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

Gene ID: 8310, updated on 26-May-2016
Official Symbol
ACOX3provided by HGNC
Official Full Name
acyl-CoA oxidase 3, pristanoylprovided by HGNC
Primary source
HGNC:HGNC:121
See related
Ensembl:ENSG00000087008 HPRD:04552; MIM:603402; Vega:OTTHUMG00000090509
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]
Orthologs
Location:
4p15.3
Exon count:
22
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 4 NC_000004.12 (8366263..8440725, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (8368009..8442452, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene HtrA serine peptidase 3 Neighboring gene uncharacterized LOC105374374 Neighboring gene RNA, 5S ribosomal pseudogene 152 Neighboring gene uncharacterized LOC105374376 Neighboring gene tRNA methyltransferase 44 homolog (S. cerevisiae) Neighboring gene uncharacterized LOC105374375 Neighboring gene G protein-coupled receptor 78

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Association between single nucleotide polymorphism-genotype and outcome of patients with chronic lymphocytic leukemia in a randomized chemotherapy trial.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
acyl-CoA dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
electron carrier activity IBA
Inferred from Biological aspect of Ancestor
more info
 
fatty-acyl-CoA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
flavin adenine dinucleotide binding IBA
Inferred from Biological aspect of Ancestor
more info
 
oxidoreductase activity, acting on the CH-CH group of donors, with a flavin as acceptor IBA
Inferred from Biological aspect of Ancestor
more info
 
pristanoyl-CoA oxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
pristanoyl-CoA oxidase activity TAS
Traceable Author Statement
more info
 
receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
fatty acid beta-oxidation using acyl-CoA dehydrogenase IBA
Inferred from Biological aspect of Ancestor
more info
 
fatty acid beta-oxidation using acyl-CoA oxidase IEA
Inferred from Electronic Annotation
more info
 
fatty acid beta-oxidation using acyl-CoA oxidase TAS
Traceable Author Statement
more info
 
lipid homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
peroxisomal matrix TAS
Traceable Author Statement
more info
 
peroxisome IDA
Inferred from Direct Assay
more info
PubMed 
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_003492.2

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_001101667.1NP_001095137.1  peroxisomal acyl-coenzyme A oxidase 3 isoform b

    See identical proteins and their annotated locations for NP_001095137.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an exon in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (b) is shorter compared to isoform a.
    Source sequence(s)
    BC017053, CA306669, DA949869
    Consensus CDS
    CCDS47017.1
    UniProtKB/Swiss-Prot
    O15254
    Related
    ENSP00000413994, OTTHUMP00000217516, ENST00000413009, OTTHUMT00000359216
    Conserved Domains (1) summary
    cd01150
    Location:19609
    AXO; Peroxisomal acyl-CoA oxidase
  2. NM_003501.2NP_003492.2  peroxisomal acyl-coenzyme A oxidase 3 isoform a

    See identical proteins and their annotated locations for NP_003492.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    BC017053, CA306669, DA949869, Y11411
    Consensus CDS
    CCDS3401.1
    UniProtKB/Swiss-Prot
    O15254
    Related
    ENSP00000348775, OTTHUMP00000115592, ENST00000356406, OTTHUMT00000206997
    Conserved Domains (2) summary
    cd01150
    Location:19672
    AXO; Peroxisomal acyl-CoA oxidase
    PLN02312
    Location:28655
    PLN02312; acyl-CoA oxidase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p2 Primary Assembly

    Range
    8366263..8440725 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011513566.1XP_011511868.1  

    Conserved Domains (1) summary
    cd01150
    Location:19591
    AXO; Peroxisomal acyl-CoA oxidase
  2. XM_005248013.3XP_005248070.1  

    See identical proteins and their annotated locations for XP_005248070.1

    UniProtKB/Swiss-Prot
    O15254
    Conserved Domains (1) summary
    cd01150
    Location:19609
    AXO; Peroxisomal acyl-CoA oxidase
  3. XM_005248012.3XP_005248069.1  

    Conserved Domains (1) summary
    cd01150
    Location:19636
    AXO; Peroxisomal acyl-CoA oxidase
  4. XM_005248011.3XP_005248068.1  

    See identical proteins and their annotated locations for XP_005248068.1

    UniProtKB/Swiss-Prot
    O15254
    Related
    ENSP00000421625, OTTHUMP00000219320, ENST00000503233, OTTHUMT00000363017
    Conserved Domains (2) summary
    cd01150
    Location:19672
    AXO; Peroxisomal acyl-CoA oxidase
    PLN02312
    Location:28655
    PLN02312; acyl-CoA oxidase
  5. XM_011513565.1XP_011511867.1  

    See identical proteins and their annotated locations for XP_011511867.1

    UniProtKB/Swiss-Prot
    O15254
    Conserved Domains (2) summary
    cd01150
    Location:19672
    AXO; Peroxisomal acyl-CoA oxidase
    PLN02312
    Location:28655
    PLN02312; acyl-CoA oxidase
  6. XM_011513567.1XP_011511869.1  

    Conserved Domains (1) summary
    cl09933
    Location:19476
    ACAD; Acyl-CoA dehydrogenase

RNA

  1. XR_925000.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018915.2 Alternate CHM1_1.1

    Range
    8366366..8440788 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)