AOPEP (aminopeptidase O (putative))

Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84909
Gene name Gene Name - the full gene name approved by the HGNC.
Aminopeptidase O (putative)
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AOPEP
Synonyms (NCBI Gene) Gene synonyms aliases
AP-O, APO, C90RF3, C9orf3, DYT31, ONPEP
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q22.32
Summary Summary of gene provided in NCBI Entrez 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 gene
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(13)
GO ID Ontology Definition Evidence Reference
GO:0004177 Function Aminopeptidase activity IEA
GO:0005634 Component Nucleus IEA
GO:0005730 Component Nucleolus IBA
GO:0005730 Component Nucleolus IEA
GO:0005730 Component Nucleolus ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
619600 1361 ENSG00000148120
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q8N6M6
Protein name Aminopeptidase O (AP-O) (EC 3.4.11.-)
Protein function Aminopeptidase which catalyzes the hydrolysis of amino acid residues from the N-terminus of peptide or protein substrates.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01433 Peptidase_M1 423 → 651 Peptidase family M1 domain Domain
PF09127 Leuk-A4-hydro_C 706 → 818 Leukotriene A4 hydrolase, C-terminal Family
Sequence 
MDIQLDPARDDLPLMANTSHILVKHYVLDLDVDFESQVIEGTIVLFLEDGNRFKKQNSSI
EEACQSESNKACKFGMPEPCHIPVTNARTFSSEMEYNDFAICSKGEKDTSDKDGNHDNQE
HASGISSSKYCCDTGNHGSEDFLLVLDCCDLSVLKVEEVDVAAVPGLEKFTRSPELTVVS
EEFRNQIVRELVTLPANRWREQLDYYARCSQAPGCGELLFDTDTWSLQIRKTGAQTATDF
PHAIRIWYKTKPEGRSVTWTSDQSGRPCVYTVGSPINNRALFPCQEPPVAMSTWQATVRA
AASFVVLMSGENSAKPTQLWEECSSWYYYVTMPMPASTFTIAVGCWTEMKMETWSSNDLA
TERPFSPSEANFRHVGVCSHMEYPCRFQNASATTQEIIPHRVFAPVCLTGACQETLLRLI
PPCLSAAHSVLGAHPFSRLDVLIVPANFPSLGMASPHIMFLSQSILTGGNHLCGTRLCHE
IAHAWFGLAIGARDWTEEWLSEGFATHLEDVFWATAQQLAPYEAREQQELRACLRWRRLQ
DEMQCSPEEMQVLRPSKDKTGHTSDSGASVIKHGLNPEKIFMQVHYLKGYFLLRFLAKRL
GDETYFSFLRKFVHTFHGQLILSQDFLQMLLENIPEEKRLELSVENIYQDWLESSGIPKP
LQRERRAGAECGLARQVRAEVTKWIGVNRRPRKRKRREKEEVFEKLLPDQLVLLLEHLLE
QKTLSPRTLQSLQRTYHLQDQDAEVRHRWCELIVKHKFTKAYKSVERFLQEDQAMGVYLY
GELMVSEDARQQQLARRCFERTKEQMDRSSAQVVAEMLF
Sequence length 819
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Metabolism of Angiotensinogen to Angiotensins
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (5)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Breast Cancer Breast cancer N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Heart Failure Chronic heart failure, Heart failure N/A N/A GWAS
Show/Hide Text Mining Associations (22)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acute cholinergic dysautonomia Associate 23867982
Alzheimer Disease Associate 20975270, 26738354, 35011591
Arrhythmias Cardiac Associate 34338756
Atherosclerosis Associate 30529831
Atrial Fibrillation Associate 25953654, 28175276, 34338756
Bipolar Disorder Associate 34680877
Cerebral Infarction Associate 14638877
Cognitive Dysfunction Associate 35011591
Coronary Artery Disease Associate 19014618, 8099256
COVID 19 Associate 36371754