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

Gene ID: 79611, updated on 5-Mar-2024

Summary

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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; AllianceGenome:HGNC:24723
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
Summary
Enables propionate-CoA ligase activity. Predicted to be involved in ketone body biosynthetic process. Located in mitochondrial matrix. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in fat (RPKM 16.6), liver (RPKM 14.1) and 17 other tissues See more
Orthologs
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Genomic context

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Location:
12q21.31
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (81077871..81261210)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (81056837..81240187)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (81471858..81654989)

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 ATAC-STARR-seq lymphoblastoid silent region 4685 Neighboring gene microRNA 618 Neighboring gene NANOG hESC enhancer GRCh37_chr12:81480008-81480635 Neighboring gene uncharacterized LOC107984535 Neighboring gene NANOG hESC enhancer GRCh37_chr12:81489283-81489784 Neighboring gene NANOG hESC enhancer GRCh37_chr12:81602215-81602716 Neighboring gene microRNA 4699 Neighboring gene PPFIA2 antisense RNA 1 Neighboring gene PTPRF interacting protein alpha 2 Neighboring gene uncharacterized LOC105369872

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. Genome-wide assessment reveals a significant association between ACSS3 and physical activity. Jo J, et al. Genes Brain Behav, 2023 Feb. PMID 36510703, Free PMC Article
  2. ACSS3 represses prostate cancer progression through downregulating lipid droplet-associated protein PLIN3. Zhou L, et al. Theranostics, 2021. PMID 33391508, Free PMC Article
  3. Mitochondrial Acetyl-CoA Synthetase 3 is Biosignature of Gastric Cancer Progression. Chang WC, et al. Cancer Med, 2018 Apr. PMID 29493120, Free PMC Article
  4. A genome-wide association study of a sustained pattern of antidepressant response. Hunter AM, et al. J Psychiatr Res, 2013 Sep. PMID 23726668, Free PMC Article
  5. Molecular cloning of rat acss3 and characterization of mammalian propionyl-CoA synthetase in the liver mitochondrial matrix. Yoshimura Y, et al. J Biochem, 2017 Mar 1. PMID 28003429

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. ACSS3 regulates the metabolic homeostasis of epithelial cells and alleviates pulmonary fibrosis.
    Title: ACSS3 regulates the metabolic homeostasis of epithelial cells and alleviates pulmonary fibrosis.
  2. Genome-wide assessment reveals a significant association between ACSS3 and physical activity.
    Title: Genome-wide assessment reveals a significant association between ACSS3 and physical activity.
  3. ACSS3 represses prostate cancer progression through downregulating lipid droplet-associated protein PLIN3.
    Title: ACSS3 represses prostate cancer progression through downregulating lipid droplet-associated protein PLIN3.
  4. This report is the first to indicate ACSS3 as a biomarker of GCa prognosis and that targeting ACSS3 in GCa patients might be therapeutically valuable.
    Title: Mitochondrial Acetyl-CoA Synthetase 3 is Biosignature of Gastric Cancer Progression.
  5. 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.
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
A genome-wide association meta-analysis of plasma Aβ peptides concentrations in the elderly.
EBI GWAS Catalog
A genome-wide association study of a sustained pattern of antidepressant response.
EBI GWAS Catalog
Electronic medical records and genomics (eMERGE) network exploration in cataract: Several new potential susceptibility loci.
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

  • FLJ21963

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables acetate-CoA ligase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables acetate-CoA ligase activity TAS
Traceable Author Statement
more info
  
enables butyrate-CoA ligase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables propionate-CoA ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables propionate-CoA ligase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in ketone body biosynthetic process TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
is_active_in mitochondrial matrix IBA
Inferred from Biological aspect of Ancestor
more info
  
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 IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
acyl-CoA synthetase short-chain family member 3, mitochondrial
Names
AMP-binding enzyme, 33217
acetate--CoA ligase 3
propionate--CoA ligase
NP_001317171.1
NP_001317172.1
NP_078836.1
XP_005269208.1
XP_047285505.1
XP_054229210.1
XP_054229211.1

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_001330242.2 → NP_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/TrEMBL
    A0A0B4J1R2
    Related
    ENSP00000261206.3, ENST00000261206.7

  2. NM_001330243.2 → NP_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
    UniProtKB/Swiss-Prot
    Q9H6R3
    Conserved Domains (1) summary
    cl17068
    Location:1 → 361
    AFD_class_I; Adenylate forming domain, Class I superfamily

  3. NM_024560.4 → NP_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
    Consensus CDS
    CCDS9022.1
    UniProtKB/Swiss-Prot
    Q8NC66, Q9H6R3
    Related
    ENSP00000449535.1, ENST00000548058.6
    Conserved Domains (1) summary
    cd05967
    Location:62 → 679
    PrpE; Propionyl-CoA synthetase (PrpE)

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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    81077871..81261210
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047429549.1 → XP_047285505.1  acyl-CoA synthetase short-chain family member 3, mitochondrial isoform X1

  2. XM_005269151.6 → XP_005269208.1  acyl-CoA synthetase short-chain family member 3, mitochondrial isoform X2

    Conserved Domains (1) summary
    cl17068
    Location:71 → 451
    AFD_class_I; Adenylate forming domain, Class I superfamily

RNA

  1. XR_944720.4 RNA Sequence

  2. XR_007063125.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    81056837..81240187
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054373235.1 → XP_054229210.1  acyl-CoA synthetase short-chain family member 3, mitochondrial isoform X1

  2. XM_054373236.1 → XP_054229211.1  acyl-CoA synthetase short-chain family member 3, mitochondrial isoform X2

RNA

  1. XR_008488677.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H6R3.1 GenPept UniProtKB/Swiss-Prot:Q9H6R3

Gene LinkOut

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

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