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] See more...

Aliases for ACSS1 Gene

Aliases for ACSS1 Gene

  • Acyl-CoA Synthetase Short Chain Family Member 1 2 3 5
  • Acetyl-Coenzyme A Synthetase 2-Like, Mitochondrial 3 4
  • Propionate--CoA Ligase 3 4
  • Acetate--CoA Ligase 2 3 4
  • EC 6.2.1.1 4 51
  • AceCS2L 2 3
  • ACAS2L 3 4
  • Acetyl-Coenzyme A Synthetase 2 (AMP Forming)-Like 2
  • Acyl-CoA Synthetase Short-Chain Family Member 1 4
  • Acetyl-CoA Synthetase 2 4
  • EC 6.2.1.17 4
  • DJ568C11.3 2
  • MGC33843 2
  • KIAA1846 4
  • EC 6.2.1 51
  • ACECS1 3
  • AceCS2 4
  • ACSS1 5

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. Diseases associated with ACSS1 include Canavan Disease and Cardiomyopathy, Infantile Histiocytoid. Among its related pathways are Glucose metabolism and Signaling events mediated by HDAC Class III. Gene Ontology (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 Summary for ACSS1 Gene

  • Catalyzes the synthesis of acetyl-CoA from short-chain fatty acids (PubMed:16788062). Acetate is the preferred substrate (PubMed:16788062). Can also utilize propionate with a much lower affinity (By similarity). Provides acetyl-CoA that is utilized mainly for oxidation under ketogenic conditions (By similarity). Involved in thermogenesis under ketogenic conditions, using acetate as a vital fuel when carbohydrate availability is insufficient (By similarity).

Additional gene information for ACSS1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACSS1 Gene

Genomics for ACSS1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ACSS1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J025051 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 608.1 +3.1 3094 8.4 HNRNPL GATAD2A PRDM10 REST KDM1A ZNF692 RCOR2 POLR2A BACH1 JUND ACSS1 VSX1 CST7 ENTPD6 FAM182B ZNF337 NINL lnc-VSX1-4 APMAP
GH20J025060 Enhancer 0.5 Ensembl dbSUPER 600.7 -1.6 -1621 0.4 FOS MNT ACSS1 ENSG00000275358 VSX1
GH20J025029 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas dbSUPER 18.3 +26.7 26674 4.7 HNRNPL GATAD2A RBFOX2 RXRB IRF2 ZNF239 SOX13 CEBPB TCF7 EGR1 ACSS1 CST7 APMAP FAM182B piR-59264 piR-61101-409
GH20J024989 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 12.2 +67.3 67331 5.2 SP1 HNRNPL CREB1 GATAD2A PRDM10 ZNF629 REST TFE3 SOX13 NFKBIZ APMAP ENSG00000286444 CST7 ACSS1 VN1R108P PYGB RF00026-637 RNU6-1257P
GH20J025194 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.3 -137.4 -137363 3.5 HNRNPL CREB1 GATAD2A PRDM10 ZNF629 TFE3 NFKBIZ ZNF692 POLR2A BACH1 ENTPD6 LOC101926889 PYGB ABHD12 ZNF337 ACSS1 FAM182B VSX1 CST7 NINL
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACSS1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACSS1

Top Transcription factor binding sites by QIAGEN in the ACSS1 gene promoter:
  • AML1a
  • AREB6
  • C/EBPalpha
  • C/EBPbeta
  • p300
  • Pax-4a
  • SREBP-1b
  • SREBP-1c
  • STAT5A

Genomic Locations for ACSS1 Gene

Genomic Locations for ACSS1 Gene
chr20:25,006,230-25,058,980
(GRCh38/hg38)
Size:
52,751 bases
Orientation:
Minus strand
chr20:24,986,868-25,039,616
(GRCh37/hg19)
Size:
52,749 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; 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

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 (PubMed:16788062). The acetyl-CoA synthase activity is inhibited by acetylation and activated by deacetylation mediated by the deacetylase SIRT3.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for ACSS1

Domains & Families for ACSS1 Gene

Gene Families for ACSS1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ACSS1 Gene

InterPro:
Blocks:
  • AMP-binding signature
ProtoNet:

Suggested Antigen Peptide Sequences for ACSS1 Gene

GenScript: Design optimal peptide antigens:
  • Acyl-CoA synthetase short-chain family member 1 (ACS2L_HUMAN)
  • ACSS1 protein (Q1RMZ4_HUMAN)
  • cDNA FLJ43068 fis, clone BRTHA3008778, moderately similar to Acetyl-coenzyme A synthetase (EC 6.2.1.1) (Q6ZV30_HUMAN)
  • Acyl-CoA synthetase short-chain family member 1 (Q7Z5G3_HUMAN)

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 Function:
Catalyzes the synthesis of acetyl-CoA from short-chain fatty acids (PubMed:16788062). Acetate is the preferred substrate (PubMed:16788062). Can also utilize propionate with a much lower affinity (By similarity). Provides acetyl-CoA that is utilized mainly for oxidation under ketogenic conditions (By similarity). Involved in thermogenesis under ketogenic conditions, using acetate as a vital fuel when carbohydrate availability is insufficient (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=acetate + ATP + CoA = acetyl-CoA + AMP + diphosphate; Xref=Rhea:RHEA:23176, ChEBI:CHEBI:30089, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:456215; EC=6.2.1.1; Evidence={ECO:0000269|PubMed:16788062};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + CoA + propanoate = AMP + diphosphate + propanoyl-CoA; Xref=Rhea:RHEA:20373, ChEBI:CHEBI:17272, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57287, ChEBI:CHEBI:57392, ChEBI:CHEBI:456215; EC=6.2.1.17; Evidence={ECO:0000250|UniProtKB:Q99NB1};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by acetylation at Lys-642 and activated by deacetylation mediated by the deacetylase SIRT3.

Enzyme Numbers (IUBMB) for ACSS1 Gene

Phenotypes From GWAS Catalog for ACSS1 Gene

Gene Ontology (GO) - Molecular Function for ACSS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003824 catalytic activity IEA --
GO:0003987 acetate-CoA ligase activity EXP,IDA 16788062
GO:0005515 protein binding IPI 16788062
GO:0005524 ATP 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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACSS1

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 3
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) 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:0006069 ethanol oxidation TAS --
GO:0006085 acetyl-CoA biosynthetic process IDA 16788062
GO:0019413 acetate biosynthetic process IEA --
GO:0019427 acetyl-CoA biosynthetic process from acetate IEA --
GO:0019542 propionate biosynthetic process 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: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
acetic acid Approved Pharma Agonist, Full agonist 139
Phosphoric acid Approved Pharma 0
propanoic acid Approved, Vet_approved Pharma Agonist, Full agonist 0
Adenosine monophosphate Approved, Investigational Nutra 0
Propanoyl-CoA Experimental Pharma 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 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
  • AcCoA
  • Acetyl coenzyme A
  • S-Acetyl-CoA
  • S-Acetyl-coenzyme A
  • Ac-CoA
72-89-9
Adenosine tetraphosphate
  • Adenosine 5'-tetraphosphate
  • Adenosine 5'-tetraphosphoric acid
  • Adenosine tetraphosphoric acid
  • Ap4
  • ATPP
58337-43-2
Propinol adenylate
  • 5'-Adenylic acid propanoic acid anhydride
  • 5'-Adenylic acid propionic acid anhydride
  • 5'-O-[Hydroxy(propionyloxy)phosphoryl]adenosine
  • Propanoyl-adenosine monophosphate
  • Propionyl-adenosine monophosphate
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with ACSS1: view

Transcripts for ACSS1 Gene

mRNA/cDNA for ACSS1 Gene

4 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACSS1

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

Expression for ACSS1 Gene

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



Protein tissue co-expression partners for ACSS1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(2.7)
  • Liver(2.6)
  • Intestine(2.6)
  • Muscle(2.6)
  • Kidney(2.4)
  • Blood(2.3)
  • Stomach(2.3)
  • Pancreas(2.1)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with ACSS1: view

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 30 31
  • 99.42 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ACSS1 30 31
  • 86.73 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ACSS1 31
  • 85 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Acss1 30
  • 84.41 (n)
Cow
(Bos Taurus)
Mammalia ACSS1 30 31
  • 84.28 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Acss1 30 17 31
  • 84.26 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ACSS1 31
  • 81 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ACSS1 30 31
  • 74.84 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ACSS1 31
  • 71 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia acss1 30
  • 69.84 (n)
Zebrafish
(Danio rerio)
Actinopterygii acss1 30 31
  • 68.81 (n)
OneToOne
sbcb395 30
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AGL148C 30
  • 52.89 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D17336g 30
  • 51.82 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ACS2 30 33
  • 50.68 (n)
ACS1 31
  • 42 (a)
OneToMany
Bread mold
(Neurospora crassa)
Ascomycetes NCU06836 30
  • 57.37 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 55 (a)
OneToMany
CSA.5469 31
  • 41 (a)
OneToMany
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC191.02c 30
  • 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ACSS1: view image

Paralogs for ACSS1 Gene

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

  • ACS2L_HUMAN
  • Q1RMZ4_HUMAN
  • Q5TF43_HUMAN
  • Q6ZV30_HUMAN
  • Q7Z5G3_HUMAN
genes like me logo Genes that share paralogs with ACSS1: view

Variants for ACSS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACSS1 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
rs6050249 - p.Val488Met

Additional dbSNP identifiers (rs#s) for ACSS1 Gene

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)

Additional Variant Information for ACSS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACSS1

SNP Genotyping and Copy Number Assay Products

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

Disorders for ACSS1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ACSS1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
canavan disease
  • canavan-van bogaert-bertrand disease
cardiomyopathy, infantile histiocytoid
  • cardiomyopathy, infantile xanthomatous
- elite association - COSMIC cancer census association via MalaCards
Search ACSS1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ACSS1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ACSS1: view

No data available for 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 RB (The Journal of biological chemistry 2009) 3 4 23
  2. Reversible lysine acetylation controls the activity of the mitochondrial enzyme acetyl-CoA synthetase 2. (PMID: 16788062) Schwer B … Verdin E (Proceedings of the National Academy of Sciences of the United States of America 2006) 3 4 23
  3. A novel Acetyl-CoA synthetase short-chain subfamily member 1 (Acss1) gene indicates a dynamic history of paralogue retention and loss in vertebrates. (PMID: 22313524) Castro LF … Cunha I (Gene 2012) 2 3
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41

Products for ACSS1 Gene

Sources for ACSS1 Gene