PITRM1 (pitrilysin metallopeptidase 1)

2014-11-01  

Identity

HGNC
LOCATION
10p15.2
LOCUSID
ALIAS
MP1,PreP
FUSION GENES

Other Information

Locus ID:

NCBI: 10531
MIM: 618211
HGNC: 17663
Ensembl: ENSG00000107959

Variants:

dbSNP: 10531
ClinVar: 10531
TCGA: ENSG00000107959
COSMIC: PITRM1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000107959ENST00000224949Q5JRX3
ENSG00000107959ENST00000380989Q5JRX3
ENSG00000107959ENST00000380994A0A0A0MRX9
ENSG00000107959ENST00000424714B1APQ1
ENSG00000107959ENST00000430362H0Y4F7
ENSG00000107959ENST00000451104Q5JRX3
ENSG00000107959ENST00000451454H0Y7L7
ENSG00000107959ENST00000455371B1APQ0

Expression (GTEx)

0
10
20
30
40
50
60

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
217503752011Decreased proteolytic activity of the mitochondrial amyloid-β degrading enzyme, PreP peptidasome, in Alzheimer's disease brain mitochondria.35
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
266978872016Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration.15
216215462011Targeting capacity and conservation of PreP homologues localization in mitochondria of different species.12
191961552009Mammalian pitrilysin: substrate specificity and mitochondrial targeting.11
201983152010Association of genetic variants with hemorrhagic stroke in Japanese individuals.11
197248952009Association of gene polymorphisms with chronic kidney disease in Japanese individuals.7
197248952009Association of gene polymorphisms with chronic kidney disease in Japanese individuals.7
230413492012In vitro oxidative inactivation of human presequence protease (hPreP).7

Citation

Dessen P

PITRM1 (pitrilysin metallopeptidase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71932/pitrm1