• Gene id: 10531

Gene Summary

• Gene Symbol: PITRM1   Gene   UCSC   Ensembl
• Aliases: MP1, PreP
• Gene name: pitrilysin metallopeptidase 1
• Alternate names: presequence protease, mitochondrial, PreP peptidasome, metalloprotease 1 (pitrilysin family), pitrilysin metalloproteinase 1,
• Gene location: 10p15.2 (3172840: 3137726)     Exons: 28     NC_000010.11
• Gene summary(Entrez): The protein encoded by this gene is an ATP-dependent metalloprotease that degrades post-cleavage mitochondrial transit peptides. The encoded protein binds zinc and can also degrade amyloid beta A4 protein, suggesting a possible role in Alzheimer's disease
• OMIM: 607183

SNPs

rs2291102

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.3148507G>A
NC_000010.10   g.3190699G>A
NG_052908.1   g.29335C>T
NR_038284.1   n.3954G>A|SEQ=[G/A]|GENE=PITRM1
PITRM1-AS1   100507034

Protein Summary

• Protein general information: Q5JRX3  
  • Name: Presequence protease, mitochondrial (hPreP) (EC 3.4.24. ) (Pitrilysin metalloproteinase 1) (Metalloprotease 1) (hMP1)
  • Length: 1037  
  • Mass: 117413
  • Tissue specificity: Widely expressed. Expressed at higher level in muscle and heart compared to brain, pancreas, liver, lung and placenta. {ECO
• Sequence:

  MWRCGGRQGLCVLRRLSGGHAHHRAWRWNSNRACERALQYKLGDKIHGFTVNQVTSVPELFLTAVKLTHDDTGAR
  YLHLAREDTNNLFSVQFRTTPMDSTGVPHILEHTVLCGSQKYPCRDPFFKMLNRSLSTFMNAFTASDYTLYPFST
  QNPKDFQNLLSVYLDATFFPCLRELDFWQEGWRLEHENPSDPQTPLVFKGVVFNEMKGAFTDNERIFSQHLQNRL
  LPDHTYSVVSGGDPLCIPELTWEQLKQFHATHYHPSNARFFTYGNFPLEQHLKQIHEEALSKFQKIEPSTVVPAQ
  TPWDKPREFQITCGPDSFATDPSKQTTISVSFLLPDITDTFEAFTLSLLSSLLTSGPNSPFYKALIESGLGTDFS
  PDVGYNGYTREAYFSVGLQGIAEKDIETVRSLIDRTIDEVVEKGFEDDRIEALLHKIEIQMKHQSTSFGLMLTSY
  IASCWNHDGDPVELLKLGNQLAKFRQCLQENPKFLQEKVKQYFKNNQHKLTLSMRPDDKYHEKQAQVEATKLKQK
  VEALSPGDRQQIYEKGLELRSQQSKPQDASCLPALKVSDIEPTIPVTELDVVLTAGDIPVQYCAQPTNGMVYFRA
  FSSLNTLPEELRPYVPLFCSVLTKLGCGLLDYREQAQQIELKTGGMSASPHVLPDDSHMDTYEQGVLFSSLCLDR
  NLPDMMQLWSEIFNNPCFEEEEHFKVLVKMTAQELANGIPDSGHLYASIRAGRTLTPAGDLQETFSGMDQVRLMK
  RIAEMTDIKPILRKLPRIKKHLLNGDNMRCSVNATPQQMPQTEKAVEDFLRSIGRSKKERRPVRPHTVEKPVPSS
  SGGDAHVPHGSQVIRKLVMEPTFKPWQMKTHFLMPFPVNYVGECIRTVPYTDPDHASLKILARLMTAKFLHTEIR
  EKGGAYGGGAKLSHNGIFTLYSYRDPNTIETLQSFGKAVDWAKSGKFTQQDIDEAKLSVFSTVDAPVAPSDKGMD
  HFLYGLSDEMKQAHREQLFAVSHDKLLAVSDRYLGTGKSTHGLAILGPENPKIAKDPSWIIQ

• Structural information:
  • Interpro: IPR011249  IPR011765  IPR007863  IPR013578  
  • PDB: 4L3T 4NGE 4RPU
  • PDBsum: 4L3T 4NGE 4RPU
  • DIP: 52900
  • STRING: ENSP00000370377
• Other Databases: GeneCards:  PITRM1  Malacards:  PITRM1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004222	metalloendopeptidase activity	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0005759	mitochondrial matrix	IBA	cellular component
GO:0006508	proteolysis	IDA	biological process
GO:0008270	zinc ion binding	IDA	molecular function
GO:0006508	proteolysis	IDA	biological process
GO:0004222	metalloendopeptidase activity	IDA	molecular function
GO:0004222	metalloendopeptidase activity	IDA	molecular function
GO:0005759	mitochondrial matrix	IDA	cellular component
GO:0006508	proteolysis	IMP	biological process
GO:0004222	metalloendopeptidase activity	IMP	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0008047	enzyme activator activity	TAS	molecular function
GO:0008237	metallopeptidase activity	EXP	molecular function
GO:0008237	metallopeptidase activity	EXP	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006626	protein targeting to mitochondrion	TAS	biological process
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0043085	positive regulation of catalytic activity	IEA	biological process
GO:0005759	mitochondrial matrix	IDA	cellular component
GO:0004222	metalloendopeptidase activity	IMP	molecular function
GO:0006508	proteolysis	IMP	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray