
    HMGCLL12  
    2 SIMAP similar genes for HMGCL using alignment to 6 protein entries:     HMGCL_HUMAN (see all proteins):
    HMGCLL1    DKFZp434G1411

    HMGCL for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/569 SNPs in HMGCL are shown (see all 569)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0584474
    3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)4--see VAR_0584472 S Y mis40--------
    VAR_0584424
    3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)4--see VAR_0584422 S R mis40--------
    VAR_0584414
    3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)4--see VAR_0584412 K N mis40--------
    VAR_0037464
    3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)4--see VAR_0037462 D G mis40--------
    VAR_0037494
    3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)4--see VAR_0037492 H R mis40--------
    VAR_0037454
    3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)4--see VAR_0037452 D E mis40--------
    VAR_0037444
    3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)4--see VAR_0037442 R Q mis40--------
    VAR_0584484
    3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)4--see VAR_0584482 G E mis40--------
    VAR_0142024
    3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)4--see VAR_0142022 E K mis40--------
    VAR_0037484
    3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)4--see VAR_0037482 V L mis40--------

    HapMap Linkage Disequilibrium report for HMGCL (24128367 - 24165110 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for HMGCL: --

    Human Gene Mutation Database (HGMD): HMGCL
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing HMGCL
    DNA2.0 Custom Variant and Variant Library Synthesis for HMGCL

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 613898    OMIM disorders: --

    UniProtKB/Swiss-Prot: HMGCL_HUMAN, P35914
  • 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]: 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. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 20/22 diseases for HMGCL (see all 22):    About MalaCards
    3-hydroxy-3-methylglutaryl-coenzyme a lyase deficiency    hmg coa lyase deficiency    organic acidemia    reye syndrome
    propionic acidemia    argininosuccinic aciduria    isovaleric acidemia    the organic acidemias: an
    maple syrup urine disease    ornithine carbamoyltransferase deficiency    multiple carboxylase deficiency    ketothiolase deficiency
    beta-ketothiolase deficiency    homocystinuria    autosomal recessive disease    phenylketonuria
    hypoglycemia    dilated cardiomyopathy    retinitis pigmentosa    metabolic disorders

    9 diseases from the University of Copenhagen DISEASES database for HMGCL:
    3-Methylcrotonyl-CoA carboxylase deficiency     beta-ketothiolase deficiency     Isovaleric acidemia     Maple syrup urine disease
    Propionic acidemia     Metabolic acidosis     Methylmalonic acidemia     Hypoglycemia
    Ornithine carbamoyltransferase deficiency

    HMGCL for disorders           About GeneDecksing

    10/12 Novoseek inferred disease relationships for HMGCL gene (see all 12)    About this table

    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)

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

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

    Export disorders for HMGCL gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for HMGCL gene, integrated from 9 sources (see all 84):
    (articles sorted by number of sources associating them with HMGCL)
        Utopia: connect your pdf to the dynamic
    world of online information

    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, 9 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, 9 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, 9 Wang S....Miziorko H. (1993)
    4. 3-Hydroxy-3-methylglutaryl-CoA lyase is present in mouse and human liver peroxisomes. (PubMed id 7527399)1, 2, 9 Ashmarina L.I....Mitchell G.A. (1994)
    5. 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, 9 Buesa C....Hegardt F.G. (1996)
    6. Ten novel HMGCL mutations in 24 patients of different origin with 3- hydroxy-3-methyl-glutaric aciduria. (PubMed id 19177531)1, 2, 9 Menao S....Pie J. (2009)
    7. 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, 9 Tuinstra R.L....Miziorko H.M. (2004)
    8. C-terminal end and aminoacid Lys48 in HMG-CoA lyase are involved in substrate binding and enzyme activity. (PubMed id 17459752)1, 2, 9 Carrasco P....Casals N. (2007)
    9. Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population. (PubMed id 17173698)1, 2, 9 Al-Sayed M....Meyer B.F. (2006)
    10. 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, 9 Mitchell G.A....Miziorko H. (1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (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

    (According to HUGE)
    About This Section
      --

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

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

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for HMGCL   OriGene RNAi products in human, mouse, rat for HMGCL  
     OriGene qPCR primer pairs and template standards for HMGCL   OriGene Protein Over-expression Lysate for HMGCL  
     OriGene MassSpec something-or-other for HMGCL   OriGene clones in human, mouse for HMGCL  
     OriGene qSTAR qPCR primer pairs in human, mouse for HMGCL   OriGene Purified Protein for HMGCL  
     OriGene ORF clones in mouse, rat for HMGCL   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for HMGCL   OriGene Custom Protein Services for HMGCL  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat HMGCL
     QIAGEN SeqTarget long-range PCR primers for resequencing HMGCL
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HMGCL
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HMGCL
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HMGCL
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HMGCL
     GenScript Custom Purified and Recombinant Proteins Services for HMGCL GenScript cDNA clones with any tag delivered in your preferred vector for HMGCL
     GenScript Custom Assay Services for HMGCL GenScript Custom Superior Antibodies Services for HMGCL
     GenScript Custom overexpressing Cell Line Services for HMGCL CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in HMGCL promoter
     Search Chromatin IP Primers for HMGCL
     RT2 qPCR Primer Assay in human, mouse, rat HMGCL
     Search GNC Networks for HMGCL
     SABiosciences PCR Arrays including human, mouse, rat HMGCL
     Search Tocris compounds for HMGCL
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     HMGCL antibodies
     HMGCL proteins
     HMGCL lysates
     Antibodies for HMGCL
     See all of Abcam's Antibodies, Kits and Proteins for HMGCL
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Recombinant Protein for HMGCL




     Proteins for HMGCL
     Antibodies for HMGCL
     ELISAs for HMGCL
     CLIAs for HMGCL
     Search LifeMap BioReagents cell lines for HMGCL
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HMGCL
     SwitchGear 3'UTR luciferase reporter plasmids for HMGCL
     SwitchGear Promoter luciferase reporter plasmids for HMGCL
     ThermoFisher Antibody for HMGCL
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HMGCL
     inGenious Targeting Laboratory - Custom generated mouse model solutions for HMGCL
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for HMGCL
    Customized:
     lentivirus for stable overexpression of HMGCL
     lentivirus expression plasmids for stable overexpression of HMGCL
     adenovirus for overexpression of HMGCL
     LSBio Antibodies in human, mouse, rat for HMGCL
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      HMGCL gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4