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

HMGCS1 Gene

protein-coding   GIFtS: 62
GCID: GC05M043326

3-Hydroxy-3-Methylglutaryl-CoA Synthase 1 (Soluble)

(Previous name: 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble))
(Previous symbol: HMGCS)
Microbiology & Infectious Diseases Congress
  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-Hydroxy-3-Methylglutaryl-CoA Synthase 1 (Soluble)1 2     EC 2.3.3.103 8
HMGCS1 2 3     Hydroxymethylglutaryl-CoA Synthase, Cytoplasmic2
3-Hydroxy-3-Methylglutaryl-Coenzyme A Synthase 1 (Soluble)1 2     3-Hydroxy-3-Methylglutaryl Coenzyme A Synthase3
3-Hydroxy-3-Methylglutaryl Coenzyme A (HMG-CoA) Synthase1 2     HMG-CoA Synthase3

External Ids:    HGNC: 50071   Entrez Gene: 31572   Ensembl: ENSG000001129727   OMIM: 1429405   UniProtKB: Q015813   

Export aliases for HMGCS1 gene to outside databases

Previous GC identifers: GC05M043596 GC05M044466 GC05M043289 GC05M043336


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

GeneCards Summary for HMGCS1 Gene: 
HMGCS1 (3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)) is a protein-coding gene. Diseases associated with HMGCS1 include pneumonia, and parkinson's disease, and among its related super-pathways are Cholesterol biosynthesis and superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate). GO annotations related to this gene include isomerase activity and protein homodimerization activity. An important paralog of this gene is HMGCS2.

UniProtKB/Swiss-Prot: HMCS1_HUMAN, Q01581
Function: This enzyme condenses acetyl-CoA with acetoacetyl-CoA to form HMG-CoA, which is the substrate for
HMG-CoA reductase




(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_000005.9  NT_006576.16  NC_018916.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HMGCS1 gene promoter:
         AhR   AML1a   GCNF   RREB-1   AREB6   S8   GCNF-1   NF-Y   GCNF-2   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHMGCS1 promoter sequence
   Search SABiosciences Chromatin IP Primers for HMGCS1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HMGCS1


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

Entrez Gene cytogenetic band: 5p14-p13   Ensembl cytogenetic band:  5p12   HGNC cytogenetic band: 5p14-p13

HMGCS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HMGCS1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M043326:  view genomic region     (about GC identifiers)

Start:
43,289,493 bp from pter      End:
43,313,614 bp from pter
Size:
24,122 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: HMCS1_HUMAN, Q01581 (See protein sequence)
Recommended Name: Hydroxymethylglutaryl-CoA synthase, cytoplasmic  
Size: 520 amino acids; 57294 Da
Subcellular location: Cytoplasm
Sequence caution: Sequence=AAH00297.2; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for HMGCS1:
2P8U (3D)    
Secondary accessions: B2RDL8

Explore the universe of human proteins at neXtProt for HMGCS1: NX_Q01581

Explore proteomics data for HMGCS1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q01581

  • 4/17 DME Specific Peptides for HMGCS1 (Q01581) (see all 17)
     VQKSLAR  LIGPNAP  DKSKSVK  GNARPTGG 

    HMGCS1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HMGCS1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001091742.1  NP_002121.4  

    ENSEMBL proteins: 
     ENSP00000322706   ENSP00000399402   ENSP00000427339  
    Reactome Protein details: Q01581
    Human Recombinant Protein Products for HMGCS1: 
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    Novus Biologicals HMGCS1 Protein
    Novus Biologicals HMGCS1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IDA--

    HMGCS1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IUPHAR Guide to PHARMACOLOGY protein family classification: hydroxymethylglutaryl-CoA synthase 
    Lanosterol biosynthesis pathway

    5/6 InterPro protein domains (see all 6):
     IPR016038 Thiolase-like_subgr
     IPR010122 HMG_CoA_synthase_euk
     IPR000590 HMG_CoA_synt_AS
     IPR013746 HMG_CoA_synt_C
     IPR016039 Thiolase-like

    Graphical View of Domain Structure for InterPro Entry Q01581

    ProtoNet protein and cluster: Q01581

    1 Blocks protein domain: IPB000590 Hydroxymethylglutaryl-coenzyme A synthase

    UniProtKB/Swiss-Prot: HMCS1_HUMAN, Q01581
    Similarity: Belongs to the HMG-CoA synthase family


    HMGCS1 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: HMCS1_HUMAN, Q01581
    Function: This enzyme condenses acetyl-CoA with acetoacetyl-CoA to form HMG-CoA, which is the substrate for
    HMG-CoA reductase
    Catalytic activity: Acetyl-CoA + H(2)O + acetoacetyl-CoA = (S)-3-hydroxy-3-methylglutaryl-CoA + CoA

         Genatlas biochemistry entry for HMGCS1:
    3-hydroxy-3-methylglutaryl-CoA synthase 1,cytoplasmic

         Enzyme Number (IUBMB): EC 2.3.3.101 2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004421hydroxymethylglutaryl-CoA synthase activity IEA--
    GO:0008144drug binding IEA--
    GO:0016853isomerase activity IEA--
    GO:0042803protein homodimerization activity IEA--
         
    HMGCS1 for ontologies           About GeneDecksing


    Animal Models:
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    hsa-miR-4317 hsa-miR-142-5p hsa-miR-323-3p hsa-miR-4291 hsa-miR-607 hsa-miR-513a-5p hsa-miR-29a hsa-miR-200a
    SwitchGear 3'UTR luciferase reporter plasmidHMGCS1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HMGCS1


    (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 HMGCS1 About   (see all 11)                                                                                              See pathways by source

    SuperPathContained pathways About
    1cholesterol biosynthesis III (via desmosterol)
    Cholesterol biosynthesis0.85
    Cholesterol biosynthesis0.62
    superpathway of cholesterol biosynthesis0.85
    2superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)
    superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)0.85
    Terpenoid backbone biosynthesis0.55
    mevalonate pathway I0.85
    3Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    Regulation of Cholesterol Biosynthesis by SREBP (SREBF)0.67
    SREBP signalling0.37
    Activation of Gene Expression by SREBP (SREBF)0.67
    4Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    5Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
    Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)0.74
    Fatty acid, triacylglycerol, and ketone body metabolism0.52
    PPARA Activates Gene Expression0.74

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/8 BioSystems Pathways for HMGCS1 (see all 8)
        Cholesterol biosynthesis
    SREBP signalling
    SREBF and miR33 in cholesterol and lipid homeostasis
    Endochondral Ossification
    superpathway of cholesterol biosynthesis

    5/8        Reactome Pathways for HMGCS1 (see all 8)
        Metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism
    Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
    PPARA Activates Gene Expression

    1 PharmGKB Pathway for HMGCS1
        Bisphosphonate Pathway, Pharmacodynamics

    5         Kegg Pathways  (Kegg details for HMGCS1):
        Synthesis and degradation of ketone bodies
    Valine, leucine and isoleucine degradation
    Butanoate metabolism
    Terpenoid backbone biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: HMCS1_HUMAN, Q01581
    Pathway: Metabolic intermediate biosynthesis; (R)-mevalonate biosynthesis; (R)-mevalonate from acetyl-CoA: step
    2/3


    HMGCS1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HMGCS1

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

    5/140 Interacting proteins for HMGCS1 (Q015813 ENSP000003227064) via UniProtKB, MINT, STRING, and/or I2D (see all 140)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): 5/24 biological process terms (GO ID links to tree view) (see all 24):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001101response to acid IEA--
    GO:0001889liver development IEA--
    GO:0006629lipid metabolic process NAS7913309
    GO:0006695cholesterol biosynthetic process TAS--
    GO:0007420brain development IEA--

    HMGCS1 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 HMGCS1 (HMCS1)

    5 HMDB Compounds for HMGCS1    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-Hydroxy-3-methylglutaryl-CoA(S)-3-hydroxy-3-methylglutaryl-CoA (see all 15)1553-55-5--
    Acetoacetyl-CoA3-acetoacetyl-CoA (see all 9)1420-36-6--
    Acetyl-CoAS-Acetyl coenzyme A (see all 13)72-89-9--
    Coenzyme AAcetoacetyl coenzyme A sodium salt (see all 21)85-61-0--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    1 DrugBank Compound for HMGCS1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    (3R,5S,7R,12S,13R)-13-FORMYL-12,14-DIHYDROXY-3,5,7-TRIMETHYLTETRADECANOIC ACID-- --target--10592235

    1 IUPHAR Ligand for HMGCS1 (hydroxymethylglutaryl-CoA synthase)    About this table 
    LigandTypeActionAffinityPubmed IDs
    (S)-3-hydroxy-3-methylglutaryl-CoA
    InhibitorFeedback inhibition5.5 - 5.919706283

    Search CenterWatch for drugs/clinical trials and news about HMGCS1 / HMCS1

    (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 HMGCS1 gene (2 alternative transcripts): 
    NM_001098272.2  NM_002130.7  

    Unigene Clusters for HMGCS1:

    3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)
    Hs.397729  [show with all ESTs], Hs.741287  [show with all ESTs]
    Unigene Representative Sequences: NM_001098272, BI463653
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000325110(uc003jnr.4) ENST00000433297(uc003jnp.4 uc003jnq.4)
    ENST00000508319 ENST00000514610 ENST00000507004 ENST00000507293 ENST00000511774

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    8/49 QIAGEN miScript miRNA Assays for microRNAs that regulate HMGCS1 (see all 49):
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    Additional mRNA sequence: M15802.1 

    24/26 DOTS entries (see all 26):

    DT.100830773  DT.92444019  DT.100885377  DT.120849854  DT.100885378  DT.99933619  DT.75199564  DT.100885373 
    DT.100885385  DT.92046034  DT.306316  DT.100885382  DT.97859142  DT.120849879  DT.95150947  DT.100885380 
    DT.100885383  DT.120849834  DT.120849878  DT.120849928  DT.427418  DT.92444036  DT.120849887  DT.411725 

    24/315 AceView cDNA sequences (see all 315):

    AA609475 CB137106 BU162936 BM788457 C00010 CB138968 AK095492 BM854979 
    BP352204 BG740145 BM968193 BM474567 CB163263 BC082234 BU618981 BC000297 
    BG231869 CB163545 CB138919 AL550400 CR611799 AI872413 BX284043 BX494844 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for HMGCS1 (see all 9)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14
    SP1:                                                                                                                                                
    SP2:              -     -                 -                                         -                                                               
    SP3:                                                                                -                                                               
    SP4:                                                                                -                                                               
    SP5:                                                                                                                                                


    ECgene alternative splicing isoforms for HMGCS1

    (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

    HMGCS1 expression in normal human tissues (normalized intensities)      HMGCS1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    HMGCS1 Expression
    About this image


    HMGCS1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/17 selected tissues (see all 17) fully expand
     
     Brain (Nervous System)    fully expand to see all 10 entries
             Thalamus
             ganglion/cranial   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 2 entries
             visceral organ   
     
     Peripheral Nervous System (Nervous System)
             spinal/ganglion/dorsal root ganglion   

    See HMGCS1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HMGCS1

    SOURCE GeneReport for Unigene clusters: Hs.397729 Hs.741287
        SABiosciences Expression via Pathway-Focused PCR Arrays including HMGCS1: 
              Parkinson's Disease in human mouse rat
              Fatty Acid Metabolism in human mouse rat
              Amino Acid Metabolism I in human mouse rat
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

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    (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 HMGCS1 gene from 10/29 species (see all 29)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hmgcs11 , 5 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 11, 5 89.29(n)1
    94.62(a)1
      135
    2087151  NM_145942.41  NP_666054.21 
     1196904625 
    chicken
    (Gallus gallus)
    Aves HMGCS11 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble) 79.1(n)
    84.23(a)
      396379  NM_205411.1  NP_990742.1 
    lizard
    (Anolis carolinensis)
    Reptilia HMGCS16
    3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble...
    82(a)
    1 ↔ 1
    2(6150939-6167805)
    African clawed frog
    (Xenopus laevis)
    Amphibia hmgcs1-prov2 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 76.66(n)    BC042929.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc564812 similar to 3-hydroxy-3-methylglutaryl-Coenzyme A synthase more 76.37(n)   394060  BC049456.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Hmgs1 , 3 hydroxymethylglutaryl-CoA synthase3
    HMG Coenzyme A synthase1
    64(a)3
    59.12(n)1
    64.62(a)1
      53B53
    441541  NM_079972.31  NP_524711.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F25B4.63 hydroxymethlglutaryl-CoA synthase 41(a)   V(5685458-5687182)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ERG13(YML126C)4
    ERG131
    3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) synthase, more4
    Erg13p1
    56.09(n)1
    50.91(a)1
      13(20535-19060)4
    8549131, 4  NP_013580.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons MVA11 Hydroxymethylglutaryl-CoA synthase 55.41(n)
    50.11(a)
      826788  NM_117251.2  NP_192919.1 
    rice
    (Oryza sativa)
    Liliopsida AK063755.12   -- 72.33(n)    AK063755.1 


    ENSEMBL Gene Tree for HMGCS1 (if available)
    TreeFam Gene Tree for HMGCS1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HMGCS1 gene
    HMGCS22  
    1 SIMAP similar gene for HMGCS1 using alignment to 3 protein entries:     HMCS1_HUMAN (see all proteins):
    HMGCS2

    HMGCS1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for HMGCS1
    PGOHUM00000245270


    (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

    10/545 SNPs in HMGCS1 are shown (see all 545)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs563055091,2
    C--43251985(+) GCATT-/GTTCAGA 2 -- int10--------
    rs1810502801,2
    --43287127(+) AGAATA/CCATTT 2 -- ds50010--------
    rs1841755941,2
    --43287146(+) ACTTTC/GTAGAG 2 -- ds50010--------
    rs674156721,2
    C,F--43287161(+) CCTGCT/CTTCCT 2 -- ds50018Minor allele frequency- C:0.35WA NA CSA EA 368
    rs1428371531,2
    C--43287174(+) GCTCAC/TGGTCA 2 -- ds50010--------
    rs1451162171,2
    C--43287283(+) TAAAGA/TCCCAC 2 -- ds50010--------
    rs1884807011,2
    --43287314(+) CAGACA/CATCCA 2 -- ds50010--------
    rs1812999151,2
    C--43287427(+) TGGGAC/GGGCAT 2 -- ds50010--------
    rs104733061,2
    C,F,H--43287437(+) TCATTC/GTGCAA 2 -- ds50017Minor allele frequency- G:0.07NS EA WA CSA 542
    rs1859520481,2
    --43287479(+) CTCCAA/CTCTCC 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for HMGCS1 (43289493 - 43313614 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for HMGCS1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv508352CNV Loss20534489

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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
    OMIM gene information: 142940    OMIM disorders: --

    4 diseases for HMGCS1:    About MalaCards
    pneumonia    parkinson's disease    hepatitis    leukemia


    HMGCS1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): HMGCS1
    Human Genome Epidemiology (HuGE) Navigator: HMGCS1 (5 documents)

    Export disorders for HMGCS1 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 HMGCS1 gene, integrated from 9 sources (see all 42):
    (articles sorted by number of sources associating them with HMGCS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Polymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphoma. (PubMed id 18636124)1, 4 Skibola C.F....Smith M.T. (2008)
    2. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PubMed id 18660489)1, 4 Lu Y....Boer J.M. (2008)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Human cytoplasmic 3-hydroxy-3-methylglutaryl coenzyme A synthase: expression, purification, and characterization of recombinant wild- type and Cys129 mutant enzymes. (PubMed id 7913309)1, 2 Rokosz L.L.... Hermes J.D. (1994)
    6. Amplification and direct sequencing of a cDNA encoding human cytosolic 3-hydroxy-3-methylglutaryl-coenzyme A synthase. (PubMed id 1358203)1, 2 Russ A.P.... Gross W. (1992)
    7. Crystal structures of human HMG-CoA synthase isoforms provide insights into inherited ketogenesis disorders and inhibitor design. (PubMed id 20346956)1, 9 Shafqat N....Yue W.W. (2010)
    8. Transcriptional regulation of HMG-CoA synthase and HMG-CoA reductase genes by human ACBP. (PubMed id 19088433)1, 9 Vock C....Nitz I. (2008)
    9. Drafting the CLN3 protein interactome in SH-SY5Y human neuroblastoma cells: a label-free quantitative proteomics approach. (PubMed id 23464991)1 Scifo E....Lalowski M. (2013)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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: 3157 HGNC: 5007 AceView: HMGCS1 Ensembl:ENSG00000112972 euGenes: HUgn3157
    ECgene: HMGCS1 Kegg: 3157 H-InvDB: HMGCS1

    (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 HMGCS1 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 HMGCS1 gene:
    Search GeneIP for patents involving HMGCS1

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



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