ACOX1 (acyl-CoA oxidase 1)

Gene

• Entrez ID: 51
• Gene name: Acyl-CoA oxidase 1
• Gene symbol: ACOX1
• Synonyms: ACOX, MITCH, PALMCOX, SCOX
• Chromosome: 17
• Chromosome location: 17q25.1
• 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]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs118204090	T>C	Pathogenic	Coding sequence variant, missense variant
rs118204091	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs118204092	T>C	Pathogenic	Coding sequence variant, missense variant
rs118204093	G>A	Pathogenic	Coding sequence variant, stop gained
rs387906248	TTCCAGGCGGGCATGAAG>-	Pathogenic	Intron variant, inframe deletion, coding sequence variant
rs566377861	C>G,T	Likely-pathogenic	Splice acceptor variant
rs747192384	TT>-,T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs797045080	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1292759098	C>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT037792	hsa-miR-92b-5p	CLASH	23622248
MIRT040279	hsa-miR-615-3p	CLASH	23622248
MIRT116995	hsa-miR-3122	HITS-CLIP	23824327
MIRT116999	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT251781	hsa-miR-155-5p	PAR-CLIP	22100165
MIRT442308	hsa-miR-153-5p	PAR-CLIP	22100165
MIRT442309	hsa-miR-365b-3p	PAR-CLIP	22100165
MIRT442310	hsa-miR-365a-3p	PAR-CLIP	22100165
MIRT559733	hsa-miR-1273e	PAR-CLIP	21572407
MIRT559734	hsa-miR-650	PAR-CLIP	21572407
MIRT559735	hsa-miR-3612	PAR-CLIP	21572407
MIRT559736	hsa-miR-2467-3p	PAR-CLIP	21572407
MIRT559737	hsa-miR-1827	PAR-CLIP	21572407
MIRT559738	hsa-miR-219b-3p	PAR-CLIP	21572407
MIRT559739	hsa-miR-4649-3p	PAR-CLIP	21572407
MIRT559740	hsa-miR-1247-3p	PAR-CLIP	21572407
MIRT559741	hsa-miR-3919	PAR-CLIP	21572407
MIRT559742	hsa-miR-6511a-5p	PAR-CLIP	21572407
MIRT559743	hsa-miR-1910-3p	PAR-CLIP	21572407
MIRT559744	hsa-miR-3123	PAR-CLIP	21572407
MIRT559745	hsa-miR-302f	PAR-CLIP	21572407
MIRT629838	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT629839	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT629840	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT629841	hsa-miR-6796-5p	HITS-CLIP	23824327
MIRT629842	hsa-miR-7109-5p	HITS-CLIP	23824327
MIRT629843	hsa-miR-7977	HITS-CLIP	23824327
MIRT629844	hsa-miR-6742-5p	HITS-CLIP	23824327
MIRT629845	hsa-miR-4472	HITS-CLIP	23824327
MIRT629846	hsa-miR-4447	HITS-CLIP	23824327
MIRT629847	hsa-miR-3151-5p	HITS-CLIP	23824327
MIRT629848	hsa-miR-491-5p	HITS-CLIP	23824327
MIRT629849	hsa-miR-6885-5p	HITS-CLIP	23824327
MIRT629850	hsa-miR-328-5p	HITS-CLIP	23824327
MIRT629851	hsa-miR-6887-5p	HITS-CLIP	23824327
MIRT629852	hsa-miR-6795-5p	HITS-CLIP	23824327
MIRT629853	hsa-miR-5196-5p	HITS-CLIP	23824327
MIRT629854	hsa-miR-4747-5p	HITS-CLIP	23824327
MIRT629855	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT629855	hsa-miR-383-3p	HITS-CLIP	19536157
MIRT629856	hsa-miR-595	HITS-CLIP	23824327
MIRT660932	hsa-miR-7855-5p	HITS-CLIP	23824327
MIRT660932	hsa-miR-7855-5p	PAR-CLIP	27292025
MIRT660933	hsa-miR-548s	HITS-CLIP	23824327
MIRT660933	hsa-miR-548s	PAR-CLIP	27292025
MIRT660934	hsa-miR-3926	HITS-CLIP	23824327
MIRT660934	hsa-miR-3926	PAR-CLIP	27292025
MIRT660935	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT660935	hsa-miR-3190-5p	PAR-CLIP	27292025
MIRT660936	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT660936	hsa-miR-6849-3p	PAR-CLIP	27292025
MIRT660937	hsa-miR-4433a-3p	HITS-CLIP	23824327
MIRT660937	hsa-miR-4433a-3p	PAR-CLIP	27292025
MIRT660938	hsa-miR-4459	HITS-CLIP	23824327
MIRT660938	hsa-miR-4459	PAR-CLIP	27292025
MIRT660939	hsa-miR-4768-3p	HITS-CLIP	23824327
MIRT660939	hsa-miR-4768-3p	PAR-CLIP	27292025
MIRT695581	hsa-miR-6516-5p	HITS-CLIP	23313552
MIRT695582	hsa-miR-455-3p	HITS-CLIP	23313552
MIRT695583	hsa-miR-6807-5p	HITS-CLIP	23313552
MIRT695584	hsa-miR-6788-3p	HITS-CLIP	23313552
MIRT695585	hsa-miR-6499-3p	HITS-CLIP	23313552
MIRT711297	hsa-miR-4474-3p	HITS-CLIP	19536157
MIRT711298	hsa-miR-24-3p	HITS-CLIP	19536157
MIRT711299	hsa-miR-4284	HITS-CLIP	19536157
MIRT711300	hsa-miR-6787-3p	HITS-CLIP	19536157
MIRT711301	hsa-miR-342-3p	HITS-CLIP	19536157
MIRT711302	hsa-miR-3065-3p	HITS-CLIP	19536157
MIRT711303	hsa-miR-1228-3p	HITS-CLIP	19536157
MIRT711304	hsa-miR-216b-5p	HITS-CLIP	19536157
MIRT711305	hsa-miR-216a-5p	HITS-CLIP	19536157
MIRT719063	hsa-miR-619-5p	HITS-CLIP	19536157
MIRT719064	hsa-miR-5004-3p	HITS-CLIP	19536157
MIRT719065	hsa-miR-4665-3p	HITS-CLIP	19536157
MIRT719066	hsa-miR-636	HITS-CLIP	19536157
MIRT719067	hsa-miR-6778-3p	HITS-CLIP	19536157
MIRT719068	hsa-miR-150-5p	HITS-CLIP	19536157
MIRT719069	hsa-miR-7107-5p	HITS-CLIP	19536157
MIRT719070	hsa-miR-1234-3p	HITS-CLIP	19536157
MIRT719071	hsa-miR-186-3p	HITS-CLIP	19536157
MIRT719072	hsa-miR-520h	HITS-CLIP	19536157
MIRT719073	hsa-miR-520g-3p	HITS-CLIP	19536157
MIRT719074	hsa-miR-520f-3p	HITS-CLIP	19536157
MIRT719075	hsa-miR-302c-3p	HITS-CLIP	19536157
MIRT719076	hsa-miR-520e	HITS-CLIP	19536157
MIRT719077	hsa-miR-520d-3p	HITS-CLIP	19536157
MIRT719078	hsa-miR-520c-3p	HITS-CLIP	19536157
MIRT719079	hsa-miR-520b	HITS-CLIP	19536157
MIRT719080	hsa-miR-520a-3p	HITS-CLIP	19536157
MIRT719081	hsa-miR-373-3p	HITS-CLIP	19536157
MIRT719082	hsa-miR-372-3p	HITS-CLIP	19536157
MIRT719083	hsa-miR-302e	HITS-CLIP	19536157
MIRT719084	hsa-miR-302d-3p	HITS-CLIP	19536157
MIRT719085	hsa-miR-302b-3p	HITS-CLIP	19536157
MIRT719086	hsa-miR-302a-3p	HITS-CLIP	19536157
MIRT719087	hsa-miR-93-5p	HITS-CLIP	19536157
MIRT719088	hsa-miR-526b-3p	HITS-CLIP	19536157
MIRT719089	hsa-miR-519d-3p	HITS-CLIP	19536157
MIRT719090	hsa-miR-20b-5p	HITS-CLIP	19536157
MIRT719091	hsa-miR-20a-5p	HITS-CLIP	19536157
MIRT719092	hsa-miR-17-5p	HITS-CLIP	19536157
MIRT719093	hsa-miR-106b-5p	HITS-CLIP	19536157
MIRT719094	hsa-miR-106a-5p	HITS-CLIP	19536157
MIRT728397	hsa-miR-195-5p	HITS-CLIP	22473208
MIRT728398	hsa-miR-16-5p	HITS-CLIP	22473208
MIRT728399	hsa-miR-15b-5p	HITS-CLIP	22473208
MIRT728400	hsa-miR-15a-5p	HITS-CLIP	22473208
MIRT762326	hsa-miR-1293	PAR-CLIP	27292025
MIRT765173	hsa-miR-3165	PAR-CLIP	27292025
MIRT765670	hsa-miR-339-5p	PAR-CLIP	27292025
MIRT766220	hsa-miR-363-5p	PAR-CLIP	27292025
MIRT768830	hsa-miR-4421	PAR-CLIP	27292025
MIRT769593	hsa-miR-4483	PAR-CLIP	27292025
MIRT775177	hsa-miR-5699-3p	PAR-CLIP	27292025
MIRT775923	hsa-miR-6134	PAR-CLIP	27292025
MIRT778190	hsa-miR-6745	PAR-CLIP	27292025
MIRT778324	hsa-miR-6748-5p	PAR-CLIP	27292025
MIRT778398	hsa-miR-6756-5p	PAR-CLIP	27292025
MIRT778553	hsa-miR-6766-5p	PAR-CLIP	27292025
MIRT778576	hsa-miR-6769a-5p	PAR-CLIP	27292025
MIRT778586	hsa-miR-6769b-5p	PAR-CLIP	27292025
MIRT778602	hsa-miR-6771-3p	PAR-CLIP	27292025

Transcription factors

Transcription factor	Regulation	Reference
PPARA	Unknown	20110263

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000038	Process	Very long-chain fatty acid metabolic process	IBA	21873635
GO:0000038	Process	Very long-chain fatty acid metabolic process	IMP	18536048
GO:0003997	Function	Acyl-CoA oxidase activity	IBA	21873635
GO:0003997	Function	Acyl-CoA oxidase activity	IDA	8117268
GO:0003997	Function	Acyl-CoA oxidase activity	IMP	7876265, 18536048, 32169171
GO:0005504	Function	Fatty acid binding	IBA	21873635
GO:0005777	Component	Peroxisome	IBA	21873635
GO:0005777	Component	Peroxisome	IDA	7876265, 8117268, 8943006, 17881773, 32169171
GO:0005778	Component	Peroxisomal membrane	IEA
GO:0005782	Component	Peroxisomal matrix	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006091	Process	Generation of precursor metabolites and energy	IMP	7876265
GO:0006625	Process	Protein targeting to peroxisome	TAS
GO:0006629	Process	Lipid metabolic process	IDA	8117268
GO:0006693	Process	Prostaglandin metabolic process	IMP	7876265
GO:0007283	Process	Spermatogenesis	IEA
GO:0009062	Process	Fatty acid catabolic process	IMP	32169171
GO:0016020	Component	Membrane	HDA	19946888
GO:0016401	Function	Palmitoyl-CoA oxidase activity	IBA	21873635
GO:0019216	Process	Regulation of lipid metabolic process	TAS
GO:0019395	Process	Fatty acid oxidation	IMP	7876265
GO:0030165	Function	PDZ domain binding	IDA	23209302
GO:0033540	Process	Fatty acid beta-oxidation using acyl-CoA oxidase	IBA	21873635
GO:0033540	Process	Fatty acid beta-oxidation using acyl-CoA oxidase	IEA
GO:0033540	Process	Fatty acid beta-oxidation using acyl-CoA oxidase	IMP	18536048, 32169171
GO:0033540	Process	Fatty acid beta-oxidation using acyl-CoA oxidase	TAS
GO:0036109	Process	Alpha-linolenic acid metabolic process	TAS
GO:0042803	Function	Protein homodimerization activity	IDA	32169171
GO:0047485	Function	Protein N-terminus binding	IPI	18281296
GO:0050660	Function	Flavin adenine dinucleotide binding	IBA	21873635
GO:0050665	Process	Hydrogen peroxide biosynthetic process	IMP	32169171
GO:0055088	Process	Lipid homeostasis	IBA	21873635
GO:0071949	Function	FAD binding	IEA

Other IDs

• MIM: 609751
• HGNC: 119
• e!Ensembl: ENSG00000161533

Protein

• UniProt ID: Q15067
• Protein name: Peroxisomal acyl-coenzyme A oxidase 1 (AOX) (EC 1.3.3.6) (Palmitoyl-CoA oxidase) (Straight-chain acyl-CoA oxidase) (SCOX) [Cleaved into: Peroxisomal acyl-CoA oxidase 1, A chain; Peroxisomal acyl-CoA oxidase 1, B chain; Peroxisomal acyl-CoA oxidase 1, C chain]
• Protein function: Catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs. First enzyme of the fatty acid beta-oxidation pathway. ; [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.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14749	Acyl-CoA_ox_N	15 → 133	Acyl-coenzyme A oxidase N-terminal	Domain
  PF02770	Acyl-CoA_dh_M	135 → 245	Acyl-CoA dehydrogenase, middle domain	Domain
  PF01756	ACOX	479 → 657	Acyl-CoA oxidase	Family

• Sequence:

  MNPDLRRERDSASFNPELLTHILDGSPEKTRRRREIENMILNDPDFQHEDLNFLTRSQRY
  EVAVRKSAIMVKKMREFGIADPDEIMWFKKLHLVNFVEPVGLNYSMFIPTLLNQGTTAQK
  EKWLLSSKGLQIIGTYAQTEMGHGTHLRGLETTATYDPETQEFILNSPTVTSIKWWPGGL
  GKTSNHAIVLAQLITKGKCYGLHAFIVPIREIGTHKPLPGITVGDIGPKFGYDEIDNGYL
  KMDNHRIPRENMLMKYAQVKPDGTYVKPLSNKLTYGTMVFVRSFLVGEAARALSKACTIA
  IRYSAVRHQSEIKPGEPEPQILDFQTQQYKLFPLLATAYAFQFVGAYMKETYHRINEGIG
  QGDLSELPELHALTAGLKAFTSWTANTGIEACRMACGGHGYSHCSGLPNIYVNFTPSCTF
  EGENTVMMLQTARFLMKSYDQVHSGKLVCGMVSYLNDLPSQRIQPQQVAVWPTMVDINSP
  ESLTEAYKLRAARLVEIAAKNLQKEVIHRKSKEVAWNLTSVDLVRASEAHCHYVVVKLFS
  EKLLKIQDKAIQAVLRSLCLLYSLYGISQNAGDFLQGSIMTEPQITQVNQRVKELLTLIR
  SDAVALVDAFDFQDVTLGSVLGRYDGNVYENLFEWAKNSPLNKAEVHESYKHLKSLQSKL
  

• Sequence length: 660