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ACSS1 Gene(Protein Coding)

Acyl-CoA Synthetase Short-Chain Family Member 1

GCID:
GC20M024986
GIFtS:
53
Genes Participants
UDN Logo

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 61
  • ACAS2L 3 4
  • Acetyl-Coenzyme A Synthetase 2-Like, Mitochondrial 3
  • Acetyl-Coenzyme A Synthetase 2 (AMP Forming)-Like 2
  • Acetyl-CoA Synthetase 2 4
  • KIAA1846 4
  • EC 6.2.1 61
  • 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 Statin Pathway and Sterol Regulatory Element-Binding Proteins (SREBP) signalling. GO annotations related to this gene include AMP binding and acetate-CoA ligase activity. An important paralog of this gene is ACSS2.

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 CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACSS1 Gene

Genomics for ACSS1 Gene

Products:

  1. Regulatory Element

Regulatory Elements for ACSS1 Gene

Enhancers for ACSS1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20G025029 1.4 Ensembl ENCODE dbSUPER 18.3 +26.7 26675 4.7 FOXA2 MLX ARID4B DMAP1 ZNF48 YY1 MXD4 NFYC MIER2 REST ACSS1 CST7 APMAP FAM182B PIR53263
GH20G025035 1.4 Ensembl ENCODE dbSUPER 17 +20.8 20844 6.1 PKNOX1 ARID4B SIN3A ZNF48 ZBTB7B YY1 ELK1 KAT8 ZNF579 NFIL3 ACSS1 CST7 APMAP PIR53263
GH20G025089 1.3 FANTOM5 ENCODE dbSUPER 15.4 -32.2 -32201 2.5 CEBPG ZIC2 RARA GLIS2 POLR2A ZNF600 MAFK EZH2 NFE2L2 BHLHE40 ACSS1 VSX1 PYGB GINS1 LOC391239
GH20G024948 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.8 +106.2 106201 8.4 PKNOX1 NFIB SIN3A BMI1 RAD21 GLIS2 FOS RCOR1 PAF1 ZHX2 CST7 APMAP ACSS1 VN1R108P PYGB PIR45392
GH20G024989 1.4 ENCODE dbSUPER 12.2 +67.3 67332 5.2 PKNOX1 FOXA2 CREB3L1 ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 CST7 ACSS1 APMAP VN1R108P PYGB RNU6-1257P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ACSS1 on UCSC Golden Path with GeneCards custom track

Promoters for ACSS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000135799 1080 1801 HDGF ZFP64 ARID4B SIN3A DMAP1 ZNF48 GLIS2 ZNF207 KLF7 ZNF263

Transcription factor binding sites by QIAGEN in the ACSS1 gene promoter:

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 Structure • Gene Density

RefSeq DNA sequence for ACSS1 Gene

Proteins for ACSS1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for ACSS1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for ACSS1 Gene

Q9NUB1:
  • MLACARIGA
  • SGHRLGT
  • YFTGDGA
  • LYTSGSTG
  • WQTETGG
  • YVVYGPL
  • GYYFTGDG
  • DTWWQTETG
  • RTIYGDH
  • LGSVGEPI
  • AMLACAR

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

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ACSS1 Gene

Gene Families for ACSS1 Gene

HGNC:

Protein Domains for ACSS1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ACSS1 Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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

Gene Ontology (GO) - Molecular Function for ACSS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0003987 acetate-CoA ligase activity IDA,EXP 16788062
GO:0005515 protein binding IPI 16788062
GO:0005524 ATP binding IEA --
GO:0016208 AMP binding IEA --
genes like me logo Genes that share ontologies with ACSS1: view
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

miRTarBase miRNAs that target ACSS1

Inhibitory RNA Products

Flow Cytometry Products

No data available for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACSS1 gene
Compartment Confidence
mitochondrion 5
cytosol 2
plasma membrane 1
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for ACSS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with ACSS1: view

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:0006069 ethanol oxidation TAS --
GO:0006085 acetyl-CoA biosynthetic process IDA 16788062
GO:0008152 metabolic process IEA --
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

Products:

  1. Drug

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

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
Phosphoric acid Approved Pharma 0
acetic acid Approved Nutra Full agonist, Agonist 112
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
Propinol adenylate
  • Propionyladenylate
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
 14000-31-8
genes like me logo Genes that share compounds with ACSS1: view

Transcripts for ACSS1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for ACSS1 Gene

(6) REFSEQ mRNAs :
(15) Additional mRNA sequences :
(209) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ACSS1 Gene

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

Inhibitory RNA Products

Flow Cytometry Products

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

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ACSS1 Gene

mRNA expression in normal human tissues for ACSS1 Gene
mRNA expression by BioGPS for ACSS1 GenemRNA expression by GTEx 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, MaxQB, and MOPED for ACSS1 Gene



Protein tissue co-expression partners for ACSS1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ACSS1 Gene:

ACSS1

SOURCE GeneReport for Unigene cluster for ACSS1 Gene:

Hs.529353

Evidence on tissue expression from TISSUES for ACSS1 Gene

  • Nervous system(4.9)
  • Heart(2.1)
  • Liver(2)
  • Muscle(2)
genes like me logo Genes that share expression patterns with ACSS1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
 Mammalia ACSS1 34 35
  • 99.42 (n)
dog
(Canis familiaris)
 Mammalia ACSS1 34 35
  • 86.73 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia ACSS1 35
  • 85 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Acss1 34
  • 84.41 (n)
cow
(Bos Taurus)
 Mammalia ACSS1 34 35
  • 84.28 (n)
mouse
(Mus musculus)
 Mammalia Acss1 34 16 35
  • 84.26 (n)
oppossum
(Monodelphis domestica)
 Mammalia ACSS1 35
  • 81 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ACSS1 34 35
  • 74.84 (n)
lizard
(Anolis carolinensis)
 Reptilia ACSS1 35
  • 71 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia acss1 34
  • 69.84 (n)
zebrafish
(Danio rerio)
 Actinopterygii acss1 34 35
  • 68.81 (n)
sbcb395 34
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_AGL148C 34
  • 52.89 (n)
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0D17336g 34
  • 51.82 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes ACS2 34
  • 50.68 (n)
ACS1 35 37
  • 42 (a)
 OneToMany
bread mold
(Neurospora crassa)
 Ascomycetes NCU06836 34
  • 57.37 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 55 (a)
 OneToMany
CSA.5469 35
  • 41 (a)
 OneToMany
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes SPCC191.02c 34
  • 52.92 (n)
Species where no ortholog for ACSS1 was found in the sources mined by GeneCards:
  • 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
rs1000006513 -- 25,011,382(+) AGGGA(C/G)TACTG intron-variant
rs1000176140 -- 25,050,998(+) CCTCG(C/T)CACAT intron-variant
rs1000268677 -- 25,046,013(+) ATCCA(C/T)CTCCC intron-variant
rs1000272760 -- 25,044,282(+) CCCCC(A/C)AGGGT intron-variant
rs1000371507 -- 25,028,098(+) CCACA(A/G)AATAT intron-variant

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

Variant ID Type Subtype PubMed ID
esv3645552 CNV gain 21293372
esv3645567 CNV gain 21293372
esv3645573 CNV gain 21293372
nsv1056345 CNV gain 25217958
nsv522873 CNV gain 19592680
nsv585745 CNV loss 21841781

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 22 64
  2. 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 4 22 64
  3. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M. … Yamada Y. (Am. J. Hypertens. 2010) 3 46 64
  4. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T. … Yamada Y. (Int. J. Mol. Med. 2010) 3 46 64
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64

Products for ACSS1 Gene

Sources for ACSS1 Gene

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