C9orf3
AOPEP | |||
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Identifiers | |||
Gene ontology | |||
Molecular function | |||
Cellular component | |||
Biological process | |||
Sources:Amigo / QuickGO |
Ensembl | |||||||||
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UniProt | |||||||||
RefSeq (mRNA) | |||||||||
RefSeq (protein) | |||||||||
Location (UCSC) | Chr 9: 94.73 – 95.09 Mb | Chr 13: 63.11 – 63.47 Mb | |||||||
PubMed search | [3] | [4] |
View/Edit Human | View/Edit Mouse |
Chromosome 9
Structure
The C9ORF3 aminopeptidase enzyme contains the following domains:[6]
- LTA4H-like N-terminal domain
- gluzincin aminopeptidase domain
- SH3-like motif
- ARM C-terminaldomain
Function
The C9ORF3 aminopeptidase cleaves the
metalloprotease inhibitor and by arphamenine A, a potent inhibitor of aminopeptidases such as LTA4H. Also able to cleave angiotensin III to generate angiotensin IV, a bioactive peptide of the renin–angiotensin pathway.[6]
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.
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 also play a role in the regulating the physiology of cardiac muscle.[6] Several ApO isoforms are expressed predominantly in blood vessels suggesting that ApO plays a role in vascular cell biology.[7]
Clinical significance
High expression levels of C9ORF3 is positively correlated with maximal oxygen uptake (
type 1 muscle fibers.[9]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000148120 - Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021458 - Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- PMID 12477932.
- ^ |intentional=yes}}.)
- ^ S2CID 11365605.
- PMID 15544570.
- PMID 18445752.
External links
- Human C9orf3 genome location and C9orf3 gene details page in the UCSC Genome Browser.