PITRM1 information

PITRM1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4L3T, 4NGE, 4RPU
Identifiers
Aliases	PITRM1, MP1, PreP, pitrilysin metallopeptidase 1, SCAR30
External IDs	OMIM: 618211; MGI: 1916867; HomoloGene: 5742; GeneCards: PITRM1; OMA:PITRM1 - orthologs
Gene location (Human)
Chr.	Chromosome 10 (human)
End	3,172,841 bp
Gene location (Mouse)
Chr.	Chromosome 13 (mouse)
End	6,630,551 bp
RNA expression pattern
	Top expressed in
	apex of heart; ; right adrenal cortex; ; anterior pituitary; ; left testis; ; left adrenal gland; ; left adrenal cortex; ; right frontal lobe; ; Descending thoracic aorta; ; right testis; ; left ovary;
	Top expressed in
	tail of embryo; ; genital tubercle; ; fetal liver hematopoietic progenitor cell; ; gastrula; ; epiblast; ; primitive streak; ; placenta; ; cumulus cell; ; hair follicle; ; endothelial cell of lymphatic vessel;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	peptidase activity; enzyme activator activity; catalytic activity; hydrolase activity; metal ion binding; metallopeptidase activity; metalloendopeptidase activity; zinc ion binding;
Cellular component	mitochondrion; mitochondrial matrix;
Biological process	positive regulation of catalytic activity; protein targeting to mitochondrion; proteolysis; protein processing;
	Sources:Amigo / QuickGO
Orthologs
	10531
	69617
	ENSG00000107959
	ENSMUSG00000021193
	Q5JRX3
	Q8K411
NM_001242307; NM_001242309; NM_014889; NM_014968; NM_001347725;
	NM_001347726; NM_001347727; NM_001347728; NM_001347729; NM_001347730
	NM_145131; NM_001360106
NP_001229236; NP_001229238; NP_001334654; NP_001334655; NP_001334656;
	NP_001334657; NP_001334658; NP_001334659; NP_055704
	NP_660113; NP_001347035
	Wikidata
View/Edit Human	View/Edit Mouse

Pitrilysin metallopeptidase 1 also known as presequence protease, mitochondrial (PreP) and metalloprotease 1 (MTP-1) is an enzyme that in humans is encoded by the PITRM1 gene.^[5]^[6]^[7] It is also sometimes called metalloprotease 1 (MP1).PreP facilitates proteostasis by utilizing an ~13300-A(3) catalytic chamber to degrade toxic peptides, including mitochondrial presequences and β-amyloid.^[8] Deficiency of PreP is found associated with Alzheimer's disease. Reduced levels of PreP via RNAi mediated knockdown have been shown to lead to defective maturation of the protein Frataxin.^[9]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000107959 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000021193 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Marusov EV (July 1977). "[Ecological sterotypes of defensive behavior in fish under the action of chemical danger signals]". Nauchnye Doklady Vysshei Shkoly. Biologicheskie Nauki (8): 67–9. PMID 1036083.
^ Kikuno R, Nagase T, Ishikawa K, Hirosawa M, Miyajima N, Tanaka A, et al. (June 1999). "Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Research. 6 (3): 197–205. doi:10.1093/dnares/6.3.197. PMID 10470851.
^ "Entrez Gene: PITRM1 pitrilysin metallopeptidase 1".
^ King JV, Liang WG, Scherpelz KP, Schilling AB, Meredith SC, Tang WJ (July 2014). "Molecular basis of substrate recognition and degradation by human presequence protease". Structure. 22 (7): 996–1007. doi:10.1016/j.str.2014.05.003. PMC 4128088. PMID 24931469.
^ Nabhan JF, Gooch RL, Piatnitski Chekler EL, Pierce B, Bulawa CE (December 2015). "Perturbation of cellular proteostasis networks identifies pathways that modulate precursor and intermediate but not mature levels of frataxin". Scientific Reports. 5 (1): 18251. Bibcode:2015NatSR...518251N. doi:10.1038/srep18251. PMC 4680912. PMID 26671574.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000107959 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000021193 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid1036083-5] Marusov EV (July 1977). "[Ecological sterotypes of defensive behavior in fish under the action of chemical danger signals]". Nauchnye Doklady Vysshei Shkoly. Biologicheskie Nauki (8): 67–9. PMID 1036083.

[pmid10470851-6] Kikuno R, Nagase T, Ishikawa K, Hirosawa M, Miyajima N, Tanaka A, et al. (June 1999). "Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Research. 6 (3): 197–205. doi:10.1093/dnares/6.3.197. PMID 10470851.

[entrez-7] "Entrez Gene: PITRM1 pitrilysin metallopeptidase 1".

[pmid24931469-8] King JV, Liang WG, Scherpelz KP, Schilling AB, Meredith SC, Tang WJ (July 2014). "Molecular basis of substrate recognition and degradation by human presequence protease". Structure. 22 (7): 996–1007. doi:10.1016/j.str.2014.05.003. PMC 4128088. PMID 24931469.

[ReferenceA-9] Nabhan JF, Gooch RL, Piatnitski Chekler EL, Pierce B, Bulawa CE (December 2015). "Perturbation of cellular proteostasis networks identifies pathways that modulate precursor and intermediate but not mature levels of frataxin". Scientific Reports. 5 (1): 18251. Bibcode:2015NatSR...518251N. doi:10.1038/srep18251. PMC 4680912. PMID 26671574.