• Gene id: 7064

Gene Summary

• Gene Symbol: THOP1   Gene   UCSC   Ensembl
• Aliases: EP24.15, MEPD_HUMAN, MP78, TOP
• Gene name: thimet oligopeptidase 1
• Alternate names: thimet oligopeptidase, endopeptidase 24.15,
• Gene location: 19p13.3 (2785465: 2815806)     Exons: 15     NC_000019.10
• Gene summary(Entrez): 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
• OMIM: 601117

Protein Summary

• Protein general information: P52888  
  • Name: Thimet oligopeptidase (EC 3.4.24.15) (Endopeptidase 24.15) (MP78)
  • Length: 689  
  • Mass: 78840
• Sequence:

  MKPPAACAGDMADAASPCSVVNDLRWDLSAQQIEERTRELIEQTKRVYDQVGTQEFEDVSYESTLKALADVEVTY
  TVQRNILDFPQHVSPSKDIRTASTEADKKLSEFDVEMSMREDVYQRIVWLQEKVQKDSLRPEAARYLERLIKLGR
  RNGLHLPRETQENIKRIKKKLSLLCIDFNKNLNEDTTFLPFTLQELGGLPEDFLNSLEKMEDGKLKVTLKYPHYF
  PLLKKCHVPETRRKVEEAFNCRCKEENCAILKELVTLRAQKSRLLGFHTHADYVLEMNMAKTSQTVATFLDELAQ
  KLKPLGEQERAVILELKRAECERRGLPFDGRIRAWDMRYYMNQVEETRYCVDQNLLKEYFPVQVVTHGLLGIYQE
  LLGLAFHHEEGASAWHEDVRLYTARDAASGEVVGKFYLDLYPREGKYGHAACFGLQPGCLRQDGSRQIAIAAMVA
  NFTKPTADAPSLLQHDEVETYFHEFGHVMHQLCSQAEFAMFSGTHVERDFVEAPSQMLENWVWEQEPLLRMSRHY
  RTGSAVPRELLEKLIESRQANTGLFNLRQIVLAKVDQALHTQTDADPAEEYARLCQEILGVPATPGTNMPATFGH
  LAGGYDAQYYGYLWSEVYSMDMFHTRFKQEGVLNSKVGMDYRSCILRPGGSEDASAMLRRFLGRDPKQDAFLLSK
  GLQVGGCEPEPQVC

• Structural information:
  • Interpro: IPR024079  IPR024077  IPR024080  IPR001567  
  • Prosite: PS00142
  • PDB: 1S4B 2O36
  • PDBsum: 1S4B 2O36
  • STRING: ENSP00000304467
• Other Databases: GeneCards:  THOP1  Malacards:  THOP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004222	metalloendopeptidase activity	IBA	molecular function
GO:0005758	mitochondrial intermembrane space	IBA	cellular component
GO:0006508	proteolysis	IBA	biological process
GO:0006518	peptide metabolic process	IBA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0004222	metalloendopeptidase activity	IEA	molecular function
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0004222	metalloendopeptidase activity	TAS	molecular function
GO:0000209	protein polyubiquitination	TAS	biological process
GO:0004222	metalloendopeptidase activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0042277	peptide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05143	African trypanosomiasis
hsa04614	Renin-angiotensin system

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray