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    ACSS2 acyl-CoA synthetase short chain family member 2 [ Homo sapiens (human) ]

    Gene ID: 55902, updated on 3-Nov-2024

    Summary

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    Official Symbol
    ACSS2provided by HGNC
    Official Full Name
    acyl-CoA synthetase short chain family member 2provided by HGNC
    Primary source
    HGNC:HGNC:15814
    See related
    Ensembl:ENSG00000131069 MIM:605832; AllianceGenome:HGNC:15814
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ACS; ACSA; ACAS2; ACECS; AceCS1; dJ1161H23.1
    Summary
    This gene encodes a cytosolic enzyme that catalyzes the activation of acetate for use in lipid synthesis and energy generation. The protein acts as a monomer and produces acetyl-CoA from acetate in a reaction that requires ATP. Expression of this gene is regulated by sterol regulatory element-binding proteins, transcription factors that activate genes required for the synthesis of cholesterol and unsaturated fatty acids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]
    Expression
    Broad expression in fat (RPKM 49.2), duodenum (RPKM 47.1) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ACSS2 in Genome Data Viewer
    Location:
    20q11.22
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (34874989..34927959)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (36595583..36648613)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (33462792..33515762)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene high mobility group box 3 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:33450836-33451387 Neighboring gene gamma-glutamyltransferase 7 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12849 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17768 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17769 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12850 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12851 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:33508643-33509842 Neighboring gene glutathione synthetase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17770 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17771 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:33554901-33555058 Neighboring gene myosin heavy chain 7B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33568001-33568552 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33571861-33572412 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33573515-33574066 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:33574067-33574618 Neighboring gene microRNA 499a Neighboring gene microRNA 499b

    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 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. [Knockdown of ACSS2 inhibits invasion and migration of cervical cancer cells induced by nutrient stress and its mechanism]. Su Y, et al. Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi, 2019 Oct. PMID 31814569
    2. Downregulation of acetyl-CoA synthetase 2 is a metabolic hallmark of tumor progression and aggressiveness in colorectal carcinoma. Bae JM, et al. Mod Pathol, 2017 Feb. PMID 27713423
    3. Acetate Recapturing by Nuclear Acetyl-CoA Synthetase 2 Prevents Loss of Histone Acetylation during Oxygen and Serum Limitation. Bulusu V, et al. Cell Rep, 2017 Jan 17. PMID 28099844, Free PMC Article
    4. Local histone acetylation by ACSS2 promotes gene transcription for lysosomal biogenesis and autophagy. Li X, et al. Autophagy, 2017 Oct 3. PMID 28820290, Free PMC Article
    5. Acetyl-CoA Synthetase 2 Promotes Cell Migration and Invasion of Renal Cell Carcinoma by Upregulating Lysosomal-Associated Membrane Protein 1 Expression. Yao L, et al. Cell Physiol Biochem, 2018. PMID 29444517

    See all (53) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Proteomic profiling reveals ACSS2 facilitating metabolic support in acute myeloid leukemia.
      Title: Proteomic profiling reveals ACSS2 facilitating metabolic support in acute myeloid leukemia.
    2. ACSS2 gene variants determine kidney disease risk by controlling de novo lipogenesis in kidney tubules.
      Title: ACSS2 gene variants determine kidney disease risk by controlling de novo lipogenesis in kidney tubules.
    3. ACSS2-mediated NF-kappaB activation promotes alkaliptosis in human pancreatic cancer cells.
      Title: ACSS2-mediated NF-κB activation promotes alkaliptosis in human pancreatic cancer cells.
    4. Acetyl-Coenzyme A Synthetase 2 Potentiates Macropinocytosis and Muscle Wasting Through Metabolic Reprogramming in Pancreatic Cancer.
      Title: Acetyl-Coenzyme A Synthetase 2 Potentiates Macropinocytosis and Muscle Wasting Through Metabolic Reprogramming in Pancreatic Cancer.
    5. O-GlcNAc transferase regulates glioblastoma acetate metabolism via regulation of CDK5-dependent ACSS2 phosphorylation.
      Title: O-GlcNAc transferase regulates glioblastoma acetate metabolism via regulation of CDK5-dependent ACSS2 phosphorylation.
    6. Mammalian acetate-dependent acetyl CoA synthetase 2 contains multiple protein destabilization and masking elements.
      Title: Mammalian acetate-dependent acetyl CoA synthetase 2 contains multiple protein destabilization and masking elements.
    7. the alternative transcription start site selection of ACSS2 was significantly different between hepatocellular carcinoma and corresponding adjacent tissues.
      Title: Alternative transcription start site selection in ACSS2 controls its nuclear localization and promotes ribosome biosynthesis in hepatocellular carcinoma.
    8. Low ACSS2 expression is associated with Abdominal Aortic Aneurysm.
      Title: miR-30a-GNG2 and miR-15b-ACSS2 Interaction Pairs May Be Potentially Crucial for Development of Abdominal Aortic Aneurysm by Influencing Inflammation.
    9. Silencing ACSS2 expression inhibits migration and invasion of cervical cancer cells induced by nutrient stress, which is related to down-regulated Wnt/beta-catenin signaling pathway activity.
      Title: [Knockdown of ACSS2 inhibits invasion and migration of cervical cancer cells induced by nutrient stress and its mechanism].
    10. Results suggest that ACSS2 gene is associated with human alcoholism and ethanol intake in a free-choice animal model, and even the compulsive-like behavior associated with ethanol use. Finally, slight alterations in metabolism could be responsible for the difference between ethanol non-preferring, ethanol-preferring and compulsive-like ethanol consumption.
      Title: Possible involvement of ACSS2 gene in alcoholism.
    Submit: New GeneRIF Correction See all GeneRIFs (32)

    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)

    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

    • DKFZp762G026

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables AMP binding IC
    Inferred by Curator
    more info
    		 PubMed 
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables acetate-CoA ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables acetate-CoA ligase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables acetate-CoA ligase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables acetate-CoA ligase activity TAS
    Traceable Author Statement
    more info
    		  
    enables chromatin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables propionate-CoA ligase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription coactivator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in acetate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in acetyl-CoA biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in acetyl-CoA biosynthetic process from acetate IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ethanol catabolic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in lipid biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in long-term memory ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in propionate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IC
    Inferred by Curator
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    acetyl-coenzyme A synthetase, cytoplasmic
    Names
    acetate thiokinase
    acetate-CoA ligase
    acetyl-CoA synthetase 1
    acetyl-Coenzyme A synthetase 2 (ADP forming)
    acyl-activating enzyme
    cytoplasmic acetyl-coenzyme A synthetase
    propionate--CoA ligase
    NP_001070020.2
    NP_001229322.1
    NP_061147.1
    XP_005260512.1
    XP_005260513.1
    XP_011527207.1
    XP_011527208.1
    XP_011527209.1
    XP_011527210.1
    XP_011527211.1
    XP_011527213.1
    XP_047296249.1
    XP_047296250.1
    XP_054179667.1
    XP_054179668.1
    XP_054179669.1
    XP_054179670.1
    XP_054179671.1
    XP_054179672.1
    XP_054179673.1
    XP_054179674.1
    XP_054179675.1
    XP_054179676.1

    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.

    Genomic

    1. NG_011520.1 RefSeqGene

      Range
      6671..58018
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001076552.3 → NP_001070020.2  acetyl-coenzyme A synthetase, cytoplasmic isoform 2

      See identical proteins and their annotated locations for NP_001070020.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) includes an alternate in-frame exon in the central coding region, compared to variant 1, resulting in a longer isoform (2), compared to isoform 1.
      Source sequence(s)
      AK092281, BC010141, DA411343
      Consensus CDS
      CCDS42868.2
      UniProtKB/TrEMBL
      Q6DKJ3
      Related
      ENSP00000253382.5, ENST00000253382.5
      Conserved Domains (2) summary
      cd05966
      Location:51 → 698
      ACS; Acetyl-CoA synthetase (also known as acetate-CoA ligase and acetyl-activating enzyme)
      PRK00174
      Location:31 → 705
      PRK00174; acetyl-CoA synthetase; Provisional

    2. NM_001242393.2 → NP_001229322.1  acetyl-coenzyme A synthetase, cytoplasmic isoform 3

      See identical proteins and their annotated locations for NP_001229322.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AK000162, BC010141, DA626707
      UniProtKB/TrEMBL
      A6NLR6, Q4G0E8, Q6DKJ3
      Conserved Domains (2) summary
      cd05966
      Location:1 → 590
      ACS; Acetyl-CoA synthetase (also known as acetate-CoA ligase and acetyl-activating enzyme)
      TIGR02188
      Location:2 → 597
      Ac_CoA_lig_AcsA; acetate--CoA ligase

    3. NM_018677.4 → NP_061147.1  acetyl-coenzyme A synthetase, cytoplasmic isoform 1

      See identical proteins and their annotated locations for NP_061147.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the predominant isoform (1).
      Source sequence(s)
      BC073846, DA411343
      Consensus CDS
      CCDS13243.1
      UniProtKB/Swiss-Prot
      A6NE90, Q5QPH2, Q5QPH3, Q8N238, Q96EL0, Q9NQP7, Q9NR19, Q9UJ15
      UniProtKB/TrEMBL
      Q6DKJ3
      Related
      ENSP00000353804.2, ENST00000360596.7
      Conserved Domains (1) summary
      cd05966
      Location:45 → 685
      ACS; Acetyl-CoA synthetase (also known as acetate-CoA ligase and acetyl-activating enzyme)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      34874989..34927959
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011528909.3 → XP_011527211.1  acetyl-coenzyme A synthetase, cytoplasmic isoform X7

      UniProtKB/TrEMBL
      Q6DKJ3
      Conserved Domains (2) summary
      cd05966
      Location:10 → 671
      ACS; Acetyl-CoA synthetase (also known as acetate-CoA ligase and acetyl-activating enzyme)
      PRK00174
      Location:10 → 678
      PRK00174; acetyl-CoA synthetase; Provisional

    2. XM_011528911.2 → XP_011527213.1  acetyl-coenzyme A synthetase, cytoplasmic isoform X8

      UniProtKB/TrEMBL
      Q6DKJ3
      Conserved Domains (2) summary
      cd05966
      Location:10 → 658
      ACS; Acetyl-CoA synthetase (also known as acetate-CoA ligase and acetyl-activating enzyme)
      PRK00174
      Location:10 → 665
      PRK00174; acetyl-CoA synthetase; Provisional

    3. XM_047440293.1 → XP_047296249.1  acetyl-coenzyme A synthetase, cytoplasmic isoform X9

    4. XM_047440294.1 → XP_047296250.1  acetyl-coenzyme A synthetase, cytoplasmic isoform X10

    5. XM_011528905.2 → XP_011527207.1  acetyl-coenzyme A synthetase, cytoplasmic isoform X1

      UniProtKB/TrEMBL
      Q6DKJ3
      Conserved Domains (2) summary
      cd05966
      Location:51 → 721
      ACS; Acetyl-CoA synthetase (also known as acetate-CoA ligase and acetyl-activating enzyme)
      PRK00174
      Location:31 → 728
      PRK00174; acetyl-CoA synthetase; Provisional

    6. XM_011528906.2 → XP_011527208.1  acetyl-coenzyme A synthetase, cytoplasmic isoform X2

      UniProtKB/TrEMBL
      Q6DKJ3
      Conserved Domains (2) summary
      cd05966
      Location:51 → 711
      ACS; Acetyl-CoA synthetase (also known as acetate-CoA ligase and acetyl-activating enzyme)
      PRK00174
      Location:31 → 718
      PRK00174; acetyl-CoA synthetase; Provisional

    7. XM_011528907.2 → XP_011527209.1  acetyl-coenzyme A synthetase, cytoplasmic isoform X3

      UniProtKB/TrEMBL
      Q6DKJ3
      Conserved Domains (2) summary
      cd05966
      Location:51 → 708
      ACS; Acetyl-CoA synthetase (also known as acetate-CoA ligase and acetyl-activating enzyme)
      PRK00174
      Location:31 → 715
      PRK00174; acetyl-CoA synthetase; Provisional

    8. XM_011528908.2 → XP_011527210.1  acetyl-coenzyme A synthetase, cytoplasmic isoform X5

      See identical proteins and their annotated locations for XP_011527210.1

      UniProtKB/TrEMBL
      Q6DKJ3
      Conserved Domains (2) summary
      cd05966
      Location:51 → 698
      ACS; Acetyl-CoA synthetase (also known as acetate-CoA ligase and acetyl-activating enzyme)
      PRK00174
      Location:31 → 705
      PRK00174; acetyl-CoA synthetase; Provisional

    9. XM_005260455.3 → XP_005260512.1  acetyl-coenzyme A synthetase, cytoplasmic isoform X4

      UniProtKB/TrEMBL
      Q6DKJ3
      Conserved Domains (2) summary
      cd05966
      Location:51 → 708
      ACS; Acetyl-CoA synthetase (also known as acetate-CoA ligase and acetyl-activating enzyme)
      PRK00174
      Location:31 → 715
      PRK00174; acetyl-CoA synthetase; Provisional

    10. XM_005260456.3 → XP_005260513.1  acetyl-coenzyme A synthetase, cytoplasmic isoform X6

      UniProtKB/TrEMBL
      Q6DKJ3
      Conserved Domains (2) summary
      cd05966
      Location:51 → 695
      ACS; Acetyl-CoA synthetase (also known as acetate-CoA ligase and acetyl-activating enzyme)
      PRK00174
      Location:31 → 702
      PRK00174; acetyl-CoA synthetase; Provisional

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      36595583..36648613
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323699.1 → XP_054179674.1  acetyl-coenzyme A synthetase, cytoplasmic isoform X8

    2. XM_054323701.1 → XP_054179676.1  acetyl-coenzyme A synthetase, cytoplasmic isoform X10

    3. XM_054323698.1 → XP_054179673.1  acetyl-coenzyme A synthetase, cytoplasmic isoform X7

    4. XM_054323700.1 → XP_054179675.1  acetyl-coenzyme A synthetase, cytoplasmic isoform X9

    5. XM_054323692.1 → XP_054179667.1  acetyl-coenzyme A synthetase, cytoplasmic isoform X1

    6. XM_054323693.1 → XP_054179668.1  acetyl-coenzyme A synthetase, cytoplasmic isoform X2

    7. XM_054323694.1 → XP_054179669.1  acetyl-coenzyme A synthetase, cytoplasmic isoform X3

    8. XM_054323696.1 → XP_054179671.1  acetyl-coenzyme A synthetase, cytoplasmic isoform X5

    9. XM_054323695.1 → XP_054179670.1  acetyl-coenzyme A synthetase, cytoplasmic isoform X4

    10. XM_054323697.1 → XP_054179672.1  acetyl-coenzyme A synthetase, cytoplasmic isoform X6

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_139274.1: Suppressed sequence

      Description
      NM_139274.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NR19.1 GenPept UniProtKB/Swiss-Prot:Q9NR19

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