AOPEP - aminopeptidase O (putative) Gene
Also Known as APO; AP-O; DYT31; ONPEP; C90RF3; C9orf3
Species: Homo sapiens
About AOPEP
This gene has 21 transcripts (splice variants), 227 orthologues, 11 paralogues and is associated with 1 phenotype. Ubiquitous expression in skin (RPKM 4.6), endometrium (RPKM 4.2) and 24 other tissues.
Summary
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 Products (17)
| mRNA | Protein | Name |
|---|---|---|
| NM_001193329.3 | NP_001180258.1 | aminopeptidase O isoform 1 |
| NM_001193331.3 | NP_001180260.1 | aminopeptidase O isoform 4 |
| NM_001386061.1 | NP_001372990.1 | aminopeptidase O isoform 5 |
| NM_001386062.2 | NP_001372991.1 | aminopeptidase O isoform 6 |
| NM_001386063.2 | NP_001372992.1 | aminopeptidase O isoform 7 |
| NM_001386066.1 | NP_001372995.1 | aminopeptidase O isoform 3 |
| NM_001386067.1 | NP_001372996.1 | aminopeptidase O isoform 8 |
| NM_001386068.1 | NP_001372997.1 | aminopeptidase O isoform 3 |
| NM_001386069.1 | NP_001372998.1 | aminopeptidase O isoform 9 |
| NM_001386070.1 | NP_001372999.1 | aminopeptidase O isoform 10 |
| NM_001386071.1 | NP_001373000.1 | aminopeptidase O isoform 4 |
| NM_001386072.1 | NP_001373001.1 | aminopeptidase O isoform 11 |
| NM_001386073.1 | NP_001373002.1 | aminopeptidase O isoform 12 |
| NM_001386074.1 | NP_001373003.1 | aminopeptidase O isoform 13 |
| NM_001386075.1 | NP_001373004.1 | aminopeptidase O isoform 2 |
| NM_001386076.1 | NP_001373005.1 | aminopeptidase O isoform 14 |
| NM_032823.6 | NP_116212.3 | aminopeptidase O isoform 2 |
AOPEP Protein Structure
Peptidase_M1: Peptidase family M1 domain (244 - 353)
Peptidase_MA_2: Peptidase MA superfamily (477 - 611)
Leuk-A4-hydro_C: Leukotriene A4 hydrolase, C-terminal (673 - 818)
- 0
- 200
- 400
- 600
- 819 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
aminopeptidase O |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Dystonia 31 |
|
|
| Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
|
| Fanconi Anemia, Complementation Group C |
|
|
| Inherited Cancer-Predisposing Syndrome |
|
|
| Bap1 Tumor Predisposition Syndrome |
|
|
| Esophageal Atresia |
|
|
| Fanconi Anemia, Complementation Group A |
|
|
| Breast Cancer |
|
|
| Dystonia |
|
|
| Colorectal Cancer |
|
|