ACOX1

Protein identityUniProt · HPA

UniProt accession

Q15067

Gene

ACOX1

Ensembl

ENSG00000161533

Chromosome

17

Canonical length

660 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Nucleoli,Peroxisomes

Quaternary structure

Homodimer

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

660 residues, UniProt reviewed canonical sequence.

>Q15067|ACOX1
     1  MNPDLRRERD SASFNPELLT HILDGSPEKT RRRREIENMI LNDPDFQHED LNFLTRSQRY
    61  EVAVRKSAIM VKKMREFGIA DPDEIMWFKK LHLVNFVEPV GLNYSMFIPT LLNQGTTAQK
   121  EKWLLSSKGL QIIGTYAQTE MGHGTHLRGL ETTATYDPET QEFILNSPTV TSIKWWPGGL
   181  GKTSNHAIVL AQLITKGKCY GLHAFIVPIR EIGTHKPLPG ITVGDIGPKF GYDEIDNGYL
   241  KMDNHRIPRE NMLMKYAQVK PDGTYVKPLS NKLTYGTMVF VRSFLVGEAA RALSKACTIA
   301  IRYSAVRHQS EIKPGEPEPQ ILDFQTQQYK LFPLLATAYA FQFVGAYMKE TYHRINEGIG
   361  QGDLSELPEL HALTAGLKAF TSWTANTGIE ACRMACGGHG YSHCSGLPNI YVNFTPSCTF
   421  EGENTVMMLQ TARFLMKSYD QVHSGKLVCG MVSYLNDLPS QRIQPQQVAV WPTMVDINSP
   481  ESLTEAYKLR AARLVEIAAK NLQKEVIHRK SKEVAWNLTS VDLVRASEAH CHYVVVKLFS
   541  EKLLKIQDKA IQAVLRSLCL LYSLYGISQN AGDFLQGSIM TEPQITQVNQ RVKELLTLIR
   601  SDAVALVDAF DFQDVTLGSV LGRYDGNVYE NLFEWAKNSP LNKAEVHESY KHLKSLQSKL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ACOX1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.23

Highest tissue expression

113 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ACOX1.

Disease | AllUniProt

Conditions ACOX1 is implicated in, by any mechanism.

• Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) MIM:264470
• Mitchell syndrome (MITCH) MIM:618960

Disease | GeneticClinVar

81 pathogenic / likely-pathogenic of 934 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Acyl-CoA oxidase deficiency
• Mitchell syndrome
• ACOX1-related disorder
• Inborn genetic diseases
• Muscle weakness

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.46

gnomAD pLI

0.06

gnomAD missense Z

1.98

DepMap mean gene effect

-0.23

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• alpha-linolenic acid metabolic process
• cholesterol homeostasis
• fatty acid beta-oxidation using acyl-CoA oxidase
• fatty acid catabolic process
• fatty acid derivative biosynthetic process
• fatty acid oxidation
• generation of precursor metabolites and energy
• hydrogen peroxide biosynthetic process
• lipid homeostasis
• lipid metabolic process
• long-chain fatty acid biosynthetic process
• peroxisome fission
• prostaglandin metabolic process
• spermatogenesis
• unsaturated fatty acid biosynthetic process
• very long-chain fatty acid metabolic process
• very long-chain fatty acid beta-oxidation

Molecular functions

• acyl-CoA oxidase activity
• FAD binding
• fatty acid binding
• flavin adenine dinucleotide binding
• long-chain fatty acyl-CoA oxidase activity
• PDZ domain binding
• protein homodimerization activity

Cellular components

• cytosol
• membrane
• peroxisomal matrix
• peroxisomal membrane
• peroxisome

Protein domainsUniProt · Pfam · InterPro

• Acyl-CoA oxidase, C-terminal
• Acyl-CoA dehydrogenase/oxidase, middle domain
• Acyl-CoA dehydrogenase/oxidase, N-terminal and middle domain superfamily
• Acyl-CoA oxidase
• Acyl-coenzyme A oxidase, N-terminal
• Peroxisomal acyl-coenzyme A oxidase
• Acyl-CoA dehydrogenase-like, C-terminal
• Acyl-CoA dehydrogenase/oxidase, N-terminal domain superfamily
• Acyl-CoA oxidase/dehydrogenase, middle domain superfamily
• Acyl-CoA oxidase, C-alpha1 domain
• Acyl-CoA oxidase
• Acyl-CoA dehydrogenase, middle domain
• Acyl-coenzyme A oxidase N-terminal
• Acyl-CoA oxidase, C-alpha1 domain

KeywordsUniProt

• Acetylation
• Deafness
• FAD
• Fatty acid metabolism
• Flavoprotein
• Lipid metabolism
• Neuropathy
• Oxidoreductase
• Peroxisome
• Phosphoprotein

InteractionsUniProt · HPA

Protein binding partners of ACOX1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• LONP2