Gene Gene information from NCBI Gene database.
Entrez ID 51
Gene name Acyl-CoA oxidase 1
Gene symbol ACOX1
Synonyms (NCBI Gene)
ACOXAOXMITCHPALMCOXSCOX
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. Def
SNPs SNP information provided by dbSNP.
9
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
miRNA miRNA information provided by mirtarbase database.
806
miRTarBase ID miRNA Experiments Reference
MIRT040279 hsa-miR-615-3p CLASH 23622248
MIRT037792 hsa-miR-92b-5p CLASH 23622248
MIRT719094 hsa-miR-106a-5p HITS-CLIP 19536157
MIRT719093 hsa-miR-106b-5p HITS-CLIP 19536157
MIRT719092 hsa-miR-17-5p HITS-CLIP 19536157
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
PPARA Unknown 20110263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
56
GO ID Ontology Definition Evidence Reference
GO:0000038 Process Very long-chain fatty acid metabolic process IBA
GO:0000038 Process Very long-chain fatty acid metabolic process IMP 18536048
GO:0003997 Function Acyl-CoA oxidase activity IDA 8117268
GO:0003997 Function Acyl-CoA oxidase activity IEA
GO:0003997 Function Acyl-CoA oxidase activity IGI 17458872
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609751 119 ENSG00000161533
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15067
Protein name Peroxisomal acyl-coenzyme A oxidase 1 (AOX) (EC 1.3.3.6) (Palmitoyl-CoA oxidase) (Peroxisomal fatty acyl-CoA oxidase) (Straight-chain acyl-CoA oxidase) (SCOX) [Cleaved into: Peroxisomal acyl-CoA oxidase 1, A chain; Peroxisomal acyl-CoA oxidase 1, B chain;
Protein function Involved in the initial and rate-limiting step of peroxisomal beta-oxidation of straight-chain saturated and unsaturated very-long-chain fatty acids (PubMed:15060085, PubMed:17458872, PubMed:17603022, PubMed:32169171, PubMed:33234382, PubMed:787
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
Tissue specificity TISSUE SPECIFICITY: Widely expressed with highest levels of isoform 1 and isoform 2 detected in testis. Isoform 1 is expressed at higher levels than isoform 2 in liver and kidney while isoform 2 levels are higher in brain, lung, muscle, white adipose tiss
Sequence
Sequence length 660
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
890
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ACOX1-related disorder Likely pathogenic; Pathogenic rs1567876984 RCV001731902
Acyl-CoA oxidase deficiency Pathogenic; Likely pathogenic rs2065876254, rs747192384, rs773710550, rs2144237287, rs542410903, rs1332660959, rs1338953985, rs2144330766, rs2144242585, rs2144240988, rs118204090, rs118204091, rs118204092, rs118204093, rs387906248
View all (37 more)
RCV001332371
RCV001389366
RCV001844331
RCV001968888
RCV001975129
RCV001975220
RCV001903077
RCV001995770
RCV002016830
RCV001956370
RCV000001564
RCV000001565
RCV000001566
RCV000001567
RCV000001568
RCV002249225
RCV002254400
RCV003041325
RCV002710560
RCV000190564
RCV002834479
RCV002886386
RCV002912489
RCV002949078
RCV003031607
RCV003042183
RCV003159538
RCV003228206
RCV003495343
RCV003600465
RCV003486001
RCV003496143
RCV003495487
RCV003495462
RCV003496318
RCV003496506
RCV003495571
RCV003494755
RCV003496046
RCV003601603
RCV003602277
RCV003600173
RCV003835471
RCV005254913
RCV000702067
RCV002249428
RCV000812952
RCV000991404
RCV001068094
RCV001057444
RCV001210719
RCV001250417
RCV001255151
Gastric cancer Likely pathogenic rs772934120 RCV005871180
Mitchell syndrome Likely pathogenic; Pathogenic rs747192384, rs1332660959, rs2144242585, rs118204093, rs536723496, rs769644289, rs2546097855, rs2546097846, rs2546077877, rs2546083691, rs1261914662, rs761511141, rs2546079927, rs369533136, rs772934120
View all (9 more)
RCV003473992
RCV003475255
RCV003475287
RCV005016222
RCV003475314
RCV003475498
RCV003475415
RCV005019566
RCV003474445
RCV003474449
RCV003474451
RCV003474452
RCV003474455
RCV003474458
RCV003474460
RCV003474463
RCV003474472
RCV004575443
RCV004575447
RCV004575448
RCV003472236
RCV001250273
RCV003472417
RCV003462568
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Likely benign rs3744032, rs7217955, rs7219716 RCV005914910
RCV005915365
RCV005925274
Adrenocortical carcinoma, hereditary Benign; Likely benign rs35629489 RCV005892660
Cervical cancer Benign; Likely benign rs28715841, rs7219716, rs35629489 RCV005921599
RCV005925276
RCV005892661
Cholangiocarcinoma Benign rs12051891, rs7217955, rs28715841 RCV005914909
RCV005915368
RCV005921601
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Ataxia Associate 37846133
Autoimmune Diseases Associate 37846133
Blindness Associate 37846133
Breast Neoplasms Associate 25751270, 26334757
Carcinogenesis Associate 31401980
Carcinoma Hepatocellular Associate 34763625, 34981667
Carcinoma Lobular Associate 28124996
Carcinoma Renal Cell Associate 32434419, 37033923
Cerebral Palsy Associate 23695280
Colonic Neoplasms Associate 37543674, 38179743