ACOX1
entrez
51
canonical
uniprot
Q15067
canonical
ensembl
ENSG00000161533
resolver
ensp
ENSP00000293217
resolver
ensp
ENSP00000301608
resolver
genesymbol
ACOX1
resolver
genesymbol_syn
ACOX
resolver
hgnc
HGNC:119
resolver
uniprot
A8K6X8
resolver
uniprot
A8KAA0
resolver
uniprot
B4DK61
resolver
uniprot
F5GYQ8
resolver
uniprot
Q12863
resolver
uniprot
Q15068
resolver
uniprot
Q15101
resolver
uniprot
Q16131
resolver
uniprot
Q7Z3W5
resolver
uniprot
Q9UD31
resolver
uniprot_entry
ACOX1_HUMAN
resolver
uniprot_sec
A8K6X8
resolver
uniprot_sec
A8KAA0
resolver
uniprot_sec
B4DK61
resolver
uniprot_sec
F5GYQ8
resolver
uniprot_sec
Q12863
resolver
uniprot_sec
Q15068
resolver
uniprot_sec
Q15101
resolver
uniprot_sec
Q16131
resolver
uniprot_sec
Q7Z3W5
resolver
uniprot_sec
Q9UD31
resolver
amino_acid_sequence
MNPDLRRERDSASFNPELLTHILDGSPEKTRRRREIENMILNDPDFQHEDLNFLTRSQRYEVAVRKSAIMVKKMREFGIADPDEIMWFKKLHLVNFVEPVGLNYSMFIPTLLNQGTTAQKEKWLLSSKGLQIIGTYAQTEMGHGTHLRGLETTATYDPETQEFILNSPTVTSIKWWPGGLGKTSNHAIVLAQLITKGKCYGLHAFIVPIREIGTHKPLPGITVGDIGPKFGYDEIDNGYLKMDNHRIPRENMLMKYAQVKPDGTYVKPLSNKLTYGTMVFVRSFLVGEAARALSKACTIAIRYSAVRHQSEIKPGEPEPQILDFQTQQYKLFPLLATAYAFQFVGAYMKETYHRINEGIGQGDLSELPELHALTAGLKAFTSWTANTGIEACRMACGGHGYSHCSGLPNIYVNFTPSCTFEGENTVMMLQTARFLMKSYDQVHSGKLVCGMVSYLNDLPSQRIQPQQVAVWPTMVDINSPESLTEAYKLRAARLVEIAAKNLQKEVIHRKSKEVAWNLTSVDLVRASEAHCHYVVVKLFSEKLLKIQDKAIQAVLRSLCLLYSLYGISQNAGDFLQGSIMTEPQITQVNQRVKELLTLIRSDAVALVDAFDFQDVTLGSVLGRYDGNVYENLFEWAKNSPLNKAEVHESYKHLKSLQSKL
uniprot
proteins
disease_involvement
DISEASE: 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 intellectual disability, 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:33234382, ECO:0000269|PubMed:8040306}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Mitchell syndrome (MITCH) [MIM:618960]: A disorder characterized by episodic demyelination, sensorimotor polyneuropathy, and sensorineural hearing loss. {ECO:0000269|PubMed:32169171}. Note=The gene represented in this entry is involved in disease pathogenesis.
uniprot
proteins
ec_number
1.3.3.6
uniprot
proteins
function
FUNCTION: Involved in the initial and rate-limiting step of peroxisomal beta-oxidation of straight-chain saturated and unsaturated very-long-chain fatty acids (VLCFAs) (PubMed:15060085, PubMed:17458872, PubMed:17603022, PubMed:32169171, PubMed:33234382, PubMed:7876265). Catalyzes the desaturation of fatty acyl-CoAs that have a saturated bond between C2 and C3 (2,3-saturated acyl-CoA) to 2-trans-enoyl-CoAs ((2E)-enoyl-CoAs), and donates electrons directly to molecular oxygen (O(2)), thereby producing hydrogen peroxide (H(2)O(2)) (PubMed:17458872, PubMed:17603022, PubMed:7876265). May play a role in peroxisomal beta-oxidation step in polyunsaturated fatty acids (PUFAs) biosynthesis. Possibly regulates systemic levels of docosahexaenoic acid (DHA, C22:6n-3) through a process involving endoplasmic reticulum desaturation and elongation of alpha-linolenic acid (ALA, C18:3n-3) to form tetracosahexaenoic acid (THA, C24:6n-3), which is then beta-oxidized to DHA in peroxisomes (Probable). Involved in VLCFA-dependent hepatic-to-adipose tissue inter-organ signaling in response to diet. Through hepatic beta-oxidation of THA, may regulate THA systemic levels and THA-dependent activation of FFAR4 signaling in adipocytes, limiting adipose tissue thermogenesis (By similarity). {ECO:0000250|UniProtKB:Q9R0H0, ECO:0000269|PubMed:15060085, ECO:0000269|PubMed:17458872, ECO:0000269|PubMed:17603022, ECO:0000269|PubMed:32169171, ECO:0000269|PubMed:33234382, ECO:0000269|PubMed:7876265, ECO:0000303|PubMed:10903473, ECO:0000303|PubMed:35951481, ECO:0000303|PubMed:7685190, ECO:0000305|PubMed:11734571, ECO:0000305|PubMed:20195242}.; FUNCTION: [Isoform 1]: Shows highest activity against medium-chain fatty acyl-CoAs. Shows optimum activity with a chain length of 10 carbons (decanoyl-CoA) in vitro. {ECO:0000269|PubMed:17458872, ECO:0000269|PubMed:17603022}.; FUNCTION: [Isoform 2]: Is active against a much broader range of substrates and shows activity towards long-chain and very-long-chain fatty acyl-CoAs. {ECO:0000269|PubMed:17458872, ECO:0000269|PubMed:17603022}.
uniprot
proteins
mass_dalton
74424
uniprot
proteins
pathway_participation
PATHWAY: Lipid metabolism; peroxisomal fatty acid beta-oxidation. {ECO:0000305|PubMed:17458872, ECO:0000305|PubMed:17603022}.
uniprot
proteins
protein_family
Acyl-CoA oxidase family
uniprot
proteins
pubmed
10903473
uniprot
proteins
pubmed
11734571
uniprot
proteins
pubmed
11815777
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15060085
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17458872
uniprot
proteins
pubmed
17603022
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18281296
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
20195242
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
32169171
uniprot
proteins
pubmed
33234382
uniprot
proteins
pubmed
35951481
uniprot
proteins
pubmed
7685190
uniprot
proteins
pubmed
7876265
uniprot
proteins
pubmed
8040306
uniprot
proteins
pubmed
8117268
uniprot
proteins
pubmed
8159712
uniprot
proteins
sequence_length
660
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Peroxisome {ECO:0000269|PubMed:32169171}.
uniprot
proteins