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

Gene ID: 84532, updated on 27-Nov-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
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Genomic context

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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

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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. 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
  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. 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
  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 (39) 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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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)

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 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

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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_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_006723659.2 → 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

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