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

ACAA1 Gene

protein-coding   GIFtS: 65
GCID: GC03M038164

Acetyl-CoA Acyltransferase 1

(Previous name: acetyl-Coenzyme A acyltransferase 1)
  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
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   

Export aliases for ACAA1 gene to outside databases

Previous GC identifers: GC03M037452 GC03M037977 GC03M038124 GC03M038139


(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 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, and among its related super-pathways are Metabolic pathways and Linoleic acid (LA) metabolism. GO annotations related to this gene include palmitoyl-CoA oxidase activity and acetyl-CoA C-acyltransferase activity. An important paralog of this gene is HADHB.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.2  NT_022517.18  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ACAA1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: THIK_HUMAN, P09110 (See protein sequence)
Recommended Name: 3-ketoacyl-CoA thiolase, peroxisomal precursor  
Size: 424 amino acids; 44292 Da
Subunit: Homodimer
Subcellular location: Peroxisome
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P09110

  • 4/16 DME Specific Peptides for ACAA1 (P09110) (see all 16)
     RGGFKDT  GLPILGV  PAFKKDG  GSTTAGN 

    ACAA1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ACAA1 Protein Expression
    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
    Human Recombinant Protein Products for ACAA1: 
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    Cloud-Clone Corp. Proteins for ACAA1 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    ACAA1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/8 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


    ACAA1 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: 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 (GO ID links to tree view):    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 ----
         
    ACAA1 for ontologies           About GeneDecksing


    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 - Custom generated mouse model solutions for ACAA1 
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    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 ACAA1 About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    2alpha-linolenic (omega3) and linoleic (omega6) acid metabolism
    alpha-linolenic (omega3) and linoleic (omega6) acid metabolism0.55
    Beta-oxidation of very long chain fatty acids0.42
    alpha-linolenic acid (ALA) metabolism0.55
    3Linoleic acid metabolism
    alpha-Linolenic acid metabolism0.57
    4fatty acid activation
    fatty acid beta-oxidation VI (peroxisome)0.46
    5Branched-chain amino acid catabolism
    Valine, leucine and isoleucine degradation0.39

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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


    5/6        Reactome Pathways for ACAA1 (see all 6)
        Beta-oxidation of very long chain fatty acids
    Metabolism
    Peroxisomal lipid metabolism
    alpha-linolenic (omega3) and linoleic (omega6) acid metabolism
    alpha-linolenic acid (ALA) metabolism


    5/7         Kegg Pathways  (Kegg details for ACAA1) (see all 7):
        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


    ACAA1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ACAA1

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

    5/74 Interacting proteins for ACAA1 (P091103 ENSP000003336644) via UniProtKB, MINT, STRING, and/or I2D (see all 74)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACOX1Q150673, ENSP000002932174I2D: score=1 STRING: ENSP00000293217
    HMGCS1Q015813, ENSP000003227064I2D: score=1 STRING: ENSP00000322706
    OXSMQ9NWU13, ENSP000002807014I2D: score=1 STRING: ENSP00000280701
    HSD17B4P516593, ENSP000002562164I2D: score=1 STRING: ENSP00000256216
    ACSS1Q9NUB13, ENSP000003169244I2D: score=1 STRING: ENSP00000316924
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (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 ----

    ACAA1 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

    ACAA1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ACAA1 (THIK)

    10/58 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)

    Search CenterWatch for drugs/clinical trials and news about ACAA1 / THIK

    (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 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
    18/20 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 

    24/31 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 

    24/488 AceView cDNA sequences (see all 488):

    BQ929471 CB134854 CA439150 CR618847 AI611832 BI489896 CR607199 BU070374 
    BM665244 CR612253 CB141251 R13252 AW403625 CB130065 CN483936 BM923993 
    X51460 BG740132 CA438558 CB135642 AW024747 CB147335 AJ712711 CA440543 

    GeneLoc Exon Structure

    5/19 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™, 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

    ACAA1 expression in normal human tissues (normalized intensities)      ACAA1 embryonic expression: see
    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 
     5/22 selected tissues (see all 22) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Cerebral Cortex
             brain/midbrain   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 2 entries
             urinary bladder ; urothelial cells   
             visceral organ   
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Membranous Facial Bones
             skeleton/cranium   
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Metanephros
             kidney ; cells in tubules   
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             lung ; pneumocytes   

    See ACAA1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ACAA1

    SOURCE GeneReport for Unigene cluster: Hs.643487
        SABiosciences Expression via Pathway-Focused 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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ACAA1 gene from 8/21 species (see all 21)    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
    Uncharacterized protein
    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 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons PKT41 acetyl-CoA acyltransferase 1 57.66(n)
    57.58(a)
      839434  NM_100351.4  NP_171965.1 
    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)
    About This Section
    Paralogs for ACAA1 gene
    HADHB2  
    4 SIMAP similar genes for ACAA1 using alignment to 8 protein entries:     THIK_HUMAN (see all proteins):
    ACAT2    ACAA2    ACAT1    HADHB

    ACAA1 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

    10/340 SNPs in ACAA1 are shown (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: --
    SABiosciences Cancer Mutation PCR Assays
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    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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604054    OMIM disorders: --

    20 diseases for ACAA1:    About MalaCards
    thiolase deficiency    beta-ketothiolase deficiency    ketothiolase deficiency    zellweger syndrome
    end stage renal failure    rhizomelic chondrodysplasia punctata    infantile refsum disease    refsum disease
    peroxisome biogenesis disorders    chondrodysplasia    adrenoleukodystrophy    dermatomyositis
    meningioma    chronic lymphocytic leukemia    hypoxia    tuberculosis
    asthma    prostate cancer    leukemia    prostatitis

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

    ACAA1 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for ACAA1 gene, integrated from 9 sources (see all 42):
    (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. (1991)
    2. Risk of meningioma and common variation in genes rela ted to innate immunity. (PubMed id 20406964)1, 4 Rajaraman P....Inskip P.D. (2010)
    3. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    4. Polymorphisms in innate immunity genes and risk of ch ildhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (2010)
    5. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (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. (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. (2004)
    8. Angiotensin-converting enzyme genotype and the ventilatory response to exertional hypoxia. (PubMed id 14621081)1, 4 Patel S....Peacock A.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. (1989)
    10. Nucleotide sequence of human peroxisomal 3-oxoacyl-CoA thiolase. (PubMed id 3194209)1, 2 Bout A.... Tager J.M. (1988)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 30 HGNC: 82 AceView: ACAA1 Ensembl:ENSG00000060971 euGenes: HUgn30
    ECgene: ACAA1 Kegg: 30 H-InvDB: ACAA1

    (According to HUGE)
    About This Section
      --

    (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 ACAA1 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 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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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