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This gene encodes a member of the M1 zinc aminopeptidase family. The encoded protein is a zinc-dependent metallopeptidase that catalyzes the removal of an amino acid from the amino terminus of a protein or peptide. This protein may play a role in the generation of angiotensin IV. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]
AOPEP (Aminopeptidase O (Putative)) is a Protein Coding gene. Diseases associated with AOPEP include Fanconi Anemia, Complementation Group C and Fructose-1,6-Bisphosphatase Deficiency. Among its related pathways are Peptide hormone metabolism and Hepatitis C and Hepatocellular Carcinoma. An important paralog of this gene is RNPEP.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004177 | aminopeptidase activity | IEA | -- |
GO:0008233 | peptidase activity | IEA | -- |
GO:0008237 | metallopeptidase activity | IEA | -- |
GO:0008270 | zinc ion binding | IEA | -- |
GO:0016787 | hydrolase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005730 | nucleolus | IBA,ISS | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Peptide hormone metabolism | ||
2 | Metabolism of proteins | ||
3 | Hepatitis C and Hepatocellular Carcinoma |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002003 | angiotensin maturation | TAS | -- |
GO:0006508 | proteolysis | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
angiotensin III | Pharma | Agonist, Full agonist | 0 |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | C9H9orf3 30 |
|
||
C9orf3 31 |
|
OneToOne | |||
Cow (Bos Taurus) |
Mammalia | C8H9orf3 30 |
|
||
C9orf3 31 |
|
OneToOne | |||
Dog (Canis familiaris) |
Mammalia | C1H9orf3 30 |
|
||
C9orf3 31 |
|
OneToOne | |||
Mouse (Mus musculus) |
Mammalia | 2010111I01Rik 30 31 |
|
OneToOne | |
Aopep 17 |
|
||||
Rat (Rattus norvegicus) |
Mammalia | Npepo 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | C9orf3 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
Chicken (Gallus gallus) |
Aves | CZH9ORF3 30 |
|
||
C9orf3 31 |
|
OneToOne | |||
Lizard (Anolis carolinensis) |
Reptilia | C9orf3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | c9orf3 30 |
|
||
Str.19490 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | MGC68599 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | zgc:162939 30 |
|
||
C8H9orf3 31 |
|
OneToOne | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | LAP2 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
641917 | Uncertain Significance: Hereditary cancer-predisposing syndrome; Fanconi anemia | 95,107,211(+) | G/A | MISSENSE_VARIANT | |
643933 | Uncertain Significance: Fanconi anemia | 95,117,381(+) | C/A | MISSENSE_VARIANT | |
644730 | Uncertain Significance: Fanconi anemia | 95,125,185(+) | C/A | MISSENSE_VARIANT | |
648819 | Uncertain Significance: Fanconi anemia | 95,135,351(+) | A/G | MISSENSE_VARIANT | |
649717 | Pathogenic: Fanconi anemia; Fanconi anemia, complementation group A | 95,111,534(+) | TG/T | FRAMESHIFT_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv2168e212 | CNV | loss | 25503493 |
esv2764145 | CNV | loss | 21179565 |
esv3307403 | CNV | mobile element insertion | 20981092 |
esv3310318 | CNV | mobile element insertion | 20981092 |
esv3328162 | CNV | insertion | 20981092 |
esv3358674 | CNV | insertion | 20981092 |
esv3368410 | CNV | insertion | 20981092 |
esv3621113 | CNV | gain | 21293372 |
esv3621137 | CNV | loss | 21293372 |
esv3621138 | CNV | loss | 21293372 |
esv3621139 | CNV | gain | 21293372 |
esv3621140 | CNV | loss | 21293372 |
esv3621141 | CNV | loss | 21293372 |
esv3621144 | CNV | loss | 21293372 |
esv8177 | CNV | gain | 19470904 |
esv8735 | CNV | gain | 19470904 |
nsv1038106 | CNV | gain | 25217958 |
nsv1041922 | CNV | gain | 25217958 |
nsv1045849 | CNV | loss | 25217958 |
nsv1075255 | CNV | deletion | 25765185 |
nsv1144283 | CNV | deletion | 24896259 |
nsv1147999 | OTHER | inversion | 26484159 |
nsv473369 | CNV | novel sequence insertion | 20440878 |
nsv479050 | CNV | novel sequence insertion | 20440878 |
nsv831656 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
fanconi anemia, complementation group c |
|
|
fructose-1,6-bisphosphatase deficiency |
|
|
fanconi anemia, complementation group a |
|
|