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... See more...

Aliases for ACOX1 Gene

Aliases for ACOX1 Gene

  • Acyl-CoA Oxidase 1 2 3 5
  • Palmitoyl-CoA Oxidase 2 3 4
  • Peroxisomal Acyl-Coenzyme A Oxidase 1 3 4
  • Acyl-Coenzyme A Oxidase 1, Palmitoyl 2 3
  • Straight-Chain Acyl-CoA Oxidase 3 4
  • Acyl-CoA Oxidase 1, Palmitoyl 2 3
  • EC 1.3.3.6 4 51
  • PALMCOX 2 3
  • ACOX 3 4
  • SCOX 3 4
  • AOX 3 4
  • Peroxisomal Fatty Acyl-CoA Oxidase 3
  • Acyl-CoA Oxidase, Straight-Chain 3
  • ACOX1 5

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) is a Protein Coding gene. Diseases associated with ACOX1 include Peroxisomal Acyl-Coa Oxidase Deficiency and Adrenoleukodystrophy. Among its related pathways are Linoleic acid metabolism and beta-Alanine metabolism (KEGG). Gene Ontology (GO) annotations related to this gene include signaling receptor binding and protein N-terminus binding. An important paralog of this gene is ACOX2.

UniProtKB/Swiss-Prot Summary 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. 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACOX1 Gene

Genomics for ACOX1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ACOX1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J075975 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 612.3 -1.0 -995 10.1 ARHGAP35 SP1 HNRNPL CREB1 GATAD2A ATF7 PRDM10 REST ZNF629 TFE3 CDK3 ACOX1 TEN1 TEN1-CDK3 lnc-EVPL-3 SRSF2 NT5C NUP85 UNK TRIM65
GH17J075995 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 600.4 -19.0 -18990 6 HNRNPL GATAD2A CTCF ATF7 PRDM10 REST TFE3 RCOR2 PRDM1 RELA CDK3 RF00017-2557 ACOX1 TEN1 UNK NUP85 GGA3 SRSF2 NT5C ENSG00000266980
GH17J075969 Enhancer 1.1 Ensembl ENCODE 17.5 +8.8 8757 3.7 PRDM10 LEF1 IKZF1 ETV6 JUND DDX20 MTA2 MTA1 REST ZNF24 ACOX1 TEN1 FBF1 TSEN54 ARMC7 CDK3 lnc-EVPL-1 lnc-FBF1-2 lnc-SRP68-1
GH17J075852 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 6.4 +122.7 122703 7.3 SP1 HNRNPL CREB1 GATAD2A CTCF PRDM10 ZNF629 TFE3 SIX5 LEF1 WBP2 TRIM65 SRSF2 UNK NUP85 CDK3 NT5C ENSG00000267342 FBF1 METTL23
GH17J076002 Enhancer 1.3 Ensembl ENCODE dbSUPER 9.8 -25.3 -25267 3.5 HNRNPL GATAD2A CTCF REST TFE3 SOX13 IKZF1 NFKBIZ RCOR2 ZNF143 TEN1 ACOX1 CDK3 TRIM65 RF00017-2558 EVPL TEN1-CDK3 lnc-SRP68-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACOX1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACOX1

Top Transcription factor binding sites by QIAGEN in the ACOX1 gene promoter:
  • AML1a
  • CRE-BP1
  • Egr-2
  • En-1
  • GATA-1
  • Gfi-1
  • PPAR-alpha
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for ACOX1 Gene

Genomic Locations for ACOX1 Gene
chr17:75,941,507-75,979,199
(GRCh38/hg38)
Size:
37,693 bases
Orientation:
Minus strand
chr17:73,937,588-73,975,515
(GRCh37/hg19)
Size:
37,928 bases
Orientation:
Minus strand

Genomic View for ACOX1 Gene

Genes around ACOX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACOX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    • Homodimer (By similarity). Interacts with LONP2 (PubMed:18281296).
    SequenceCaution:
    • Sequence=CAD97622.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
    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).

    Alternative splice isoforms for ACOX1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACOX1 Gene

Selected DME Specific Peptides for ACOX1 Gene

Q15067:
  • VSYLNDLPSQRIQPQQVAVWPT
  • NKLTYGTMVF
  • CTFEGENTVMMLQTARFLMK
  • LTEAYKLRAARLVEIAAKNLQ
  • ACGGHGYSHCSG
  • DPDFQHE
  • RYSAVRHQSEI
  • QTQQYKLFPLLATAYAFQFVGAYMKETY
  • GLETTAT
  • TRRRREIEN
  • DNGYLKMDN

Post-translational modifications for ACOX1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Protein Products

  • Abcam proteins for ACOX1

Domains & Families for ACOX1 Gene

Gene Families for ACOX1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for ACOX1 Gene

GenScript: Design optimal peptide antigens:
  • Acyl-coenzyme A oxidase (A8K6X8_HUMAN)
  • Straight-chain acyl-CoA oxidase (ACOX1_HUMAN)
  • Acyl-coenzyme A oxidase (F5GYQ8_HUMAN)
  • Acyl-coenzyme A oxidase (F5H0M0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q15067

UniProtKB/Swiss-Prot:

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

Function for ACOX1 Gene

Molecular function for ACOX1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs.
UniProtKB/Swiss-Prot Function:
[Isoform 1]: Shows highest activity against medium-chain fatty acyl-CoAs and activity decreases with increasing chain length.
UniProtKB/Swiss-Prot Function:
[Isoform 2]: Is active against a much broader range of substrates and shows activity towards very long-chain acyl-CoAs. Is twice as active as isoform 1 against 16-hydroxy-palmitoyl-CoA and is 25% more active against 1,16-hexadecanodioyl-CoA.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 2,3-saturated acyl-CoA + O2 = a (2E)-enoyl-CoA + H2O2; Xref=Rhea:RHEA:38959, ChEBI:CHEBI:15379, ChEBI:CHEBI:16240, ChEBI:CHEBI:58856, ChEBI:CHEBI:65111; EC=1.3.3.6; Evidence={ECO:0000269|PubMed:17603022};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=hexadecanoyl-CoA + O2 = (2E)-hexadecenoyl-CoA + H2O2; Xref=Rhea:RHEA:40167, ChEBI:CHEBI:15379, ChEBI:CHEBI:16240, ChEBI:CHEBI:57379, ChEBI:CHEBI:61526; Evidence={ECO:0000269|PubMed:17603022};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=dodecanoyl-CoA + O2 = (2E)-dodecenoyl-CoA + H2O2; Xref=Rhea:RHEA:40171, ChEBI:CHEBI:15379, ChEBI:CHEBI:16240, ChEBI:CHEBI:57330, ChEBI:CHEBI:57375; Evidence={ECO:0000269|PubMed:17603022};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=O2 + octanoyl-CoA = (2E)-octenoyl-CoA + H2O2; Xref=Rhea:RHEA:40175, ChEBI:CHEBI:15379, ChEBI:CHEBI:16240, ChEBI:CHEBI:57386, ChEBI:CHEBI:62242; Evidence={ECO:0000269|PubMed:17603022};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=decanoyl-CoA + O2 = (2E)-decenoyl-CoA + H2O2; Xref=Rhea:RHEA:40179, ChEBI:CHEBI:15379, ChEBI:CHEBI:16240, ChEBI:CHEBI:61406, ChEBI:CHEBI:61430; Evidence={ECO:0000269|PubMed:17603022};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=O2 + tetradecanoyl-CoA = (2E)-tetradecenoyl-CoA + H2O2; Xref=Rhea:RHEA:40183, ChEBI:CHEBI:15379, ChEBI:CHEBI:16240, ChEBI:CHEBI:57385, ChEBI:CHEBI:61405; Evidence={ECO:0000269|PubMed:17603022};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=hexadecanedioyl-CoA + O2 = (2E)-hexadecenedioyl-CoA + H2O2; Xref=Rhea:RHEA:40275, ChEBI:CHEBI:15379, ChEBI:CHEBI:16240, ChEBI:CHEBI:77075, ChEBI:CHEBI:77085; Evidence={ECO:0000269|PubMed:17603022};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=O2 + tetracosanoyl-CoA = (2E)-tetracosenoyl-CoA + H2O2; Xref=Rhea:RHEA:40319, ChEBI:CHEBI:15379, ChEBI:CHEBI:16240, ChEBI:CHEBI:65052, ChEBI:CHEBI:74693; Evidence={ECO:0000250|UniProtKB:P07872};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=glutaryl-CoA + O2 = (2E)-glutaconyl-CoA + H2O2; Xref=Rhea:RHEA:40315, ChEBI:CHEBI:15379, ChEBI:CHEBI:16240, ChEBI:CHEBI:57353, ChEBI:CHEBI:57378; Evidence={ECO:0000250|UniProtKB:P07872};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=hexanoyl-CoA + O2 = (2E)-hexenoyl-CoA + H2O2; Xref=Rhea:RHEA:40311, ChEBI:CHEBI:15379, ChEBI:CHEBI:16240, ChEBI:CHEBI:62077, ChEBI:CHEBI:62620; Evidence={ECO:0000250|UniProtKB:P07872};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=O2 + octadecanoyl-CoA = (2E)-octadecenoyl-CoA + H2O2; Xref=Rhea:RHEA:38971, ChEBI:CHEBI:15379, ChEBI:CHEBI:16240, ChEBI:CHEBI:57394, ChEBI:CHEBI:71412; Evidence={ECO:0000250|UniProtKB:P07872};.
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};
GENATLAS Biochemistry:
acyl-CoA oxidase,peroxisomal matrix,medium or long chain,catalyzing the first step of peroxisomal fatty acid beta-oxidation

Enzyme Numbers (IUBMB) for ACOX1 Gene

Phenotypes From GWAS Catalog for ACOX1 Gene

Gene Ontology (GO) - Molecular Function for ACOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003997 acyl-CoA oxidase activity IBA,IMP 7876265
GO:0005504 fatty acid binding IBA 21873635
GO:0016401 palmitoyl-CoA oxidase activity IBA 21873635
GO:0016491 oxidoreductase activity IEA --
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors IEA --
genes like me logo Genes that share ontologies with ACOX1: view
genes like me logo Genes that share phenotypes with ACOX1: view

Human Phenotype Ontology for ACOX1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ACOX1 Gene

MGI Knock Outs for ACOX1:

Animal Model Products

CRISPR Products

miRNA for ACOX1 Gene

miRTarBase miRNAs that target ACOX1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACOX1

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

Localization for ACOX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACOX1 Gene

Peroxisome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACOX1 gene
Compartment Confidence
peroxisome 5
cytosol 4
plasma membrane 3
mitochondrion 3
nucleus 3
extracellular 2
endoplasmic reticulum 2
cytoskeleton 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (2)
  • Peroxisomes (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ACOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005777 peroxisome IBA,IDA 7876265
GO:0005778 peroxisomal membrane IEA --
GO:0005782 peroxisomal matrix TAS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ACOX1: view

Pathways & Interactions for ACOX1 Gene

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

UniProtKB/Swiss-Prot Q15067-ACOX1_HUMAN

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

SIGNOR curated interactions for ACOX1 Gene

Inactivates:
Is activated by:
Is inactivated by:

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 IBA,IMP 18536048
GO:0006091 generation of precursor metabolites and energy IMP 7876265
GO:0006625 protein targeting to peroxisome TAS --
GO:0006629 lipid metabolic process IEA,IDA 8117268
GO:0006631 fatty acid metabolic process IEA --
genes like me logo Genes that share ontologies with ACOX1: view

Drugs & Compounds for ACOX1 Gene

(28) Drugs for ACOX1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma Target 0
Oxygen Approved, Vet_approved Pharma 0
Vayarin Approved, Investigational Pharma Enzyme, substrate 0
Hydrogen peroxide Approved, Vet_approved Pharma 115
(3R)-3-HYDROXYDODECANOIC ACID Experimental Pharma Target 0

(60) Additional Compounds for ACOX1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • AcCoA
  • Acetyl coenzyme A
  • S-Acetyl-CoA
  • S-Acetyl-coenzyme A
  • Ac-CoA
72-89-9
(2E)-Decenoyl-CoA
  • (e)-S-2-Decenoate
  • (e)-S-2-Decenoate CoA
  • (e)-S-2-Decenoate coenzyme A
  • (e)-S-2-Decenoic acid
  • 2-trans-Decenoyl-CoA
10018-95-8
(2E)-Dodecenoyl-CoA
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (e)-C16:1 N-14-CoA
  • (e)-Hexadec-2-enoyl-CoA tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A(4-)
  • trans-2-Hexadecenoyl-CoA(4-)
4460-95-1
(2E)-Octenoyl-CoA
  • (e)-S-2-Octenoate
  • (e)-S-2-Octenoate CoA
  • (e)-S-2-Octenoate coenzyme A
  • (e)-S-2-Octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
10018-94-7
genes like me logo Genes that share compounds with ACOX1: view

Transcripts for ACOX1 Gene

mRNA/cDNA for ACOX1 Gene

3 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACOX1

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

Expression for ACOX1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ACOX1 Gene

Protein differential expression in normal tissues from HIPED for ACOX1 Gene

This gene is overexpressed in Cervix (12.1), Liver (7.7), Peripheral blood mononuclear cells (7.6), and Fetal Liver (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ACOX1 Gene



Protein tissue co-expression partners for ACOX1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACOX1

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.

Evidence on tissue expression from TISSUES for ACOX1 Gene

  • Nervous system(4.8)
  • Liver(4.8)
  • Intestine(4.5)
  • Eye(4.3)
  • Lung(2.9)
  • Muscle(2.9)
  • Kidney(2.8)
  • Blood(2.8)
  • Heart(2.7)
  • Skin(2.7)
  • Pancreas(2.4)
  • Stomach(2.3)
  • Thyroid gland(2.3)
  • Spleen(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ACOX1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • mouth
  • nose
  • outer ear
  • pharynx
  • skull
Thorax:
  • breast
  • esophagus
  • lung
Abdomen:
  • liver
  • stomach
Limb:
  • foot
  • lower limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with ACOX1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and 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 30 31
  • 99.55 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ACOX1 31
  • 92 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia ACOX1 30 31
  • 91.16 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ACOX1 30 31
  • 89.65 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 86 (a)
OneToMany
-- 31
  • 83 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Acox1 30
  • 85.56 (n)
Mouse
(Mus musculus)
Mammalia Acox1 30 17 31
  • 81.06 (n)
OneToOne
Chicken
(Gallus gallus)
Aves ACOX1 30 31
  • 73.43 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ACOX1 31
  • 78 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia acox1 30
  • 66.26 (n)
Zebrafish
(Danio rerio)
Actinopterygii acox1 30 31
  • 67.02 (n)
OneToOne
wufb59h12 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG5009 30 31
  • 52.54 (n)
ManyToMany
BcDNA:GH07485 32
  • 43 (a)
CG4586 31 32
  • 38 (a)
ManyToMany
Acox57D-p 31 32
  • 37 (a)
ManyToMany
Acox57D-d 31 32
  • 36 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011798 30
  • 51.82 (n)
Worm
(Caenorhabditis elegans)
Secernentea acox-1 30 31
  • 52.38 (n)
ManyToMany
F25C8.1 32
  • 46 (a)
F08A8.1 32
  • 43 (a)
F08A8.4 31 32
  • 42 (a)
ManyToMany
F59F4.1 31 32
  • 42 (a)
ManyToMany
F08A8.2 31 32
  • 42 (a)
ManyToMany
F08A8.3 31 32
  • 42 (a)
ManyToMany
C48B4.1 31 32
  • 38 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes POX1 31 33
  • 26 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons ACX1 30
  • 51.84 (n)
Soybean
(Glycine max)
eudicotyledons Gma.8460 30
Rice
(Oryza sativa)
Liliopsida Os06g0103500 30
  • 52.75 (n)
Os.9192 30
Wheat
(Triticum aestivum)
Liliopsida Ta.27205 30
Corn
(Zea mays)
Liliopsida Zm.4993 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.6819 31
  • 54 (a)
OneToMany
CSA.11092 31
  • 43 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.4108 30
Species where no ortholog for ACOX1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for ACOX1: view image

Paralogs for ACOX1 Gene

(3) SIMAP similar genes for ACOX1 Gene using alignment to 7 proteins:

  • ACOX1_HUMAN
  • I3L0T4_HUMAN
  • I3L2U4_HUMAN
  • I3L4S5_HUMAN
  • K7ELT1_HUMAN
  • K7ENF1_HUMAN
  • K7ESC7_HUMAN
genes like me logo Genes that share paralogs with ACOX1: view

Variants for ACOX1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACOX1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
635861 Likely Pathogenic: Muscle weakness 75,948,458(-) C/T SPLICE_ACCEPTOR_VARIANT
656515 Pathogenic: Peroxisomal acyl-CoA oxidase deficiency 75,949,227(-) TC/T FRAMESHIFT_VARIANT
707829 Likely Benign: Peroxisomal acyl-CoA oxidase deficiency 75,957,500(-) T/C MISSENSE_VARIANT
712810 Benign: Peroxisomal acyl-CoA oxidase deficiency 75,949,894(-) G/A SYNONYMOUS_VARIANT
719015 Likely Benign: Peroxisomal acyl-CoA oxidase deficiency 75,948,430(-) T/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for ACOX1 Gene

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

Variant ID Type Subtype PubMed ID
esv2671149 CNV deletion 23128226
esv3641270 CNV gain 21293372
esv3641271 CNV gain 21293372
esv3641272 CNV loss 21293372
nsv833545 CNV gain 17160897

Variation tolerance for ACOX1 Gene

Residual Variation Intolerance Score: 21.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.02; 50.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACOX1 Gene

Human Gene Mutation Database (HGMD)
ACOX1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACOX1

SNP Genotyping and Copy Number Assay Products

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

Disorders for ACOX1 Gene

MalaCards: The human disease database

(15) MalaCards diseases for ACOX1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
peroxisomal acyl-coa oxidase deficiency
  • straight-chain acyl-coa oxidase deficiency
adrenoleukodystrophy
  • sudanophilic cerebral sclerosis
d-bifunctional protein deficiency
  • 17-beta-hydroxysteroid dehydrogenase iv deficiency
rhizomelic chondrodysplasia punctata, type 1
  • rcdp1
zellweger syndrome
  • zs
- elite association - COSMIC cancer census association via MalaCards
Search ACOX1 in MalaCards View complete list of genes associated with diseases

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.

Additional Disease Information for ACOX1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ACOX1: view

No data available for Genatlas for ACOX1 Gene

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 JK (Proceedings of the National Academy of Sciences of the United States of America 1994) 2 3 4 23
  2. Reversal of mouse Acyl-CoA oxidase 1 (ACOX1) null phenotype by human ACOX1b isoform [corrected]. (PMID: 20195242) Vluggens A … Cherkaoui-Malki M (Laboratory investigation; a journal of technical methods and pathology 2010) 3 4 23
  3. Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency. (PMID: 17458872) Ferdinandusse S … Waterham HR (Human mutation 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 (Biochemical and biophysical research communications 2007) 3 4 23
  5. Overexpression and characterization of the human peroxisomal acyl-CoA oxidase in insect cells. (PMID: 7876265) Chu R … Reddy JK (The Journal of biological chemistry 1995) 3 4 23

Products for ACOX1 Gene

Sources for ACOX1 Gene