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    ACSS3 acyl-CoA synthetase short chain family member 3 [ Homo sapiens (human) ]

    Gene ID: 79611, updated on 8-Jul-2018
    Official Symbol
    ACSS3provided by HGNC
    Official Full Name
    acyl-CoA synthetase short chain family member 3provided by HGNC
    Primary source
    HGNC:HGNC:24723
    See related
    Ensembl:ENSG00000111058 MIM:614356; Vega:OTTHUMG00000170179
    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
    Expression
    Broad expression in fat (RPKM 16.6), liver (RPKM 14.1) and 17 other tissues See more
    Orthologs
    See ACSS3 in Genome Data Viewer
    Location:
    12q21.31
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (81078018..81256759)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (81471797..81650538)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene tripartite motif-containing 75 pseudogene Neighboring gene lin-7 homolog A, crumbs cell polarity complex component Neighboring gene uncharacterized LOC105369869 Neighboring gene microRNA 618 Neighboring gene uncharacterized LOC107984535 Neighboring gene microRNA 4699 Neighboring gene PPFIA2 antisense RNA 1 Neighboring gene PTPRF interacting protein alpha 2 Neighboring gene uncharacterized LOC105369872

    • 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 Jun 15 11:32:44 2016

    NHGRI GWAS Catalog

    Description
    A genome-wide association meta-analysis of plasma Aβ peptides concentrations in the elderly.
    NHGRI GWA Catalog
    A genome-wide association study of a sustained pattern of antidepressant response.
    NHGRI GWA Catalog
    Electronic medical records and genomics (eMERGE) network exploration in cataract: Several new potential susceptibility loci.
    NHGRI GWA Catalog
    • Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystem (from REACTOME)
      Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystemThe reactions involved in the metabolism of fatty acids and of the triacylglycerols and ketone bodies derived from them form a closely interrelated, coordinately regulated module that plays a central...
    • Ketone body metabolism, organism-specific biosystem (from REACTOME)
      Ketone body metabolism, organism-specific biosystemAcetoacetate, beta-hydroxybutyrate, and acetone collectively are called ketone bodies. The first two are synthesized from acetyl-CoA, in the mitochondria of liver cells; acetone is formed by spontane...
    • Metabolic pathways, organism-specific biosystem (from KEGG)
      Metabolic pathways, organism-specific biosystem
      Metabolic pathways
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
      Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
    • Propanoate metabolism, organism-specific biosystem (from KEGG)
      Propanoate metabolism, organism-specific biosystem
      Propanoate metabolism
    • Propanoate metabolism, conserved biosystem (from KEGG)
      Propanoate metabolism, conserved biosystem
      Propanoate metabolism
    • Synthesis of Ketone Bodies, organism-specific biosystem (from REACTOME)
      Synthesis of Ketone Bodies, organism-specific biosystemIn a healthy, well-nourished individual, the production of ketone bodies occurs at a relatively low rate. During periods of normal physiological responses to carbohydrate shortages, the liver increas...
    • acetate conversion to acetyl-CoA, organism-specific biosystem (from BIOCYC)
      acetate conversion to acetyl-CoA, organism-specific biosystem: HS05484-MONOMER catalyzes the activation of acetate with coenzyme A for use in lipid synthesis and energy generation . The gene encoding this protein has been cloned and expressed in human cells, ...
    • ethanol degradation II, organism-specific biosystem (from BIOCYC)
      ethanol degradation II, organism-specific biosystemThis ethanol degradation pathway begins with conversion of ethanol to acetaldehyde by cytosolic alcohol dehydrogenase. The resulting acetaldehyde passes into the mitochondrial compartment where it is...
    • ethanol degradation IV, organism-specific biosystem (from BIOCYC)
      ethanol degradation IV, organism-specific biosystemThis ethanol degradation pathway begins with conversion of ethanol to acetaldehyde by peroxisomal catalase . The resulting acetaldehyde passes from the peroxisome to the cytoplasm and into the mitoch...
    • oxidative ethanol degradation III, organism-specific biosystem (from BIOCYC)
      oxidative ethanol degradation III, organism-specific biosystemThis ethanol degradation pathway begins with conversion of ethanol to acetaldehyde by the endoplasmic reticulum (ER) Microsomal Ethanol Oxidising System (MEOS) ( page 90). This ER system is also kno...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ21963

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    acetate-CoA ligase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    ketone body biosynthetic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    acyl-CoA synthetase short-chain family member 3, mitochondrial
    Names
    AMP-binding enzyme, 33217
    NP_001317171.1
    NP_001317172.1
    NP_078836.1
    XP_005269208.1

    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_001330242.1NP_001317171.1  acyl-CoA synthetase short-chain family member 3, mitochondrial isoform 2 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (2) is one amino acid shorter than isoform 1.
      Source sequence(s)
      AC078920, AI022900, AK025616, AK074267, AK074938, DA756631
      Consensus CDS
      CCDS81716.1
      UniProtKB/Swiss-Prot
      Q9H6R3
      UniProtKB/TrEMBL
      A0A0B4J1R2
      Related
      ENSP00000261206.3, ENST00000261206.7
    2. NM_001330243.1NP_001317172.1  acyl-CoA synthetase short-chain family member 3, mitochondrial isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains an alternate exon compared to variant 1. This variant represents translation initiation at a downstream start codon compared to variant 1; the 5'-most initiation codon, as used in variant 1, is associated with a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the downstream start codon to encode an isoform (3) that has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC078920, AC134506, AI022900, AK025616, AK074267, AK074938, DA756631
      UniProtKB/Swiss-Prot
      Q9H6R3
      Conserved Domains (1) summary
      cl17068
      Location:1361
      AFD_class_I; Adenylate forming domain, Class I superfamily
    3. NM_024560.3NP_078836.1  acyl-CoA synthetase short-chain family member 3, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_078836.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC078920, AI022900, AK025616, AK074267, AK074938, DA756631
      Consensus CDS
      CCDS9022.1
      UniProtKB/Swiss-Prot
      Q9H6R3
      Related
      ENSP00000449535.1, OTTHUMP00000243129, ENST00000548058.5, OTTHUMT00000407794
      Conserved Domains (1) summary
      cd05967
      Location:71679
      PrpE; Propionyl-CoA synthetase (PrpE)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

      Range
      81078018..81256759
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005269151.5XP_005269208.1  acyl-CoA synthetase short-chain family member 3, mitochondrial isoform X1

      Conserved Domains (1) summary
      cl17068
      Location:71451
      AFD_class_I; Adenylate forming domain, Class I superfamily

    RNA

    1. XR_944720.3 RNA Sequence

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