• Gene id: 51

Gene Summary

• Gene Symbol: ACOX1   Gene   UCSC   Ensembl
• Aliases: ACOX, PALMCOX, SCOX
• Gene name: acyl-CoA oxidase 1
• Alternate names: peroxisomal acyl-coenzyme A oxidase 1, AOX, acyl-CoA oxidase 1, palmitoyl, acyl-CoA oxidase, straight-chain, acyl-Coenzyme A oxidase 1, palmitoyl, palmitoyl-CoA oxidase, peroxisomal fatty acyl-CoA oxidase, straight-chain acyl-CoA oxidase,
• Gene location: 17q25.1 (75979198: 75941506)     Exons: 15     NC_000017.11
• Gene summary(Entrez): 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
• OMIM: 605263

SNPs

rs886039769

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.124500686G>A
NC_000009.11   g.127262965G>A
NG_008176.1   g.11735C>T
NM_004959.5   c.274C>T
NM_004959.4   c.274C>T
NP_004950.2   p.Arg92Trp|SEQ=[G/A]|GENE=NR5A1

rs587777044

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000003.12   g.50343331dup
NC_000003.11   g.50380762dup
NG_023270.1   g.2606dup
NG_042828.1   g.7416dup
NM_015896.4   c.486dup
NM_015896.3   c.486dup
NM_015896.2   c.486dup
NM_001308379.2   c.486dup
NM_001308379.1   c.486dup
XM_005265216.3   c.249dup
XM_005265216.1   c.

rs587777043

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000003.12   g.50343753del
NC_000003.11   g.50381184del
NG_023270.1   g.2185del
NG_042828.1   g.6995del
NM_015896.4   c.300del
NM_015896.3   c.300del
NM_015896.2   c.300del
NM_001308379.2   c.300del
NM_001308379.1   c.300del
XM_005265216.3   c.63del
XM_005265216.1   c.6

rs397515460

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.50342047G>A
NC_000003.11   g.50379478G>A
NG_023270.1   g.3890C>T
NG_042828.1   g.8700C>T
NM_015896.4   c.967C>T
NM_015896.3   c.967C>T
NM_015896.2   c.967C>T
NM_001308379.2   c.952C>T
NM_001308379.1   c.952C>T
XM_005265216.3   c.730C>T
XM_005265216.1   c.

rs397515341

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000014.9   g.49633937_49633952dup
NC_000014.8   g.50100655_50100670dup
NG_013070.1   g.6280_6295dup
NM_018139.2   c.1199_1214dup
NM_001083908.1   c.1199_1214dup
NP_060609.2   p.Gly406fs
NP_001077377.1   p.Gly406fs|SEQ=[GCCACGCAGGTATCGTG/GCCACGCAGGTATCGTGCCACGCA

rs387906690

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.124500568G>A
NC_000009.11   g.127262847G>A
NG_008176.1   g.11853C>T
NM_004959.5   c.392C>T
NM_004959.4   c.392C>T
NP_004950.2   p.Pro131Leu|SEQ=[G/A]|GENE=NR5A1

rs201095702

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.124500326C>T
NC_000009.11   g.127262605C>T
NG_008176.1   g.12095G>A
NM_004959.5   c.634G>A
NM_004959.4   c.634G>A
NP_004950.2   p.Gly212Ser|SEQ=[C/T]|GENE=NR5A1

rs200913791

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.50342473A>G
NC_000003.11   g.50379904A>G
NG_023270.1   g.3464T>C
NG_042828.1   g.8274T>C
NM_015896.4   c.797T>C
NM_015896.3   c.797T>C
NM_015896.2   c.797T>C
NM_001308379.2   c.782T>C
NM_001308379.1   c.782T>C
XM_005265216.3   c.560T>C
XM_005265216.1   c.

rs200163795

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.124500592C>G
NC_000009.12   g.124500592C>T
NC_000009.11   g.127262871C>G
NC_000009.11   g.127262871C>T
NG_008176.1   g.11829G>C
NG_008176.1   g.11829G>A
NM_004959.5   c.368G>C
NM_004959.5   c.368G>A
NM_004959.4   c.368G>C
NM_004959.4   c.368G>A
NP_00495  

rs138815960

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.50345533A>C
NC_000003.11   g.50382964A>C
NG_023270.1   g.404T>G
NG_042828.1   g.5214T>G
NM_015896.4   c.47T>G
NM_015896.3   c.47T>G
NM_015896.2   c.47T>G
NM_001308379.2   c.47T>G
NM_001308379.1   c.47T>G
XM_005265216.3   c.-82T>G
XM_005265216.1   c.-82T>G

rs137853191

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.49635127G>A
NC_000014.9   g.49635127G>C
NC_000014.9   g.49635127G>T
NC_000014.8   g.50101845G>A
NC_000014.8   g.50101845G>C
NC_000014.8   g.50101845G>T
NG_013070.1   g.5104C>T
NG_013070.1   g.5104C>G
NG_013070.1   g.5104C>A
NM_018139.2   c.23C>T
NM_01813  

rs121918300

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.37888306T>A
NC_000007.14   g.37888306T>C
NC_000007.13   g.37927908T>A
NC_000007.13   g.37927908T>C
NG_015893.1   g.44710T>A
NG_015893.1   g.44710T>C
NM_016616.4   c.1277T>A
NM_016616.4   c.1277T>C
NM_016616.5   c.1277T>A
NM_016616.5   c.1277T>C
NP_05770  

rs117149381

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.37862001C>T
NC_000007.13   g.37901603C>T
NG_015893.1   g.18405C>T|SEQ=[C/T]|GENE=NME8

rs13017562

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.28492063G>A
NC_000002.12   g.28492063G>C
NC_000002.11   g.28714930G>A
NC_000002.11   g.28714930G>C
NG_051297.1   g.8485G>A
NG_051297.1   g.8485G>C|SEQ=[G/A/C]|GENE=PLB1

rs11144790

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.76197556G>A
NC_000009.11   g.78812472G>A
NG_029445.1   g.311913G>A|SEQ=[G/A]|GENE=PCSK5

rs11135484

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.96886185A>G
NC_000005.9   g.96221889A>G
NG_027839.2   g.54799T>C
NG_051092.1   g.15247A>G|SEQ=[A/G]|GENE=ERAP1
ERAP2   64167

rs11135482

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.96885722G>A
NC_000005.9   g.96221426G>A
NG_027839.2   g.55262C>T
NG_051092.1   g.14784G>A|SEQ=[G/A]|GENE=ERAP1
ERAP2   64167

rs6476866

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.4459274G>A
NC_000009.12   g.4459274G>C
NC_000009.11   g.4459274G>A
NC_000009.11   g.4459274G>C|SEQ=[G/A/C]

rs3791185

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.107058247G>A
NC_000001.10   g.107600869G>A
NM_018137.2   c.*404G>A
NM_018137.3   c.*404G>A|SEQ=[G/A]|GENE=PRMT6

rs2287498

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.7689242C>T
NC_000017.10   g.7592560C>T
NG_017013.2   g.3309G>A
NG_028245.1   g.8172C>T
NM_018081.2   c.450C>T
NM_001143991.2   c.450C>T
NM_001143991.1   c.450C>T
NM_001143992.2   c.450C>T
NM_001143992.1   c.450C>T
NM_001143990.1   c.450C>T
XR_001752551.  

rs2232015

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.107056636A>G
NC_000001.11   g.107056636A>T
NC_000001.10   g.107599258A>G
NC_000001.10   g.107599258A>T|SEQ=[A/G/T]|GENE=PRMT6

rs1129332

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.2404771C>T
NC_000001.10   g.2336210C>T
NG_016128.1   g.17997C>T
NM_007033.5   c.*1647C>T
NM_007033.4   c.*1647C>T
NG_008342.1   g.12801G>A
NM_002617.4   c.*995G>A
NM_153818.2   c.*995G>A
NM_001374426.1   c.*995G>A
NM_001374427.1   c.*995G>A
NM_001374425  

rs1110061

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.124500523C>A
NC_000009.12   g.124500523C>G
NC_000009.11   g.127262802C>A
NC_000009.11   g.127262802C>G
NG_008176.1   g.11898G>T
NG_008176.1   g.11898G>C
NM_004959.5   c.437G>T
NM_004959.5   c.437G>C
NM_004959.4   c.437G>T
NM_004959.4   c.437G>C
NP_00495  

rs222859

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.7294475C>A
NC_000017.10   g.7197794C>A
NM_015982.4   c.26G>T
NM_015982.3   c.26G>T
XM_017024713.2   c.26G>T
NP_057066.2   p.Gly9Val
XP_016880202.1   p.Gly9Val|SEQ=[C/A]|GENE=YBX2

rs215702

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.32360046G>A
NC_000007.13   g.32399658G>A
NG_051183.1   g.73179C>T|SEQ=[G/A]|GENE=PDE1C

rs173665

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.8302030G>A
NC_000019.9   g.8366914G>A
NG_028124.1   g.11327C>T|SEQ=[G/A]|GENE=CD320

rs2855658

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.38069747T>C
NC_000002.11   g.38296890T>C
NG_008386.2   g.11355A>G
NM_000104.3   c.*975A>G|SEQ=[T/C]|GENE=CYP1B1
RMDN2   151393

rs2032278

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000018.10   g.77572081A>G
NC_000018.10   g.77572081A>T
NC_000018.9   g.75284037A>G
NC_000018.9   g.75284037A>T|SEQ=[A/G/T]|GENE=LOC107985172

rs750682280

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.124500658C>T
NC_000009.11   g.127262937C>T
NG_008176.1   g.11763G>A
NM_004959.5   c.302G>A
NM_004959.4   c.302G>A
NP_004950.2   p.Arg101Gln|SEQ=[C/T]|GENE=NR5A1

rs1801133

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.11796321G>A
NC_000001.11   g.11796321G>C
NC_000001.10   g.11856378G>A
NC_000001.10   g.11856378G>C
NG_013351.1   g.14783C>T
NG_013351.1   g.14783C>G
NM_005957.5   c.665C>T
NM_005957.5   c.665C>G
NM_005957.4   c.665C>T
NM_005957.4   c.665C>G
NM_001330358  

rs25487

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.43551574T>C
NC_000019.10   g.43551574T>G
NC_000019.9   g.44055726T>C
NC_000019.9   g.44055726T>G
NG_033799.1   g.29005A>G
NG_033799.1   g.29005A>C
NM_006297.3   c.1196A>G
NM_006297.3   c.1196A>C
NM_006297.2   c.1196A>G
NM_006297.2   c.1196A>C
NP_006288.  

rs2267437

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.41620695C>A
NC_000022.11   g.41620695C>G
NC_000022.10   g.42016699C>A
NC_000022.10   g.42016699C>G|SEQ=[C/A/G]|GENE=XRCC6
DESI1   27351

rs17167484

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.134371303T>G
NC_000005.9   g.133706994T>G
NG_042179.2   g.4745A>C
NG_046936.1   g.5128T>G
NM_003337.3   c.-293T>G
XM_017009544.2   c.-937A>C
XM_017009545.2   c.-742A>C
XM_024446086.1   c.-327A>C
XM_024446097.1   c.-729A>C
XM_024446096.1   c.-708A>C
XM_0  

rs200749741

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.124500574G>A
NC_000009.11   g.127262853G>A
NG_008176.1   g.11847C>T
NM_004959.5   c.386C>T
NM_004959.4   c.386C>T
NP_004950.2   p.Pro129Leu|SEQ=[G/A]|GENE=NR5A1

rs143355429

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.124500173C>T
NC_000009.11   g.127262452C>T
NG_008176.1   g.12248G>A
NM_004959.5   c.787G>A
NM_004959.4   c.787G>A
NP_004950.2   p.Gly263Ser|SEQ=[C/T]|GENE=NR5A1

rs759071081

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.124491167G>A
NC_000009.11   g.127253446G>A
NG_008176.1   g.21254C>T
NM_004959.5   c.1052C>T
NM_004959.4   c.1052C>T
NP_004950.2   p.Ala351Val|SEQ=[G/A]|GENE=NR5A1

rs1237691411

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.101737863A>G
NC_000012.11   g.102131641A>G
NG_021181.1   g.6607T>C
NM_153694.4   c.73T>C
NM_001177949.2   c.73T>C
NM_001177949.1   c.73T>C
NM_001177948.1   c.73T>C
XM_005268922.5   c.313T>C
XM_005268922.1   c.313T>C
XM_005268926.4   c.73T>C
XM_005268926  

Protein Summary

• Protein general information: Q15067  
  • 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 ch
  • Length: 660  
  • Mass: 74424
  • 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:

  MNPDLRRERDSASFNPELLTHILDGSPEKTRRRREIENMILNDPDFQHEDLNFLTRSQRYEVAVRKSAIMVKKMR
  EFGIADPDEIMWFKKLHLVNFVEPVGLNYSMFIPTLLNQGTTAQKEKWLLSSKGLQIIGTYAQTEMGHGTHLRGL
  ETTATYDPETQEFILNSPTVTSIKWWPGGLGKTSNHAIVLAQLITKGKCYGLHAFIVPIREIGTHKPLPGITVGD
  IGPKFGYDEIDNGYLKMDNHRIPRENMLMKYAQVKPDGTYVKPLSNKLTYGTMVFVRSFLVGEAARALSKACTIA
  IRYSAVRHQSEIKPGEPEPQILDFQTQQYKLFPLLATAYAFQFVGAYMKETYHRINEGIGQGDLSELPELHALTA
  GLKAFTSWTANTGIEACRMACGGHGYSHCSGLPNIYVNFTPSCTFEGENTVMMLQTARFLMKSYDQVHSGKLVCG
  MVSYLNDLPSQRIQPQQVAVWPTMVDINSPESLTEAYKLRAARLVEIAAKNLQKEVIHRKSKEVAWNLTSVDLVR
  ASEAHCHYVVVKLFSEKLLKIQDKAIQAVLRSLCLLYSLYGISQNAGDFLQGSIMTEPQITQVNQRVKELLTLIR
  SDAVALVDAFDFQDVTLGSVLGRYDGNVYENLFEWAKNSPLNKAEVHESYKHLKSLQSKL

• Structural information:
  • Interpro: IPR034171  IPR029320  IPR006091  IPR012258  IPR002655   IPR036250  IPR037069  IPR009100  
  • CDD: cd01150
  • STRING: ENSP00000293217
• Other Databases: GeneCards:  ACOX1  Malacards:  ACOX1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050660	flavin adenine dinucleotide binding	IBA	molecular function
GO:0033540	fatty acid beta-oxidation using acyl-CoA oxidase	IBA	biological process
GO:0005504	fatty acid binding	IBA	molecular function
GO:0003997	acyl-CoA oxidase activity	IBA	molecular function
GO:0000038	very long-chain fatty acid metabolic process	IBA	biological process
GO:0055088	lipid homeostasis	IBA	biological process
GO:0016401	palmitoyl-CoA oxidase activity	IBA	molecular function
GO:0005777	peroxisome	IBA	cellular component
GO:0003997	acyl-CoA oxidase activity	IEA	molecular function
GO:0006635	fatty acid beta-oxidation	IEA	biological process
GO:0050660	flavin adenine dinucleotide binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0071949	FAD binding	IEA	molecular function
GO:0005777	peroxisome	IEA	cellular component
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0016627	oxidoreductase activity, acting on the CH-CH group of donors	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0005777	peroxisome	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0003997	acyl-CoA oxidase activity	IEA	molecular function
GO:0030165	PDZ domain binding	IDA	molecular function
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0036109	alpha-linolenic acid metabolic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006625	protein targeting to peroxisome	TAS	biological process
GO:0019216	regulation of lipid metabolic process	TAS	biological process
GO:0033540	fatty acid beta-oxidation using acyl-CoA oxidase	TAS	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005777	peroxisome	IEA	cellular component
GO:0005778	peroxisomal membrane	IEA	cellular component
GO:0019395	fatty acid oxidation	IEA	biological process
GO:0003997	acyl-CoA oxidase activity	IMP	molecular function
GO:0000038	very long-chain fatty acid metabolic process	IMP	biological process
GO:0033540	fatty acid beta-oxidation using acyl-CoA oxidase	IMP	biological process
GO:0005777	peroxisome	IEA	cellular component
GO:0033540	fatty acid beta-oxidation using acyl-CoA oxidase	IEA	biological process
GO:0003997	acyl-CoA oxidase activity	IDA	molecular function
GO:0006629	lipid metabolic process	IDA	biological process
GO:0005777	peroxisome	IDA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0003997	acyl-CoA oxidase activity	IMP	molecular function
GO:0019395	fatty acid oxidation	IMP	biological process
GO:0016020	membrane	HDA	cellular component
GO:0006693	prostaglandin metabolic process	IMP	biological process
GO:0006091	generation of precursor metabolites and energy	IMP	biological process
GO:0047485	protein N-terminus binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04024	cAMP signaling pathway
hsa01200	Carbon metabolism
hsa04146	Peroxisome
hsa03320	PPAR signaling pathway
hsa01212	Fatty acid metabolism
hsa00071	Fatty acid degradation
hsa00410	beta-Alanine metabolism
hsa00640	Propanoate metabolism
hsa01040	Biosynthesis of unsaturated fatty acids
hsa00592	alpha-Linolenic acid metabolism

Diseases

Associated diseases	References
Peroxisomal beta-oxidation enzyme deficiency	KEGG:H00407
Peroxisomal acyl-CoA oxidase deficiency	KEGG:H02096
Peroxisomal beta-oxidation enzyme deficiency	KEGG:H00407
Peroxisomal acyl-CoA oxidase deficiency	KEGG:H02096
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq