ACOXL

gene
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Also known as FLJ11042ACOX4

Summary

ACOXL (acyl-CoA oxidase like, HGNC:25621) is a protein-coding gene on chromosome 2q13, encoding Acyl-coenzyme A oxidase-like protein (Q9NUZ1).

Predicted to enable acyl-CoA oxidase activity; fatty acid binding activity; and flavin adenine dinucleotide binding activity. Predicted to be involved in fatty acid beta-oxidation using acyl-CoA oxidase. Predicted to be located in peroxisomal matrix. Predicted to be active in peroxisome.

Source: NCBI Gene 55289 — RefSeq curated summary.

At a glance

  • GWAS associations: 92
  • Clinical variants (ClinVar): 158 total — 15 pathogenic, 6 likely-pathogenic
  • MANE Select transcript: NM_001142807

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:25621
Approved symbolACOXL
Nameacyl-CoA oxidase like
Location2q13
Locus typegene with protein product
StatusApproved
AliasesFLJ11042, ACOX4
Ensembl geneENSG00000153093
Ensembl biotypeprotein_coding
Entrez55289

Gene structure

Transcript identifiers

Ensembl transcripts: 29 — 26 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000340561, ENST00000389811, ENST00000417074, ENST00000433706, ENST00000439055, ENST00000441974, ENST00000443586, ENST00000448863, ENST00000461340, ENST00000496981, ENST00000676595, ENST00000903107, ENST00000930157, ENST00000930158, ENST00000930159, ENST00000930160, ENST00000930161, ENST00000930162, ENST00000930163, ENST00000930164, ENST00000957114, ENST00000957115, ENST00000957116, ENST00000957117, ENST00000957118, ENST00000957119, ENST00000957120, ENST00000957121, ENST00000957122

RefSeq mRNA: 3 — MANE Select: NM_001142807 NM_001142807, NM_001365487, NM_001371254

CCDS: CCDS42730, CCDS46389, CCDS92841

Canonical transcript exons

ENST00000439055 — 18 exons

ExonStartEnd
ENSE00001008795110987108110987217
ENSE00001008796110933489110933642
ENSE00001008797110841371110841405
ENSE00001008799110995893110996004
ENSE00001008800111031627111031714
ENSE00001008801110805263110805395
ENSE00001008805110908789110908905
ENSE00001146517110801652110801724
ENSE00001514654110732573110732774
ENSE00001693594110799014110799100
ENSE00002444491110798610110798724
ENSE00002450006110794076110794174
ENSE00002470533110784732110784815
ENSE00002519011110793650110793736
ENSE00002708869110768368110768464
ENSE00003495323111092865111092966
ENSE00003541999111049218111049288
ENSE00003905097111117616111118548

Expression profiles

Bgee: expression breadth ubiquitous, 168 present calls, max score 82.58.

FANTOM5 (CAGE): breadth broad, TPM avg 0.7201 / max 47.5041, expressed in 190 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter IDTPM avgSamples expressed
219350.5531146
219340.068540
219370.050329
2023410.025618
219380.022619

Top tissues by expression

275 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099182.58gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047381.33gold quality
buccal mucosa cellCL:000233678.40gold quality
upper lobe of left lungUBERON:000895273.81gold quality
upper lobe of lungUBERON:000894873.78gold quality
visceral pleuraUBERON:000240173.43gold quality
lower lobe of lungUBERON:000894972.68silver quality
apex of heartUBERON:000209871.28gold quality
right lungUBERON:000216770.83gold quality
left testisUBERON:000453370.77gold quality
right testisUBERON:000453470.77gold quality
lungUBERON:000204869.90gold quality
testisUBERON:000047368.88gold quality
urinary bladderUBERON:000125568.80gold quality
secondary oocyteCL:000065568.62gold quality
mucosa of stomachUBERON:000119967.82gold quality
gastrocnemiusUBERON:000138867.71gold quality
muscle of legUBERON:000138366.47gold quality
right coronary arteryUBERON:000162566.37gold quality
tibial arteryUBERON:000761065.44gold quality
popliteal arteryUBERON:000225065.43gold quality
prostate glandUBERON:000236765.29gold quality
cauda epididymisUBERON:000436065.25gold quality
right atrium auricular regionUBERON:000663164.82gold quality
stromal cell of endometriumCL:000225564.31gold quality
corpus epididymisUBERON:000435963.84gold quality
olfactory segment of nasal mucosaUBERON:000538663.67gold quality
bone marrow cellCL:000209263.60silver quality
esophagogastric junction muscularis propriaUBERON:003584163.29gold quality
cardiac atriumUBERON:000208163.28gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes16.28
E-ENAD-27no27.18

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

  • The study identified two proteins, TMEM79 and ACOXL, with potential to differentiate between benign and cancerous prostatic glands in tissue biopsies. (PMID:26237329)

Cross-species orthologs

11 orthologs

OrganismSymbolGene ID
danio_rerioacoxlENSDARG00000020149
mus_musculusAcoxlENSMUSG00000027380
rattus_norvegicusAcoxlENSRNOG00000016179
caenorhabditis_elegansacox-1.1WBGENE00008564
caenorhabditis_elegansacox-1.2WBGENE00008565
caenorhabditis_elegansacox-1.3WBGENE00008566
caenorhabditis_elegansacox-1.4WBGENE00008567
caenorhabditis_elegansWBGENE00015894
caenorhabditis_elegansacdh-1WBGENE00016943
caenorhabditis_elegansWBGENE00019406
caenorhabditis_elegansWBGENE00020366

Paralogs (14): ACADVL (ENSG00000072778), ACOX3 (ENSG00000087008), GCDH (ENSG00000105607), ACAD10 (ENSG00000111271), ACADL (ENSG00000115361), ACADM (ENSG00000117054), ACADS (ENSG00000122971), IVD (ENSG00000128928), ACAD8 (ENSG00000151498), ACOX1 (ENSG00000161533), ACOX2 (ENSG00000168306), ACAD9 (ENSG00000177646), ACADSB (ENSG00000196177), ACAD11 (ENSG00000240303)

Protein

Protein identifiers

Acyl-coenzyme A oxidase-like proteinQ9NUZ1 (reviewed: Q9NUZ1)

All UniProt accessions (7): Q9NUZ1, A0A0C4DG10, A0A7I2V3X2, C9JQI3, H7C0A6, H7C2M3, H7C345

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the acyl-CoA oxidase family.

Isoforms (4)

UniProt IDNamesCanonical?
Q9NUZ1-11yes
Q9NUZ1-22
Q9NUZ1-33
Q9NUZ1-44

RefSeq proteins (3): NP_001136279, NP_001352416, NP_001358183 (=MANE)

Domains & families (InterPro)

IDNameType
IPR002655Acyl-CoA_oxidase_CDomain
IPR006091AcylCoA_DH/ox_MDomain
IPR009100AcylCoA_DH/oxidase_NM_dom_sfHomologous_superfamily
IPR012258Acyl-CoA_oxidaseFamily
IPR036250AcylCo_DH-like_CHomologous_superfamily
IPR046373Acyl-CoA_Oxase/DH_mid-dom_sfHomologous_superfamily
IPR055060ACOX_C_alpha1Domain

Pfam: PF01756, PF02770, PF22924

UniProt features (10 total): splice variant 4, sequence variant 2, sequence conflict 2, chain 1, binding site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9NUZ1-F192.000.79

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (1): 350–355

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

IDPathway
R-HSA-389887Beta-oxidation of pristanoyl-CoA
R-HSA-1430728Metabolism
R-HSA-390918Peroxisomal lipid metabolism
R-HSA-556833Metabolism of lipids
R-HSA-8978868Fatty acid metabolism

MSigDB gene sets: 103 (showing top): GSE45365_NK_CELL_VS_CD8_TCELL_DN, GOBP_LIPID_MODIFICATION, GOBP_FATTY_ACID_CATABOLIC_PROCESS, RORA1_01, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_CH_GROUP_OF_DONORS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_FATTY_ACID_BETA_OXIDATION_USING_ACYL_COA_OXIDASE, GOBP_ORGANIC_ACID_CATABOLIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, GOBP_SMALL_MOLECULE_CATABOLIC_PROCESS, AACTTT_UNKNOWN, GOBP_MONOCARBOXYLIC_ACID_CATABOLIC_PROCESS, GOBP_LIPID_CATABOLIC_PROCESS, GOBP_LIPID_OXIDATION

GO Biological Process (4): fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540), fatty acid metabolic process (GO:0006631), fatty acid beta-oxidation (GO:0006635), biological_process (GO:0008150)

GO Molecular Function (7): acyl-CoA oxidase activity (GO:0003997), fatty acid binding (GO:0005504), flavin adenine dinucleotide binding (GO:0050660), FAD binding (GO:0071949), molecular_function (GO:0003674), oxidoreductase activity (GO:0016491), oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)

GO Cellular Component (3): peroxisome (GO:0005777), peroxisomal matrix (GO:0005782), cellular_component (GO:0005575)

Reactome top-level categories

Rollup of top-4 pathways:

CategoryPathways
Peroxisomal lipid metabolism1
Fatty acid metabolism1
Metabolism1
Metabolism of lipids1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
fatty acid beta-oxidation1
lipid metabolic process1
monocarboxylic acid metabolic process1
fatty acid catabolic process1
fatty acid ligase activity1
fatty acid oxidation1
oxidoreductase activity, acting on the CH-CH group of donors, oxygen as acceptor1
lipid binding1
monocarboxylic acid binding1
nucleotide binding1
anion binding1
flavin adenine dinucleotide binding1
catalytic activity1
oxidoreductase activity1
microbody1
peroxisome1
microbody lumen1

Protein interactions and networks

STRING

1856 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
ACOXLTMEM87BQ96K49503
ACOXLANAPC1Q9H1A4466
ACOXLCFAP299Q6V702464
ACOXLZC3H6P61129451
ACOXLC11orf21Q9P2W6447
ACOXLSP140Q13342418
ACOXLLRRC32Q14392396
ACOXLPPARAQ07869394
ACOXLFBLN7Q53RD9393
ACOXLACACAQ13085390
ACOXLPPARGP37231379
ACOXLFASNP49327379
ACOXLZC3H8Q8N5P1365
ACOXLACSL3O95573364
ACOXLBCL2L11O43521364

IntAct

2 interactions, top by confidence:

ABTypeScore
CUL1LGALS8psi-mi:“MI:0914”(association)0.350

BioGRID (3): ACOXL (Synthetic Lethality), ACOXL (Affinity Capture-MS), ACOXL (Affinity Capture-MS)

ESM2 similar proteins: B1H369, O00764, O35331, O35969, O80526, O95045, P10867, P10868, P11172, P33124, P50554, P58710, P61922, P80404, P81799, Q05B63, Q15124, Q28DS0, Q2KIG0, Q2QNG7, Q2QZ86, Q3SZM9, Q3T067, Q3U129, Q3ZC33, Q4R4U1, Q5I0K3, Q5R5C9, Q5R5F8, Q5RFI8, Q5ZID6, Q6AY30, Q7SXM0, Q8BZF8, Q8HXW0, Q8K183, Q8N0X4, Q8NBX0, Q8R127, Q8R4N0

Diamond homologs: O02767, O15254, O62137, O62138, O62139, O62140, O64894, O65201, O65202, O74934, O74935, O74936, P07872, P34355, P97562, Q15067, Q3SZP5, Q54GQ6, Q5RAU0, Q5RC19, Q63448, Q6FY63, Q7KML2, Q8HYL8, Q99424, Q9EPL9, Q9NUZ1, Q9QXD1, Q9R0H0, Q9Z1N0, Q9ZQP2, P0CZ23, Q20992, Q756A9, Q9DBS4, Q9LMI7, P06598, P08790, Q6BRD5, Q8HXX8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

158 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic15
Likely pathogenic6
Uncertain significance111
Likely benign9
Benign0

Top pathogenic / likely-pathogenic (21)

Variant IDHGVSClassification
149662GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3Pathogenic
1705942GRCh37/hg19 2q13(chr2:111365995-113199850)x3Pathogenic
219044GRCh37/hg19 2q13(chr2:111398336-113101220)x1Pathogenic
252968GRCh37/hg19 2q13(chr2:111392259-113094793)x1Pathogenic
253388GRCh37/hg19 2q12.3-14.3(chr2:109798247-125658380)x1Pathogenic
253673GRCh37/hg19 2q12.2-14.1(chr2:106423310-115054828)x1Pathogenic
3062651GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1Pathogenic
3242293GRCh37/hg19 2q13(chr2:111394609-112009912)x1Pathogenic
562655GRCh37/hg19 2q13(chr2:110980294-113137529)x1Pathogenic
562679GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3Pathogenic
625548GRCh37/hg19 2q13(chr2:111395351-113102594)Pathogenic
686485GRCh37/hg19 2q13(chr2:111382460-113137975)x3Pathogenic
686865GRCh37/hg19 2q13(chr2:111382460-113115979)x3Pathogenic
687786GRCh37/hg19 2q13(chr2:111388619-113199850)x3Pathogenic
688671GRCh37/hg19 2q13(chr2:111388619-113137529)x3Pathogenic
151397GRCh38/hg38 2q13-14.1(chr2:110684553-112344958)x1Likely pathogenic
1808613GRCh37/hg19 2q13(chr2:111397786-113111856)x3Likely pathogenic
1808680GRCh37/hg19 2q13(chr2:111365996-113111856)x3Likely pathogenic
223093NC_000002.12:g.(?110649261)(112345017_?)delLikely pathogenic
560135Single alleleLikely pathogenic
625831GRCh37/hg19 2q13(chr2:111395603-113251000)Likely pathogenic

SpliceAI

4740 predictions. Top by Δscore:

VariantEffectΔscore
2:110768362:TCACA:Tacceptor_loss1.0000
2:110768363:CACA:Cacceptor_loss1.0000
2:110768365:CAG:Cacceptor_loss1.0000
2:110768366:AGG:Aacceptor_loss1.0000
2:110768463:TGGTA:Tdonor_loss1.0000
2:110768465:G:GGdonor_gain1.0000
2:110768465:GT:Gdonor_loss1.0000
2:110793644:TTCCA:Tacceptor_loss1.0000
2:110793645:TCCA:Tacceptor_loss1.0000
2:110793646:CCA:Cacceptor_loss1.0000
2:110793647:CA:Cacceptor_loss1.0000
2:110793648:A:AGacceptor_gain1.0000
2:110793648:AGTGC:Aacceptor_gain1.0000
2:110793649:G:GAacceptor_gain1.0000
2:110793649:GT:Gacceptor_gain1.0000
2:110793649:GTGC:Gacceptor_gain1.0000
2:110793649:GTGCG:Gacceptor_gain1.0000
2:110793732:TCCAG:Tdonor_loss1.0000
2:110793733:CCAG:Cdonor_loss1.0000
2:110793734:CAG:Cdonor_loss1.0000
2:110793735:AGGTA:Adonor_loss1.0000
2:110793736:GG:Gdonor_loss1.0000
2:110793737:GT:Gdonor_loss1.0000
2:110793738:T:Adonor_loss1.0000
2:110794060:ATCT:Aacceptor_gain1.0000
2:110798609:GGA:Gacceptor_gain1.0000
2:110798713:G:GTdonor_gain1.0000
2:110798720:TCAAG:Tdonor_loss1.0000
2:110798721:CAAG:Cdonor_loss1.0000
2:110798722:AAGGT:Adonor_loss1.0000

AlphaMissense

3799 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
2:110799032:T:AV160D0.987
2:110794097:T:CF90L0.983
2:110794099:T:AF90L0.983
2:110794099:T:GF90L0.983
2:110798613:T:CF117L0.982
2:110798615:T:AF117L0.982
2:110798615:T:GF117L0.982
2:110908799:T:CF267L0.979
2:110908801:T:AF267L0.979
2:110908801:T:GF267L0.979
2:110799096:G:CK181N0.978
2:110799096:G:TK181N0.978
2:110793671:T:CF61L0.975
2:110793673:T:AF61L0.975
2:110793673:T:GF61L0.975
2:110799041:G:CR163P0.973
2:110801700:T:AI199K0.973
2:110798691:T:CF143L0.969
2:110798693:T:AF143L0.969
2:110798693:T:GF143L0.969
2:110798682:G:CA140P0.968
2:110794151:G:CA108P0.967
2:110794110:A:TE94V0.966
2:110805324:T:CF228L0.965
2:110805326:C:AF228L0.965
2:110805326:C:GF228L0.965
2:110793696:G:AG69E0.963
2:110801684:T:CF194L0.959
2:110801686:T:AF194L0.959
2:110801686:T:GF194L0.959

dbSNP variants (sampled 300 via entrez): RS1000011218 (2:111019897 A>G), RS1000011771 (2:111100043 A>T), RS1000013537 (2:111036268 A>G), RS1000017590 (2:111099129 A>G), RS1000017799 (2:110876546 A>G), RS1000027810 (2:110907265 G>A,T), RS1000028159 (2:111088626 A>G,T), RS1000030538 (2:110732428 C>G), RS1000038969 (2:110960493 A>T), RS1000045769 (2:110754034 G>A), RS1000051414 (2:110883482 G>A,C), RS1000059422 (2:110844926 T>C), RS1000070769 (2:110844704 C>A,T), RS1000071385 (2:110968975 T>C), RS1000071924 (2:111010956 C>T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

92 associations (top):

StudyTraitp-value
GCST000224_2Chronic lymphocytic leukemia2.000000e-10
GCST001134_10White blood cell types4.000000e-07
GCST001364_7IgA nephropathy4.000000e-07
GCST001515_15Economic and political preferences (immigration/crime)4.000000e-06
GCST001765_39Red blood cell traits4.000000e-11
GCST002073_11Chronic lymphocytic leukemia4.000000e-17
GCST002073_9Chronic lymphocytic leukemia2.000000e-18
GCST002299_7Chronic lymphocytic leukemia5.000000e-15
GCST002318_128Rheumatoid arthritis9.000000e-09
GCST002318_2Rheumatoid arthritis3.000000e-08
GCST002415_12Colorectal cancer (diet interaction)1.000000e-06
GCST003025_20Attention function in attention deficit hyperactive disorder3.000000e-07
GCST003025_9Attention function in attention deficit hyperactive disorder2.000000e-06
GCST003468_2Chronic lymphocytic leukemia5.000000e-20
GCST004146_2Chronic lymphocytic leukemia2.000000e-27
GCST004601_28Red blood cell count8.000000e-20
GCST004601_29Red blood cell count3.000000e-15
GCST004602_90Mean corpuscular volume8.000000e-25
GCST004602_91Mean corpuscular volume2.000000e-27
GCST004608_55Granulocyte percentage of myeloid white cells5.000000e-25
GCST004608_56Granulocyte percentage of myeloid white cells1.000000e-21
GCST004608_57Granulocyte percentage of myeloid white cells9.000000e-24
GCST004609_141Monocyte percentage of white cells1.000000e-31
GCST004609_142Monocyte percentage of white cells3.000000e-25
GCST004609_143Monocyte percentage of white cells2.000000e-21
GCST004625_49Monocyte count7.000000e-20
GCST004625_50Monocyte count3.000000e-27
GCST004625_51Monocyte count1.000000e-18
GCST004627_79Lymphocyte count1.000000e-19
GCST004627_80Lymphocyte count4.000000e-11

EFO canonical traits (28, from GWAS)

EFO IDTrait name
EFO:0005091monocyte count
EFO:0004827economic and social preference
EFO:0008111diet measurement
EFO:0007636attention function measurement
EFO:0004305erythrocyte count
EFO:0007997granulocyte percentage of myeloid white cells
EFO:0007989monocyte percentage of leukocytes
EFO:0004587lymphocyte count
EFO:0004527mean corpuscular hemoglobin
EFO:0007993lymphocyte percentage of leukocytes
EFO:0007990neutrophil percentage of leukocytes
EFO:0005128albumin:globulin ratio measurement
EFO:0006336diastolic blood pressure
EFO:0006527smoking status measurement
EFO:0004612high density lipoprotein cholesterol measurement
EFO:0004574total cholesterol measurement
EFO:0008039BMI-adjusted hip circumference
EFO:0007778urinary albumin to creatinine ratio
EFO:0010355diacylglycerol 36:2 measurement
EFO:0010411triacylglycerol 50:4 measurement
EFO:0006939cup-to-disc ratio measurement
EFO:0004614apolipoprotein A 1 measurement
EFO:0007789BMI-adjusted waist circumference
EFO:0007991eosinophil percentage of leukocytes
EFO:0004528mean corpuscular hemoglobin concentration
EFO:0010701mean reticulocyte volume
EFO:0007984platelet component distribution width
EFO:0009188Red cell distribution width

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB variants

4 variants.

VariantGenesLevelScore#Clin annotsDrugs
rs73954926ACOXL, BCL2L110.000
rs72836346ACOXL, BCL2L110.000
rs7582030ACOXL, BCL2L110.000
rs72836345ACOXL, BCL2L110.000

CTD chemical–gene interactions

15 total (human), top 15 by PubMed support.

ChemicalActions (top 5)PubMed papers
entinostatincreases expression, affects cotreatment2
Benzo(a)pyrenedecreases methylation, affects methylation, decreases expression2
Aflatoxin B1decreases methylation, increases methylation2
methylmercuric chlorideincreases expression1
CGP 52608affects binding, increases reaction1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, increases expression1
dorsomorphinaffects cotreatment, increases expression1
Acetaminophenincreases expression1
Arsenicaffects methylation1
Cadmiumdecreases expression, decreases reaction1
Methyl Methanesulfonatedecreases expression1
Seleniumdecreases expression, decreases reaction1
Smokedecreases expression1
Valproic Acidincreases expression1
Cyclosporineincreases methylation1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.