APEH (acylaminoacyl-peptide hydrolase)

Gene

• Entrez ID: 327
• Gene name: Acylaminoacyl-peptide hydrolase
• Gene symbol: APEH
• Synonyms (NCBI Gene): AARE, ACPH, APH, D3F15S2, D3S48E, DNF15S2, OPH
• Chromosome: 3
• Chromosome location: 3p21.31
• Summary: This gene encodes the enzyme acylpeptide hydrolase, which catalyzes the hydrolysis of the terminal acetylated amino acid preferentially from small acetylated peptides. The acetyl amino acid formed by this hydrolase is further processed to acetate and a fr

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023935	hsa-miR-1-3p	Proteomics	18668040
MIRT025535	hsa-miR-34a-5p	Proteomics	21566225
MIRT025535	hsa-miR-34a-5p	Proteomics	21566225
MIRT028647	hsa-miR-30a-5p	Proteomics	18668040
MIRT044968	hsa-miR-186-5p	CLASH	23622248
MIRT041452	hsa-miR-193b-3p	CLASH	23622248
MIRT040071	hsa-miR-615-3p	CLASH	23622248
MIRT789079	hsa-miR-383	CLIP-seq
MIRT789080	hsa-miR-3929	CLIP-seq
MIRT789081	hsa-miR-4419b	CLIP-seq
MIRT789082	hsa-miR-4438	CLIP-seq
MIRT789083	hsa-miR-4478	CLIP-seq
MIRT789084	hsa-miR-4772-5p	CLIP-seq
MIRT2675132	hsa-miR-298	CLIP-seq
MIRT789079	hsa-miR-383	CLIP-seq
MIRT789080	hsa-miR-3929	CLIP-seq
MIRT789081	hsa-miR-4419b	CLIP-seq
MIRT789082	hsa-miR-4438	CLIP-seq
MIRT789083	hsa-miR-4478	CLIP-seq
MIRT789084	hsa-miR-4772-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22658674
GO:0004252	Function	Serine-type endopeptidase activity	IBA
GO:0004252	Function	Serine-type endopeptidase activity	IDA	17241160
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0004252	Function	Serine-type endopeptidase activity	TAS
GO:0005515	Function	Protein binding	IPI	16189514, 25416956, 31515488, 32296183, 32814053
GO:0005576	Component	Extracellular region	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006415	Process	Translational termination	TAS
GO:0006508	Process	Proteolysis	IDA	17241160
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0008242	Function	Omega peptidase activity	IDA	17241160
GO:0008242	Function	Omega peptidase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0031965	Component	Nuclear membrane	IDA
GO:0042802	Function	Identical protein binding	IPI	16189514, 25416956, 31515488, 32296183
GO:0050435	Process	Amyloid-beta metabolic process	IDA	17241160
GO:0070062	Component	Extracellular exosome	HDA	20458337, 23533145
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS

Other IDs

• MIM: 102645
• HGNC: 586
• e!Ensembl: ENSG00000164062

Protein

• UniProt ID: P13798
• Protein name: Acylamino-acid-releasing enzyme (AARE) (EC 3.4.19.1) (Acyl-peptide hydrolase) (APH) (Acylaminoacyl-peptidase) (Oxidized protein hydrolase) (OPH)
• Protein function: This enzyme catalyzes the hydrolysis of the N-terminal peptide bond of an N-acetylated peptide to generate an N-acetylated amino acid and a peptide with a free N-terminus (PubMed:10719179, PubMed:1740429, PubMed:2006156). It preferentially cleav
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00326	Peptidase_S9	516 → 732	Prolyl oligopeptidase family	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in erythrocytes (at protein level). {ECO:0000269|PubMed:10719179}.
• Sequence:

  MERQVLLSEPEEAAALYRGLSRQPALSAACLGPEVTTQYGGQYRTVHTEWTQRDLERMEN
  IRFCRQYLVFHDGDSVVFAGPAGNSVETRGELLSRESPSGTMKAVLRKAGGTGPGEEKQF
  LEVWEKNRKLKSFNLSALEKHGPVYEDDCFGCLSWSHSETHLLYVAEKKRPKAESFFQTK
  ALDVSASDDEIARLKKPDQAIKGDQFVFYEDWGENMVSKSIPVLCVLDVESGNISVLEGV
  PENVSPGQAFWAPGDAGVVFVGWWHEPFRLGIRFCTNRRSALYYVDLIGGKCELLSDDSL
  AVSSPRLSPDQCRIVYLQYPSLIPHHQCSQLCLYDWYTKVTSVVVDVVPRQLGENFSGIY
  CSLLPLGCWSADSQRVVFDSAQRSRQDLFAVDTQVGTVTSLTAGGSGGSWKLLTIDQDLM
  VAQFSTPSLPPTLKVGFLPSAGKEQSVLWVSLEEAEPIPDIHWGIRVLQPPPEQENVQYA
  GLDFEAILLQPGSPPDKTQVPMVVMPHGGPHSSFVTAWMLFPAMLCKMGFAVLLVNYRGS
  TGFGQDSILSLPGNVGHQDVKDVQFAVEQVLQEEHFDASHVALMGGSHGGFISCHLIGQY
  PETYRACVARNPVINIASMLGSTDIPDWCVVEAGFPFSSDCLPDLSVWAEMLDKSPIRYI
  PQVKTPLLLMLGQEDRRVPFKQGMEYYRALKTRNVPVRLLLYPKSTHALSEVEVESDSFM
  NAVLWLRTHLGS

• Sequence length: 732

Pathways

Reactome:

Neutrophil degranulation
Eukaryotic Translation Termination

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANOREXIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinoma of lung	Lung carcinoma	BEFREE	2159253		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	24554718		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	29802529		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	9615709		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	9615709		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	1678685, 1861871, 2921777, 2924296		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASDB_DG	17804789		★☆☆☆☆ Found in Text Mining only
Hurthle Cell Tumor	Tumor	BEFREE	7906993		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	29051269		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	29051269		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	30038710		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	2159253		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	2392324		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	9615709		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	2573734		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	24260504	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	1346775, 1797089, 2924296, 7522539, 9615709		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	17241160		★☆☆☆☆ Found in Text Mining only
Oral Mucositis	Oral Mucositis	BEFREE	30038710		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	27669226	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	31266814	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	1678685, 1861871, 2392324, 2921777, 2924296, 7906993		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	29051269		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	1346775, 1672284, 2565880		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	2006156	Associate	★☆☆☆☆ Found in Text Mining only
Stomatitis	Stomatitis	BEFREE	30038710		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	1791835		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	GWASDB_DG	21297633		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	21297633		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Syndrome	BEFREE	1982450		★☆☆☆☆ Found in Text Mining only