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Protein

Peroxisomal acyl-coenzyme A oxidase 2

Gene

ACOX2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Oxidizes the CoA esters of the bile acid intermediates di- and tri-hydroxycholestanoic acids.1 Publication

Catalytic activityi

(25R)-3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestan-26-oyl-CoA + H2O + acceptor = (24R,25R)-3-alpha,7-alpha,12-alpha,24-tetrahydroxy-5-beta-cholestan-26-oyl-CoA + reduced acceptor.1 Publication

Cofactori

FADBy similarity

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionOxidoreductase
Biological processFatty acid metabolism, Lipid metabolism
LigandFAD, Flavoprotein

Enzyme and pathway databases

BioCyciMetaCyc:HS09732-MONOMER
ReactomeiR-HSA-193368 Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
R-HSA-389887 Beta-oxidation of pristanoyl-CoA
R-HSA-9033241 Peroxisomal protein import

Names & Taxonomyi

Protein namesi
Recommended name:
Peroxisomal acyl-coenzyme A oxidase 21 Publication (EC:1.17.99.31 Publication)
Alternative name(s):
3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase
3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA oxidaseBy similarity
Trihydroxycoprostanoyl-CoA oxidaseBy similarity
Short name:
THCA-CoA oxidaseBy similarity
Short name:
THCCox
Gene namesi
Name:ACOX2Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000168306.12
HGNCiHGNC:120 ACOX2
MIMi601641 gene
neXtProtiNX_Q99424

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Peroxisome

Pathology & Biotechi

Involvement in diseasei

Congenital bile acid synthesis defect 6 (CBAS6)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn inborn error of bile acid synthesis characterized by abnormally increased liver enzymes, hypolipidemia and low cholesterol, vitamin D deficiency, elevated plasma and urinary levels of C27 intermediate bile acids 3alpha,7alpha-dihydroxy-5beta-cholestanoic acid (DHCA) and 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoic acid (THCA). Serum levels of phytanic and pristanic acids are normal. Clinical features include liver fibrosis, mild ataxia, delayed development, and cognitive impairment. Liver histology shows many thin fibrous septa, swollen hepatocytes, glycogenated nuclei, and focal acinar transformation, consistent with hepatocellular injury and regeneration, without signs of obvious cholestasis, cholate stasis, or steatosis. CBAS6 transmission pattern is consistent with autosomal recessive inheritance.
See also OMIM:617308
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07876469 – 681Missing in CBAS6; patient liver samples show absence of the protein; complete loss of fatty acid beta-oxidation activity. 1 PublicationAdd BLAST613
Natural variantiVAR_078765225R → W in CBAS6; reduces fatty acid beta-oxidation activity; does not alter subcellular location. 1 PublicationCorresponds to variant dbSNP:rs150832314EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi8309
MalaCardsiACOX2
MIMi617308 phenotype
OpenTargetsiENSG00000168306
PharmGKBiPA24444

Polymorphism and mutation databases

BioMutaiACOX2
DMDMi17366636

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002046811 – 681Peroxisomal acyl-coenzyme A oxidase 2Add BLAST681

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei3PhosphoserineBy similarity1
Modified residuei9PhosphoserineCombined sources1
Modified residuei13PhosphothreonineCombined sources1
Modified residuei66N6-succinyllysineBy similarity1
Modified residuei137N6-succinyllysineBy similarity1
Modified residuei453N6-succinyllysineBy similarity1
Modified residuei561N6-succinyllysineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ99424
PaxDbiQ99424
PeptideAtlasiQ99424
PRIDEiQ99424
ProteomicsDBi78260

PTM databases

iPTMnetiQ99424
PhosphoSitePlusiQ99424

Expressioni

Tissue specificityi

Present in all tissues tested: heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Most abundant in heart, liver and kidney.1 Publication

Gene expression databases

BgeeiENSG00000168306
CleanExiHS_ACOX2
ExpressionAtlasiQ99424 baseline and differential
GenevisibleiQ99424 HS

Organism-specific databases

HPAiHPA038280
HPA064845

Interactioni

Subunit structurei

Homodimer.By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
DYNLT1P631724EBI-12026476,EBI-1176455

GO - Molecular functioni

  • protein homodimerization activity Source: UniProtKB
  • signaling receptor binding Source: UniProtKB

Protein-protein interaction databases

BioGridi113906, 4 interactors
IntActiQ99424, 1 interactor
STRINGi9606.ENSP00000307697

Structurei

3D structure databases

ProteinModelPortaliQ99424
SMRiQ99424
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi679 – 681Microbody targeting signalSequence analysis3

Sequence similaritiesi

Belongs to the acyl-CoA oxidase family.Curated

Phylogenomic databases

eggNOGiKOG0136 Eukaryota
COG1960 LUCA
GeneTreeiENSGT00530000062919
HOGENOMiHOG000181256
HOVERGENiHBG050451
InParanoidiQ99424
KOiK10214
OMAiQKACVIA
OrthoDBiEOG091G0A1P
PhylomeDBiQ99424
TreeFamiTF300672

Family and domain databases

Gene3Di1.10.540.10, 1 hit
InterProiView protein in InterPro
IPR029320 Acyl-CoA_ox_N
IPR006091 Acyl-CoA_Oxase/DH_cen-dom
IPR012258 Acyl-CoA_oxidase
IPR002655 Acyl-CoA_oxidase_C
IPR036250 AcylCo_DH-like_C
IPR037069 AcylCoA_DH/ox_N_sf
IPR009100 AcylCoA_DH/oxidase_NM_dom
PfamiView protein in Pfam
PF01756 ACOX, 1 hit
PF02770 Acyl-CoA_dh_M, 1 hit
PF14749 Acyl-CoA_ox_N, 1 hit
PIRSFiPIRSF000168 Acyl-CoA_oxidase, 1 hit
SUPFAMiSSF47203 SSF47203, 2 hits
SSF56645 SSF56645, 1 hit

Sequencei

Sequence statusi: Complete.

Q99424-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MGSPVHRVSL GDTWSRQMHP DIESERYMQS FDVERLTNIL DGGAQNTALR
60 70 80 90 100
RKVESIIHSY PEFSCKDNYF MTQNERYKAA MRRAFHIRLI ARRLGWLEDG
110 120 130 140 150
RELGYAYRAL SGDVALNIHR VFVRALRSLG SEEQIAKWDP LCKNIQIIAT
160 170 180 190 200
YAQTELGHGT YLQGLETEAT YDAATQEFVI HSPTLTATKW WPGDLGRSAT
210 220 230 240 250
HALVQAQLIC SGARRGMHAF IVPIRSLQDH TPLPGIIIGD IGPKMDFDQT
260 270 280 290 300
DNGFLQLNHV RVPRENMLSR FAQVLPDGTY VKLGTAQSNY LPMVVVRVEL
310 320 330 340 350
LSGEILPILQ KACVIAMRYS VIRRQSRLRP SDPEAKVLDY QTQQQKLFPQ
360 370 380 390 400
LAISYAFHFL AVSLLEFFQH SYTAILNQDF SFLPELHALS TGMKAMMSEF
410 420 430 440 450
CTQGAEMCRR ACGGHGYSKL SGLPSLVTKL SASCTYEGEN TVLYLQVARF
460 470 480 490 500
LVKSYLQTQM SPGSTPQRSL SPSVAYLTAP DLARCPAQRA ADFLCPELYT
510 520 530 540 550
TAWAHVAVRL IKDSVQHLQT LTQSGADQHE AWNQTTVIHL QAAKVHCYYV
560 570 580 590 600
TVKGFTEALE KLENEPAIQQ VLKRLCDLHA IHGILTNSGD FLHDAFLSGA
610 620 630 640 650
QVDMARTAYL DLLRLIRKDA ILLTDAFDFT DQCLNSALGC YDGNVYERLF
660 670 680
QWAQKSPTNT QENPAYEEYI RPLLQSWRSK L
Length:681
Mass (Da):76,827
Last modified:May 1, 1997 - v1
Checksum:i7FAE9236FCBE6D4D
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07876469 – 681Missing in CBAS6; patient liver samples show absence of the protein; complete loss of fatty acid beta-oxidation activity. 1 PublicationAdd BLAST613
Natural variantiVAR_078765225R → W in CBAS6; reduces fatty acid beta-oxidation activity; does not alter subcellular location. 1 PublicationCorresponds to variant dbSNP:rs150832314EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X95190 mRNA Translation: CAA64489.1
AJ001541
, AJ001542, AJ001543, AJ001544, AJ001545, AJ001546, AJ001547, AJ001548 Genomic DNA Translation: CAB65596.1
AK313512 mRNA Translation: BAG36292.1
AC116036 Genomic DNA No translation available.
CH471055 Genomic DNA Translation: EAW65375.1
BC047700 mRNA Translation: AAH47700.1
CCDSiCCDS33775.1
RefSeqiNP_003491.1, NM_003500.3
XP_005265562.1, XM_005265505.1
UniGeneiHs.444959

Genome annotation databases

EnsembliENST00000302819; ENSP00000307697; ENSG00000168306
GeneIDi8309
KEGGihsa:8309
UCSCiuc003dkl.4 human

Similar proteinsi

Entry informationi

Entry nameiACOX2_HUMAN
AccessioniPrimary (citable) accession number: Q99424
Secondary accession number(s): A6NF16, B2R8U5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 2, 2001
Last sequence update: May 1, 1997
Last modified: June 20, 2018
This is version 165 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

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