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

Gene ID: 51, updated on 16-Feb-2020

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
109.20191205 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 Functions

What's a GeneRIF?

Pathways from PubChem

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
 
membrane HDA PubMed 
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 

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
    5198..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 Updated Annotation Release 109.20191205

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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