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

    Gene ID: 84532, updated on 3-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ACSS1 in Genome Data Viewer
    Location:
    20p11.21
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (25006237..25058139, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (25070421..25122324, complement)
    RS_2024_09 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

    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?

    Phenotypes

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 ethanol catabolic process TAS
    Traceable Author Statement
    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
     
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    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)

    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_001252675.2NP_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:64665
      ACS; Acetyl-CoA synthetase (also known as acetate-CoA ligase and acetyl-activating enzyme)
      TIGR02188
      Location:54674
      Ac_CoA_lig_AcsA; acetate--CoA ligase
    2. NM_001252676.2NP_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:23543
      Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]
      cl17068
      Location:23546
      AFD_class_I; Adenylate forming domain, Class I superfamily
    3. NM_001252677.2NP_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:115555
      AMP-binding; AMP-binding enzyme
      cl17068
      Location:64555
      AFD_class_I; Adenylate forming domain, Class I superfamily
    4. NM_032501.4NP_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:54676
      Ac_CoA_lig_AcsA; acetate--CoA ligase

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

    mRNA and Protein(s)

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

      UniProtKB/TrEMBL
      Q658X4
      Conserved Domains (2) summary
      TIGR02188
      Location:54471
      Ac_CoA_lig_AcsA; acetate--CoA ligase
      cl17068
      Location:64462
      AFD_class_I; Adenylate forming domain, Class I superfamily
    2. XM_047440557.1XP_047296513.1  acetyl-coenzyme A synthetase 2-like, mitochondrial isoform X3

    3. XM_047440556.1XP_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_054324142.1XP_054180117.1  acetyl-coenzyme A synthetase 2-like, mitochondrial isoform X2

      UniProtKB/TrEMBL
      Q658X4
    2. XM_054324143.1XP_054180118.1  acetyl-coenzyme A synthetase 2-like, mitochondrial isoform X3

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