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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

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)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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
Acetyl-Coenzyme A Synthetase 2 (AMP Forming)-Like1     Acetyl-CoA Synthetase 23
ACECS12     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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 kidney disease, and tuberculosis, and among its related super-pathways are Metabolic pathways and Cytochrome P450 - arranged by substrate type. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.2  NT_011387.8  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ACSS1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Mitochondrion matrix
Sequence caution: Sequence=BAB55390.1; Type=Erroneous initiation; Sequence=BAC03853.1; Type=Frameshift;
Positions=250; Sequence=BAC03853.1; Type=Miscellaneous discrepancy; Note=Sequencing errors;
3 PDB 3D structures from and Proteopedia for ACSS1:
3GLR (3D)        3GLT (3D)        3GLU (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:

  • UniProtKB: Reversibly acetylated on Lys-642. The acetyl-CoA synthase activity is inhibited by acetylation and activated by
    deacetylation
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NUB1

  • 4/11 DME Specific Peptides for ACSS1 (Q9NUB1) (see all 11)
     YFTGDGA  AMLACAR  WQTETGG  YVVYGPL 

    ACSS1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ACSS1 Protein Expression
    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
    Human Recombinant Protein Products for ACSS1: 
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    Cloud-Clone Corp. Proteins for ACSS1 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    ACSS1 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for ACSS1


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

    5 InterPro protein domains:
     IPR011904 Ac_CoA_lig
     IPR000873 AMP-dep_Synth/Lig
     IPR024597 Acyl-CoA_synth_DUF3448
     IPR020845 AMP-binding_CS
     IPR025110 DUF4009

    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


    ACSS1 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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--
         
    ACSS1 for ontologies           About GeneDecksing


    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  homeostasis/metabolism  mortality/aging 

    ACSS1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Acss1tm1Jsak for ACSS1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ACSS1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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 

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    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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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ACSS1 About   (see all 11)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    2Cytochrome P450 - arranged by substrate type
    Phase 1 - Functionalization of compounds0.74
    3Statin Pathway, Pharmacodynamics
    Statin Pathway0.73
    4Biological oxidations
    Biological oxidations0.55
    5Ifosfamide Pathway, Pharmacodynamics
    Ethanol oxidation0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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

    4        Reactome Pathways for ACSS1
        Ethanol oxidation
    Metabolism
    Biological oxidations
    Phase 1 - Functionalization of compounds


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


    ACSS1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ACSS1

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

    5/186 Interacting proteins for ACSS1 (Q9NUB13 ENSP000003169244) via UniProtKB, MINT, STRING, and/or I2D (see all 186)
    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): 5/8 biological process terms (GO ID links to tree view) (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--

    ACSS1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ACSS1 (ACS2L)

    10/12 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

    Search CenterWatch for drugs/clinical trials and news about ACSS1 / ACS2L

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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)

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    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 

    24/209 AceView cDNA sequences (see all 209):

    AK090851 BX358720 AB058749 AI202461 AW675715 CA434142 AW025667 F09996 
    AK127566 BU740860 BE041281 BX641221 BQ187659 AA912043 BE293600 AX746647 
    AI168487 AI241110 AW242634 CK299554 AK027817 AK125923 AK024424 BF725824 

    GeneLoc Exon Structure

    5/18 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ACSS1 expression in normal human tissues (normalized intensities)      ACSS1 embryonic expression: see
    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 
     5/27 selected tissues (see all 27) fully expand
     
     Brain (Nervous System)    fully expand to see all 11 entries
             Thalamus
             brain/midbrain   
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Metencephalon
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             Bone Marrow CD105+ Cells   
     
     Pancreas (Endocrine System)    fully expand to see all 2 entries
             Islets of Langerhans
             pancreas ; exocrine glandular cells   

    See ACSS1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ACSS1

    SOURCE GeneReport for Unigene cluster: Hs.529353
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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)
    About This Section

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

    Orthologs for ACSS1 gene from 5/14 species (see all 14)    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 84.46(n)1
    88.09(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_415011.3  XP_415011.3 
    lizard
    (Anolis carolinensis)
    Reptilia ACSS16
    --
    Uncharacterized protein
    70(a)
    63(a)
    1 ↔ 1
    possible ortholog
    1(254564050-254619335)
    1(23535964-23557822)
    zebrafish
    (Danio rerio)
    Actinopterygii sbcb3952 sbcb395 74.23(n)   321238  CA452364.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ACS2(YLR153C)4
    ACS11
    Acetyl-coA synthetase isoform which, along with Acs1p, more4
    Acs1p1
    52.47(n)1
    48.62(a)1
      12(447575-445524)4
    8512451  NP_009347.11  8508464 
     NP_013254.14 


    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)
    About This Section
    Paralogs for ACSS1 gene
    C10orf1292  ACSM52  ACSM32  ACSS22  ACSM2A2  ACSM12  ACSM42  ACSM2B2  
    5 SIMAP similar genes for ACSS1 using alignment to 5 protein entries:     ACS2L_HUMAN (see all proteins):
    ACSS2    ACSS3    DKFZp762G026    A-923A4.2    DKFZp666G0810

    ACSS1 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1282 SNPs in ACSS1 are shown (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

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

    4 diseases for ACSS1:    About MalaCards
    kidney disease    tuberculosis    hepatocellular carcinoma    hepatitis


    ACSS1 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for ACSS1 gene, integrated from 9 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. (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. (2006)
    3. Assessment of a polymorphism of SDK1 with hypertensio n in Japanese Individuals. (PubMed id 19851296)1, 4 Oguri M....Yamada Y. (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. (2010)
    5. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    6. Association of genetic variants with hemorrhagic stro ke in Japanese individuals. (PubMed id 20198315)1, 4 Yoshida T....Yamada Y. (2010)
    7. Association of gene polymorphisms with chronic kidney disease in Japanese individuals. (PubMed id 19724895)1, 4 Yoshida T....Yamada Y. (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. (2004)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    10. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 84532 HGNC: 16091 AceView: ACAS2L Ensembl:ENSG00000154930 euGenes: HUgn84532
    ECgene: ACSS1 Kegg: 84532 H-InvDB: ACSS1

    (According to HUGE)
    About This Section
    HUGE: KIAA1846

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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