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

    Gene ID: 3157, updated on 7-Apr-2024

    Summary

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    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
    mouse all
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    Genomic context

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    See HMGCS1 in Genome Data Viewer
    Location:
    5p12
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (43287470..43313412, complement)
    RS_2023_10 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 ATAC-STARR-seq lymphoblastoid active region 22535 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22536 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22537 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:43313910-43314426 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:43314427-43314941 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:43315036-43316235 Neighboring gene CRISPRi-validated cis-regulatory element chr5.1234 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:43335752-43336951 Neighboring gene 60S acidic ribosomal protein P1-like Neighboring gene C-C motif chemokine ligand 28 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22538 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15993 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15994

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Antidiabetic drug metformin suppresses tumorigenesis through inhibition of mevalonate pathway enzyme HMGCS1. Chen Y, et al. J Biol Chem, 2022 Dec. PMID 36356901, Free PMC Article
    2. Compartmentalized activities of HMGCS1 control cervical cancer radiosensitivity. Zhang X, et al. Cell Signal, 2023 Jan. PMID 36328117
    3. Pan-cancer analysis reveals the oncogenic role of 3-hydroxy-3-methylglutaryl-CoA synthase 1. Zhou C, et al. Cancer Rep (Hoboken), 2022 Sep. PMID 34549901, Free PMC Article
    4. HMGCS1 drives drug-resistance in acute myeloid leukemia through endoplasmic reticulum-UPR-mitochondria axis. Zhou C, et al. Biomed Pharmacother, 2021 May. PMID 33601148
    5. Umbilical cord plasma-derived exosomes from preeclamptic women induce vascular dysfunction by targeting HMGCS1 in endothelial cells. Ying X, et al. Placenta, 2021 Jan 1. PMID 33120050

    See all (62) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. P4HA1 activates HMGCS1 to promote nasopharyngeal carcinoma ferroptosis resistance and progression.
      Title: P4HA1 activates HMGCS1 to promote nasopharyngeal carcinoma ferroptosis resistance and progression.
    2. VIMAS1 promotes proliferation and drives enzalutamide resistance in prostate cancer via IGF2BP2mediated HMGCS1 mRNA stabilization.
      Title: VIM‑AS1 promotes proliferation and drives enzalutamide resistance in prostate cancer via IGF2BP2‑mediated HMGCS1 mRNA stabilization.
    3. Antidiabetic drug metformin suppresses tumorigenesis through inhibition of mevalonate pathway enzyme HMGCS1.
      Title: Antidiabetic drug metformin suppresses tumorigenesis through inhibition of mevalonate pathway enzyme HMGCS1.
    4. Compartmentalized activities of HMGCS1 control cervical cancer radiosensitivity.
      Title: Compartmentalized activities of HMGCS1 control cervical cancer radiosensitivity.
    5. Pan-cancer analysis reveals the oncogenic role of 3-hydroxy-3-methylglutaryl-CoA synthase 1.
      Title: Pan-cancer analysis reveals the oncogenic role of 3-hydroxy-3-methylglutaryl-CoA synthase 1.
    6. Interaction of Gal-7 with HMGCS1 In Vitro May Facilitate Cholesterol Deposition in Cultured Keratinocytes.
      Title: Interaction of Gal-7 with HMGCS1 In Vitro May Facilitate Cholesterol Deposition in Cultured Keratinocytes.
    7. circHMGCS1-016 reshapes immune environment by sponging miR-1236-3p to regulate CD73 and GAL-8 expression in intrahepatic cholangiocarcinoma.
      Title: circHMGCS1-016 reshapes immune environment by sponging miR-1236-3p to regulate CD73 and GAL-8 expression in intrahepatic cholangiocarcinoma.
    8. Umbilical cord plasma-derived exosomes from preeclamptic women induce vascular dysfunction by targeting HMGCS1 in endothelial cells.
      Title: Umbilical cord plasma-derived exosomes from preeclamptic women induce vascular dysfunction by targeting HMGCS1 in endothelial cells.
    9. TDP-43 mediates SREBF2-regulated gene expression required for oligodendrocyte myelination.
      Title: TDP-43 mediates SREBF2-regulated gene expression required for oligodendrocyte myelination.
    10. HMGCS1 drives drug-resistance in acute myeloid leukemia through endoplasmic reticulum-UPR-mitochondria axis.
      Title: HMGCS1 drives drug-resistance in acute myeloid leukemia through endoplasmic reticulum-UPR-mitochondria axis.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    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

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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
    		  
    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
    		  
    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
    		  
    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 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    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
    XP_054208462.1

    NCBI Reference Sequences (RefSeq)

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    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_001098272.3 → NP_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
      Q8N995
      Related
      ENSP00000322706.6, ENST00000325110.11
      Conserved Domains (1) summary
      TIGR01833
      Location:13 → 469
      HMG-CoA-S_euk; 3-hydroxy-3-methylglutaryl-CoA-synthase, eukaryotic clade

    2. NM_001324219.2 → NP_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
      Q8N995
      Conserved Domains (1) summary
      TIGR01833
      Location:13 → 469
      HMG-CoA-S_euk; 3-hydroxy-3-methylglutaryl-CoA-synthase, eukaryotic clade

    3. NM_001324220.2 → NP_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
      Q8N995
      Conserved Domains (1) summary
      TIGR01833
      Location:13 → 469
      HMG-CoA-S_euk; 3-hydroxy-3-methylglutaryl-CoA-synthase, eukaryotic clade

    4. NM_001324222.2 → NP_001311151.1  hydroxymethylglutaryl-CoA synthase, cytoplasmic isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC114947, AK315593
      UniProtKB/TrEMBL
      Q8N995
      Conserved Domains (3) summary
      TIGR01833
      Location:13 → 427
      HMG-CoA-S_euk; 3-hydroxy-3-methylglutaryl-CoA-synthase, eukaryotic clade
      pfam08540
      Location:150 → 427
      HMG_CoA_synt_C; Hydroxymethylglutaryl-coenzyme A synthase C terminal
      cl09938
      Location:16 → 150
      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_001324223.2 → NP_001311152.1  hydroxymethylglutaryl-CoA synthase, cytoplasmic isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC114947, AK315593, DB074885
      UniProtKB/TrEMBL
      Q8N995

    6. NM_001324224.2 → NP_001311153.1  hydroxymethylglutaryl-CoA synthase, cytoplasmic isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC114947, AK315593, BJ995153
      UniProtKB/TrEMBL
      Q8N995

    7. NM_001330663.2 → NP_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
      Q8N995
      Conserved Domains (1) summary
      TIGR01833
      Location:13 → 469
      HMG-CoA-S_euk; 3-hydroxy-3-methylglutaryl-CoA-synthase, eukaryotic clade

    8. NM_001364188.2 → NP_001351117.1  hydroxymethylglutaryl-CoA synthase, cytoplasmic isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC114947
      Consensus CDS
      CCDS34154.1
      UniProtKB/Swiss-Prot
      B2RDL8, Q01581
      UniProtKB/TrEMBL
      Q8N995
      Conserved Domains (1) summary
      TIGR01833
      Location:13 → 469
      HMG-CoA-S_euk; 3-hydroxy-3-methylglutaryl-CoA-synthase, eukaryotic clade

    9. NM_002130.8 → NP_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
      Q8N995
      Related
      ENSP00000399402.2, ENST00000433297.2
      Conserved Domains (1) summary
      TIGR01833
      Location:13 → 469
      HMG-CoA-S_euk; 3-hydroxy-3-methylglutaryl-CoA-synthase, eukaryotic clade

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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_047417135.1 → XP_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)

    mRNA and Protein(s)

    1. XM_054352487.1 → XP_054208462.1  hydroxymethylglutaryl-CoA synthase, cytoplasmic isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q01581.2 GenPept UniProtKB/Swiss-Prot:Q01581

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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