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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
External Ids for ACOX1 Gene
- HGNC: 119
- Entrez Gene: 51
- Ensembl: ENSG00000161533
- OMIM: 609751
- UniProtKB: Q15067
Previous GeneCards Identifiers for ACOX1 Gene
- GC17P073433
- GC17M076968
- GC17M074401
- GC17M074538
- GC17M071453
- GC17M073937
- GC17M069363
Summaries 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.
Additional gene information for ACOX1 Gene
- HGNC(119)
- Entrez Gene(51)
- Ensembl(ENSG00000161533)
- OMIM(609751)
- UniProtKB(Q15067)
- Open Targets Platform(ENSG00000161533)
- Monarch Initiative
- Search for ACOX1 at DataMed
- Search for ACOX1 at HumanCyc
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
- 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:
-
- 17q25.1 by HGNC
- 17q25.1 by Entrez Gene
- 17q25.1 by Ensembl
ACOX1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
Protein Expression 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
Other Protein References for ACOX1 Gene
Antibody Products
- LifeSpan BioSciences ACOX1 / ACOX Monoclonal Antibody
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- NSJ Bioreagents ACOX1 Antibody (Mouse Monoclonal)
-
Custom Antibody ServicesOriGene Antibodies for ACOX1
- Novus Biologicals Antibodies for ACOX1
- Invitrogen Antibodies for ACOX1 (AFLGC-ACOX1)
-
Boster Bio Antibodies for ACOX1
-
Santa Cruz Biotechnology (SCBT) Antibodies for ACOX1
- Sino Biological Antibodies for ACOX1
Protein Products
-
OriGene Purified Proteins for ACOX1
- Search Origene for MassSpec and Protein Over-expression Lysates for ACOX1
- Origene Custom Protein Services for ACOX1
- Sino Biological Cell Lysates for ACOX1
- Sino Biological Recombinant Proteins for ACOX1
-
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
Protein Domains for ACOX1 Gene
- InterPro:
- Blocks:
-
- Acyl-CoA oxidase
- ProtoNet:
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- Family:
-
- Belongs to the acyl-CoA oxidase family.
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
| 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 | -- |
Phenotypes for ACOX1 Gene
- MGI mutant phenotypes for ACOX1:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for ACOX1:
Animal Models for ACOX1 Gene
- MGI Knock Outs for ACOX1:
-
- Acox1 Acox1<tm1Jkr>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ACOX1 - Select products 50% OFF >
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OriGene CRISPR knockouts for ACOX1
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-
Santa Cruz Biotechnology (SCBT) CRISPR for ACOX1
miRNA for ACOX1 Gene
- miRTarBase miRNAs that target ACOX1
-
- hsa-miR-92b-5p (MIRT037792)
- hsa-miR-615-3p (MIRT040279)
- hsa-miR-3122 (MIRT116995)
- hsa-miR-3913-5p (MIRT116999)
- hsa-miR-155-5p (MIRT251781)
- hsa-miR-153-5p (MIRT442308)
- hsa-miR-365b-3p (MIRT442309)
- hsa-miR-365a-3p (MIRT442310)
- hsa-miR-1273e (MIRT559733)
- hsa-miR-650 (MIRT559734)
- hsa-miR-3612 (MIRT559735)
- hsa-miR-2467-3p (MIRT559736)
- hsa-miR-1827 (MIRT559737)
- hsa-miR-219b-3p (MIRT559738)
- hsa-miR-4649-3p (MIRT559739)
- hsa-miR-1247-3p (MIRT559740)
- hsa-miR-3919 (MIRT559741)
- hsa-miR-6511a-5p (MIRT559742)
- hsa-miR-1910-3p (MIRT559743)
- hsa-miR-3123 (MIRT559744)
- hsa-miR-302f (MIRT559745)
- hsa-miR-6513-5p (MIRT629838)
- hsa-miR-887-5p (MIRT629839)
- hsa-miR-450a-1-3p (MIRT629840)
- hsa-miR-6796-5p (MIRT629841)
- hsa-miR-7109-5p (MIRT629842)
- hsa-miR-7977 (MIRT629843)
- hsa-miR-6742-5p (MIRT629844)
- hsa-miR-4472 (MIRT629845)
- hsa-miR-4447 (MIRT629846)
- hsa-miR-3151-5p (MIRT629847)
- hsa-miR-491-5p (MIRT629848)
- hsa-miR-6885-5p (MIRT629849)
- hsa-miR-328-5p (MIRT629850)
- hsa-miR-6887-5p (MIRT629851)
- hsa-miR-6795-5p (MIRT629852)
- hsa-miR-5196-5p (MIRT629853)
- hsa-miR-4747-5p (MIRT629854)
- hsa-miR-383-3p (MIRT629855)
- hsa-miR-595 (MIRT629856)
- hsa-miR-7855-5p (MIRT660932)
- hsa-miR-548s (MIRT660933)
- hsa-miR-3926 (MIRT660934)
- hsa-miR-3190-5p (MIRT660935)
- hsa-miR-6849-3p (MIRT660936)
- hsa-miR-4433a-3p (MIRT660937)
- hsa-miR-4459 (MIRT660938)
- hsa-miR-4768-3p (MIRT660939)
- hsa-miR-6516-5p (MIRT695581)
- hsa-miR-455-3p (MIRT695582)
- hsa-miR-6807-5p (MIRT695583)
- hsa-miR-6788-3p (MIRT695584)
- hsa-miR-6499-3p (MIRT695585)
- hsa-miR-4474-3p (MIRT711297)
- hsa-miR-24-3p (MIRT711298)
- hsa-miR-4284 (MIRT711299)
- hsa-miR-6787-3p (MIRT711300)
- hsa-miR-342-3p (MIRT711301)
- hsa-miR-3065-3p (MIRT711302)
- hsa-miR-1228-3p (MIRT711303)
- hsa-miR-216b-5p (MIRT711304)
- hsa-miR-216a-5p (MIRT711305)
- hsa-miR-619-5p (MIRT719063)
- hsa-miR-5004-3p (MIRT719064)
- hsa-miR-4665-3p (MIRT719065)
- hsa-miR-636 (MIRT719066)
- hsa-miR-6778-3p (MIRT719067)
- hsa-miR-150-5p (MIRT719068)
- hsa-miR-7107-5p (MIRT719069)
- hsa-miR-1234-3p (MIRT719070)
- hsa-miR-186-3p (MIRT719071)
- hsa-miR-520h (MIRT719072)
- hsa-miR-520g-3p (MIRT719073)
- hsa-miR-520f-3p (MIRT719074)
- hsa-miR-302c-3p (MIRT719075)
- hsa-miR-520e (MIRT719076)
- hsa-miR-520d-3p (MIRT719077)
- hsa-miR-520c-3p (MIRT719078)
- hsa-miR-520b (MIRT719079)
- hsa-miR-520a-3p (MIRT719080)
- hsa-miR-373-3p (MIRT719081)
- hsa-miR-372-3p (MIRT719082)
- hsa-miR-302e (MIRT719083)
- hsa-miR-302d-3p (MIRT719084)
- hsa-miR-302b-3p (MIRT719085)
- hsa-miR-302a-3p (MIRT719086)
- hsa-miR-93-5p (MIRT719087)
- hsa-miR-526b-3p (MIRT719088)
- hsa-miR-519d-3p (MIRT719089)
- hsa-miR-20b-5p (MIRT719090)
- hsa-miR-20a-5p (MIRT719091)
- hsa-miR-17-5p (MIRT719092)
- hsa-miR-106b-5p (MIRT719093)
- hsa-miR-106a-5p (MIRT719094)
- hsa-miR-195-5p (MIRT728397)
- hsa-miR-16-5p (MIRT728398)
- hsa-miR-15b-5p (MIRT728399)
- hsa-miR-15a-5p (MIRT728400)
- hsa-miR-1293 (MIRT762326)
- hsa-miR-3165 (MIRT765173)
- hsa-miR-339-5p (MIRT765670)
- hsa-miR-363-5p (MIRT766220)
- hsa-miR-4421 (MIRT768830)
- hsa-miR-4483 (MIRT769593)
- hsa-miR-5699-3p (MIRT775177)
- hsa-miR-6134 (MIRT775923)
- hsa-miR-6745 (MIRT778190)
- hsa-miR-6748-5p (MIRT778324)
- hsa-miR-6756-5p (MIRT778398)
- hsa-miR-6766-5p (MIRT778553)
- hsa-miR-6769a-5p (MIRT778576)
- hsa-miR-6769b-5p (MIRT778586)
- hsa-miR-6771-3p (MIRT778602)
miRNA Products
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Clone Products
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- MG209849
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- RC230362L3V
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- RR203259L3V
- RR203259L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ACOX1
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Cell Line Products
-
Horizon Cell Lines 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.
| 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 |
- Nucleoli (2)
- Peroxisomes (2)
| 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 | -- |
Pathways & Interactions for ACOX1 Gene
Pathways by source for ACOX1 Gene
3 BioSystems pathways for ACOX1 Gene
11 KEGG pathways for ACOX1 Gene
UniProtKB/Swiss-Prot Q15067-ACOX1_HUMAN
- Pathway: Lipid metabolism; peroxisomal fatty acid beta-oxidation.
Interacting Proteins for ACOX1 Gene
GPS-Prot Interaction Network for ACOX1
SIGNOR curated interactions 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 | -- |
Drugs & Compounds for ACOX1 Gene
| 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 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| acetyl-coa |
|
72-89-9 | ||||
| (2E)-Decenoyl-CoA |
|
10018-95-8 |
|
|||
| (2E)-Dodecenoyl-CoA |
|
1066-12-2 |
|
|||
| (2E)-Hexadecenoyl-CoA |
|
4460-95-1 |
|
|||
| (2E)-Octenoyl-CoA |
|
10018-94-7 |
|
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 :
-
- ENST00000293217 7317 nts (view in UCSC)
- ENST00000588968 706 nts (view in UCSC)
- ENST00000587927 775 nts (view in UCSC)
- ENST00000591963 388 nts (view in UCSC)
- ENST00000572047 2441 nts (view in UCSC)
CRISPR Products
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-
Santa Cruz Biotechnology (SCBT) CRISPR for ACOX1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ACOX1
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Clone Products
- Applied Biological Materials (abm): Clones for ACOX1 - Select products 50% OFF >
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- MG209849
- MR209849
- MR209849L3
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- RC200230L1
- RC200230L2
- RC200230L3
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ACOX1
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| 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
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACOX1
SOURCE GeneReport for Unigene cluster for ACOX1 Gene:
Hs.464137mRNA 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
Primer Products
-
OriGene qPCR primer pairs for ACOX1
-
OriGene qPCR primer pairs and template standards for ACOX1
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ACOX1 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | ACOX1 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ACOX1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ACOX1 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Rat (Rattus norvegicus) |
Mammalia | Acox1 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Acox1 30 17 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | ACOX1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | ACOX1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | acox1 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | acox1 30 31 |
|
OneToOne | |
| wufb59h12 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG5009 30 31 |
|
ManyToMany | |
| BcDNA:GH07485 32 |
|
|
|||
| CG4586 31 32 |
|
ManyToMany | |||
| Acox57D-p 31 32 |
|
ManyToMany | |||
| Acox57D-d 31 32 |
|
ManyToMany | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP011798 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | acox-1 30 31 |
|
ManyToMany | |
| F25C8.1 32 |
|
|
|||
| F08A8.1 32 |
|
|
|||
| F08A8.4 31 32 |
|
ManyToMany | |||
| F59F4.1 31 32 |
|
ManyToMany | |||
| F08A8.2 31 32 |
|
ManyToMany | |||
| F08A8.3 31 32 |
|
ManyToMany | |||
| C48B4.1 31 32 |
|
ManyToMany | |||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | POX1 31 33 |
|
OneToMany | |
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | ACX1 30 |
|
||
| Soybean (Glycine max) |
eudicotyledons | Gma.8460 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os06g0103500 30 |
|
||
| 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 |
|
OneToMany | |
| CSA.11092 31 |
|
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
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
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 |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACOX1 Gene
Disorders for ACOX1 Gene
(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 |
|
|
| adrenoleukodystrophy |
|
|
| d-bifunctional protein deficiency |
|
|
| rhizomelic chondrodysplasia punctata, type 1 |
|
|
| zellweger syndrome |
|
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
No data available for Genatlas for ACOX1 Gene
Publications for ACOX1 Gene
- 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
- 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
- Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency. (PMID: 17458872) Ferdinandusse S … Waterham HR (Human mutation 2007) 3 4 23
- 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
- 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
ExternalLinks
Products for ACOX1 Gene
- Custom Antibody ServicesOriGene Antibodies for ACOX1
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- OriGene qPCR primer pairs for ACOX1
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- OriGene CRISPR knockouts for ACOX1
- MG209849
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- MR209849L4
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- RC200230
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- RR203259L3
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For ACOX1
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- Sino Biological Antibodies for ACOX1
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- Novus Biologicals proteins and lysates for ACOX1
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- antibodies-online: Show 34 available ACOX1 Antibodies ranked by validation data
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- antibodies-online: Show 8 available ACOX1 Proteins ranked by validation data
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- Santa Cruz Biotechnology (SCBT) Antibodies for ACOX1
- Search Santa Cruz Biotechnology (SCBT) for ACOX1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for ACOX1
- Horizon Cell Lines for ACOX1
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- Boster Bio Antibodies for ACOX1
- Browse Boster Bio ELISA Kits
Sources for ACOX1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103)