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ACOX3 acyl-CoA oxidase 3, pristanoyl [ Homo sapiens (human) ]

Gene ID: 8310, updated on 3-Apr-2024

Summary

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Official Symbol
ACOX3provided by HGNC
Official Full Name
acyl-CoA oxidase 3, pristanoylprovided by HGNC
Primary source
HGNC:HGNC:121
See related
Ensembl:ENSG00000087008 MIM:603402; AllianceGenome:HGNC:121
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Acyl-Coenzyme A oxidase 3 also know as pristanoyl -CoA oxidase (ACOX3)is involved in the desaturation of 2-methyl branched fatty acids in peroxisomes. Unlike the rat homolog, the human gene is expressed in very low amounts in liver such that its mRNA was undetectable by routine Northern-blot analysis or its product by immunoblotting or by enzyme activity measurements. However the human cDNA encoding a 700 amino acid protein with a peroxisomal targeting C-terminal tripeptide S-K-L was isolated and is thought to be expressed under special conditions such as specific developmental stages or in a tissue specific manner in tissues that have not yet been examined. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in esophagus (RPKM 3.5), skin (RPKM 3.1) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
4p16.1
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (8355305..8440723, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (8337453..8420469, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (8368009..8442450, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8325636-8326136 Neighboring gene long intergenic non-protein coding RNA 2517 Neighboring gene uncharacterized LOC124900658 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8355016-8355566 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:8376338-8376838 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:8377985-8378502 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8383209-8383808 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8383809-8384407 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8394357-8395162 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8395893-8396860 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8396861-8397826 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:8397827-8398794 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:8405151-8405348 Neighboring gene RNA, 5S ribosomal pseudogene 152 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21292 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15263 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21293 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21294 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:8442396-8443129 Neighboring gene tRNA methyltransferase 44 homolog Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21296 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8472992-8473640 Neighboring gene Sharpr-MPRA regulatory region 4448 Neighboring gene NANOG hESC enhancer GRCh37_chr4:8482448-8483174 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:8492043-8492759 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:8492867-8493385 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8500378-8500878 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8505909-8506796 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8512723-8513222 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8524675-8525176 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21297 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21298 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21299 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21300 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8546250-8546937 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:8561698-8562412 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:8576398-8576952 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:8582279-8582940 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:8588835-8589335 Neighboring gene G protein-coupled receptor 78

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
  • 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. ACOX3 Dysfunction as a Potential Cause of Recurrent Spontaneous Vasospasm of Internal Carotid Artery. Kim JT, et al. Transl Stroke Res, 2020 Oct. PMID 31975215
  2. Evidence for the existence of a pristanoyl-CoA oxidase gene in man. Vanhooren JC, et al. Biochem J, 1997 Aug 1. PMID 9271077, Free PMC Article
  3. The CoA esters of 2-methyl-branched chain fatty acids and of the bile acid intermediates di- and trihydroxycoprostanic acids are oxidized by one single peroxisomal branched chain acyl-CoA oxidase in human liver and kidney. Vanhove GF, et al. J Biol Chem, 1993 May 15. PMID 8387517
  4. Peroxisomal branched chain fatty acid beta-oxidation pathway is upregulated in prostate cancer. Zha S, et al. Prostate, 2005 Jun 1. PMID 15599942
  5. Mammalian peroxisomal acyl-CoA oxidases. III. Molecular characterization of human branched chain fatty acyl-CoA oxidase. Baumgart E, et al. Ann N Y Acad Sci, 1996 Dec 27. PMID 8993592

See all (27) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. ACOX3 Dysfunction as a Potential Cause of Recurrent Spontaneous Vasospasm of Internal Carotid Artery.
    Title: ACOX3 Dysfunction as a Potential Cause of Recurrent Spontaneous Vasospasm of Internal Carotid Artery.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  3. ACOX3, which is expressed at extremely low level in other human organs studied including the liver, might contribute significantly to peroxisomal branched chain fatty acid beta-oxidation in human prostate tissue and some prostate cancer cell lines
    Title: Peroxisomal branched chain fatty acid beta-oxidation pathway is upregulated in prostate cancer.
Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
Association between single nucleotide polymorphism-genotype and outcome of patients with chronic lymphocytic leukemia in a randomized chemotherapy trial.
EBI GWAS Catalog

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables FAD binding IEA
Inferred from Electronic Annotation
more info
  
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 pristanoyl-CoA oxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
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 IEA
Inferred from Electronic Annotation
more info
  
involved_in lipid homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
  
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
  
is_active_in peroxisome IBA
Inferred from Biological aspect of Ancestor
more info
  
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 3
Names
BRCACox
acyl-Coenzyme A oxidase 3, pristanoyl
branched-chain acyl-CoA oxidase
pristanoyl-CoA oxidase
NP_001095137.1
NP_001362712.1
NP_001362713.1
NP_001362714.1
NP_001362715.1
NP_001362716.1
NP_001362717.1
NP_001362718.1
NP_001362719.1
NP_003492.2
XP_011511867.1
XP_011511868.1
XP_024310005.1
XP_047272185.1
XP_047272186.1
XP_047272187.1
XP_047272189.1
XP_047272190.1
XP_054206919.1
XP_054206920.1
XP_054206921.1
XP_054206922.1
XP_054206923.1
XP_054206924.1
XP_054206925.1

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.

mRNA and Protein(s)

  1. NM_001101667.2 → NP_001095137.1  peroxisomal acyl-coenzyme A oxidase 3 isoform b

    See identical proteins and their annotated locations for NP_001095137.1

    Status: VALIDATED

    Source sequence(s)
    AC104825
    Consensus CDS
    CCDS47017.1
    UniProtKB/TrEMBL
    B2R856
    Related
    ENSP00000413994.2, ENST00000413009.6
    Conserved Domains (1) summary
    cd01150
    Location:19 → 609
    AXO; Peroxisomal acyl-CoA oxidase

  2. NM_001375783.1 → NP_001362712.1  peroxisomal acyl-coenzyme A oxidase 3 isoform a

    Status: VALIDATED

    Source sequence(s)
    AC104825
    Consensus CDS
    CCDS3401.1
    UniProtKB/Swiss-Prot
    O15254, Q96AJ8
    UniProtKB/TrEMBL
    B2R856
    Related
    ENSP00000421625.1, ENST00000503233.5
    Conserved Domains (1) summary
    cd01150
    Location:19 → 672
    AXO; Peroxisomal acyl-CoA oxidase

  3. NM_001375784.1 → NP_001362713.1  peroxisomal acyl-coenzyme A oxidase 3 isoform c

    Status: VALIDATED

    Source sequence(s)
    AC104825
    UniProtKB/TrEMBL
    B2R856
    Conserved Domains (1) summary
    cd01150
    Location:19 → 648
    AXO; Peroxisomal acyl-CoA oxidase

  4. NM_001375785.1 → NP_001362714.1  peroxisomal acyl-coenzyme A oxidase 3 isoform d

    Status: VALIDATED

    Source sequence(s)
    AC104825
    UniProtKB/TrEMBL
    B2R856
    Conserved Domains (1) summary
    cd01150
    Location:19 → 636
    AXO; Peroxisomal acyl-CoA oxidase

  5. NM_001375786.1 → NP_001362715.1  peroxisomal acyl-coenzyme A oxidase 3 isoform d

    Status: VALIDATED

    Source sequence(s)
    AC104825
    UniProtKB/TrEMBL
    B2R856
    Conserved Domains (1) summary
    cd01150
    Location:19 → 636
    AXO; Peroxisomal acyl-CoA oxidase

  6. NM_001375787.1 → NP_001362716.1  peroxisomal acyl-coenzyme A oxidase 3 isoform e

    Status: VALIDATED

    Source sequence(s)
    AC104825
    UniProtKB/TrEMBL
    B2R856
    Conserved Domains (1) summary
    cd01150
    Location:19 → 661
    AXO; Peroxisomal acyl-CoA oxidase

  7. NM_001375788.1 → NP_001362717.1  peroxisomal acyl-coenzyme A oxidase 3 isoform b

    Status: VALIDATED

    Source sequence(s)
    AC104825
    Consensus CDS
    CCDS47017.1
    UniProtKB/TrEMBL
    B2R856
    Conserved Domains (1) summary
    cd01150
    Location:19 → 609
    AXO; Peroxisomal acyl-CoA oxidase

  8. NM_001375789.1 → NP_001362718.1  peroxisomal acyl-coenzyme A oxidase 3 isoform f

    Status: VALIDATED

    Source sequence(s)
    AC104825
    UniProtKB/TrEMBL
    B2R856
    Conserved Domains (1) summary
    cd01150
    Location:4 → 577
    AXO; Peroxisomal acyl-CoA oxidase

  9. NM_001375790.1 → NP_001362719.1  peroxisomal acyl-coenzyme A oxidase 3 isoform g

    Status: VALIDATED

    Source sequence(s)
    AC104825
    UniProtKB/TrEMBL
    B2R856
    Conserved Domains (1) summary
    cl09933
    Location:19 → 551
    ACAD; Acyl-CoA dehydrogenase

  10. NM_003501.3 → NP_003492.2  peroxisomal acyl-coenzyme A oxidase 3 isoform a

    See identical proteins and their annotated locations for NP_003492.2

    Status: VALIDATED

    Source sequence(s)
    BC017053, CA306669, DA949869, Y11411
    Consensus CDS
    CCDS3401.1
    UniProtKB/Swiss-Prot
    O15254, Q96AJ8
    UniProtKB/TrEMBL
    B2R856
    Related
    ENSP00000348775.4, ENST00000356406.10
    Conserved Domains (1) summary
    cd01150
    Location:19 → 672
    AXO; Peroxisomal acyl-CoA oxidase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    8355305..8440723 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047416231.1 → XP_047272187.1  peroxisomal acyl-coenzyme A oxidase 3 isoform X2

  2. XM_047416230.1 → XP_047272186.1  peroxisomal acyl-coenzyme A oxidase 3 isoform X1

    UniProtKB/Swiss-Prot
    O15254, Q96AJ8

  3. XM_047416229.1 → XP_047272185.1  peroxisomal acyl-coenzyme A oxidase 3 isoform X1

    UniProtKB/Swiss-Prot
    O15254, Q96AJ8

  4. XM_011513565.3 → XP_011511867.1  peroxisomal acyl-coenzyme A oxidase 3 isoform X1

    See identical proteins and their annotated locations for XP_011511867.1

    UniProtKB/Swiss-Prot
    O15254, Q96AJ8
    UniProtKB/TrEMBL
    B2R856
    Conserved Domains (1) summary
    cd01150
    Location:19 → 672
    AXO; Peroxisomal acyl-CoA oxidase

  5. XM_011513566.2 → XP_011511868.1  peroxisomal acyl-coenzyme A oxidase 3 isoform X2

    UniProtKB/TrEMBL
    B2R856
    Conserved Domains (1) summary
    cd01150
    Location:19 → 591
    AXO; Peroxisomal acyl-CoA oxidase

  6. XM_047416233.1 → XP_047272189.1  peroxisomal acyl-coenzyme A oxidase 3 isoform X3

  7. XM_047416234.1 → XP_047272190.1  peroxisomal acyl-coenzyme A oxidase 3 isoform X4

  8. XM_024454237.2 → XP_024310005.1  peroxisomal acyl-coenzyme A oxidase 3 isoform X3

    Conserved Domains (1) summary
    cl09933
    Location:19 → 476
    ACAD; Acyl-CoA dehydrogenase

RNA

  1. XR_007057969.1 RNA Sequence

  2. XR_007057970.1 RNA Sequence

  3. XR_007057968.1 RNA Sequence

  4. XR_007057971.1 RNA Sequence

  5. XR_007057972.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    8337453..8420469 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054350950.1 → XP_054206925.1  peroxisomal acyl-coenzyme A oxidase 3 isoform X2

  2. XM_054350948.1 → XP_054206923.1  peroxisomal acyl-coenzyme A oxidase 3 isoform X1

    UniProtKB/Swiss-Prot
    O15254, Q96AJ8

  3. XM_054350945.1 → XP_054206920.1  peroxisomal acyl-coenzyme A oxidase 3 isoform X1

    UniProtKB/Swiss-Prot
    O15254, Q96AJ8

  4. XM_054350944.1 → XP_054206919.1  peroxisomal acyl-coenzyme A oxidase 3 isoform X1

    UniProtKB/Swiss-Prot
    O15254, Q96AJ8

  5. XM_054350946.1 → XP_054206921.1  peroxisomal acyl-coenzyme A oxidase 3 isoform X1

    UniProtKB/Swiss-Prot
    O15254, Q96AJ8

  6. XM_054350947.1 → XP_054206922.1  peroxisomal acyl-coenzyme A oxidase 3 isoform X1

    UniProtKB/Swiss-Prot
    O15254, Q96AJ8

  7. XM_054350949.1 → XP_054206924.1  peroxisomal acyl-coenzyme A oxidase 3 isoform X2

RNA

  1. XR_008487035.1 RNA Sequence

  2. XR_008487036.1 RNA Sequence

  3. XR_008487034.1 RNA Sequence

  4. XR_008487037.1 RNA Sequence

  5. XR_008487040.1 RNA Sequence

  6. XR_008487041.1 RNA Sequence

  7. XR_008487039.1 RNA Sequence

  8. XR_008487038.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O15254.2 GenPept UniProtKB/Swiss-Prot:O15254

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