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Aliases for ACSS1 Gene

Aliases for ACSS1 Gene

  • Acyl-CoA Synthetase Short-Chain Family Member 1 2 3 4 5
  • Acetate--CoA Ligase 2 3 4
  • EC 6.2.1.1 4 63
  • ACAS2L 3 4
  • Acetyl-Coenzyme A Synthetase 2 (AMP Forming)-Like 2
  • Acetyl-CoA Synthetase 2 4
  • KIAA1846 4
  • EC 6.2.1 63
  • AceCS2L 3
  • ACECS1 3
  • AceCS2 4

External Ids for ACSS1 Gene

Previous HGNC Symbols for ACSS1 Gene

  • ACAS2L

Previous GeneCards Identifiers for ACSS1 Gene

  • GC20M024935

Summaries for ACSS1 Gene

Entrez Gene Summary for ACSS1 Gene

  • 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]

GeneCards Summary for ACSS1 Gene

ACSS1 (Acyl-CoA Synthetase Short-Chain Family Member 1) is a Protein Coding gene. Among its related pathways are Metabolism and cytochrome P450. GO annotations related to this gene include AMP binding and acetate-CoA ligase activity. An important paralog of this gene is ACSM2B.

UniProtKB/Swiss-Prot for ACSS1 Gene

  • Important for maintaining normal body temperature during fasting and for energy homeostasis. Essential for energy expenditure under ketogenic conditions (By similarity). Converts acetate to acetyl-CoA so that it can be used for oxidation through the tricarboxylic cycle to produce ATP and CO(2).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACSS1 Gene

Genomics for ACSS1 Gene

Regulatory Elements for ACSS1 Gene

Promoters for ACSS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ACSS1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ACSS1 Gene

Chromosome:
20
Start:
25,006,230 bp from pter
End:
25,058,980 bp from pter
Size:
52,751 bases
Orientation:
Minus strand

Genomic View for ACSS1 Gene

Genes around ACSS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACSS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACSS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACSS1 Gene

Proteins for ACSS1 Gene

  • Protein details for ACSS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NUB1-ACS2L_HUMAN
    Recommended name:
    Acetyl-coenzyme A synthetase 2-like, mitochondrial
    Protein Accession:
    Q9NUB1
    Secondary Accessions:
    • B3KXL2
    • B4DJZ3
    • D3DW48
    • F5H6F4
    • F8W7Y1
    • Q5TF42
    • Q8IV99
    • Q8N234
    • Q96JI1
    • Q96JX6
    • Q9NU28

    Protein attributes for ACSS1 Gene

    Size:
    689 amino acids
    Molecular mass:
    74857 Da
    Quaternary structure:
    • Interacts with SIRT3.
    SequenceCaution:
    • Sequence=BAB55390.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC03853.1; Type=Frameshift; Positions=250; Evidence={ECO:0000305}; Sequence=BAC03853.1; Type=Miscellaneous discrepancy; Note=Sequencing errors.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ACSS1 Gene

    Alternative splice isoforms for ACSS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACSS1 Gene

Proteomics data for ACSS1 Gene at MOPED

Selected DME Specific Peptides for ACSS1 Gene

Post-translational modifications for ACSS1 Gene

  • Reversibly acetylated on Lys-642. The acetyl-CoA synthase activity is inhibited by acetylation and activated by deacetylation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ACSS1 Gene

Antibody Products

Domains & Families for ACSS1 Gene

Gene Families for ACSS1 Gene

Protein Domains for ACSS1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NUB1

UniProtKB/Swiss-Prot:

ACS2L_HUMAN :
  • Belongs to the ATP-dependent AMP-binding enzyme family.
Family:
  • Belongs to the ATP-dependent AMP-binding enzyme family.
genes like me logo Genes that share domains with ACSS1: view

Function for ACSS1 Gene

Molecular function for ACSS1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + acetate + CoA = AMP + diphosphate + acetyl-CoA.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by acetylation at Lys-642 and activated by deacetylation.
UniProtKB/Swiss-Prot Function:
Important for maintaining normal body temperature during fasting and for energy homeostasis. Essential for energy expenditure under ketogenic conditions (By similarity). Converts acetate to acetyl-CoA so that it can be used for oxidation through the tricarboxylic cycle to produce ATP and CO(2).

Enzyme Numbers (IUBMB) for ACSS1 Gene

genes like me logo Genes that share phenotypes with ACSS1: view

Animal Models for ACSS1 Gene

MGI Knock Outs for ACSS1:

Animal Model Products

miRNA for ACSS1 Gene

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ACSS1 Gene

Localization for ACSS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACSS1 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ACSS1 Gene COMPARTMENTS Subcellular localization image for ACSS1 gene
Compartment Confidence
mitochondrion 5
cytosol 2
nucleus 1
peroxisome 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for ACSS1 Gene

Pathways & Interactions for ACSS1 Gene

genes like me logo Genes that share pathways with ACSS1: view

Gene Ontology (GO) - Biological Process for ACSS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006805 xenobiotic metabolic process TAS --
GO:0019413 acetate biosynthetic process IEA --
GO:0019427 acetyl-CoA biosynthetic process from acetate IEA --
genes like me logo Genes that share ontologies with ACSS1: view

No data available for SIGNOR curated interactions for ACSS1 Gene

Drugs & Compounds for ACSS1 Gene

(7) Drugs for ACSS1 Gene - From: HMDB and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved Nutra Target, product of 0
Adenosine triphosphate Approved Nutra Target 0
acetic acid Approved Nutra Full agonist, Agonist 89
Diphosphate Experimental Pharma 0
propanoic acid Experimental Pharma Full agonist, Agonist 0

(5) Additional Compounds for ACSS1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Acetyl adenylate
  • 5'-O-[Acetoxy(hydroxy)phosphoryl]adenosine
  • Acetyl adenylate
  • Acetyl AMP
  • Acetyladenylate
  • [[(2R,3S,4R,5R)-5-(6-aminopurin-9-yl)-3,4-dihydroxy-tetrahydrofuran-2-yl]methoxy-hydroxy-phosphoryl] acetate
13015-87-7
acetyl-coa
  • Ac-CoA
  • Ac-Coenzyme A
  • Ac-S-CoA
  • Ac-S-Coenzyme A
  • Acetyl coenzyme-A
72-89-9
Adenosine tetraphosphate
  • Adenosine 5'-tetraphosphate
  • Adenosine tetraphosphate
  • Ap4
  • ATPP
  • P4A
58337-43-2
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Propinol adenylate
  • Propionyladenylate
genes like me logo Genes that share compounds with ACSS1: view

Transcripts for ACSS1 Gene

Unigene Clusters for ACSS1 Gene

Acyl-CoA synthetase short-chain family member 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ACSS1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13a · 13b · 13c ^ 14a ·
SP1: - - - - - - - - -
SP2: - - - - - - - - -
SP3: - - - - -
SP4: - - - - - - - - -
SP5: - -
SP6: - - -
SP7:
SP8: -
SP9: -
SP10: -
SP11: - - -
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:

ExUns: 14b · 14c · 14d ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18 ^ 19a · 19b · 19c ^ 20a · 20b · 20c · 20d · 20e ^ 21 ^ 22
SP1: - - - - - - -
SP2: - - - - - - -
SP3: - - - - - - -
SP4: - - - - - - - - - - - - - - -
SP5:
SP6:
SP7: - - - - - - - - - - - -
SP8:
SP9:
SP10:
SP11:
SP12: - - - - - -
SP13: - - - -
SP14: - - -
SP15:
SP16: - - -
SP17: -
SP18:

Relevant External Links for ACSS1 Gene

GeneLoc Exon Structure for
ACSS1
ECgene alternative splicing isoforms for
ACSS1

Expression for ACSS1 Gene

mRNA expression in normal human tissues for ACSS1 Gene

Protein differential expression in normal tissues from HIPED for ACSS1 Gene

This gene is overexpressed in Heart (12.4), Placenta (8.3), and Testis (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ACSS1 Gene



SOURCE GeneReport for Unigene cluster for ACSS1 Gene Hs.529353

genes like me logo Genes that share expression patterns with ACSS1: view

Protein tissue co-expression partners for ACSS1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ACSS1 Gene

Orthologs for ACSS1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ACSS1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ACSS1 35
  • 84.28 (n)
  • 85.71 (a)
ACSS1 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACSS1 35
  • 86.73 (n)
  • 89.74 (a)
ACSS1 36
  • 69 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Acss1 35
  • 84.26 (n)
  • 87.68 (a)
Acss1 16
Acss1 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ACSS1 35
  • 99.42 (n)
  • 99.42 (a)
ACSS1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acss1 35
  • 84.41 (n)
  • 86.66 (a)
oppossum
(Monodelphis domestica)
Mammalia ACSS1 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACSS1 36
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACSS1 35
  • 74.84 (n)
  • 79.39 (a)
ACSS1 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACSS1 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acss1 35
  • 69.84 (n)
  • 76.86 (a)
zebrafish
(Danio rerio)
Actinopterygii acss1 35
  • 68.81 (n)
  • 74 (a)
sbcb395 35
acss1 36
  • 68 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL148C 35
  • 52.89 (n)
  • 47.97 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D17336g 35
  • 51.82 (n)
  • 48.94 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ACS2 35
  • 50.68 (n)
  • 48.78 (a)
ACS1 36
  • 42 (a)
OneToMany
ACS2 38
bread mold
(Neurospora crassa)
Ascomycetes NCU06836 35
  • 57.37 (n)
  • 49.43 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC191.02c 35
  • 52.92 (n)
  • 47.99 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 55 (a)
OneToMany
CSA.5469 36
  • 41 (a)
OneToMany
Species with no ortholog for ACSS1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ACSS1 Gene

ENSEMBL:
Gene Tree for ACSS1 (if available)
TreeFam:
Gene Tree for ACSS1 (if available)

Paralogs for ACSS1 Gene

Paralogs for ACSS1 Gene

(5) SIMAP similar genes for ACSS1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with ACSS1: view

Variants for ACSS1 Gene

Sequence variations from dbSNP and Humsavar for ACSS1 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs6050249 - 25,013,653(+) CTCCA(C/T)GACGC nc-transcript-variant, reference, missense
rs3646 -- 25,058,203(+) CCTTC(C/G)GCCAC upstream-variant-2KB
rs761720 -- 25,045,430(+) GTCAC(A/G)GTGGG intron-variant
rs1007881 -- 25,033,749(+) GCTCA(A/G)CTTGG intron-variant, upstream-variant-2KB
rs1015278 -- 25,021,883(+) CAGCA(A/G)CTGAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ACSS1 Gene

Variant ID Type Subtype PubMed ID
nsv522873 CNV Gain 19592680
nsv912826 CNV Loss 21882294

Variation tolerance for ACSS1 Gene

Residual Variation Intolerance Score: 23.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.42; 77.20% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ACSS1 Gene

HapMap Linkage Disequilibrium report
ACSS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACSS1 Gene

Disorders for ACSS1 Gene

Relevant External Links for ACSS1

Genetic Association Database (GAD)
ACSS1
Human Genome Epidemiology (HuGE) Navigator
ACSS1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACSS1

No disorders were found for ACSS1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ACSS1 Gene

Publications for ACSS1 Gene

  1. Crystal structures of human SIRT3 displaying substrate-induced conformational changes. (PMID: 19535340) Jin L. … Perni R.B. (J. Biol. Chem. 2009) 3 4 23 67
  2. The importance of acetyl coenzyme A synthetase for 11C-acetate uptake and cell survival in hepatocellular carcinoma. (PMID: 19617323) Yun M. … Lee J.D. (J. Nucl. Med. 2009) 3 23
  3. Reversible lysine acetylation controls the activity of the mitochondrial enzyme acetyl-CoA synthetase 2. (PMID: 16788062) Schwer B. … Verdin E. (Proc. Natl. Acad. Sci. U.S.A. 2006) 3 23
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3

Products for ACSS1 Gene

Sources for ACSS1 Gene

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