AOPEP
Aminopeptidase O
Also known as: AMPO_HUMAN, AP-O, APO, C90RF3, C9orf3, FLJ14675
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8N6M6
- Gene
- AOPEP
- Ensembl
- ENSG00000148120
- Chromosome
- 9
- Canonical length
- 819 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Cell Junctions
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
819 residues, UniProt reviewed canonical sequence.
>Q8N6M6|AOPEP
1 MDIQLDPARD DLPLMANTSH ILVKHYVLDL DVDFESQVIE GTIVLFLEDG NRFKKQNSSI
61 EEACQSESNK ACKFGMPEPC HIPVTNARTF SSEMEYNDFA ICSKGEKDTS DKDGNHDNQE
121 HASGISSSKY CCDTGNHGSE DFLLVLDCCD LSVLKVEEVD VAAVPGLEKF TRSPELTVVS
181 EEFRNQIVRE LVTLPANRWR EQLDYYARCS QAPGCGELLF DTDTWSLQIR KTGAQTATDF
241 PHAIRIWYKT KPEGRSVTWT SDQSGRPCVY TVGSPINNRA LFPCQEPPVA MSTWQATVRA
301 AASFVVLMSG ENSAKPTQLW EECSSWYYYV TMPMPASTFT IAVGCWTEMK METWSSNDLA
361 TERPFSPSEA NFRHVGVCSH MEYPCRFQNA SATTQEIIPH RVFAPVCLTG ACQETLLRLI
421 PPCLSAAHSV LGAHPFSRLD VLIVPANFPS LGMASPHIMF LSQSILTGGN HLCGTRLCHE
481 IAHAWFGLAI GARDWTEEWL SEGFATHLED VFWATAQQLA PYEAREQQEL RACLRWRRLQ
541 DEMQCSPEEM QVLRPSKDKT GHTSDSGASV IKHGLNPEKI FMQVHYLKGY FLLRFLAKRL
601 GDETYFSFLR KFVHTFHGQL ILSQDFLQML LENIPEEKRL ELSVENIYQD WLESSGIPKP
661 LQRERRAGAE CGLARQVRAE VTKWIGVNRR PRKRKRREKE EVFEKLLPDQ LVLLLEHLLE
721 QKTLSPRTLQ SLQRTYHLQD QDAEVRHRWC ELIVKHKFTK AYKSVERFLQ EDQAMGVYLY
781 GELMVSEDAR QQQLARRCFE RTKEQMDRSS AQVVAEMLFLocalizationUniProt · AlphaFold · HPA
Whether an antibody against AOPEP can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.27
- Highest tissue expression
- 36 nTPM
Expression across tissuesHPA
Tissue
- skin: 36 nTPM
- blood vessel: 30 nTPM
- skeletal muscle: 29 nTPM
- heart muscle: 28 nTPM
- liver: 23 nTPM
- placenta: 23 nTPM
Single-cell type
- myonuclei: 1,087 nCPM
- oligodendrocytes: 832 nCPM
- podocytes: 686 nCPM
- smooth muscle cells: 669 nCPM
- ependymal cells: 661 nCPM
- proximal tubule cells: 655 nCPM
Immune cell
- myeloid DC: 2.2 nTPM
- naive B-cell: 2.2 nTPM
- plasmacytoid DC: 2.1 nTPM
- classical monocyte: 1.4 nTPM
- NK-cell: 1.4 nTPM
- gdT-cell: 1.3 nTPM
Brain region
- white matter: 107 nTPM
- choroid plexus: 76 nTPM
- medulla oblongata: 76 nTPM
- basal ganglia: 67 nTPM
- cerebral cortex: 65 nTPM
- pons: 63 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about AOPEP.
Disease | AllUniProt
Conditions AOPEP is implicated in, by any mechanism.
- Dystonia 31 (DYT31) MIM:619565
Disease | GeneticClinVar
10 pathogenic / likely-pathogenic of 58 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Dystonia 31
- Clear cell carcinoma of kidney
- Sarcoma
- AOPEP-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.94
- gnomAD pLI
- 0
- DepMap mean gene effect
- 0.03
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Peptidase M1, membrane alanine aminopeptidase
- Peptidase M1, leukotriene A4 hydrolase/aminopeptidase C-terminal
- Armadillo-type fold
- Peptidase M4/M1, CTD superfamily
- Peptidase M1, LTA-4 hydrolase/aminopeptidase, C-terminal domain superfamily
- Aminopeptidase N-like , N-terminal domain superfamliy
- Peptidase family M1 domain
- Leukotriene A4 hydrolase, C-terminal
- Aminopeptidase O
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads AOPEP as an antibody target. Whether an autoantibody or antibody against AOPEP could matter depends on whether native AOPEP is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
AOPEP is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label AOPEP as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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