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    ACSS1 acyl-CoA synthetase short chain family member 1 [ Homo sapiens (human) ]

    Gene ID: 84532, updated on 11-Apr-2024

    Summary

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    Official Symbol
    ACSS1provided by HGNC
    Official Full Name
    acyl-CoA synthetase short chain family member 1provided by HGNC
    Primary source
    HGNC:HGNC:16091
    See related
    Ensembl:ENSG00000154930 MIM:614355; AllianceGenome:HGNC:16091
    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
    ACAS2L; ACECS1; AceCS2L
    Summary
    This gene encodes a mitochondrial acetyl-CoA synthetase enzyme. A similar protein in mice plays an important role in the tricarboxylic acid cycle by catalyzing the conversion of acetate to acetyl CoA. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
    Expression
    Broad expression in placenta (RPKM 70.4), duodenum (RPKM 23.0) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    20p11.21
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (25006237..25058139, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (25070421..25122324, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (24986873..25038775, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17653 Neighboring gene cystatin F Neighboring gene adipocyte plasma membrane associated protein Neighboring gene RNA, U6 small nuclear 1257, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:24960021-24960521 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:24961283-24961783 Neighboring gene H3K27ac hESC enhancers GRCh37_chr20:24972940-24973440 and GRCh37_chr20:24973441-24973941 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17657 Neighboring gene Sharpr-MPRA regulatory region 14776 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12738 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17658 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17659 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12739 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:25038651-25039256 Neighboring gene uncharacterized LOC124904882 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:25052223-25052743 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:25062766-25063295 Neighboring gene visual system homeobox 1

    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. Gene network analysis reveals a novel 22-gene signature of carbon metabolism in hepatocellular carcinoma. Zhang J, et al. Oncotarget, 2016 Aug 2. PMID 27363021, Free PMC Article
    2. A novel Acetyl-CoA synthetase short-chain subfamily member 1 (Acss1) gene indicates a dynamic history of paralogue retention and loss in vertebrates. Castro LF, et al. Gene, 2012 Apr 15. PMID 22313524
    3. The importance of acetyl coenzyme A synthetase for 11C-acetate uptake and cell survival in hepatocellular carcinoma. Yun M, et al. J Nucl Med, 2009 Aug. PMID 19617323
    4. Crystal structures of human SIRT3 displaying substrate-induced conformational changes. Jin L, et al. J Biol Chem, 2009 Sep 4. PMID 19535340, Free PMC Article
    5. Glucose-independent Acetate Metabolism Promotes Melanoma Cell Survival and Tumor Growth. Lakhter AJ, et al. J Biol Chem, 2016 Oct 14. PMID 27539851, Free PMC Article

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identifying Acss1, Mtfp1 and Oxct1 as key regulators and promising biomarkers of sarcopenia in various models.
      Title: Identifying Acss1, Mtfp1 and Oxct1 as key regulators and promising biomarkers of sarcopenia in various models.
    2. citrate synthase and ACSS1 have tumorigenic functions in hepatocellular carcinoma
      Title: Gene network analysis reveals a novel 22-gene signature of carbon metabolism in hepatocellular carcinoma.
    3. ACSS1 is essential for glucose-independent acetate-mediated cell survival and tumor growth.
      Title: Glucose-independent Acetate Metabolism Promotes Melanoma Cell Survival and Tumor Growth.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Common genetic variation and performance on standardized cognitive tests.
    EBI GWAS Catalog

    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

    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

    • FLJ45659, MGC33843

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables AMP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables acetate-CoA ligase activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    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 propionate-CoA ligase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in acetyl-CoA biosynthetic process from acetate IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in propionate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    acetyl-coenzyme A synthetase 2-like, mitochondrial
    Names
    acetate--CoA ligase 2
    propionate--CoA ligase
    NP_001239604.1
    NP_001239605.1
    NP_001239606.1
    NP_115890.2
    XP_006723722.1
    XP_047296512.1
    XP_047296513.1
    XP_054180116.1
    XP_054180117.1
    XP_054180118.1

    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_001252675.2 → NP_001239604.1  acetyl-coenzyme A synthetase 2-like, mitochondrial isoform 2 precursor

      See identical proteins and their annotated locations for NP_001239604.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AK092295, AK125923, BC044588, BM150326
      UniProtKB/TrEMBL
      Q7Z5G3
      Conserved Domains (2) summary
      cd05966
      Location:64 → 665
      ACS; Acetyl-CoA synthetase (also known as acetate-CoA ligase and acetyl-activating enzyme)
      TIGR02188
      Location:54 → 674
      Ac_CoA_lig_AcsA; acetate--CoA ligase

    2. NM_001252676.2 → NP_001239605.1  acetyl-coenzyme A synthetase 2-like, mitochondrial isoform 3

      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 an alternate start codon, compared to variant 1. The encoded isoform (3) is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AK125923, AK296306, AK314440, DC404033
      Consensus CDS
      CCDS58764.1
      UniProtKB/TrEMBL
      Q6ZV30
      Related
      ENSP00000439304.2, ENST00000537502.5
      Conserved Domains (2) summary
      COG0365
      Location:23 → 543
      Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]
      cl17068
      Location:23 → 546
      AFD_class_I; Adenylate forming domain, Class I superfamily

    3. NM_001252677.2 → NP_001239606.1  acetyl-coenzyme A synthetase 2-like, mitochondrial isoform 4 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in the 3' coding region, which results in a translational frameshift, compared to variant 1. The encoded isoform (4) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK125923, AK127566, BC114612, BM150326
      Consensus CDS
      CCDS58765.1
      UniProtKB/TrEMBL
      Q7Z5G3
      Related
      ENSP00000388793.2, ENST00000432802.6
      Conserved Domains (2) summary
      pfam00501
      Location:115 → 555
      AMP-binding; AMP-binding enzyme
      cl17068
      Location:64 → 555
      AFD_class_I; Adenylate forming domain, Class I superfamily

    4. NM_032501.4 → NP_115890.2  acetyl-coenzyme A synthetase 2-like, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_115890.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK125923, AK314440, BM150326
      Consensus CDS
      CCDS13167.1
      UniProtKB/Swiss-Prot
      B3KXL2, B4DJZ3, D3DW48, F5H6F4, F8W7Y1, Q5TF42, Q8IV99, Q8N234, Q96JI1, Q96JX6, Q9NU28, Q9NUB1
      UniProtKB/TrEMBL
      Q7Z5G3
      Related
      ENSP00000316924.4, ENST00000323482.9
      Conserved Domains (1) summary
      TIGR02188
      Location:54 → 676
      Ac_CoA_lig_AcsA; acetate--CoA ligase

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      25006237..25058139 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006723659.2 → XP_006723722.1  acetyl-coenzyme A synthetase 2-like, mitochondrial isoform X2

      UniProtKB/TrEMBL
      Q658X4
      Conserved Domains (2) summary
      TIGR02188
      Location:54 → 471
      Ac_CoA_lig_AcsA; acetate--CoA ligase
      cl17068
      Location:64 → 462
      AFD_class_I; Adenylate forming domain, Class I superfamily

    2. XM_047440557.1 → XP_047296513.1  acetyl-coenzyme A synthetase 2-like, mitochondrial isoform X3

    3. XM_047440556.1 → XP_047296512.1  acetyl-coenzyme A synthetase 2-like, mitochondrial isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      25070421..25122324 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324142.1 → XP_054180117.1  acetyl-coenzyme A synthetase 2-like, mitochondrial isoform X2

    2. XM_054324143.1 → XP_054180118.1  acetyl-coenzyme A synthetase 2-like, mitochondrial isoform X3

    3. XM_054324141.1 → XP_054180116.1  acetyl-coenzyme A synthetase 2-like, mitochondrial isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NUB1.2 GenPept UniProtKB/Swiss-Prot:Q9NUB1

    Gene LinkOut

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

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