Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51
Gene name Gene Name - the full gene name approved by the HGNC.
Acyl-CoA oxidase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ACOX1
Synonyms (NCBI Gene) Gene synonyms aliases
ACOX, AOX, MITCH, PALMCOX, SCOX
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MITCH
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q25.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 factor Regulation Reference
PPARA Unknown 20110263
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609751 119 ENSG00000161533
Protein
UniProt ID 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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Fatty acid degradation
beta-Alanine metabolism
alpha-Linolenic acid metabolism
Propanoate metabolism
Biosynthesis of unsaturated fatty acids
Metabolic pathways
Carbon metabolism
Fatty acid metabolism
PPAR signaling pathway
cAMP signaling pathway
Peroxisome
Alcoholic liver disease
  PPARA activates gene expression
alpha-linolenic acid (ALA) metabolism
Beta-oxidation of very long chain fatty acids
Peroxisomal protein import
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Developmental regression Developmental regression rs1224421127
Hearing loss Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Mental retardation Severe intellectual disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Unknown
Disease term Disease name Evidence References Source
Alzheimer disease Alzheimer disease GWAS
Associations from Text Mining
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