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

    Gene ID: 51, updated on 2-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:119
    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
    AOX; ACOX; SCOX; MITCH; 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
    mouse all
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    Genomic context

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    See ACOX1 in Genome Data Viewer
    Location:
    17q25.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (75941507..75979166, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (76834659..76872295, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (73937588..73975247, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8995 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8996 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8997 Neighboring gene mitochondrial ribosomal protein L38 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:73906944-73907104 Neighboring gene Sharpr-MPRA regulatory region 10813 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:73917188-73918387 Neighboring gene Fas binding factor 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:73921784-73922983 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8998 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12784 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:73966147-73966266 Neighboring gene hESC enhancers GRCh37_chr17:73974421-73975004 and GRCh37_chr17:73975005-73975588 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12786 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73979473-73980302 Neighboring gene TEN1-CDK3 readthrough (NMD candidate) Neighboring gene TEN1 subunit of CST complex Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12787 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12788 Neighboring gene uncharacterized LOC124904061 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12789 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9000 Neighboring gene MPRA-validated peak3002 silencer Neighboring gene Sharpr-MPRA regulatory region 2383 Neighboring gene cyclin dependent kinase 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. ACOX1 Gain-of-Function Variant in Two German Pediatric Patients, in One Case Mimicking Autoimmune Inflammatory Disease. Thiels C, et al. Neuropediatrics, 2024 Apr. PMID 37846133
    2. Peroxisomal beta-oxidation of branched chain fatty acids in human skin fibroblasts. Singh H, et al. J Lipid Res, 1992 Nov. PMID 1464743
    3. Distinction between peroxisomal bifunctional enzyme and acyl-CoA oxidase deficiencies. Watkins PA, et al. Ann Neurol, 1995 Sep. PMID 7668838
    4. Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy. Fournier B, et al. J Clin Invest, 1994 Aug. PMID 8040306, Free PMC Article
    5. Isolation of the human peroxisomal acyl-CoA oxidase gene: organization, promoter analysis, and chromosomal localization. Varanasi U, et al. Proc Natl Acad Sci U S A, 1994 Apr 12. PMID 8159712, Free PMC Article

    See all (73) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ACOX1 Gain-of-Function Variant in Two German Pediatric Patients, in One Case Mimicking Autoimmune Inflammatory Disease.
      Title: ACOX1 Gain-of-Function Variant in Two German Pediatric Patients, in One Case Mimicking Autoimmune Inflammatory Disease.
    2. ACOX1-mediated peroxisomal fatty acid oxidation contributes to metabolic reprogramming and survival in chronic lymphocytic leukemia.
      Title: ACOX1-mediated peroxisomal fatty acid oxidation contributes to metabolic reprogramming and survival in chronic lymphocytic leukemia.
    3. MiR-103-3p promotes hepatic steatosis to aggravate nonalcoholic fatty liver disease by targeting of ACOX1.
      Title: MiR-103-3p promotes hepatic steatosis to aggravate nonalcoholic fatty liver disease by targeting of ACOX1.
    4. Association Between ACOX1 and NRF1 Gene Expression and Hepatitis B and C Virus Infections and Hepatocellular Carcinoma in Liver Transplant Patients (Shiraz, Iran).
      Title: Association Between ACOX1 and NRF1 Gene Expression and Hepatitis B and C Virus Infections and Hepatocellular Carcinoma in Liver Transplant Patients (Shiraz, Iran).
    5. Crystal structures of apo- and FAD-bound human peroxisomal acyl-CoA oxidase provide mechanistic basis explaining clinical observations.
      Title: Crystal structures of apo- and FAD-bound human peroxisomal acyl-CoA oxidase provide mechanistic basis explaining clinical observations.
    6. Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiency.
      Title: Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiency.
    7. Enterovirus 71 induces neural cell apoptosis and autophagy through promoting ACOX1 downregulation and ROS generation.
      Title: Enterovirus 71 induces neural cell apoptosis and autophagy through promoting ACOX1 downregulation and ROS generation.
    8. Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms.
      Title: Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms.
    9. In non-alcoholic fatty liver disease miR-222 promotes the accumulation of triglycerides by inhibiting ACOX1.
      Title: miR-222 targets ACOX1, promotes triglyceride accumulation in hepatocytes.
    10. Because patients with AOx deficiency suffer from more severe symptoms than those with X-ALD, accumulation of VLC-PUFA and/or reduction of DHA may be associated with the severity of peroxisomal diseases.
      Title: Very-long-chain polyunsaturated fatty acids accumulate in phosphatidylcholine of fibroblasts from patients with Zellweger syndrome and acyl-CoA oxidase1 deficiency.
    Submit: New GeneRIF Correction See all GeneRIFs (15)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Acyl-CoA oxidase deficiency
    MedGen: C1849678 OMIM: 264470 GeneReviews: Not available
    		not available
    Mitchell syndrome
    MedGen: C5394554 OMIM: 618960 GeneReviews: Not available
    		not available

    Variation

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    See Variation Viewer (GRCh37.p13)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC1198

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables FAD binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables FAD binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables PDZ domain binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables acyl-CoA oxidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables acyl-CoA oxidase activity IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    enables acyl-CoA oxidase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables fatty acid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables flavin adenine dinucleotide binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables palmitoyl-CoA oxidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables palmitoyl-CoA oxidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cholesterol homeostasis IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in fatty acid beta-oxidation using acyl-CoA oxidase IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in fatty acid beta-oxidation using acyl-CoA oxidase IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in fatty acid catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in fatty acid oxidation IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in fatty acid oxidation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in generation of precursor metabolites and energy IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in hydrogen peroxide biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in lipid homeostasis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in lipid homeostasis IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in lipid metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in peroxisome fission IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in prostaglandin metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in very long-chain fatty acid beta-oxidation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in very long-chain fatty acid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in very long-chain fatty acid metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane HDA PubMed 
    located_in peroxisomal matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in peroxisomal membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in peroxisome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in peroxisome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in peroxisome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    peroxisomal acyl-coenzyme A oxidase 1
    Names
    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_047292138.1
    XP_047292139.1
    XP_054172311.1
    XP_054172312.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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
      5198..42857
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001185039.2 → NP_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/TrEMBL
      B4DU07
      Conserved Domains (2) summary
      cd01150
      Location:2 → 599
      AXO; Peroxisomal acyl-CoA oxidase
      PLN02443
      Location:1 → 613
      PLN02443; acyl-coenzyme A oxidase

    2. NM_004035.7 → NP_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/TrEMBL
      B4DU07
      Related
      ENSP00000293217.4, ENST00000293217.10
      Conserved Domains (2) summary
      cd01150
      Location:3 → 637
      AXO; Peroxisomal acyl-CoA oxidase
      PLN02443
      Location:5 → 651
      PLN02443; acyl-coenzyme A oxidase

    3. NM_007292.6 → NP_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
      A8K6X8, A8KAA0, B4DK61, F5GYQ8, Q12863, Q15067, Q15068, Q15101, Q16131, Q7Z3W5, Q9UD31
      UniProtKB/TrEMBL
      B4DU07
      Related
      ENSP00000301608.4, ENST00000301608.9
      Conserved Domains (1) summary
      cd01150
      Location:3 → 637
      AXO; Peroxisomal acyl-CoA oxidase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      75941507..75979166 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047436183.1 → XP_047292139.1  peroxisomal acyl-coenzyme A oxidase 1 isoform X2

    2. XM_047436182.1 → XP_047292138.1  peroxisomal acyl-coenzyme A oxidase 1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      76834659..76872295 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316337.1 → XP_054172312.1  peroxisomal acyl-coenzyme A oxidase 1 isoform X2

    2. XM_054316336.1 → XP_054172311.1  peroxisomal acyl-coenzyme A oxidase 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15067.3 GenPept UniProtKB/Swiss-Prot:Q15067

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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