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

HMGCLL1 Gene

protein-coding   GIFtS: 51
GCID: GC06M055299

3-Hydroxymethyl-3-Methylglutaryl-CoA Lyase-Like 1

(Previous name: 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1)
  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 Lyase-Like 11 2     EC 4.1.3.43 8
3-Hydroxymethyl-3-Methylglutaryl-Coenzyme A Lyase-Like 11 2     3-Hydroxymethyl-3-Methylglutaryl-CoA Lyase, Cytoplasmic2
Endoplasmic Reticulum 3-Hydroxymethyl-3-Methylglutaryl-CoA Lyase2 3     bA418P12.12
3-Hydroxymethyl-3-Methylglutaryl-CoA Lyase-Like Protein 12 3     Probable 3-Hydroxymethyl-3-Methylglutaryl-CoA Lyase 22
er-cHL2 3     

External Ids:    HGNC: 213591   Entrez Gene: 545112   Ensembl: ENSG000001461517   UniProtKB: Q8TB923   

Export aliases for HMGCLL1 gene to outside databases

Previous GC identifers: GC06M055300 GC06M055346 GC06M055407 GC06M055133


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

GeneCards Summary for HMGCLL1 Gene: 
HMGCLL1 (3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1) is a protein-coding gene. Diseases associated with HMGCLL1 include hmg coa lyase deficiency, and optic atrophy, and among its related super-pathways are Branched-chain amino acid catabolism. GO annotations related to this gene include hydroxymethylglutaryl-CoA lyase activity and metal ion binding. An important paralog of this gene is HMGCL.

UniProtKB/Swiss-Prot: HMGC2_HUMAN, Q8TB92
Function: Non-mitochondrial 3-hydroxymethyl-3-methylglutaryl-CoA lyase that catalyzes a cation-dependent cleavage
of (S)-3-hydroxy-3-methylglutaryl-CoA into acetyl-CoA and acetoacetate, a key step in ketogenesis, the products
of which support energy production in nonhepatic animal tissues




(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_000006.11  NT_007592.15  NC_018917.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HMGCLL1 gene promoter:
         NF-1   NF-1/L   Pax-5   NF-kappaB   C/EBPalpha   Gfi-1   PPAR-gamma1   PPAR-gamma2   NF-kappaB1   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHMGCLL1 promoter sequence
   Search SABiosciences Chromatin IP Primers for HMGCLL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HMGCLL1


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

Entrez Gene cytogenetic band: 6p12.1   Ensembl cytogenetic band:  6p12.1   HGNC cytogenetic band: 6p12.1

HMGCLL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HMGCLL1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M055299:  view genomic region     (about GC identifiers)

Start:
55,299,167 bp from pter      End:
55,444,012 bp from pter
Size:
144,846 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: HMGC2_HUMAN, Q8TB92 (See protein sequence)
Recommended Name: 3-hydroxymethyl-3-methylglutaryl-CoA lyase, cytoplasmic  
Size: 370 amino acids; 39514 Da
Cofactor: Divalent metal cations (Probable)
Subcellular location: Cytoplasm, cytosol. Endoplasmic reticulum membrane; Peripheral membrane protein
Sequence caution: Sequence=BAC87045.1; Type=Frameshift; Positions=253; Sequence=BAG51462.1; Type=Erroneous
translation; Note=Wrong choice of CDS;
Secondary accessions: B1AQ42 B3KNV0 B7Z1S7 F8W793 Q6ZSA9
Alternative splicing: 4 isoforms:  Q8TB92-1   Q8TB92-2   Q8TB92-4   Q8TB92-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HMGCLL1: NX_Q8TB92

Explore proteomics data for HMGCLL1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8TB92

  • 4/6 DME Specific Peptides for HMGCLL1 (Q8TB92) (see all 6)
     NCSIEES  YPVLTPN  GASGNVATEDL  EVGPRDGLQNE 

    HMGCLL1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HMGCLL1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001035865.1  NP_061909.2  

    ENSEMBL proteins: 
     ENSP00000274901   ENSP00000381654   ENSP00000359889   ENSP00000359887   ENSP00000424309  
     ENSP00000309737   ENSP00000412924   ENSP00000426054   ENSP00000350779  

    Human Recombinant Protein Products for HMGCLL1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Purified Protein for HMGCLL1
    OriGene Protein Over-expression Lysate for HMGCLL1
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    OriGene Custom Protein Services for HMGCLL1
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    Novus Biologicals HMGCLL1 Protein
    Novus Biologicals HMGCLL1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for HMGCLL1 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IDA--
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0005829cytosol IDA--
    GO:0016020membrane IDA--
    GO:0048471perinuclear region of cytoplasm IDA--

    HMGCLL1 for ontologies           About GeneDecksing



    HMGCLL1 Antibody Products: 
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    Abcam antibodies for HMGCLL1
    Cloud-Clone Corp. Antibodies for HMGCLL1 
    ThermoFisher Antibody for HMGCLL1
    LSBio Antibodies in human, mouse, rat for HMGCLL1 

    Assay Products for HMGCLL1: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for HMGCLL1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for HMGCLL1 
    Cloud-Clone Corp. CLIAs for HMGCLL1


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

    Graphical View of Domain Structure for InterPro Entry Q8TB92

    ProtoNet protein and cluster: Q8TB92

    UniProtKB/Swiss-Prot: HMGC2_HUMAN, Q8TB92
    Similarity: Belongs to the HMG-CoA lyase family


    HMGCLL1 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: HMGC2_HUMAN, Q8TB92
    Function: Non-mitochondrial 3-hydroxymethyl-3-methylglutaryl-CoA lyase that catalyzes a cation-dependent cleavage
    of (S)-3-hydroxy-3-methylglutaryl-CoA into acetyl-CoA and acetoacetate, a key step in ketogenesis, the products
    of which support energy production in nonhepatic animal tissues
    Catalytic activity: (S)-3-hydroxy-3-methylglutaryl-CoA = acetyl-CoA + acetoacetate
    Biophysicochemical properties: Kinetic parameters: KM=40 uM for (S)-3-hydroxy-3-methylglutaryl-CoA (at pH 9)
    (PubMed:22847177); KM=75 uM for (S)-3-hydroxy-3-methylglutaryl-CoA (at pH 8) (PubMed:22847177); KM=28 uM for
    (S)-3-hydroxy-3-methylglutaryl-CoA (PubMed:22865860); KM=49 uM for (S)-3-hydroxy-3-methylglutaryl-CoA (in
    presence of magnesium) (PubMed:22865860); KM=0.18 uM for (S)-3-hydroxy-3-methylglutaryl-CoA (in presence of
    manganese) (PubMed:22865860); Vmax=12 nmol/min/mg enzyme with (S)-3-hydroxy-3-methylglutaryl- CoA as substrate at
    pH 9 (PubMed:22847177); Vmax=25 nmol/min/mg enzyme with (S)-3-hydroxy-3-methylglutaryl- CoA as substrate at pH 8
    (PubMed:22847177);

         Enzyme Number (IUBMB): EC 4.1.3.41 2

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004419hydroxymethylglutaryl-CoA lyase activity ISS--
    GO:0046872metal ion binding TAS--
         
    HMGCLL1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for HMGCLL1:
     Increased cell number in G1, s  Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for HMGCLL1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for HMGCLL1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HMGCLL1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HMGCLL1 

    miRNA
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    8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate HMGCLL1 (see all 11):
    hsa-miR-411* hsa-miR-3128 hsa-miR-577 hsa-miR-142-5p hsa-miR-495 hsa-miR-379* hsa-miR-137 hsa-miR-432
    SwitchGear 3'UTR luciferase reporter plasmidHMGCLL1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of HMGCLL1

    Clone
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HMGCLL1
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                         Customized lentivirus expression plasmids for stable overexpression of HMGCLL1 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HMGCLL1


    (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 HMGCLL1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Branched-chain amino acid catabolism
    leucine degradation I0.33


    1 BioSystems Pathway for HMGCLL1
        leucine degradation I


    UniProtKB/Swiss-Prot: HMGC2_HUMAN, Q8TB92
    Pathway: Metabolic intermediate metabolism; (S)-3-hydroxy-3-methylglutaryl-CoA degradation; acetoacetate from
    (S)-3-hydroxy-3-methylglutaryl-CoA: step 1/1

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HMGCLL1

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for HMGCLL1 (ENSP000003816544) via UniProtKB, MINT, STRING, and/or I2D

    InteractantInteraction Details
    GeneCardExternal ID(s)
    AUHENSP000003648834STRING: ENSP00000364883
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0046951ketone body biosynthetic process IDA--

    HMGCLL1 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HMGCLL1 (HMGC2)

    1 HMDB Compound for HMGCLL1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Acetoacetic acid3-Ketobutyrate (see all 9)541-50-4--

    Search CenterWatch for drugs/clinical trials and news about HMGCLL1 / HMGC2

    (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 HMGCLL1 gene (2 alternative transcripts): 
    NM_001042406.1  NM_019036.2  

    Unigene Cluster for HMGCLL1:

    3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1
    Hs.147054  [show with all ESTs]
    Unigene Representative Sequence: NM_019036
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000274901(uc003pco.3 uc010jzx.3 uc011dxc.2 uc011dxd.2 uc011dxe.2)
    ENST00000398661(uc003pcn.3) ENST00000370852 ENST00000370850 ENST00000508459
    ENST00000308161 ENST00000507223 ENST00000428842(uc003pcp.3) ENST00000515546
    ENST00000358072
    miRNA
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    8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate HMGCLL1 (see all 11):
    hsa-miR-411* hsa-miR-3128 hsa-miR-577 hsa-miR-142-5p hsa-miR-495 hsa-miR-379* hsa-miR-137 hsa-miR-432
    SwitchGear 3'UTR luciferase reporter plasmidHMGCLL1 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): HMGCLL1 (NM_001042406)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HMGCLL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HMGCLL1
    Sirion Biotech Customized lentivirus for stable overexpression of HMGCLL1 
                         Customized lentivirus expression plasmids for stable overexpression of HMGCLL1 
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HMGCLL1

    Additional mRNA sequence: 

    AF131827.1 AK127587.1 AK293856.1 AK294210.1 AK297191.1 BC024194.2 

    5 DOTS entries:

    DT.91653916  DT.208839  DT.121394584  DT.91653911  DT.203684 

    24/28 AceView cDNA sequences (see all 28):

    CA771988 BM677074 AK055075 BC024194 BM721336 BG703604 AL137605 T09238 
    AA398539 T09237 AF131827 AK127587 AA393132 BI824058 AA628723 NM_019036 
    BX281003 T80309 R38957 F06678 CA773353 BF966735 BF966299 CA772268 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for HMGCLL1 (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b
    SP1:                                -     -     -                                   -                                       
    SP2:                          -     -           -                                   -                                       
    SP3:                          -     -     -     -                                   -                                       
    SP4:                          -           -     -                                                                           
    SP5:                          -     -     -     -     -     -     -     -     -     -                                       


    ECgene alternative splicing isoforms for HMGCLL1

    (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

    HMGCLL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGCTTTGCT
    HMGCLL1 Expression
    About this image


    See HMGCLL1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HMGCLL1

    SOURCE GeneReport for Unigene cluster: Hs.147054
        SABiosciences Custom PCR Arrays for HMGCLL1
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HMGCLL1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HMGCLL1

    (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 HMGCLL1 gene from 8/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hmgcll11 , 5 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like more1, 5 88.43(n)1
    92.65(a)1
      9 (42.43 cM)5
    2089821  NM_173731.21  NP_776092.11 
     760148555 
    chicken
    (Gallus gallus)
    Aves HMGCLL11 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 78.86(n)
    83.78(a)
      421886  XM_003641024.1  XP_003641072.1 
    lizard
    (Anolis carolinensis)
    Reptilia HMGCLL16
    3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1
    73(a)
    1 ↔ 1
    GL343342.1(588573-673180)
    zebrafish
    (Danio rerio)
    Actinopterygii hmgcll11 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 66.47(n)
    70.96(a)
      571388  NM_001110400.1  NP_001103870.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG103996
    --
    55(a)
    1 → many
    2L(6960426-6961552)
    worm
    (Caenorhabditis elegans)
    Secernentea Y71G12B.106
    Protein Y71G12B.10
    50(a)
    1 → many
    I(1751481-1754410)
    Alicante grape
    (Vitis vinifera)
    eudicotyledons CF603665.12   -- 73.17(n)    CF603665.1 
    rice
    (Oryza sativa)
    Liliopsida Os12g01340001 hypothetical protein 62.46(n)
    64.85(a)
      4351434  NM_001072625.1  NP_001066093.1 


    ENSEMBL Gene Tree for HMGCLL1 (if available)
    TreeFam Gene Tree for HMGCLL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HMGCLL1 gene
    HMGCL2  
    2 SIMAP similar genes for HMGCLL1 using alignment to 5 protein entries:     HMGC2_HUMAN (see all proteins):
    DKFZp434G1411    HMGCL

    HMGCLL1 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

    10/3061 SNPs in HMGCLL1 are shown (see all 3061)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1494122111,2
    --55280582(+) TAATCA/GTTTTC 2 -- us2k10--------
    rs1465724241,2
    C--55298790(+) TCCAT-/GGTTTT 2 -- int10--------
    rs1427342811,2
    --55298831(+) CCCCTC/TAGTTG 2 -- int10--------
    rs15462981,2
    C,F,O,H--55298959(+) GTACAC/TGCTAA 2 -- int129Minor allele frequency- N:0.00NS EA NA WA 3398
    rs1910100761,2
    --55298989(+) GCCAGC/TGTGCA 2 -- int10--------
    rs15462991,2
    C,F,A,H--55299220(+) TTTCCG/TAGAAA 2 -- ut31 ese330Minor allele frequency- T:0.36MN NA NS EA WA CSA 3075
    rs1817828751,2
    --55299259(+) TTTATA/TTTCAA 2 -- ut310--------
    rs77393561,2
    C,F,H--55299288(+) TCACCC/GGGTAT 2 -- ut31 ese36Minor allele frequency- G:0.02NS EA NA WA 538
    rs1473586861,2
    C--55299289(+) CACCCA/GGTATT 2 -- ut310--------
    rs1851290381,2
    --55299403(+) GTCCTA/CCTGCT 2 -- ut310--------

    HapMap Linkage Disequilibrium report for HMGCLL1 (55299167 - 55444012 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/17 variations for HMGCLL1 (see all 17):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2732112CNV Deletion23290073
    esv2732110CNV Deletion23290073
    esv1503742CNV Deletion17803354
    esv2662832CNV Deletion23128226
    esv2732109CNV Deletion23290073
    esv2732113CNV Deletion23290073
    esv2659563CNV Deletion23128226
    esv2732111CNV Deletion23290073
    esv2674357CNV Deletion23128226
    esv4242CNV Deletion18987735

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    2 diseases for HMGCLL1:    About MalaCards
    hmg coa lyase deficiency    optic atrophy

    1 disease from the University of Copenhagen DISEASES database for HMGCLL1:
    Optic atrophy

    HMGCLL1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): HMGCLL1
    Human Genome Epidemiology (HuGE) Navigator: HMGCLL1 (1 document)

    Export disorders for HMGCLL1 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 HMGCLL1 gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with HMGCLL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of a novel HMG-CoA Lyase enzyme with a dual location in endoplasmic reticulum and cytosol. (PubMed id 22847177)1, 2 Arnedo M.... Pie J. (2012)
    2. Identification and characterization of an extramitochondrial human 3- Hydroxy-3-methylglutaryl-CoA lyase. (PubMed id 22865860)1, 2 Montgomery C.... Miziorko H.M. (2012)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Large-scale concatenation cDNA sequencing. (PubMed id 9110174)1, 3 Yu W.... Gibbs R.A. (1997)
    6. A "double adaptor" method for improved shotgun library construction. (PubMed id 8619474)1, 3 Andersson B.... Gibbs R.A. (1996)
    7. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (2012)
    8. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    9. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 54511 HGNC: 21359 AceView: HMGCLL1 Ensembl:ENSG00000146151 euGenes: HUgn54511
    ECgene: HMGCLL1 H-InvDB: HMGCLL1

    (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 HMGCLL1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for HMGCLL1 gene:
    Search GeneIP for patents involving HMGCLL1

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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