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Aliases for ACOX1 Gene

Aliases for ACOX1 Gene

  • Acyl-CoA Oxidase 1, Palmitoyl 2 3
  • ACOX 3 4 6
  • SCOX 3 4 6
  • Acyl-Coenzyme A Oxidase 1, Palmitoyl 2 3
  • Straight-Chain Acyl-CoA Oxidase 3 4
  • Palmitoyl-CoA Oxidase 3 4
  • EC 1.3.3.6 4 63
  • AOX 3 4
  • Peroxisomal Acyl-Coenzyme A Oxidase 1 3
  • Peroxisomal Fatty Acyl-CoA Oxidase 3
  • Acyl-CoA Oxidase, Straight-Chain 3
  • PALMCOX 3

External Ids for ACOX1 Gene

Previous GeneCards Identifiers for ACOX1 Gene

  • GC17P073433
  • GC17M076968
  • GC17M074401
  • GC17M074538
  • GC17M071453
  • GC17M073937
  • GC17M069363

Summaries for ACOX1 Gene

Entrez Gene Summary for ACOX1 Gene

  • 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]

GeneCards Summary for ACOX1 Gene

ACOX1 (Acyl-CoA Oxidase 1, Palmitoyl) is a Protein Coding gene. Diseases associated with ACOX1 include peroxisomal acyl-coa oxidase deficiency and d-bifunctional protein deficiency. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include receptor binding and flavin adenine dinucleotide binding. An important paralog of this gene is ACOX3.

UniProtKB/Swiss-Prot for ACOX1 Gene

  • Catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs. Isoform 1 shows highest activity against medium-chain fatty acyl-CoAs and activity decreases with increasing chain length. Isoform 2 is active against a much broader range of substrates and shows activity towards very long-chain acyl-CoAs. Isoform 2 is twice as active as isoform 1 against 16-hydroxy-palmitoyl-CoA and is 25% more active against 1,16-hexadecanodioyl-CoA.

Gene Wiki entry for ACOX1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACOX1 Gene

Genomics for ACOX1 Gene

Regulatory Elements for ACOX1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ACOX1 Gene

Start:
75,941,507 bp from pter
End:
75,979,434 bp from pter
Size:
37,928 bases
Orientation:
Minus strand

Genomic View for ACOX1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ACOX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACOX1 Gene

Proteins for ACOX1 Gene

  • Protein details for ACOX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15067-ACOX1_HUMAN
    Recommended name:
    Peroxisomal acyl-coenzyme A oxidase 1
    Protein Accession:
    Q15067
    Secondary Accessions:
    • A8K6X8
    • A8KAA0
    • B4DK61
    • F5GYQ8
    • Q12863
    • Q15068
    • Q15101
    • Q16131
    • Q7Z3W5
    • Q9UD31

    Protein attributes for ACOX1 Gene

    Size:
    660 amino acids
    Molecular mass:
    74424 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Isoform 1 and isoform 2 can reverse the Acox1 null phenotype in mouse which is characterized by severe microvesicular hepatic steatosis, sustained activation of Ppara, spontaneous massive peroxisome proliferation and eventual development of hepatocellular carcinomas. Isoform 2 is more effective in reversal of the phenotype than isoform 1 (PubMed:20195242).
    SequenceCaution:
    • Sequence=CAD97622.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for ACOX1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACOX1 Gene

Proteomics data for ACOX1 Gene at MOPED

Post-translational modifications for ACOX1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains for ACOX1 Gene

Graphical View of Domain Structure for InterPro Entry

Q15067

UniProtKB/Swiss-Prot:

ACOX1_HUMAN :
  • Q15067
Family:
  • Belongs to the acyl-CoA oxidase family.
genes like me logo Genes that share domains with ACOX1: view

No data available for Gene Families for ACOX1 Gene

Function for ACOX1 Gene

Molecular function for ACOX1 Gene

GENATLAS Biochemistry: acyl-CoA oxidase,peroxisomal matrix,medium or long chain,catalyzing the first step of peroxisomal fatty acid beta-oxidation
UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=73 uM for palmitoyl-CoA (isoform 1) {ECO:0000269 PubMed:17603022}; KM=90 uM for palmitoyl-CoA (isoform 2) {ECO:0000269 PubMed:17603022}; pH dependence: Optimum pH is 8.5 for isoform 1 and 7.5-8.5 for isoform 2. {ECO:0000269 PubMed:17603022}; Temperature dependence: Optimum temperature for isoform 1 at pH 7.5 is 40 degrees Celsius with no activity at 50 degrees Celsius. Optimum temperature for isoform 2 at pH 7.5 is 47.5 degrees Celsius with 57% activity retained at 50 degrees Celsius. {ECO:0000269 PubMed:17603022};
UniProtKB/Swiss-Prot CatalyticActivity: Acyl-CoA + O(2) = trans-2,3-dehydroacyl-CoA + H(2)O(2)
UniProtKB/Swiss-Prot Function: Catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs. Isoform 1 shows highest activity against medium-chain fatty acyl-CoAs and activity decreases with increasing chain length. Isoform 2 is active against a much broader range of substrates and shows activity towards very long-chain acyl-CoAs. Isoform 2 is twice as active as isoform 1 against 16-hydroxy-palmitoyl-CoA and is 25% more active against 1,16-hexadecanodioyl-CoA.

Enzyme Numbers (IUBMB) for ACOX1 Gene

Gene Ontology (GO) - Molecular Function for ACOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003995 acyl-CoA dehydrogenase activity IEA --
GO:0003997 acyl-CoA oxidase activity TAS --
GO:0005102 receptor binding IPI 20178365
GO:0005504 fatty acid binding IEA --
GO:0016401 palmitoyl-CoA oxidase activity IEA --
genes like me logo Genes that share ontologies with ACOX1: view
genes like me logo Genes that share phenotypes with ACOX1: view

Animal Models for ACOX1 Gene

MGI Knock Outs for ACOX1:

Animal Model Products

CRISPR Products

miRNA for ACOX1 Gene

miRTarBase miRNAs that target ACOX1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ACOX1

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting and HOMER Transcription for ACOX1 Gene

Localization for ACOX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACOX1 Gene

Peroxisome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ACOX1 Gene COMPARTMENTS Subcellular localization image for ACOX1 gene
Compartment Confidence
peroxisome 5
mitochondrion 2
endoplasmic reticulum 1
nucleus 1

Gene Ontology (GO) - Cellular Components for ACOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm --
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with ACOX1: view

Pathways for ACOX1 Gene

genes like me logo Genes that share pathways with ACOX1: view

PCR Array Products

UniProtKB/Swiss-Prot Q15067-ACOX1_HUMAN

  • Pathway: Lipid metabolism; peroxisomal fatty acid beta-oxidation

Gene Ontology (GO) - Biological Process for ACOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000038 very long-chain fatty acid metabolic process IMP 18536048
GO:0006091 generation of precursor metabolites and energy IMP 7876265
GO:0006629 lipid metabolic process IDA 8117268
GO:0006631 fatty acid metabolic process --
GO:0006635 fatty acid beta-oxidation --
genes like me logo Genes that share ontologies with ACOX1: view

Compounds for ACOX1 Gene

(48) HMDB Compounds for ACOX1 Gene

Compound Synonyms Cas Number PubMed IDs
(2E)-Decenoyl-CoA
  • (E)-S-2-decenoate Coenzyme A
10018-95-8
(2E)-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
1066-12-2
(2E)-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-CoA
4460-95-1
(2E)-Octenoyl-CoA
  • (E)-S-2-octenoate Coenzyme A
10018-94-7
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-Coenzyme A
38795-33-4

(2) Drugbank Compounds for ACOX1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
(3R)-3-HYDROXYDODECANOIC ACID
target
Flavin-Adenine Dinucleotide
146-14-5 target

(38) Novoseek inferred chemical compound relationships for ACOX1 Gene

Compound -log(P) Hits PubMed IDs
acyl-coa 90.7 55
palmitoyl coa 78.4 5
ciprofibrate 78 2
salicylhydroxamic acid 70.1 3
ubiquinol 63.3 5
genes like me logo Genes that share compounds with ACOX1: view

Transcripts for ACOX1 Gene

Unigene Clusters for ACOX1 Gene

Acyl-CoA oxidase 1, palmitoyl:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ACOX1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACOX1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b · 15c ^ 16
SP1: - -
SP2: - -
SP3: - - - -
SP4: - -
SP5: - -

Relevant External Links for ACOX1 Gene

GeneLoc Exon Structure for
ACOX1
ECgene alternative splicing isoforms for
ACOX1

Expression for ACOX1 Gene

mRNA expression in normal human tissues for ACOX1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ACOX1 Gene

SOURCE GeneReport for Unigene cluster for ACOX1 Gene Hs.464137

mRNA Expression by UniProt/SwissProt for ACOX1 Gene

Q15067-ACOX1_HUMAN
Tissue specificity: Widely expressed with highest levels of isoform 1 and isoform 2 detected in testis. Isoform 1 is expressed at higher levels than isoform 2 in liver and kidney while isoform 2 levels are higher in brain, lung, muscle, white adipose tissue and testis. Levels are almost equal in heart.
genes like me logo Genes that share expressions with ACOX1: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for ACOX1 Gene

Orthologs for ACOX1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ACOX1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACOX1 35
  • 99.55 (n)
  • 99.7 (a)
ACOX1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ACOX1 35
  • 89.65 (n)
  • 91.97 (a)
ACOX1 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACOX1 35
  • 91.16 (n)
  • 93.33 (a)
ACOX1 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Acox1 35
  • 81.06 (n)
  • 84.39 (a)
Acox1 16
Acox1 36
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACOX1 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 83 (a)
OneToMany
-- 36
  • 86 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Acox1 35
  • 85.56 (n)
  • 88.64 (a)
chicken
(Gallus gallus)
Aves ACOX1 35
  • 73.43 (n)
  • 77.27 (a)
ACOX1 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACOX1 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acox1 35
  • 66.26 (n)
  • 72.12 (a)
zebrafish
(Danio rerio)
Actinopterygii acox1 35
  • 67.02 (n)
  • 69.65 (a)
acox1 36
  • 70 (a)
OneToOne
wufb59h12 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011798 35
  • 51.82 (n)
  • 43.77 (a)
fruit fly
(Drosophila melanogaster)
Insecta Acox57D-d 36
  • 36 (a)
ManyToMany
Acox57D-p 36
  • 37 (a)
ManyToMany
CG4586 36
  • 38 (a)
ManyToMany
CG5009 35
  • 52.54 (n)
  • 44.72 (a)
CG5009 36
  • 43 (a)
ManyToMany
CG4586 37
  • 38 (a)
Acox57D-p 37
  • 38 (a)
BcDNA:GH07485 37
  • 43 (a)
Acox57D-d 37
  • 37 (a)
worm
(Caenorhabditis elegans)
Secernentea acox-1 35
  • 52.38 (n)
  • 45.03 (a)
acox-1 36
  • 42 (a)
ManyToMany
C48B4.1 36
  • 38 (a)
ManyToMany
F08A8.2 36
  • 42 (a)
ManyToMany
F08A8.3 36
  • 42 (a)
ManyToMany
F08A8.4 36
  • 42 (a)
ManyToMany
F59F4.1 36
  • 42 (a)
ManyToMany
F08A8.4 37
  • 42 (a)
F59F4.1 37
  • 42 (a)
F08A8.3 37
  • 42 (a)
F08A8.1 37
  • 43 (a)
C48B4.1 37
  • 38 (a)
F25C8.1 37
  • 46 (a)
F08A8.2 37
  • 40 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes POX1 36
  • 26 (a)
OneToMany
POX1 38
soybean
(Glycine max)
eudicotyledons Gma.8460 35
thale cress
(Arabidopsis thaliana)
eudicotyledons ACX1 35
  • 51.84 (n)
  • 45.11 (a)
corn
(Zea mays)
Liliopsida Zm.4993 35
rice
(Oryza sativa)
Liliopsida Os.9192 35
Os06g0103500 35
  • 52.75 (n)
  • 44.24 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.27205 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4108 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11092 36
  • 43 (a)
OneToMany
CSA.6819 36
  • 54 (a)
OneToMany
Species with no ortholog for ACOX1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for ACOX1 Gene

ENSEMBL:
Gene Tree for ACOX1 (if available)
TreeFam:
Gene Tree for ACOX1 (if available)

Paralogs for ACOX1 Gene

Paralogs for ACOX1 Gene

Selected SIMAP similar genes for ACOX1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with ACOX1: view

Variants for ACOX1 Gene

Sequence variations from dbSNP and Humsavar for ACOX1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs3682 -- 75,946,069(+) TTAGC(A/G)ATCCT utr-variant-3-prime
rs12430 -- 75,945,874(-) CCAGA(C/T)GTAGC utr-variant-3-prime
rs1057921 -- 75,946,094(-) GTGTA(A/G)TTAGG utr-variant-3-prime
rs1135241 -- 75,974,963(-) acgcc(A/G)ttctc intron-variant
rs1135245 -- 75,974,832(-) GATGG(C/T)CTCGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ACOX1 Gene

Variant ID Type Subtype PubMed ID
dgv3264n71 CNV Loss 21882294
dgv3267n71 CNV Loss 21882294
nsv833545 CNV Gain 17160897
nsv908821 CNV Loss 21882294
esv2671149 CNV Deletion 23128226
nsv908824 CNV Loss 21882294
nsv908825 CNV Loss 21882294

Relevant External Links for ACOX1 Gene

HapMap Linkage Disequilibrium report
ACOX1
Human Gene Mutation Database (HGMD)
ACOX1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACOX1 Gene

Disorders for ACOX1 Gene

(1) OMIM Diseases for ACOX1 Gene (609751)

UniProtKB/Swiss-Prot

ACOX1_HUMAN
  • Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470]: A peroxisomal single-enzyme disorder of fatty acid beta-oxidation, resulting in clinical manifestations that remind neonatal adrenoleukodystrophy. Clinical features include mental retardation, leukodystrophy, seizures, mild hepatomegaly, hearing deficit. Pseudo-NALD is characterized by increased plasma levels of very-long chain fatty acids, due to decreased or absent peroxisome acyl-CoA oxidase activity. Peroxisomes are intact and functioning. {ECO:0000269 PubMed:11815777, ECO:0000269 PubMed:17458872, ECO:0000269 PubMed:8040306}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(6) Novoseek inferred disease relationships for ACOX1 Gene

Disease -log(P) Hits PubMed IDs
rhizomelic chondrodysplasia punctata, type 1 85.2 2
d-bifunctional protein deficiency 84.6 2
oxidase deficiency 75.1 2
zellweger syndrome 73.2 3
adrenoleukodystrophy 56.8 3

Relevant External Links for ACOX1

Genetic Association Database (GAD)
ACOX1
Human Genome Epidemiology (HuGE) Navigator
ACOX1
genes like me logo Genes that share disorders with ACOX1: view

Publications for ACOX1 Gene

  1. Isolation of the human peroxisomal acyl-CoA oxidase gene: organization, promoter analysis, and chromosomal localization. (PMID: 8159712) Varanasi U. … Reddy J.K. (Proc. Natl. Acad. Sci. U.S.A. 1994) 2 3 4 23
  2. Overexpression and characterization of the human peroxisomal acyl-CoA oxidase in insect cells. (PMID: 7876265) Chu R. … Reddy J.K. (J. Biol. Chem. 1995) 3 4 23
  3. Clinical, biochemical, and mutational spectrum of peroxisomal acyl- coenzyme A oxidase deficiency. (PMID: 17458872) Ferdinandusse S. … Waterham H.R. (Hum. Mutat. 2007) 3 4 23
  4. Biochemical characterization of two functional human liver acyl-CoA oxidase isoforms 1a and 1b encoded by a single gene. (PMID: 17603022) Oaxaca-Castillo D. … Cherkaoui-Malki M. (Biochem. Biophys. Res. Commun. 2007) 3 4 23
  5. Reversal of mouse Acyl-CoA oxidase 1 (ACOX1) null phenotype by human ACOX1b isoform. (PMID: 20195242) Vluggens A. … Cherkaoui-Malki M. (Lab. Invest. 2010) 3 4 23

Products for ACOX1 Gene

Sources for ACOX1 Gene

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