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

HMGCS1 Gene

protein-coding   GIFtS: 60
GCID: GC05M043326

3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)

(Previous name: 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble)...)
(Previous symbol: HMGCS)
 Explore 5 diseases affiliated with
HMGCS1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for HMGCS1    

Aliases
for HMGCS1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
3-Hydroxy-3-Methylglutaryl-CoA Synthase 1 (Soluble)1 2     3-Hydroxy-3-Methylglutaryl Coenzyme A (HMG-CoA) Synthase2
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
EC 2.3.3.103 8     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


Summaries
for HMGCS1 gene

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




Genomic Views
for HMGCS1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_006576.16  
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 plasmid: HMGCS1 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

Proteins
for HMGCS1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000322706   ENSP00000399402   ENSP00000427339  
    Reactome Protein details: Q01581
    Human Recombinant Protein Products: 
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    Novus Biologicals HMGCS1 Protein
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    Uscn Proteins for HMGCS1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005625soluble fraction ----
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--


    HMGCS1 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for HMGCS1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HMGCS1 for domains           About GeneDecksing

    5/6 InterPro domains/families (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 family: IPB000590 Hydroxymethylglutaryl-coenzyme A synthase

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


    Function
    for HMGCS1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HMGCS1
    8/49 QIAGEN miScript miRNA Assays for microRNAs that regulate HMGCS1 (see all 49):
    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 plasmid: HMGCS1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004421hydroxymethylglutaryl-CoA synthase activity IEA--
    GO:0008144drug binding IEA--
    GO:0016853isomerase activity IEA--
    GO:0042803protein homodimerization activity IEA--
    GO:0043177organic acid binding IEA--


    HMGCS1 for ontologies           About GeneDecksing



    Pathways & Interactions
    for HMGCS1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/11 super-pathways (see all 11) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
    		Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)1.00
    		Fatty acid, triacylglycerol, and ketone body metabolism0.52
    		PPARA Activates Gene Expression0.74
    2Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    		Regulation of Cholesterol Biosynthesis by SREBP (SREBF)1.00
    		SREBP signalling0.46
    		Activation of Gene Expression by SREBP (SREBF)0.67
    3Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    		Metabolic pathways0.38
    4superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)
    		superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)1.00
    		Terpenoid backbone biosynthesis0.71
    		mevalonate pathway I0.86
    5Cholesterol biosynthesis
    		Cholesterol biosynthesis1.00
    		Cholesterol Biosynthesis0.68
    		superpathway of cholesterol biosynthesis0.81

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/7 BioSystems Pathways for HMGCS1 (see all 7) 
        SREBP signalling
    Cholesterol Biosynthesis
    Endochondral Ossification
    superpathway of cholesterol biosynthesis
    FOXA2 and FOXA3 transcription factor networks

    5/9        Reactome Pathways for HMGCS1 (see all 9)
        Metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism
    Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    Expression of Hydroxymethylglutaryl coenzyme A synthase (HMGCS1)
    Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)

    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



    Drugs & Compounds
    for HMGCS1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

    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

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

    Transcripts
    for HMGCS1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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


    miRNA
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    8/49 QIAGEN miScript miRNA Assays for microRNAs that regulate HMGCS1 (see all 49):
    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 plasmid: HMGCS1 3' UTR sequence
    Inhib. RNA
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    Additional cDNA 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):

    BX459844 AL044872 AI521207 AV703430 BX476622 BF197831 BU685534 BQ002743 
    CB163316 CB114547 BQ774574 CB160380 CB162424 AI520729 C00010 BG681747 
    BP361556 AW629580 AI015661 BG231869 AI872413 BM790716 BU618981 T29665 

    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

    Expression
    for HMGCS1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    HMGCS1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ progenitor SK17 (Embryonic Progenitor Cell)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HMGCS1

    Orthologs
    for HMGCS1 gene

    (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 10/40 species (see all 40)    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
    		 --
    		 81(a)
    		 1 ↔ 1
    		 2(6154872-6165753)
    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
    for HMGCS1 gene

    (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


    Genomic Variants
    for HMGCS1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/451 NCBI SNPs in HMGCS1 are shown (see all 451)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 5 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    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
    		--43287174(+) GCTCAC/TGGTCA 2 -- ds50010--------
    rs1451162171,2
    		--43287283(+) TAAAGA/TCCCAC 2 -- ds50010--------
    rs1884807011,2
    		--43287314(+) CAGACA/CATCCA 2 -- ds50010--------
    rs1812999151,2
    		--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--------
    rs774386101,2
    		F,--43287634(+) AGTGAA/CACAAA 2 -- ut311Minor allele frequency- C:0.08WA 118

    HapMap Linkage Disequilibrium report for HMGCS1 (43289493 - 43313614 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for HMGCS1: --

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for HMGCS1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    HMGCS1 for disorders           About GeneDecksing

    OMIM gene information: 142940    OMIM disorders: --

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

    Human Genome Epidemiology (HuGE) Navigator: HMGCS1 (5 documents)

    Export disorders for HMGCS1 gene to outside databases

    Publications
    for HMGCS1 gene

    (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 37):
    (articles sorted by number of sources associating them with HMGCS1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    2. 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)
    3. 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)
    4. 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)
    5. 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)
    6. Transcriptional regulation of HMG-CoA synthase and HMG-CoA reductase genes by human ACBP. (PubMed id 19088433)1, 9 Vock C....Nitz I. (2008)
    7. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    8. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    9. Proteome-wide identification of ubiquitylation sites b y conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (2012)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)

    External Searches for HMGCS1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
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    Genome Databases showing HMGCS1 gene

    (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

    Other Databases showing HMGCS1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing HMGCS1 gene

    (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

    Intellectual Property
    for HMGCS1 gene

    (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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