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

    Gene ID: 8310, updated on 27-Nov-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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    See ACOX3 in Genome Data Viewer
    Location:
    4p16.1
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (8355305..8440723, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (8337453..8420469, complement)
    RS_2024_09 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. 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
    2. 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
    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 (28) 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)

    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
    		  
    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_2024_08

    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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