THOP1 (thimet oligopeptidase 1)

Gene

• Entrez ID: 7064
• Gene name: Thimet oligopeptidase 1
• Gene symbol: THOP1
• Synonyms (NCBI Gene): EP24.15, MEPD_HUMAN, MP78, TOP
• Chromosome: 19
• Chromosome location: 19p13.3
• Summary: The protein encoded by this gene is a kininase that uses zinc as a cofactor. The encoded oligopeptidase cleaves cytosolic peptides, making them unavailable for display on antigen-presenting cells. This protein also cleaves neuropeptides under 20 aa in len

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020122	hsa-miR-130b-3p	Sequencing	20371350
MIRT024285	hsa-miR-215-5p	Microarray	19074876
MIRT026106	hsa-miR-192-5p	Microarray	19074876
MIRT030367	hsa-miR-24-3p	Microarray	19748357
MIRT031093	hsa-miR-19b-3p	Sequencing	20371350
MIRT046579	hsa-miR-222-3p	CLASH	23622248
MIRT041826	hsa-miR-484	CLASH	23622248
MIRT041034	hsa-miR-505-3p	CLASH	23622248
MIRT040074	hsa-miR-615-3p	CLASH	23622248
MIRT039328	hsa-miR-425-5p	CLASH	23622248
MIRT036680	hsa-miR-935	CLASH	23622248
MIRT1423532	hsa-miR-130a	CLIP-seq
MIRT1423533	hsa-miR-130b	CLIP-seq
MIRT1423534	hsa-miR-1915	CLIP-seq
MIRT1423535	hsa-miR-301a	CLIP-seq
MIRT1423536	hsa-miR-301b	CLIP-seq
MIRT1423537	hsa-miR-3065-5p	CLIP-seq
MIRT1423538	hsa-miR-3152-3p	CLIP-seq
MIRT1423539	hsa-miR-3157-5p	CLIP-seq
MIRT1423540	hsa-miR-3620	CLIP-seq
MIRT1423541	hsa-miR-3666	CLIP-seq
MIRT1423542	hsa-miR-4269	CLIP-seq
MIRT1423543	hsa-miR-4295	CLIP-seq
MIRT1423544	hsa-miR-4473	CLIP-seq
MIRT1423545	hsa-miR-454	CLIP-seq
MIRT1423546	hsa-miR-4645-5p	CLIP-seq
MIRT1423547	hsa-miR-4671-3p	CLIP-seq
MIRT1423548	hsa-miR-4673	CLIP-seq
MIRT1423549	hsa-miR-4691-3p	CLIP-seq
MIRT1423550	hsa-miR-4722-3p	CLIP-seq
MIRT1423551	hsa-miR-4726-3p	CLIP-seq
MIRT1423549	hsa-miR-4691-3p	CLIP-seq
MIRT2461444	hsa-miR-1291	CLIP-seq
MIRT1423532	hsa-miR-130a	CLIP-seq
MIRT1423533	hsa-miR-130b	CLIP-seq
MIRT1423535	hsa-miR-301a	CLIP-seq
MIRT1423536	hsa-miR-301b	CLIP-seq
MIRT1423537	hsa-miR-3065-5p	CLIP-seq
MIRT1423541	hsa-miR-3666	CLIP-seq
MIRT1423543	hsa-miR-4295	CLIP-seq
MIRT1423544	hsa-miR-4473	CLIP-seq
MIRT1423545	hsa-miR-454	CLIP-seq
MIRT1423547	hsa-miR-4671-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000209	Process	Protein polyubiquitination	TAS
GO:0004222	Function	Metalloendopeptidase activity	IBA
GO:0004222	Function	Metalloendopeptidase activity	IEA
GO:0004222	Function	Metalloendopeptidase activity	TAS	7639763
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005737	Component	Cytoplasm	IEA
GO:0005758	Component	Mitochondrial intermembrane space	IBA
GO:0005829	Component	Cytosol	TAS
GO:0006508	Process	Proteolysis	IBA
GO:0006508	Process	Proteolysis	IEA
GO:0006518	Process	Peptide metabolic process	IBA
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 601117
• HGNC: 11793
• e!Ensembl: ENSG00000172009

Protein

• UniProt ID: P52888
• Protein name: Thimet oligopeptidase (EC 3.4.24.15) (Endopeptidase 24.15) (MP78)
• Protein function: Involved in the metabolism of neuropeptides under 20 amino acid residues long. Involved in cytoplasmic peptide degradation (PubMed:17251185, PubMed:7639763). Able to degrade the amyloid-beta precursor protein and generate amyloidogenic fragments
• PDB: 1S4B, 2O36
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01432	Peptidase_M3	227 → 677	Peptidase family M3	Family

• Sequence:

  MKPPAACAGDMADAASPCSVVNDLRWDLSAQQIEERTRELIEQTKRVYDQVGTQEFEDVS
  YESTLKALADVEVTYTVQRNILDFPQHVSPSKDIRTASTEADKKLSEFDVEMSMREDVYQ
  RIVWLQEKVQKDSLRPEAARYLERLIKLGRRNGLHLPRETQENIKRIKKKLSLLCIDFNK
  NLNEDTTFLPFTLQELGGLPEDFLNSLEKMEDGKLKVTLKYPHYFPLLKKCHVPETRRKV
  EEAFNCRCKEENCAILKELVTLRAQKSRLLGFHTHADYVLEMNMAKTSQTVATFLDELAQ
  KLKPLGEQERAVILELKRAECERRGLPFDGRIRAWDMRYYMNQVEETRYCVDQNLLKEYF
  PVQVVTHGLLGIYQELLGLAFHHEEGASAWHEDVRLYTARDAASGEVVGKFYLDLYPREG
  KYGHAACFGLQPGCLRQDGSRQIAIAAMVANFTKPTADAPSLLQHDEVETYFHEFGHVMH
  QLCSQAEFAMFSGTHVERDFVEAPSQMLENWVWEQEPLLRMSRHYRTGSAVPRELLEKLI
  ESRQANTGLFNLRQIVLAKVDQALHTQTDADPAEEYARLCQEILGVPATPGTNMPATFGH
  LAGGYDAQYYGYLWSEVYSMDMFHTRFKQEGVLNSKVGMDYRSCILRPGGSEDASAMLRR
  FLGRDPKQDAFLLSKGLQVGGCEPEPQVC

• Sequence length: 689

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
THOP1-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
5q-syndrome	5q-syndrome	BEFREE	28673543		★☆☆☆☆ Found in Text Mining only
AICARDI-GOUTIERES SYNDROME	Aicardi Goutieres Syndrome	BEFREE	17149756		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	29847632, 40149871	Associate	★☆☆☆☆ Found in Text Mining only
ALZHEIMER DISEASE 2	Alzheimer disease	BEFREE	9790774		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	8824811, 9790774		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	28809398		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	28809398		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	30621982		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	28148290	Associate	★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	BEFREE	29181314		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	27589061		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	20451256, 20554328		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30414698		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	26458823		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	16357129		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	29549123, 30414698		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29455641		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	29970906		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	29970906		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25777966		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34285715	Inhibit	★☆☆☆☆ Found in Text Mining only
Conn Adenoma	Conn Adenoma	BEFREE	27777363		★☆☆☆☆ Found in Text Mining only
Corneal Dystrophies Hereditary	Corneal dystrophy	Pubtator	14502125	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	27890662		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	31071585		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	25931012		★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	24702695		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	38034016	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	29754406		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	29754406		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	28441964		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	16939812		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	21292635		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24604581		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25180910	Inhibit	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	25931012		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	25980509		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	26458823		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	31046666		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29455641		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	21292635		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	22298898		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	29549123, 30414698		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17071605, 25931012, 29019495, 29264942, 31324888, 31431000		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	29970906		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	31071585		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	28971736		★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	17299418		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	22752611		★☆☆☆☆ Found in Text Mining only
Mixed anxiety and depressive disorder	Mixed Anxiety And Depressive Disorder	BEFREE	24751725		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	36142544	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndrome with Isolated del(5q)	Myelodysplastic syndrome	BEFREE	28673543		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19913893		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	16556665		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	31431000		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	25180910		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	23958961, 27890662		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	24993351		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	27094865		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	38203854	Associate	★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	27890662		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	22298898		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	23958961, 27890662		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	31046666		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	28134081, 28148290		★☆☆☆☆ Found in Text Mining only
Schizoaffective Disorder	Schizoaffective Disorder	BEFREE	23958961		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	20185149, 20451256, 23876786		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	27583405		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	27835590		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	25980509		★☆☆☆☆ Found in Text Mining only