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    ACOX1 acyl-CoA oxidase 1 [ Homo sapiens (human) ]

    Gene ID: 51, updated on 7-Jul-2019

    Summary

    Official Symbol
    ACOX1provided by HGNC
    Official Full Name
    acyl-CoA oxidase 1provided by HGNC
    Primary source
    HGNC:HGNC:119
    See related
    Ensembl:ENSG00000161533 MIM:609751
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ACOX; SCOX; PALMCOX
    Summary
    The protein encoded by this gene is the first enzyme of the fatty acid beta-oxidation pathway, which catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs. It donates electrons directly to molecular oxygen, thereby producing hydrogen peroxide. Defects in this gene result in pseudoneonatal adrenoleukodystrophy, a disease that is characterized by accumulation of very long chain fatty acids. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in liver (RPKM 40.5), duodenum (RPKM 21.7) and 25 other tissues See more
    Orthologs

    Genomic context

    See ACOX1 in Genome Data Viewer
    Location:
    17q25.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (75941507..75979199, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (73937588..73975515, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene mitochondrial ribosomal protein L38 Neighboring gene Sharpr-MPRA regulatory region 10813 Neighboring gene Fas binding factor 1 Neighboring gene TEN1-CDK3 readthrough (NMD candidate) Neighboring gene TEN1 subunit of CST complex Neighboring gene cyclin dependent kinase 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC1198

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    FAD binding IEA
    Inferred from Electronic Annotation
    more info
     
    PDZ domain binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acyl-CoA oxidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acyl-CoA oxidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acyl-CoA oxidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    fatty acid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    flavin adenine dinucleotide binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    palmitoyl-CoA oxidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein N-terminus binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    alpha-linolenic acid metabolic process TAS
    Traceable Author Statement
    more info
     
    fatty acid beta-oxidation using acyl-CoA oxidase IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    fatty acid beta-oxidation using acyl-CoA oxidase IEA
    Inferred from Electronic Annotation
    more info
     
    fatty acid beta-oxidation using acyl-CoA oxidase IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    fatty acid beta-oxidation using acyl-CoA oxidase TAS
    Traceable Author Statement
    more info
     
    fatty acid oxidation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    generation of precursor metabolites and energy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    lipid homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    lipid metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    prostaglandin metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein targeting to peroxisome TAS
    Traceable Author Statement
    more info
     
    regulation of lipid metabolic process TAS
    Traceable Author Statement
    more info
     
    spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    very long-chain fatty acid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    very long-chain fatty acid metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    membrane HDA PubMed 
    nucleolus IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
     
    peroxisomal matrix TAS
    Traceable Author Statement
    more info
     
    peroxisomal membrane IEA
    Inferred from Electronic Annotation
    more info
     
    peroxisome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    peroxisome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    peroxisomal acyl-coenzyme A oxidase 1
    Names
    AOX
    acyl-CoA oxidase 1, palmitoyl
    acyl-CoA oxidase, straight-chain
    acyl-Coenzyme A oxidase 1, palmitoyl
    palmitoyl-CoA oxidase
    peroxisomal fatty acyl-CoA oxidase
    straight-chain acyl-CoA oxidase
    NP_001171968.1
    NP_004026.2
    NP_009223.2
    XP_011523170.1
    XP_011523171.1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008190.1 RefSeqGene

      Range
      4930..42857
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001185039.2NP_001171968.1  peroxisomal acyl-coenzyme A oxidase 1 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a.
      Source sequence(s)
      AC087289, AK296409, BC008767, BQ943492, DC297086
      UniProtKB/Swiss-Prot
      Q15067
      Conserved Domains (2) summary
      cd01150
      Location:2599
      AXO; Peroxisomal acyl-CoA oxidase
      PLN02443
      Location:1613
      PLN02443; acyl-coenzyme A oxidase
    2. NM_004035.7NP_004026.2  peroxisomal acyl-coenzyme A oxidase 1 isoform a

      See identical proteins and their annotated locations for NP_004026.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform a, alternately referred to as ACOX1b per PMID: 17603022.
      Source sequence(s)
      AC087289, BC008767, BQ943492
      Consensus CDS
      CCDS11734.1
      UniProtKB/Swiss-Prot
      Q15067
      Related
      ENSP00000293217.4, ENST00000293217.10
      Conserved Domains (2) summary
      cd01150
      Location:3637
      AXO; Peroxisomal acyl-CoA oxidase
      PLN02443
      Location:5651
      PLN02443; acyl-coenzyme A oxidase
    3. NM_007292.6NP_009223.2  peroxisomal acyl-coenzyme A oxidase 1 isoform b

      See identical proteins and their annotated locations for NP_009223.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. The encoded isoform (b, alternately known as ACOX1a per PMID: 17603022), is the same length as isoform a.
      Source sequence(s)
      AC087289, AK292965, BC008767, BQ943492, DC297086
      Consensus CDS
      CCDS11735.1
      UniProtKB/Swiss-Prot
      Q15067
      Related
      ENSP00000301608.4, ENST00000301608.8
      Conserved Domains (2) summary
      cd01150
      Location:3637
      AXO; Peroxisomal acyl-CoA oxidase
      PLN02443
      Location:5651
      PLN02443; acyl-coenzyme A oxidase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      75941507..75979199 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011524868.3XP_011523170.1  peroxisomal acyl-coenzyme A oxidase 1 isoform X1

      Conserved Domains (1) summary
      cd01150
      Location:23569
      AXO; Peroxisomal acyl-CoA oxidase
    2. XM_011524869.3XP_011523171.1  peroxisomal acyl-coenzyme A oxidase 1 isoform X2

      Conserved Domains (1) summary
      cl09933
      Location:9501
      ACAD; Acyl-CoA dehydrogenase
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