AOPEP
Identifiers
Aliases	AOPEP, chromosome 9 open reading frame 3, AP-O, APO, C90RF3, ONPEP, aminopeptidase O (putative), C9orf3
External IDs	MGI:1919311;HomoloGene:66273;GeneCards:AOPEP;OMA:AOPEP - orthologs
Gene location (Human) Chr. Chromosome 9 (human)[1] Band 9q22.32 Start 94,726,701bp[1] End 95,087,218bp[1]
Gene location (Mouse) Chr. Chromosome 13 (mouse)[2] Band 13|13 B3 Start 63,112,707bp[2] End 63,473,910bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in apex of heart right coronary artery ascending aorta Descending thoracic aorta body of uterus popliteal artery tibial arteries left uterine tube sural nerve left coronary artery Top expressed in lip ascending aorta genital tubercle right kidney aortic valve muscle of thigh tail of embryo superior frontal gyrus interventricular septum primary visual cortex More reference expression data BioGPS n/a
Gene ontology Molecular function peptide binding zinc ion binding peptidase activity metallopeptidase activity hydrolase activity metal ion binding metalloaminopeptidase activity aminopeptidase activity Cellular component cytoplasm nucleolus cytosol nucleus Biological process proteolysis peptide catabolic process angiotensin maturation Sources:Amigo /QuickGO
Orthologs Species Human Mouse Entrez 84909 72061 Ensembl ENSG00000148120 ENSMUSG00000021458 UniProt Q8N6M6 Q8BXQ6 RefSeq (mRNA) NM_001193329 NM_001193330 NM_001193331 NM_032823 NM_001289924 NM_001289926 NM_028079 RefSeq (protein) NP_001180258 NP_001180260 NP_116212 NP_001276853 NP_001276855 Location (UCSC) Chr 9: 94.73 – 95.09 Mb Chr 13: 63.11 – 63.47 Mb PubMed search [3] [4]
Wikidata
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Chromosome 9open reading frame 3 (C9ORF3) also known asaminopeptidase O (APO) is anenzyme which in humans is encoded by theC9ORF3gene.^[5] Theprotein encoded by this gene is anaminopeptidase which is most closely related insequence toleukotriene A4 hydrolase (LTA4H). APO is a member of the M1metalloproteinase family.^[6][7]

The C9ORF3 aminopeptidase enzyme contains the followingdomains:^{[citation needed]}

• LTA4H-likeN-terminal domain
• gluzincin aminopeptidase domain
• SH3-like motif
• ARMC-terminal domain

The C9ORF3 aminopeptidase cleaves theN-terminal amino acid frompolypeptides and shows a strong preference for peptides in which the N-terminus isarginine and to a lesser extentasparagine. Furthermore, the activity of the enzyme is inhibited by o-phenanthroline, ametalloprotease inhibitor and by arphamenine A, a potent inhibitor of aminopeptidases such as LTA4H. Also able to cleaveangiotensin III to generateangiotensin IV, a bioactive peptide of therenin–angiotensin pathway.^{[citation needed]}

Due to its aminopeptidase activity this enzyme may play a role in the proteolytic processing of bioactive peptides in those tissues where it is expressed.

C9ORF3Messenger RNA has been detected in human pancreas, placenta, liver, testis, and heart. The expression in the heart suggests this enzyme may also play a role in the regulating the physiology of cardiac muscle.^{[citation needed]} Several ApO isoforms are expressed predominantly in blood vessels suggesting that ApO plays a role in vascular cell biology.^[6]

High expression levels of C9ORF3 is positively correlated with maximal oxygen uptake (VO₂ max) and the amount of "slow-twitch"type 1 muscle fibers.^[8]

• HumanC9orf3 genome location andC9orf3 gene details page in theUCSC Genome Browser.

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