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    HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 [ Homo sapiens (human) ]

    Gene ID: 3157, updated on 25-Sep-2022

    Summary

    Official Symbol
    HMGCS1provided by HGNC
    Official Full Name
    3-hydroxy-3-methylglutaryl-CoA synthase 1provided by HGNC
    Primary source
    HGNC:HGNC:5007
    See related
    Ensembl:ENSG00000112972 MIM:142940; AllianceGenome:HGNC:5007
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HMGCS
    Summary
    Enables protein homodimerization activity. Predicted to be involved in acetyl-CoA metabolic process and farnesyl diphosphate biosynthetic process, mevalonate pathway. Predicted to be located in cytoplasm. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in brain (RPKM 48.5), liver (RPKM 37.3) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See HMGCS1 in Genome Data Viewer
    Location:
    5p12
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (43287470..43313412, complement)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (43540305..43566247, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (43287572..43313514, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene spermine synthase pseudogene Neighboring gene NIM1 serine/threonine protein kinase Neighboring gene tubulin alpha pseudogene 14 Neighboring gene Sharpr-MPRA regulatory region 4627 Neighboring gene CRISPRi-validated cis-regulatory element chr5.1234 Neighboring gene 60S acidic ribosomal protein P1-like

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of 3-hydroxy-3-methylglutaryl-CoA synthase 1 (HMGCS1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC90332

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables hydroxymethylglutaryl-CoA synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables hydroxymethylglutaryl-CoA synthase activity TAS
    Traceable Author Statement
    more info
     
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in acetyl-CoA metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cholesterol biosynthetic process TAS
    Traceable Author Statement
    more info
     
    involved_in farnesyl diphosphate biosynthetic process, mevalonate pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in lipid metabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    hydroxymethylglutaryl-CoA synthase, cytoplasmic
    Names
    3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) synthase
    3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)
    3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble)
    NP_001091742.1
    NP_001311148.1
    NP_001311149.1
    NP_001311151.1
    NP_001311152.1
    NP_001311153.1
    NP_001317592.1
    NP_001351117.1
    NP_002121.4
    XP_047273091.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001098272.3NP_001091742.1  hydroxymethylglutaryl-CoA synthase, cytoplasmic isoform 1

      See identical proteins and their annotated locations for NP_001091742.1

      Status: VALIDATED

      Source sequence(s)
      AC114947, AK315593
      Consensus CDS
      CCDS34154.1
      UniProtKB/Swiss-Prot
      B2RDL8, Q01581
      UniProtKB/TrEMBL
      A0A024R059
      Related
      ENSP00000322706.6, ENST00000325110.11
      Conserved Domains (1) summary
      TIGR01833
      Location:13469
      HMG-CoA-S_euk; 3-hydroxy-3-methylglutaryl-CoA-synthase, eukaryotic clade
    2. NM_001324219.2NP_001311148.1  hydroxymethylglutaryl-CoA synthase, cytoplasmic isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC114947, AK315593, DA801434
      Consensus CDS
      CCDS34154.1
      UniProtKB/Swiss-Prot
      B2RDL8, Q01581
      UniProtKB/TrEMBL
      A0A024R059
      Conserved Domains (1) summary
      TIGR01833
      Location:13469
      HMG-CoA-S_euk; 3-hydroxy-3-methylglutaryl-CoA-synthase, eukaryotic clade
    3. NM_001324220.2NP_001311149.1  hydroxymethylglutaryl-CoA synthase, cytoplasmic isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC114947, AK315593, BJ995153
      Consensus CDS
      CCDS34154.1
      UniProtKB/Swiss-Prot
      B2RDL8, Q01581
      UniProtKB/TrEMBL
      A0A024R059
      Conserved Domains (1) summary
      TIGR01833
      Location:13469
      HMG-CoA-S_euk; 3-hydroxy-3-methylglutaryl-CoA-synthase, eukaryotic clade
    4. NM_001324222.2NP_001311151.1  hydroxymethylglutaryl-CoA synthase, cytoplasmic isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC114947, AK315593
      UniProtKB/Swiss-Prot
      Q01581
      Conserved Domains (3) summary
      TIGR01833
      Location:13427
      HMG-CoA-S_euk; 3-hydroxy-3-methylglutaryl-CoA-synthase, eukaryotic clade
      pfam08540
      Location:150427
      HMG_CoA_synt_C; Hydroxymethylglutaryl-coenzyme A synthase C terminal
      cl09938
      Location:16150
      cond_enzymes; Condensing enzymes; Family of enzymes that catalyze a (decarboxylating or non-decarboxylating) Claisen-like condensation reaction. Members are share strong structural similarity, and are involved in the synthesis and degradation of fatty acids, and the ...
    5. NM_001324223.2NP_001311152.1  hydroxymethylglutaryl-CoA synthase, cytoplasmic isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC114947, AK315593, DB074885
      UniProtKB/Swiss-Prot
      Q01581
    6. NM_001324224.2NP_001311153.1  hydroxymethylglutaryl-CoA synthase, cytoplasmic isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC114947, AK315593, BJ995153
      UniProtKB/Swiss-Prot
      Q01581
    7. NM_001330663.2NP_001317592.1  hydroxymethylglutaryl-CoA synthase, cytoplasmic isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC114947
      Consensus CDS
      CCDS34154.1
      UniProtKB/Swiss-Prot
      B2RDL8, Q01581
      UniProtKB/TrEMBL
      A0A024R059
      Conserved Domains (1) summary
      TIGR01833
      Location:13469
      HMG-CoA-S_euk; 3-hydroxy-3-methylglutaryl-CoA-synthase, eukaryotic clade
    8. NM_001364188.2NP_001351117.1  hydroxymethylglutaryl-CoA synthase, cytoplasmic isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC114947
      UniProtKB/Swiss-Prot
      B2RDL8
      UniProtKB/TrEMBL
      A0A024R059
      Conserved Domains (1) summary
      TIGR01833
      Location:13469
      HMG-CoA-S_euk; 3-hydroxy-3-methylglutaryl-CoA-synthase, eukaryotic clade
    9. NM_002130.8NP_002121.4  hydroxymethylglutaryl-CoA synthase, cytoplasmic isoform 1

      See identical proteins and their annotated locations for NP_002121.4

      Status: VALIDATED

      Source sequence(s)
      AC114947
      Consensus CDS
      CCDS34154.1
      UniProtKB/Swiss-Prot
      B2RDL8, Q01581
      UniProtKB/TrEMBL
      A0A024R059
      Related
      ENSP00000399402.2, ENST00000433297.2
      Conserved Domains (1) summary
      TIGR01833
      Location:13469
      HMG-CoA-S_euk; 3-hydroxy-3-methylglutaryl-CoA-synthase, eukaryotic clade

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      43287470..43313412 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047417135.1XP_047273091.1  hydroxymethylglutaryl-CoA synthase, cytoplasmic isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      43540305..43566247 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)