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Reviewed, UniProtKB/Swiss-Prot Q15067 (ACOX1_HUMAN)

Last modified June 16, 2009. Version 99. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Peroxisomal acyl-coenzyme A oxidase 1
      Short name=AOX
    EC=1.3.3.6
Alternative name(s):
    Palmitoyl-CoA oxidase
    Straight-chain acyl-CoA oxidase
      Short name=SCOX
Gene names
Name: ACOX1
Synonyms: ACOX
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length660 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

General annotation (Comments)

Function

Catalyzes the desaturation of very long chain acyl-CoAs to 2-trans-enoyl-CoAs.

Catalytic activity

Acyl-CoA + O2 = trans-2,3-dehydroacyl-CoA + H2O2.

Cofactor

FAD.

Pathway

Lipid metabolism; peroxisomal fatty acid beta-oxidation.

Subcellular location

Peroxisome.

Involvement in disease

Defects in ACOX1 are the cause of adrenoleukodystrophy pseudoneonatal (Pseudo-NALD) [MIM:264470]; also known as peroxisomal acyl-CoA oxidase deficiency. Pseudo-NALD is a peroxisomal single-enzyme disorder. Clinical features include mental retardation, leukodystrophy, seizures, mild hepatomegaly, hearing deficit. Pseudo-NALD is characterized by increased plasma levels of very-long chain fatty cids, due to decreased or absent peroxisome acyl-CoA oxidase activity. Peroxisomes are intact and functioning.

Sequence similarities

Belongs to the acyl-CoA oxidase family.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q15067-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q15067-2)

The sequence of this isoform differs from the canonical sequence as follows:
     90-131: KLHLVNFVEP...KWLLSSKGLQ → NFVHRGRPEP...RFFMPAWNLE

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 660660Peroxisomal acyl-coenzyme A oxidase 1
PRO_0000204677

Regions

Motif658 – 6603Microbody targeting signal

Sites

Active site4211Proton acceptor By similarity
Binding site1391FAD By similarity
Binding site1781FAD; via amide nitrogen By similarity

Amino acid modifications

Modified residue261Phosphoserine Ref.6 Ref.7
Modified residue2671N6-acetyllysine By similarity
Modified residue3101Phosphoserine By similarity
Modified residue6431N6-acetyllysine By similarity
Modified residue6491Phosphoserine By similarity

Natural variations

Alternative sequence90 – 13142KLHLV…SKGLQ → NFVHRGRPEPLDLHLGMFLP TLLHQATAEQQERFFMPAWN LE in isoform 2.
VSP_000146
Natural variant1011G → S: dbSNP rs3744032.
VAR_048182
Natural variant1531T → I: dbSNP rs17855420. Ref.5
VAR_030619
Natural variant1781G → C in pseudo-NALD. Ref.9
VAR_025789
Natural variant2781M → V in pseudo-NALD. Ref.9
VAR_025790
Natural variant3121I → M: dbSNP rs1135640. Ref.5 Ref.3 Ref.4
VAR_021529

Experimental info

Sequence conflict271P → L in CAA50574. Ref.3
Sequence conflict801A → R in CAA50574. Ref.3
Sequence conflict1191Q → E in AAB30019. Ref.4
Sequence conflict2001Y → H in AAA18595. Ref.2
Sequence conflict212 – 2132IG → NR in AAA19113. Ref.1
Sequence conflict212 – 2132IG → NR in AAA18595. Ref.2
Sequence conflict2641T → P in AAA19113. Ref.1
Sequence conflict2641T → P in AAA18595. Ref.2
Sequence conflict3321F → L in AAA18595. Ref.2
Sequence conflict4491C → R in AAA18595. Ref.2
Sequence conflict5311C → L in AAA19113. Ref.1
Sequence conflict5311C → L in AAA18595. Ref.2
Sequence conflict534 – 5352VV → GL in AAA19113. Ref.1
Sequence conflict534 – 5352VV → GL in AAA18595. Ref.2
Sequence conflict6151V → A in CAA50574. Ref.3
Sequence conflict6501Y → YH in AAB30019. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified February 20, 2007. Version 3.
Checksum: D713768A47374EA1

FASTA66074,424
        10         20         30         40         50         60 
MNPDLRRERD SASFNPELLT HILDGSPEKT RRRREIENMI LNDPDFQHED LNFLTRSQRY 

        70         80         90        100        110        120 
EVAVRKSAIM VKKMREFGIA DPDEIMWFKK LHLVNFVEPV GLNYSMFIPT LLNQGTTAQK 

       130        140        150        160        170        180 
EKWLLSSKGL QIIGTYAQTE MGHGTHLRGL ETTATYDPET QEFILNSPTV TSIKWWPGGL 

       190        200        210        220        230        240 
GKTSNHAIVL AQLITKGKCY GLHAFIVPIR EIGTHKPLPG ITVGDIGPKF GYDEIDNGYL 

       250        260        270        280        290        300 
KMDNHRIPRE NMLMKYAQVK PDGTYVKPLS NKLTYGTMVF VRSFLVGEAA RALSKACTIA 

       310        320        330        340        350        360 
IRYSAVRHQS EIKPGEPEPQ ILDFQTQQYK LFPLLATAYA FQFVGAYMKE TYHRINEGIG 

       370        380        390        400        410        420 
QGDLSELPEL HALTAGLKAF TSWTANTGIE ACRMACGGHG YSHCSGLPNI YVNFTPSCTF 

       430        440        450        460        470        480 
EGENTVMMLQ TARFLMKSYD QVHSGKLVCG MVSYLNDLPS QRIQPQQVAV WPTMVDINSP 

       490        500        510        520        530        540 
ESLTEAYKLR AARLVEIAAK NLQKEVIHRK SKEVAWNLTS VDLVRASEAH CHYVVVKLFS 

       550        560        570        580        590        600 
EKLLKIQDKA IQAVLRSLCL LYSLYGISQN AGDFLQGSIM TEPQITQVNQ RVKELLTLIR 

       610        620        630        640        650        660 
SDAVALVDAF DFQDVTLGSV LGRYDGNVYE NLFEWAKNSP LNKAEVHESY KHLKSLQSKL 

« Hide

Isoform 2.

Checksum: 761C97B5043F9068
Show »

FASTA66074,668

References

« Hide 'large scale' references
[1]"Isolation of the human peroxisomal acyl-CoA oxidase gene: organization, promoter analysis, and chromosomal localization."
Varanasi U., Chu R., Chu S., Espinosa R., Lebeau M.M., Reddy J.K.
Proc. Natl. Acad. Sci. U.S.A. 91:3107-3111(1994) [PubMed: 8159712] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1 AND 2).
Tissue: Foreskin.
[2]"Overexpression and characterization of the human peroxisomal acyl-CoA oxidase in insect cells."
Chu R., Varanasi U., Chu S., Lin Y., Usuda N., Rao M.S., Reddy J.K.
J. Biol. Chem. 270:4908-4915(1995) [PubMed: 7876265] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Liver.
[3]"Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy."
Fourner B., Saudubray J.-M., Benichou B., Lyonnet S., Munnich A., Clevers H., Poll-The B.T.
J. Clin. Invest. 94:526-531(1994) [PubMed: 8040306] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANT MET-312, INVOLVEMENT IN PSEUDONEONATAL ADRENOLEUKODYSTROPHY.
Tissue: Liver.
[4]"Molecular cloning and functional expression of a human peroxisomal acyl-coenzyme A oxidase."
Aoyama T., Tsushima K., Souri M., Kamijo T., Suzuki Y., Shimozawa N., Orii T., Hashimoto T.
Biochem. Biophys. Res. Commun. 198:1113-1118(1994) [PubMed: 8117268] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT MET-312.
Tissue: Liver.
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANTS ILE-153 AND MET-312.
Tissue: Colon and Eye.
[6]"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
Cell 127:635-648(2006) [PubMed: 17081983] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-26, MASS SPECTROMETRY.
Tissue: Epithelium.
[7]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-26, MASS SPECTROMETRY.
[8]Colinge J., Superti-Furga G., Bennett K.L.
Submitted (OCT-2008) to UniProtKB
Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
[9]"Peroxisomal acyl-CoA oxidase deficiency."
Suzuki Y., Iai M., Kamei A., Tanabe Y., Chida S., Yamaguchi S., Zhang Z., Takemoto Y., Shimozawa N., Kondo N.
J. Pediatr. 140:128-130(2002) [PubMed: 11815777] [Abstract]
Cited for: VARIANTS PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY CYS-178 AND VAL-278.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

U03268 expand/collapse EMBL AC list , U03254, U03255, U03256, U03258, U03259, U03260, U03261, U03263, U03264, U03265, U03266, U03267 Unassigned DNA. Translation: AAA19113.1.
U03268 expand/collapse EMBL AC list , U03254, U03255, U03257, U03258, U03259, U03260, U03261, U03263, U03264, U03265, U03266, U03267 Unassigned DNA. Translation: AAA19114.1.
U07866 mRNA. Translation: AAA18595.1.
X71440 mRNA. Translation: CAA50574.1.
S69189 mRNA. Translation: AAB30019.2.
BC008767 mRNA. Translation: AAH08767.1.
BC010425 mRNA. Translation: AAH10425.1.
IPIIPI00296907.
IPI00477729.
PIRA54942.
B54942.
I38095.
RefSeqNP_004026.2.
NP_009223.2.
UniGeneHs.464137

3D structure databases

HSSPHSSP built from PDB template 1IS2 based on UniProtKB P07872.
SMRQ15067. Positions 1-654.
ModBaseSearch...

PTM databases

PhosphoSiteQ15067.

Proteomic databases

PeptideAtlasQ15067.
PRIDEQ15067.

Genome annotation databases

EnsemblENSG00000161533. Homo sapiens. [Contig view]
GeneID51.
KEGGhsa:51.
NMPDRfig|9606.3.peg.14420.

Organism-specific databases

GeneCardsGC17M071453.
H-InvDBHIX0021139.
HGNCHGNC:119. ACOX1.
MIM264470. phenotype.
609751. gene.
Orphanet2971. Pseudoadrenoleukodystrophy.
PharmGKBPA21.
GenAtlasSearch...

Phylogenomic databases

HOGENOMQ15067.
HOVERGENQ15067.
OMAQ15067. QGSIMTE.

Enzyme and pathway databases

BRENDA1.3.3.6. 247.

Gene expression databases

ArrayExpressQ15067.
BgeeQ15067.
CleanExHS_ACOX1.
GermOnlineENSG00000161533. Homo sapiens.

Family and domain databases

InterProIPR006091. Acyl-CoA_Oxase/DH_M.
IPR012258. Acyl-CoA_oxidase.
IPR002655. Acyl-CoA_oxidase_C.
IPR013786. AcylCoA_DH/ox_N.
IPR013764. AcylCoA_oxidase/DH_1/2_C.
[Graphical view]
Gene3DG3DSA:2.40.110.10. Acyl_CoA_DH/ox_M. 1 hit.
G3DSA:1.10.540.10. AcylCoA_DH/ox_N. 1 hit.
G3DSA:1.20.140.10. AcylCoA_DH_1/2_C. 2 hits.
PANTHERPTHR10909:SF11. Acyl-CoA_oxidase. 1 hit.
PfamPF01756. ACOX. 1 hit.
PF02770. Acyl-CoA_dh_M. 1 hit.
[Graphical view]
PIRSFPIRSF000168. Acyl-CoA_oxidase. 1 hit.
ProtoNetSearch...

Other Resources

NextBio199.
SOURCESearch...

Entry information

Entry nameACOX1_HUMAN
AccessionPrimary (citable) accession number: Q15067
Secondary accession number(s): Q12863 expand/collapse secondary AC list , Q15068, Q15101, Q16131, Q9UD31
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: February 20, 2007
Last modified: June 16, 2009
This is version 99 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Relevant documents

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

PATHWAY comments

Index of metabolic and biosynthesis pathways

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents