• Gene id: 4285

Gene Summary

• Gene Symbol: MIPEP   Gene   UCSC   Ensembl
• Aliases: COXPD31, HMIP, MIP
• Gene name: mitochondrial intermediate peptidase
• Alternate names: mitochondrial intermediate peptidase,
• Gene location: 13q12.12 (23889447: 23730188)     Exons: 21     NC_000013.11
• Gene summary(Entrez): The product of this gene performs the final step in processing a specific class of nuclear-encoded proteins targeted to the mitochondrial matrix or inner membrane. This protein is primarily involved in the maturation of oxidative phosphorylation (OXPHOS)-
• OMIM: 602241

Protein Summary

• Protein general information: Q99797  
  • Name: Mitochondrial intermediate peptidase (MIP) (EC 3.4.24.59)
  • Length: 713  
  • Mass: 80641
• Sequence:

  MLCVGRLGGLGARAAALPPRRAGRGSLEAGIRARRVSTSWSPVGAAFNVKPQGSRLDLFGERRGLFGVPELSAPE
  GFHIAQEKALRKTELLVDRACSTPPGPQTVLIFDELSDSLCRVADLADFVKIAHPEPAFREAAEEACRSIGTMVE
  KLNTNVDLYQSLQKLLADKKLVDSLDPETRRVAELFMFDFEISGIHLDKEKRKRAVDLNVKILDLSSTFLMGTNF
  PNKIEKHLLPEHIRRNFTSAGDHIIIDGLHAESPDDLVREAAYKIFLYPNAGQLKCLEELLSSRDLLAKLVGYST
  FSHRALQGTIAKNPETVMQFLEKLSDKLSERTLKDFEMIRGMKMKLNPQNSEVMPWDPPYYSGVIRAERYNIEPS
  LYCPFFSLGACMEGLNILLNRLLGISLYAEQPAKGEVWSEDVRKLAVVHESEGLLGYIYCDFFQRADKPHQDCHF
  TIRGGRLKEDGDYQLPVVVLMLNLPRSSRSSPTLLTPSMMENLFHEMGHAMHSMLGRTRYQHVTGTRCPTDFAEV
  PSILMEYFANDYRVVNQFARHYQTGQPLPKNMVSRLCESKKVCAAADMQLQVFYATLDQIYHGKHPLRNSTTDIL
  KETQEKFYGLPYVPNTAWQLRFSHLVGYGARYYSYLMSRAVASMVWKECFLQDPFNRAAGERYRREMLAHGGGRE
  PMLMVEGMLQKCPSVDDFVSALVSDLDLDFETFLMDSE

• Structural information:
  • Interpro: IPR024079  IPR024077  IPR001567  
  • Prosite: PS00142
  • STRING: ENSP00000371607
• Other Databases: GeneCards:  MIPEP  Malacards:  MIPEP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006627	protein processing involved in protein targeting to mitochondrion	IBA	biological process
GO:0006518	peptide metabolic process	IBA	biological process
GO:0006508	proteolysis	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0004222	metalloendopeptidase activity	IBA	molecular function
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:0046872	metal ion binding	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0004222	metalloendopeptidase activity	TAS	molecular function
GO:0005739	mitochondrion	TAS	cellular component
GO:0006627	protein processing involved in protein targeting to mitochondrion	TAS	biological process
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component

Diseases

Associated diseases	References
Combined oxidative phosphorylation deficiency	KEGG:H00891
Combined oxidative phosphorylation deficiency	KEGG:H00891
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq