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

Gene ID: 8310, updated on 27-Nov-2024

Summary

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
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Genomic context

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

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

Phenotypes

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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_001101667.2NP_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:19609
    AXO; Peroxisomal acyl-CoA oxidase
  2. NM_001375783.1NP_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:19672
    AXO; Peroxisomal acyl-CoA oxidase
  3. NM_001375784.1NP_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:19648
    AXO; Peroxisomal acyl-CoA oxidase
  4. NM_001375785.1NP_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:19636
    AXO; Peroxisomal acyl-CoA oxidase
  5. NM_001375786.1NP_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:19636
    AXO; Peroxisomal acyl-CoA oxidase
  6. NM_001375787.1NP_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:19661
    AXO; Peroxisomal acyl-CoA oxidase
  7. NM_001375788.1NP_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:19609
    AXO; Peroxisomal acyl-CoA oxidase
  8. NM_001375789.1NP_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:4577
    AXO; Peroxisomal acyl-CoA oxidase
  9. NM_001375790.1NP_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:19551
    ACAD; Acyl-CoA dehydrogenase
  10. NM_003501.3NP_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:19672
    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_047416231.1XP_047272187.1  peroxisomal acyl-coenzyme A oxidase 3 isoform X2

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

    UniProtKB/Swiss-Prot
    O15254, Q96AJ8
  3. XM_047416229.1XP_047272185.1  peroxisomal acyl-coenzyme A oxidase 3 isoform X1

    UniProtKB/Swiss-Prot
    O15254, Q96AJ8
  4. XM_011513565.3XP_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:19672
    AXO; Peroxisomal acyl-CoA oxidase
  5. XM_011513566.2XP_011511868.1  peroxisomal acyl-coenzyme A oxidase 3 isoform X2

    UniProtKB/TrEMBL
    B2R856
    Conserved Domains (1) summary
    cd01150
    Location:19591
    AXO; Peroxisomal acyl-CoA oxidase
  6. XM_047416233.1XP_047272189.1  peroxisomal acyl-coenzyme A oxidase 3 isoform X3

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

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

    Conserved Domains (1) summary
    cl09933
    Location:19476
    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_054350950.1XP_054206925.1  peroxisomal acyl-coenzyme A oxidase 3 isoform X2

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

    UniProtKB/Swiss-Prot
    O15254, Q96AJ8
  3. XM_054350945.1XP_054206920.1  peroxisomal acyl-coenzyme A oxidase 3 isoform X1

    UniProtKB/Swiss-Prot
    O15254, Q96AJ8
  4. XM_054350944.1XP_054206919.1  peroxisomal acyl-coenzyme A oxidase 3 isoform X1

    UniProtKB/Swiss-Prot
    O15254, Q96AJ8
  5. XM_054350946.1XP_054206921.1  peroxisomal acyl-coenzyme A oxidase 3 isoform X1

    UniProtKB/Swiss-Prot
    O15254, Q96AJ8
  6. XM_054350947.1XP_054206922.1  peroxisomal acyl-coenzyme A oxidase 3 isoform X1

    UniProtKB/Swiss-Prot
    O15254, Q96AJ8
  7. XM_054350949.1XP_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