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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
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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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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
Compare labs
Mitchell syndrome
MedGen: C5394554 OMIM: 618960 GeneReviews: Not available
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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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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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