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chromosome 9 open reading frame 3
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| Identifiers | |
| Symbol | C9orf3 |
| Alt. Symbols | C90RF3, FLJ14675, APO |
| Entrez | 84909 |
| HUGO | 1361 |
| RefSeq | NM_032823 |
| UniProt | Q8N6M6 |
| Other data | |
| EC number | 3.4.11.- |
| Locus | Chr. 9 q22 |
Chromosome 9 open reading frame 3 also known as C9ORF3 is a human gene.1 The protein encoded by this gene is an aminopeptidase which is most closely related in sequence to leukotriene A4 hydrolase (LTA4H).2
Contents |
Structure
The C9ORF3 aminopeptidase enzyme contains the following domains:2
- LTA4H-like N-terminal domain
- gluzincin aminopeptidase domain
- SH3-like motif
- ARM C-terminal domain
Function
The C9ORF3 aminopeptidase cleaves the N-terminal amino acid from polypeptides and shows a strong preference for peptides in which the N-terminus is arginine and to a lesser extent asparagine. Furthermore the activity of the enzyme is inhibited by o-phenanthroline, a metalloprotease inhibitor and by arphamenine A, a potent inhibitor of aminopeptidases such as LTA4H.2
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. Role of C9ORF3 is under investigation.
Tissue distribution
C9ORF3 Messenger RNA has been detected in human pancreas, placenta, liver, testis, and heart. The expression in the heart suggests this enzyme may play a role in the regulating the physiology of cardiac muscle.2
Clinical significance
High expression levels of C9ORF3 is positively correlated with maximal oxygen uptake (VO2 max) and the amount of "slow-twitch" type 1 muscle fibers.3
References
- ^ Strausberg RL, Feingold EA, Grouse LH, et al (December 2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:. PMID 12477932.
- ^ a b c d Díaz-Perales A, Quesada V, Sánchez LM, Ugalde AP, Suárez MF, Fueyo A, López-Otín C (April 2005). "Identification of human aminopeptidase O, a novel metalloprotease with structural similarity to aminopeptidase B and leukotriene A4 hydrolase". J. Biol. Chem. 280 (14): 14310–7. doi:. PMID 15687497.
- ^ Parikh H, Nilsson E, Ling C, Poulsen P, Almgren P, Nittby H, Eriksson KF, Vaag A, Groop LC (June 2008). "Molecular correlates for maximal oxygen uptake and type 1 fibers". Am. J. Physiol. Endocrinol. Metab. 294 (6): E1152–9. doi:. PMID 18445752.
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This article on a gene on chromosome 9 is a stub. You can help Wikipedia by expanding it. |
Wikipedia content modification information:
- This page was last modified on 5 September 2008, at 10:58.
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