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ACSS1 Gene

protein-coding   GIFtS: 62
GCID: GC20M024986

Acyl-CoA Synthetase Short-Chain Family Member 1

(Previous name: acetyl-Coenzyme A synthetase 2 (AMP forming)-like)
(Previous symbol: ACAS2L)
  Search for ACSS1
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Acyl-CoA Synthetase Short-Chain Family Member 11 2 3     AceCS2L2
ACAS2L1 2 3     Acetyl-Coenzyme A Synthetase 2-Like, Mitochondrial2
Acetate--CoA Ligase 22 3     AceCS23
EC 6.2.1.13 8     KIAA18463
ACECS12 5     Acetyl-CoA Synthetase 23
Acetyl-Coenzyme A Synthetase 2 (AMP Forming)-Like1     EC 6.2.18

External Ids:    HGNC: 160911   Entrez Gene: 845322   Ensembl: ENSG000001549307   OMIM: 6143555   UniProtKB: Q9NUB13   

Export aliases for ACSS1 gene to outside databases

Previous GC identifer: GC20M024935


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include acetate-CoA ligase activity and AMP binding. An important paralog of this gene is C10orf129.

UniProtKB/Swiss-Prot: ACS2L_HUMAN, Q9NUB1
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)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000020.10  NT_011387.9  NC_018931.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ACSS1 gene promoter:
         C/EBPbeta   AML1a   SREBP-1c   p300   STAT5A   SREBP-1b   C/EBPalpha   AREB6   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ACSS1 promoter sequence
   Search Chromatin IP Primers for ACSS1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ACSS1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20p11.23-p11.21   Ensembl cytogenetic band:  20p11.21   HGNC cytogenetic band: 20p11.23-p11.21

ACSS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACSS1 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M024986:  view genomic region     (about GC identifiers)

Start:
24,986,868 bp from pter      End:
25,039,616 bp from pter
Size:
52,749 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ACS2L_HUMAN, Q9NUB1 (See protein sequence)
Recommended Name: Acetyl-coenzyme A synthetase 2-like, mitochondrial precursor  
Size: 689 amino acids; 74857 Da
Subunit: Interacts with SIRT3
Sequence caution: Sequence=BAB55390.1; Type=Erroneous initiation; Sequence=BAC03853.1; Type=Frameshift;
Positions=250; Sequence=BAC03853.1; Type=Miscellaneous discrepancy; Note=Sequencing errors;
Selected PDB 3D structures from and Proteopedia for ACSS1 (see all 7):
3GLR (3D)        3GLT (3D)        3GLU (3D)        4BVE (3D)        4BVF (3D)        4BVG (3D)    
Secondary accessions: B3KXL2 B4DJZ3 D3DW48 F5H6F4 F8W7Y1 Q5TF42 Q8IV99 Q8N234 Q96JI1 Q96JX6
Q9NU28
Alternative splicing: 4 isoforms:  Q9NUB1-1   Q9NUB1-2   Q9NUB1-3   Q9NUB1-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ACSS1: NX_Q9NUB1

Explore proteomics data for ACSS1 at MOPED

Post-translational modifications: 

  • Reversibly acetylated on Lys-642. The acetyl-CoA synthase activity is inhibited by acetylation and activated by
    deacetylation1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ACSS1 (Q9NUB1) (see all 11)
     YFTGDGA  AMLACAR  WQTETGG  YVVYGPL 


    See ACSS1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001239604.1  NP_001239605.1  NP_001239606.1  NP_115890.2  

    ENSEMBL proteins: 
     ENSP00000316924   ENSP00000365916   ENSP00000388793   ENSP00000437657   ENSP00000439304  
    Reactome Protein details: Q9NUB1

    ACSS1 Human Recombinant Protein Products:

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    Novus Biologicals ACSS1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ACSS1

     
    Search eBioscience for Proteins for ACSS1 

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    LSBio Antibodies in human, mouse, rat for ACSS1

    ACSS1 Assay Products:

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    Search eBioscience for ELISAs for ACSS1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ACS: Acyl-CoA synthetase family

    4 InterPro protein domains:
     IPR025110 AMP-bd_C
     IPR020845 AMP-binding_CS
     IPR011904 Ac_CoA_lig
     IPR000873 AMP-dep_Synth/Lig

    Graphical View of Domain Structure for InterPro Entry Q9NUB1

    ProtoNet protein and cluster: Q9NUB1

    1 Blocks protein domain: IPB000873 AMP-binding signature

    UniProtKB/Swiss-Prot: ACS2L_HUMAN, Q9NUB1
    Similarity: Belongs to the ATP-dependent AMP-binding enzyme family


    Find genes that share domains with ACSS1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ACS2L_HUMAN, Q9NUB1
    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)
    Catalytic activity: ATP + acetate + CoA = AMP + diphosphate + acetyl-CoA
    Enzyme regulation: Inhibited by acetylation at Lys-642 and activated by deacetylation

         Enzyme Numbers (IUBMB): EC 6.2.1.11 2 EC 6.2.12

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0003987acetate-CoA ligase activity IDA16788062
    GO:0005515protein binding IPI16788062
    GO:0005524ATP binding IEA--
    GO:0016208AMP binding IEA--
         
    Find genes that share ontologies with ACSS1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for ACSS1:
     Decreased POU5F1-GFP protein e  Decreased homologous recombina 

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Acss1):
     behavior/neurological  cellular  growth/size/body  homeostasis/metabolism  mortality/aging 

    Find genes that share phenotypes with ACSS1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Acss1tm1Jsak for ACSS1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ACSS1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ACSS1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ACSS1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ACSS1

    miRNA
    Products:
        
    miRTarBase miRNAs that target ACSS1:
    hsa-mir-25-3p (MIRT050224), hsa-mir-125b-5p (MIRT046084), hsa-mir-191-5p (MIRT045786), hsa-mir-34a-5p (MIRT025533)

    Block miRNA regulation of human, mouse, rat ACSS1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ACSS1 (see all 10):
    hsa-miR-3163 hsa-miR-3149 hsa-miR-513c hsa-miR-548l hsa-miR-3667-3p hsa-miR-670 hsa-miR-9* hsa-miR-514b-5p
    SwitchGear 3'UTR luciferase reporter plasmidACSS1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ACSS1
    Predesigned siRNA for gene silencing in human, mouse, rat ACSS1

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for ACSS1

    Clone
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    OriGene ORF clones in mouse, rat for ACSS1
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    GenScript: all cDNA clones in your preferred vector: ACSS1 (NM_032501)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACSS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACSS1

    Cell Line
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACSS1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ACS2L_HUMAN, Q9NUB1: Mitochondrion matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    nucleus1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005759mitochondrial matrix TAS--

    Find genes that share ontologies with ACSS1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ACSS1 About   (see all 10)  
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    2Cytochrome P450 - arranged by substrate type
    Phase 1 - Functionalization of compounds0.75
    Ethanol oxidation0.00
    3Statin Pathway
    Statin Pathway0.73
    4Biological oxidations
    Biological oxidations0.56
    5Glycolysis and gluconeogenesis short map
    Glycolysis / Gluconeogenesis0.46


    Find genes that share SuperPaths with ACSS1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for ACSS1
        Statin Pathway
    SREBP signalling
    Signaling events mediated by HDAC Class III

    1 Reactome Pathway for ACSS1
        Ethanol oxidation


    5 Kegg Pathways  (Kegg details for ACSS1):
        Glycolysis / Gluconeogenesis
    Pyruvate metabolism
    Propanoate metabolism
    Metabolic pathways
    Carbon metabolism

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ACSS1
    Interactions:

        Search GeneGlobe Interaction Network for ACSS1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ACSS1 (Q9NUB13 ENSP000003169244) via UniProtKB, MINT, STRING, and/or I2D (see all 199)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALM1P621583I2D: score=1 
    CALM2P621583I2D: score=1 
    CALM3P621583I2D: score=1 
    ACACBO007633, ENSP000003670794I2D: score=2 STRING: ENSP00000367079
    ACAA1P091103, ENSP000003336644I2D: score=1 STRING: ENSP00000333664
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006069ethanol oxidation TAS--
    GO:0006085acetyl-CoA biosynthetic process IDA16788062
    GO:0006805xenobiotic metabolic process TAS--
    GO:0008152metabolic process ----
    GO:0019413acetate biosynthetic process IEA--

    Find genes that share ontologies with ACSS1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ACSS1 (ACS2L)

    Selected HMDB Compounds for ACSS1 (see all 12)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Acetic acidAcetate (see all 12)64-19-7--
    Acetyl adenylate5'-O-[acetoxy(hydroxy)phosphoryl]adenosine (see all 5)13015-87-7--
    Acetyl-CoAS-Acetyl coenzyme A (see all 13)72-89-9--
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine tetraphosphateAdenosine 5'-tetraphosphate (see all 6)58337-43-2--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Coenzyme AAcetoacetyl coenzyme A sodium salt (see all 21)85-61-0--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Propinol adenylatePropionyladenylate ----
    Propionic acidAdofeed (see all 23)79-09-4--

    2 DrugBank Compounds for ACSS1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Adenosine monophosphate5'-Adenosine monophosphate (see all 15)61-19-8targetproduct of17139284 17016423
    Adenosine triphosphate5'-ATP (see all 8)56-65-5target--17139284 17016423



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ACSS1 gene (4 alternative transcripts): 
    NM_001252675.1  NM_001252676.1  NM_001252677.1  NM_032501.3  

    Unigene Cluster for ACSS1:

    Acyl-CoA synthetase short-chain family member 1
    Hs.529353  [show with all ESTs]
    Unigene Representative Sequence: AK125923
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000484396 ENST00000323482(uc002wud.1 uc002wub.3 uc002wuc.3 uc021wbm.1 uc010gdc.3)
    ENST00000376726 ENST00000432802 ENST00000542618 ENST00000537502(uc002wua.3 uc021wbl.1)

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ACSS1 (see all 10):
    hsa-miR-3163 hsa-miR-3149 hsa-miR-513c hsa-miR-548l hsa-miR-3667-3p hsa-miR-670 hsa-miR-9* hsa-miR-514b-5p
    SwitchGear 3'UTR luciferase reporter plasmidACSS1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ACSS1
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    GenScript: all cDNA clones in your preferred vector: ACSS1 (NM_032501)
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    Primer
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    OriGene qPCR primer pairs and template standards for ACSS1
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      QuantiTect SYBR Green Assays in human, mouse, rat ACSS1
      QuantiFast Probe-based Assays in human, mouse, rat ACSS1

    Additional mRNA sequence: 

    AB058749.1 AK027817.1 AK090851.1 AK092295.1 AK125923.1 AK127566.1 AK296306.1 AK314440.1 
    AL832939.1 AL833041.1 BC032076.1 BC039261.1 BC044588.1 BC055008.1 BC114612.1 

    20 DOTS entries:

    DT.441489  DT.100036403  DT.100710053  DT.101977443  DT.100789155  DT.100789153  DT.91941783  DT.120832524 
    DT.91919704  DT.120832547  DT.120832552  DT.120832558  DT.120832561  DT.120832563  DT.120832593  DT.120832607 
    DT.120832621  DT.320002  DT.92439525  DT.80100506 

    Selected AceView cDNA sequences (see all 209):

    BX641221 AB058749 AK127566 AW242634 AA912043 BM727197 AI086481 BF514433 
    BE855412 BU740860 CK299554 CR624354 AI832144 CR616020 CA434142 BF725824 
    AW675715 BQ366261 BE041281 AI241110 AX746647 AW025667 BE293600 CR593620 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ACSS1 (see all 18)    About this scheme

    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:                                                                                                        -                 -                                 

    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:                                                                                                                  


    ECgene alternative splicing isoforms for ACSS1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ACSS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTCCCGGGCA
    ACSS1 Expression
    About this image


    ACSS1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Metencephalon
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             Thoracic Perivascular Adipose
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    ACSS1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACSS1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.529353
        Custom PCR Arrays for ACSS1
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ACSS1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Acss11 , 5 acyl-CoA synthetase short-chain family member 11, 5 84.26(n)1
    87.68(a)1
      2 (74.74 cM)5
    687381  NM_080575.21  NP_542142.11 
     1506181055 
    chicken
    (Gallus gallus)
    Aves ACSS11 acyl-CoA synthetase short-chain family member 1 74.84(n)
    79.39(a)
      416714  XM_415011.4  XP_415011.4 
    lizard
    (Anolis carolinensis)
    Reptilia ACSS16
    acyl-CoA synthetase short-chain family member 1
    71(a)
    1 ↔ 1
    1(254564050-254619335)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia acss11 acyl-CoA synthetase short-chain family member 1 69.84(n)
    76.86(a)
      100485894  XM_002937453.2  XP_002937499.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sbcb3952 sbcb395 74.23(n)   321238  CA452364.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ACS2(YLR153C)4
    ACS21
    Acetyl-coA synthetase isoform which, along with Acs1p, more4
    ACS21
    50.68(n)1
    48.78(a)1
      12(447575-445524)4
    8508461, 4  NP_013254.11, 4 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ACSS1 gene
    C10orf1292  ACSM52  ACSM32  ACSS22  ACSM2A2  ACSM12  ACSM42  ACSM2B2  
    ACSF22  
    5 SIMAP similar genes for ACSS1 using alignment to 5 protein entries:     ACS2L_HUMAN (see all proteins):
    ACSS2    ACSS3    DKFZp762G026    A-923A4.2    DKFZp666G0810

    Find genes that share paralogs with ACSS1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ACSS1 (see all 1282)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1379800691,2
    Cuntested125004239(+) ACCCCG/AGAGTC 8 /R /W mis11Minor allele frequency- A:0.00NA 4552
    rs1121706661,2
    F--24986457(+) CCTAGT/CGGAGG 4 -- ds50011Minor allele frequency- C:0.00CSA 1
    rs81843241,2
    C,H--24986471(+) GACCCA/GGGGAC 4 -- ds50016Minor allele frequency- G:0.00NS EA NA 422
    rs1816885681,2
    --24986474(+) CCAGGA/GACCAG 4 -- ds50010--------
    rs1474332111,2
    --24986655(+) TTTCTA/GTTCTG 4 -- ds50010--------
    rs2009056271,2
    --24986820(+) TCAGG-/AAAAAA 4 -- ds50010--------
    rs1853659371,2
    --24986927(+) ATGCCC/TGGGAC 4 -- ut310--------
    rs22949801,2
    C,F--24986965(+) GAAAGC/TTAAGC 4 -- ut311Minor allele frequency- T:0.01EA 1500
    rs1499954501,2
    --24987173(+) ACCCCC/GCGAAC 4 -- ut310--------
    rs1898493931,2
    --24987242(+) CCTCCC/TCTAAG 4 -- ut310--------

    HapMap Linkage Disequilibrium report for ACSS1 (24986868 - 25039616 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ACSS1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv912826CNV Loss21882294
    nsv522873CNV Gain19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ACSS1
    DNA2.0 Custom Variant and Variant Library Synthesis for ACSS1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 614355    OMIM disorders: --


    Find genes that share disorders with ACSS1           About GenesLikeMe

    Genetic Association Database (GAD): ACSS1
    Human Genome Epidemiology (HuGE) Navigator: ACSS1 (5 documents)

    Export disorders for ACSS1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ACSS1 gene, integrated from 10 sources (see all 25):
    (articles sorted by number of sources associating them with ACSS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Crystal structures of human SIRT3 displaying substrate-induced conformational changes. (PubMed id 19535340)1, 2, 9 Jin L.... Perni R.B. (J. Biol. Chem. 2009)
    2. Reversible lysine acetylation controls the activity of the mitochondrial enzyme acetyl-CoA synthetase 2. (PubMed id 16788062)1, 2, 9 Schwer B.... Verdin E. (Proc. Natl. Acad. Sci. U.S.A. 2006)
    3. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PubMed id 19851296)1, 4 Oguri M....Yamada Y. (Am. J. Hypertens. 2010)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    6. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PubMed id 20198315)1, 4 Yoshida T....Yamada Y. (Int. J. Mol. Med. 2010)
    7. Association of gene polymorphisms with chronic kidney disease in Japanese individuals. (PubMed id 19724895)1, 4 Yoshida T....Yamada Y. (Int. J. Mol. Med. 2009)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 84532 HGNC: 16091 AceView: ACAS2L Ensembl:ENSG00000154930 euGenes: HUgn84532
    ECgene: ACSS1 Kegg: 84532 H-InvDB: ACSS1

    (According to HUGE)
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    HUGE: KIAA1846

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ACSS1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ACSS1 gene:
    Search GeneIP for patents involving ACSS1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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