AOPEP (aminopeptidase O (putative))

Gene

• Entrez ID: 84909
• Gene name: Aminopeptidase O (putative)
• Gene symbol: AOPEP
• Synonyms (NCBI Gene): AP-O, APO, C90RF3, C9orf3, DYT31, ONPEP
• Chromosome: 9
• Chromosome location: 9q22.32
• 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 gene

Gene ontology (GO)

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
GO:0005737	Component	Cytoplasm	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0070006	Function	Metalloaminopeptidase activity	IEA

Other IDs

• MIM: 619600
• HGNC: 1361
• e!Ensembl: ENSG00000148120

Protein

• 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

Pathways

Reactome:

Metabolism of Angiotensinogen to Angiotensins

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
AOPEP-related disorder	Likely pathogenic	rs747916174	RCV003401705	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Clear cell carcinoma of kidney	Likely pathogenic	rs779393035	RCV005922410	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dystonia 31	Pathogenic; Likely pathogenic	rs577000059, rs1043405296, rs779393035, rs747916174, rs778493729, rs776739942, rs2540340757	RCV001775036 RCV001775037 RCV001775038 RCV001775039 RCV001775040 RCV003221367 RCV003444074	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sarcoma	Likely pathogenic	rs779393035	RCV005922411	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, JUVENILE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FLUTTER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC ARRHYTHMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOEMBOLIC STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERECTILE DYSFUNCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP A	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP C	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HODGKINS LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROLITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN FAILURE, PREMATURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	20975270, 26738354, 35011591	Associate	★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	34338756	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	30529831	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	22544366, 28416818, 29892015, 30061737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	22544366, 29892015, 30061737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	GWASDB_DG	22544366		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	BEFREE	25391453, 26073630		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial fibrillation	Pubtator	25953654, 28175276, 34338756	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	34680877	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	14638877	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	35011591	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	19014618, 8099256	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	19494537		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	14638877, 32999396	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	32999396	Associate	★☆☆☆☆ Found in Text Mining only
Drusen	Drusen	BEFREE	16799058		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	27067897		★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	BEFREE	25586784		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	14638877, 32999396	Associate	★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	28340599	Associate	★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Juvenile psoriatic arthritis	Juvenile arthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Juvenile-Onset Still Disease	Still Disease	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	22308028	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Emery Dreifuss	Emery dreifuss muscular dystrophy	Pubtator	35011591	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28077801		★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	22544366, 29892015, 30061737		★☆☆☆☆ Found in Text Mining only
Periapical Periodontitis	Periapical Periodontitis	BEFREE	29397217		★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Negative	Seronegative polyarthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Positive	Polyarthritis, Rheumatoid Factor Positive	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	11334897, 26220222, 26474478	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	GWASCAT_DG	22885925, 26284813, 30566500		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	GWASDB_DG	22885925		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	25586784, 26220222, 26474478		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	BEFREE	25586784		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	28077801	Associate	★☆☆☆☆ Found in Text Mining only