C9orf3

Source: Wikipedia, the free encyclopedia.
AOPEP
Identifiers
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Ensembl
UniProt
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 MbChr 13: 63.11 – 63.47 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Chromosome 9

leukotriene A4 hydrolase (LTA4H).[6] APO is a member of the M1 metalloproteinase family.[7][8]

Structure

The C9ORF3 aminopeptidase enzyme contains the following domains:[6]

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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000148120 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021458 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. PMID 12477932
    .
  6. ^
    doi:10.1074/jbc.w118.007327. If this is an intentional citation to a retracted paper, please replace {{Retracted}} with {{Retracted
    |intentional=yes}}.)
  7. ^ .
  8. .
  9. .

External links


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