ACOX1 acyl-CoA oxidase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ACOX1provided by HGNC
Official Full Name: acyl-CoA oxidase 1provided by HGNC
Primary source: HGNC:HGNC:119
See related: Ensembl:ENSG00000161533 MIM:609751; AllianceGenome:HGNC:119
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AOX; ACOX; SCOX; MITCH; PALMCOX
Summary: 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]
Expression: Ubiquitous expression in liver (RPKM 40.5), duodenum (RPKM 21.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q25.1

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (75941507..75979166, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (76834659..76872295, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (73937588..73975247, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ACOX1 Gain-of-Function Variant in Two German Pediatric Patients, in One Case Mimicking Autoimmune Inflammatory Disease.
Title: ACOX1 Gain-of-Function Variant in Two German Pediatric Patients, in One Case Mimicking Autoimmune Inflammatory Disease.
ACOX1-mediated peroxisomal fatty acid oxidation contributes to metabolic reprogramming and survival in chronic lymphocytic leukemia.
Title: ACOX1-mediated peroxisomal fatty acid oxidation contributes to metabolic reprogramming and survival in chronic lymphocytic leukemia.
MiR-103-3p promotes hepatic steatosis to aggravate nonalcoholic fatty liver disease by targeting of ACOX1.
Title: MiR-103-3p promotes hepatic steatosis to aggravate nonalcoholic fatty liver disease by targeting of ACOX1.
Association Between ACOX1 and NRF1 Gene Expression and Hepatitis B and C Virus Infections and Hepatocellular Carcinoma in Liver Transplant Patients (Shiraz, Iran).
Title: Association Between ACOX1 and NRF1 Gene Expression and Hepatitis B and C Virus Infections and Hepatocellular Carcinoma in Liver Transplant Patients (Shiraz, Iran).
Crystal structures of apo- and FAD-bound human peroxisomal acyl-CoA oxidase provide mechanistic basis explaining clinical observations.
Title: Crystal structures of apo- and FAD-bound human peroxisomal acyl-CoA oxidase provide mechanistic basis explaining clinical observations.
Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiency.
Title: Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiency.
Enterovirus 71 induces neural cell apoptosis and autophagy through promoting ACOX1 downregulation and ROS generation.
Title: Enterovirus 71 induces neural cell apoptosis and autophagy through promoting ACOX1 downregulation and ROS generation.
Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms.
Title: Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms.
In non-alcoholic fatty liver disease miR-222 promotes the accumulation of triglycerides by inhibiting ACOX1.
Title: miR-222 targets ACOX1, promotes triglyceride accumulation in hepatocytes.
Because patients with AOx deficiency suffer from more severe symptoms than those with X-ALD, accumulation of VLC-PUFA and/or reduction of DHA may be associated with the severity of peroxisomal diseases.
Title: Very-long-chain polyunsaturated fatty acids accumulate in phosphatidylcholine of fibroblasts from patients with Zellweger syndrome and acyl-CoA oxidase1 deficiency.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Acyl-CoA oxidase deficiency MedGen: C1849678 OMIM: 264470 GeneReviews: Not available	Compare labs
Mitchell syndrome MedGen: C5394554 OMIM: 618960 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

L17688 (e-PCR)
- UniSTS:74509

GDB:434012 (e-PCR)
- UniSTS:157204

RH65536 (e-PCR)
- UniSTS:49443

ACOX1_4327 (e-PCR)
- UniSTS:464446

RH16305 (e-PCR)
- UniSTS:48973

GDB:574052 (e-PCR)
- UniSTS:157790

GDB:574056 (e-PCR)
- UniSTS:157791

GDB:574062 (e-PCR)
- UniSTS:157793

GDB:574064 (e-PCR)
- UniSTS:157795

SHGC-34016 (e-PCR)
- UniSTS:60779

D10S16 (e-PCR)
- UniSTS:155756

D1S1425 (e-PCR)
- UniSTS:149621

G35510 (e-PCR)
- UniSTS:44150

RH16429 (e-PCR)
- UniSTS:59805

SHGC-30509 (e-PCR)
- UniSTS:4779

G20374 (e-PCR)
- UniSTS:61371

A005O17 (e-PCR)
- UniSTS:61372

GDB:313783 (e-PCR)
- UniSTS:13512

SHGC-57116 (e-PCR)
- UniSTS:79057

GDB:340951 (e-PCR)
- UniSTS:156628

G60178 (e-PCR)
- UniSTS:137437

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables FAD binding	IDA Inferred from Direct Assay more info	PubMed
enables FAD binding	IEA Inferred from Electronic Annotation more info
enables PDZ domain binding	IDA Inferred from Direct Assay more info	PubMed
enables acyl-CoA oxidase activity	IDA Inferred from Direct Assay more info	PubMed
enables acyl-CoA oxidase activity	IGI Inferred from Genetic Interaction more info	PubMed
enables acyl-CoA oxidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables fatty acid binding	IBA Inferred from Biological aspect of Ancestor more info
enables flavin adenine dinucleotide binding	IBA Inferred from Biological aspect of Ancestor more info
enables palmitoyl-CoA oxidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables palmitoyl-CoA oxidase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cholesterol homeostasis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in fatty acid beta-oxidation using acyl-CoA oxidase	IBA Inferred from Biological aspect of Ancestor more info
involved_in fatty acid beta-oxidation using acyl-CoA oxidase	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in fatty acid catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in fatty acid oxidation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in fatty acid oxidation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in generation of precursor metabolites and energy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hydrogen peroxide biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lipid homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in lipid homeostasis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in lipid metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in peroxisome fission	IGI Inferred from Genetic Interaction more info	PubMed
involved_in prostaglandin metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info
involved_in very long-chain fatty acid beta-oxidation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in very long-chain fatty acid metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in very long-chain fatty acid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in membrane	HDA more info	PubMed
located_in peroxisomal matrix	TAS Traceable Author Statement more info
located_in peroxisomal membrane	IEA Inferred from Electronic Annotation more info
is_active_in peroxisome	IBA Inferred from Biological aspect of Ancestor more info
is_active_in peroxisome	IDA Inferred from Direct Assay more info	PubMed
located_in peroxisome	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: peroxisomal acyl-coenzyme A oxidase 1

Names: acyl-CoA oxidase 1, palmitoyl; acyl-CoA oxidase, straight-chain; acyl-Coenzyme A oxidase 1, palmitoyl; palmitoyl-CoA oxidase; peroxisomal fatty acyl-CoA oxidase; straight-chain acyl-CoA oxidase

NP_001171968.1

EC 1.3.3.6

NP_004026.2

EC 1.3.3.6

NP_009223.2

EC 1.3.3.6

XP_047292138.1

EC 1.3.3.6

XP_047292139.1

EC 1.3.3.6

XP_054172311.1

EC 1.3.3.6

XP_054172312.1

EC 1.3.3.6

NCBI Reference Sequences (RefSeq)

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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.

Genomic

NG_008190.1 RefSeqGene

Range

5198..42857

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001185039.2 → NP_001171968.1 peroxisomal acyl-coenzyme A oxidase 1 isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a.

Source sequence(s)

AC087289, AK296409, BC008767, BQ943492, DC297086

UniProtKB/TrEMBL

B4DU07

Conserved Domains (2) summary

cd01150
Location:2 → 599

AXO; Peroxisomal acyl-CoA oxidase

PLN02443
Location:1 → 613

PLN02443; acyl-coenzyme A oxidase
NM_004035.7 → NP_004026.2 peroxisomal acyl-coenzyme A oxidase 1 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform a, alternately referred to as ACOX1b per PMID: 17603022.

Source sequence(s)

AC087289, BC008767, BQ943492

Consensus CDS

CCDS11734.1

UniProtKB/TrEMBL

B4DU07

Related

ENSP00000293217.4, ENST00000293217.10

Conserved Domains (2) summary

cd01150
Location:3 → 637

AXO; Peroxisomal acyl-CoA oxidase

PLN02443
Location:5 → 651

PLN02443; acyl-coenzyme A oxidase
NM_007292.6 → NP_009223.2 peroxisomal acyl-coenzyme A oxidase 1 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (2) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. The encoded isoform (b, alternately known as ACOX1a per PMID: 17603022), is the same length as isoform a.

Source sequence(s)

AC087289, AK292965, BC008767, BQ943492, DC297086

Consensus CDS

CCDS11735.1

UniProtKB/Swiss-Prot

A8K6X8, A8KAA0, B4DK61, F5GYQ8, Q12863, Q15067, Q15068, Q15101, Q16131, Q7Z3W5, Q9UD31

UniProtKB/TrEMBL

B4DU07

Related

ENSP00000301608.4, ENST00000301608.9

Conserved Domains (1) summary

cd01150
Location:3 → 637

AXO; Peroxisomal acyl-CoA oxidase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

75941507..75979166 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047436183.1 → XP_047292139.1 peroxisomal acyl-coenzyme A oxidase 1 isoform X2
XM_047436182.1 → XP_047292138.1 peroxisomal acyl-coenzyme A oxidase 1 isoform X1

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

76834659..76872295 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054316337.1 → XP_054172312.1 peroxisomal acyl-coenzyme A oxidase 1 isoform X2
XM_054316336.1 → XP_054172311.1 peroxisomal acyl-coenzyme A oxidase 1 isoform X1