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ACAA1 Gene

protein-coding   GIFtS: 66
GCID: GC03M038164

Acetyl-CoA Acyltransferase 1

(Previous name: acetyl-Coenzyme A acyltransferase 1)
  See ACAA1-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)
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This gene clusters with an RNA gene
Subcategory (RNA class): antisense

Quality score for the ORGUL clustered with this gene is 3

Aliases
Acetyl-CoA Acyltransferase 11 2     3-Ketoacyl-CoA Thiolase, Peroxisomal2
Acetyl-Coenzyme A Acyltransferase 11 2     THIO2
Peroxisomal 3-Oxoacyl-Coenzyme A Thiolase1 2     beta-ketothiolase2
Peroxisomal 3-Oxoacyl-CoA Thiolase2 3     Beta-ketothiolase3
ACAA2 3     Acetyl-CoA Acyltransferase3
PTHIO2 3     EC 2.3.18
EC 2.3.1.163 8     

External Ids:    HGNC: 821   Entrez Gene: 302   Ensembl: ENSG000000609717   OMIM: 6040545   UniProtKB: P091103   
ORGUL members:         

Export aliases for ACAA1 gene to outside databases

Previous GC identifers: GC03M037452 GC03M037977 GC03M038124 GC03M038139


(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 ACAA1 Gene:
This gene encodes an enzyme operative in the beta-oxidation system of the peroxisomes. Deficiency of this enzyme
leads to pseudo-Zellweger syndrome. Alternative splicing results in multiple transcript variants. (provided by
RefSeq, Jul 2008)

GeneCards Summary for ACAA1 Gene:
ACAA1 (acetyl-CoA acyltransferase 1) is a protein-coding gene. Diseases associated with ACAA1 include thiolase deficiency, and beta-ketothiolase deficiency. GO annotations related to this gene include palmitoyl-CoA oxidase activity and acetyl-CoA C-acyltransferase activity.

Gene Wiki entry for ACAA1 Gene


(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_000003.11  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ACAA1 gene promoter:
         c-Fos   STAT1   AP-1   STAT1beta   IRF-1   STAT1alpha   PPAR-gamma1   STAT3   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidACAA1 promoter sequence
   Search Chromatin IP Primers for ACAA1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ACAA1


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

Entrez Gene cytogenetic band: 3p22.2   Ensembl cytogenetic band:  3p22.2   HGNC cytogenetic band: 3p22.2

ACAA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACAA1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M038164:  view genomic region     (about GC identifiers)

Start:
38,144,620 bp from pter      End:
38,178,733 bp from pter
Size:
34,114 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: THIK_HUMAN, P09110 (See protein sequence)
Recommended Name: 3-ketoacyl-CoA thiolase, peroxisomal precursor  
Size: 424 amino acids; 44292 Da
Subunit: Homodimer
1 PDB 3D structure from and Proteopedia for ACAA1:
2IIK (3D)    
Secondary accessions: G5E935 Q96CA6
Alternative splicing: 2 isoforms:  P09110-1   P09110-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ACAA1: NX_P09110

Explore proteomics data for ACAA1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ACAA1 (P09110) (see all 16)
     RGGFKDT  GLPILGV  PAFKKDG  GSTTAGN 


    See ACAA1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001123882.1  NP_001598.1  

    ENSEMBL proteins: 
     ENSP00000333664   ENSP00000301810   ENSP00000414021   ENSP00000395183   ENSP00000391078  
     ENSP00000398172   ENSP00000389226   ENSP00000396485   ENSP00000405785   ENSP00000403124  
     ENSP00000445710   ENSP00000391918  
    Reactome Protein details: P09110

    ACAA1 Human Recombinant Protein Products:

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    Novus Biologicals ACAA1 Proteins
    Novus Biologicals ACAA1 Lysates
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    ProSpec Recombinant Protein for ACAA1
    Cloud-Clone Corp. Proteins for ACAA1

     
    Search eBioscience for Proteins for ACAA1 

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 8):
     IPR002155 Thiolase
     IPR020610 Thiolase_AS
     IPR020616 Thiolase_N
     IPR020617 Thiolase_C
     IPR020613 Thiolase_CS

    Graphical View of Domain Structure for InterPro Entry P09110

    ProtoNet protein and cluster: P09110

    1 Blocks protein domain: IPB002155 Thiolase

    UniProtKB/Swiss-Prot: THIK_HUMAN, P09110
    Similarity: Belongs to the thiolase family


    Find genes that share domains with ACAA1           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: THIK_HUMAN, P09110
    Catalytic activity: Acyl-CoA + acetyl-CoA = CoA + 3-oxoacyl-CoA
    Induction: Peroxisomal thiolase is markedly induced (at the level of transcription) by various hypolipidemic
    compounds in parallel with the other two enzymes of the peroxisomal beta-oxidation system

         Genatlas biochemistry entry for ACAA1:
    acetyl-CoA acyltransferase,(peroxisomal matrix 3-oxoacyl-CoA thiolase),medium or long chain,catalyzing the fourth
    step of fatty acid beta-oxidation,expressed

         Enzyme Numbers (IUBMB): EC 2.3.1.161 2 EC 2.3.12

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0003988acetyl-CoA C-acyltransferase activity IEA--
    GO:0005515protein binding IPI18281296
    GO:0016401palmitoyl-CoA oxidase activity IMP2882519
    GO:0016747transferase activity, transferring acyl groups other than amino-acyl groups ----
         
    Find genes that share ontologies with ACAA1           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for ACAA1:
     Decreased Wnt reporter activit  Increased number of cells in m  Wnt reporter downregulated 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ACAA1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ACAA1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ACAA1

    miRNA
    Products:
        
    miRTarBase miRNAs that target ACAA1:
    hsa-mir-877-3p (MIRT036918), hsa-mir-10a-5p (MIRT047559)

    Block miRNA regulation of human, mouse, rat ACAA1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate ACAA1
    SwitchGear 3'UTR luciferase reporter plasmidACAA1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ACAA1

    Gene Editing
    Products:
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    GenScript: all cDNA clones in your preferred vector (see all 2): ACAA1 (NM_001607)
    Sino Biological Human cDNA Clone for ACAA1
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACAA1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACAA1


    (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
    THIK_HUMAN, P09110: Peroxisome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    peroxisome5
    mitochondrion2
    cytosol1
    endoplasmic reticulum1
    nucleus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005777peroxisome IDA1347505
    GO:0005782peroxisomal matrix TAS--
    GO:0043231intracellular membrane-bounded organelle IDA--

    Find genes that share ontologies with ACAA1           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 ACAA1 About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    2PPAR signaling pathway
    fatty acid beta-oxidation VI (peroxisome)0.00
    PPAR signaling pathway
    3Fatty acid metabolism
    Fatty acid metabolism0.42
    Fatty acid degradation0.42
    4Peroxisomal lipid metabolism
    Peroxisomal lipid metabolism
    Beta-oxidation of very long chain fatty acids0.00
    5alpha-linolenic (omega3) and linoleic (omega6) acid metabolism
    alpha-linolenic (omega3) and linoleic (omega6) acid metabolism
    alpha-linolenic acid (ALA) metabolism0.00


    Find genes that share SuperPaths with ACAA1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for ACAA1
        fatty acid beta-oxidation VI (peroxisome)


    2 Reactome Pathways for ACAA1
        Beta-oxidation of very long chain fatty acids
    alpha-linolenic acid (ALA) metabolism


    Selected Kegg Pathways  (Kegg details for ACAA1) (see all 8):
        Fatty acid degradation
    Valine, leucine and isoleucine degradation
    alpha-Linolenic acid metabolism
    Biosynthesis of unsaturated fatty acids
    Metabolic pathways

    UniProtKB/Swiss-Prot: THIK_HUMAN, P09110
    Pathway: Lipid metabolism; fatty acid metabolism

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACAA1: 

              Fatty Acid Metabolism in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ACAA1

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

    Selected Interacting proteins for ACAA1 (P091103 ENSP000003336644) via UniProtKB, MINT, STRING, and/or I2D (see all 88)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACOX1Q150673, ENSP000002932174I2D: score=1 STRING: ENSP00000293217
    HMGCS1Q015813, ENSP000003227064I2D: score=1 STRING: ENSP00000322706
    HSD17B4P516593, ENSP000002562164I2D: score=1 STRING: ENSP00000256216
    ACSS1Q9NUB13, ENSP000003169244I2D: score=1 STRING: ENSP00000316924
    PEX7O006283, ENSP000003156804I2D: score=6 STRING: ENSP00000315680
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000038very long-chain fatty acid metabolic process IMP2318981
    GO:0006635fatty acid beta-oxidation IMP2365812
    GO:0008152metabolic process ----
    GO:0008206bile acid metabolic process IMP2318981
    GO:0008610lipid biosynthetic process ----

    Find genes that share ontologies with ACAA1           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 ACAA1 (THIK)

    Selected HMDB Compounds for ACAA1 (see all 58)    About this table
    CompoundSynonyms CAS #PubMed Ids
    (2E)-Decenoyl-CoA(E)-S-2-decenoate Coenzyme A (see all 15)10018-95-8--
    (2E)-Dodecenoyl-CoA2-trans-Dodecenoyl-Coenzyme A (see all 4)1066-12-2--
    (2E)-Hexadecenoyl-CoAtrans-2-Hexadecenoyl-CoA (see all 4)4460-95-1--
    (2E)-Octenoyl-CoA(E)-S-2-octenoate Coenzyme A (see all 16)10018-94-7--
    (2E)-Tetradecenoyl-CoA(2E)-Tetradecenoyl-Coenzyme A (see all 8)38795-33-4--
    2-Methylacetoacetyl-CoA2-Methyl-3-acetoacetyl-CoA (see all 10)6712-01-2--
    2-Methylbutyryl-CoA2-methylbutanoyl-CoA (see all 11)6712-02-3--
    2-Methylhexanoyl-CoA2-Methylhexanoyl-CoEnzyme A (see all 5)----
    3-Methylcrotonyl-CoA3-Methylbut-2-enoyl-CoA (see all 14)793193-48-3--
    3-Oxodecanoyl-CoA3-Ketodecanoyl-CoA (see all 3)50411-91-1--

    3 Novoseek inferred chemical compound relationships for ACAA1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    3-oxoacyl-coa 98 8 7750978 (2), 2365812 (1), 1618493 (1), 1347505 (1) (see all 6)
    acaa 91.5 6 7750978 (3), 1679347 (2)
    phytanic acid 80.3 1 1618493 (1)



    Find genes that share compounds with ACAA1           About GenesLikeMe



    (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 ACAA1 gene (2 alternative transcripts): 
    NM_001130410.1  NM_001607.3  

    Unigene Cluster for ACAA1:

    Acetyl-CoA acyltransferase 1
    Hs.643487  [show with all ESTs]
    Unigene Representative Sequence: NR_024024
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000451419 ENST00000333167(uc003cht.3) ENST00000301810(uc003chu.3)
    ENST00000411549 ENST00000469559 ENST00000480865 ENST00000450296 ENST00000452171
    ENST00000469600 ENST00000421218 ENST00000440176 ENST00000423611 ENST00000447223
    ENST00000418880 ENST00000465181 ENST00000484284 ENST00000460424 ENST00000489559

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    Additional mRNA sequence: 

    AF035295.1 AK025138.1 AK293716.1 AK301056.1 AK303251.1 AK316551.1 BC000635.2 BC011977.1 
    BC014474.1 BC025780.1 BC039837.1 NR_024024.1 X12966.1 X14813.1 X51460.1 

    Selected DOTS entries (see all 31):

    DT.100761131  DT.455613  DT.75133679  DT.95212056  DT.120879253  DT.100879788  DT.120879302  DT.40133698 
    DT.100879797  DT.100879782  DT.100879794  DT.100879790  DT.100879791  DT.120879268  DT.91788008  DT.95212159 
    DT.100879784  DT.100879799  DT.120879221  DT.100835021  DT.100836531  DT.100879786  DT.120879231  DT.120879271 

    Selected AceView cDNA sequences (see all 488):

    BQ929471 BE906226 CB130079 CR598152 CB146602 BE349372 CR591578 AI133440 
    CB134854 BG827134 BM798684 CR625217 CR603602 CA391096 CR618847 BM818496 
    BC011977 BC014474 CF142012 BM905725 CR608061 CR612814 CD366969 X14813 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ACAA1 (see all 19)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c ^ 12a · 12b · 12c ^ 13 ^
    SP1:                                                  -     -     -           -     -     -                                         -                       -   
    SP2:                                                  -           -           -     -     -                                                                     
    SP3:                                                  -     -     -           -     -     -                                         -                           
    SP4:                                                  -     -     -           -     -     -                 -     -                 -                       -   
    SP5:                                                  -     -     -           -     -     -           -                             -                           

    ExUns: 14a · 14b · 14c ^ 15 ^ 16a · 16b ^ 17a · 17b · 17c · 17d
    SP1:                                                            
    SP2:                                                            
    SP3:                                                            
    SP4:                                                            
    SP5:                                                            


    ECgene alternative splicing isoforms for ACAA1

    (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)
    About This Section

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    ACAA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ACAA1 Expression
    About this image


    ACAA1 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 6 entries
             Cerebral Cortex
     
     Kidney (Urinary System)
             Metanephros
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Bone (Muscoskeletal System)
             Membranous Facial Bones
     
     Eye (Sensory Organs)
             Lens
    ACAA1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACAA1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.643487
        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACAA1: 
              Fatty Acid Metabolism in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

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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 eukaryotes.

    Orthologs for ACAA1 gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Acaa1a1 , 5 acetyl-Coenzyme A acyltransferase 1A1, 5 85.06(n)1
    85.61(a)1
      9 (71.33 cM)5
    1138681  NM_130864.31  NP_570934.11 
     1193396765 
    chicken
    (Gallus gallus)
    Aves ACAA11 acetyl-CoA acyltransferase 1 74.51(n)
    80.29(a)
      770094  NM_001197288.1  NP_001184217.1 
    lizard
    (Anolis carolinensis)
    Reptilia ACAA16
    acetyl-CoA acyltransferase 1
    71(a)
    1 ↔ 1
    6(1012812-1024662)
    African clawed frog
    (Xenopus laevis)
    Amphibia acaa1-prov2 acetyl-Coenzyme A acyltransferase 1 77.19(n)    BC054299.1 
    zebrafish
    (Danio rerio)
    Actinopterygii acaa11 acetyl-Coenzyme A acyltransferase 1 66.67(n)
    73.14(a)
      431754  NM_001002207.1  NP_001002207.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes POT1(YIL160C)4 3-ketoacyl-CoA thiolase with broad chain length specificity, more   --   9(41444-40191) 854646  NP_012106.1 
    soybean
    (Glycine max)
    eudicotyledons 444874652   -- 75.67(n)  
    rice
    (Oryza sativa)
    Liliopsida AK072460.12   -- 74.97(n)    AK072460.1 


    ENSEMBL Gene Tree for ACAA1 (if available)
    TreeFam Gene Tree for ACAA1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ACAA1 gene
    4 SIMAP similar genes for ACAA1 using alignment to 8 protein entries:     THIK_HUMAN (see all proteins):
    ACAT2    ACAA2    ACAT1    HADHB

    Find genes that share paralogs with ACAA1           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 ACAA1 (see all 340)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs21281111,2
    C,F,A,H--38098508(-) agagcC/Tgggac 3 -- int114Minor allele frequency- T:0.13NS EA NA WA CSA 778
    rs21281101,2
    C,F,A--38098571(-) AGGCAT/CCAGCT 3 -- int14Minor allele frequency- C:0.21NA CSA WA 124
    rs1505340851,2
    C--38098648(+) ACACCA/GTCACA 3 -- int10--------
    rs1840019961,2
    --38098670(+) AGCAAA/TGCTTT 3 -- int10--------
    rs754624371,2
    C--38098679(+) TTGTCA/GGGTTT 3 -- int10--------
    rs74321741,2
    C,H--38098814(+) tataaC/Ataata 3 -- int16Minor allele frequency- A:0.00NS EA NA 422
    rs1444272351,2
    --38099139(+) CTGTCA/GAGATT 3 -- int10--------
    rs1996306111,2
    --38099246(+) CTTCCC/TACGGC 5 R G mis10--------
    rs1457051191,2
    C,F--38099248(+) TCCCAC/TGGCGC 5 H R mis12Minor allele frequency- T:0.00NA EU 5871
    rs1179166641,2
    C,F--38099263(+) GCTCAT/CTGAGC 5 /N /S mis11Minor allele frequency- C:0.02EA 120

    HapMap Linkage Disequilibrium report for ACAA1 (38144620 - 38178733 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for ACAA1: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ACAA1
    DNA2.0 Custom Variant and Variant Library Synthesis for ACAA1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604054    OMIM disorders: --

    4 diseases for ACAA1:    
    About MalaCards
    thiolase deficiency    beta-ketothiolase deficiency    ketothiolase deficiency    rhizomelic chondrodysplasia punctata

    3 diseases from the University of Copenhagen DISEASES database for ACAA1:
    Zellweger syndrome     beta-ketothiolase deficiency     Rhizomelic chondrodysplasia punctata

    Find genes that share disorders with ACAA1           About GenesLikeMe

    1 Novoseek inferred disease relationship for ACAA1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    chondrodysplasia punctata 87.3 1 1347505 (1)

    Genatlas disease: ACAA1
    pseudo Zellweger syndrome with abundant peroxisomes and normal plasmalogen biosynthesis (ACAA deficiency)

    Genetic Association Database (GAD): ACAA1
    Human Genome Epidemiology (HuGE) Navigator: ACAA1 (11 documents)

    Export disorders for ACAA1 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 ACAA1 gene, integrated from 10 sources (see all 41):
    (articles sorted by number of sources associating them with ACAA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of the gene encoding human peroxisomal 3-oxoacyl-CoA thiolase (ACAA). No large DNA rearrangement in a thiolase-deficient patient. (PubMed id 1679347)1, 2, 9 Bout A.... Benne R. (Biochim. Biophys. Acta 1991)
    2. Risk of meningioma and common variation in genes related to innate immunity. (PubMed id 20406964)1, 4 Rajaraman P....Inskip P.D. (amp 2010)
    3. 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)
    4. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (Hum. Immunol. 2010)
    5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    6. Polymorphism of the ACE Gene in dialysis patients: overexpression of DD genotype in type 2 diabetic end-stage renal failure patients. (PubMed id 16385653)1, 4 Park H.C....Ha S.K. (Yonsei Med. J. 2005)
    7. 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)
    8. Angiotensin-converting enzyme genotype and the ventilatory response to exertional hypoxia. (PubMed id 14621081)1, 4 Patel S....Peacock A.J. (Eur. Respir. J. 2003)
    9. Complete cDNA sequence of human foetal liver peroxisomal 3-oxoacyl- CoA thiolase. (PubMed id 2726492)1, 2 Fairbairn L.J. and Tanner M.J.A. (Nucleic Acids Res. 1989)
    10. Nucleotide sequence of human peroxisomal 3-oxoacyl-CoA thiolase. (PubMed id 3194209)1, 2 Bout A.... Tager J.M. (Nucleic Acids Res. 1988)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 30 HGNC: 82 AceView: ACAA1 Ensembl:ENSG00000060971 euGenes: HUgn30
    ECgene: ACAA1 Kegg: 30 H-InvDB: ACAA1

    (According to HUGE)
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      --

    (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 ACAA1 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 ACAA1 gene:
    Search GeneIP for patents involving ACAA1

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



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