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
357511312023PITRM1 interaction studies with amyloidogenic nonapeptide mutants of familial Alzheimer's disease.0
357511312023PITRM1 interaction studies with amyloidogenic nonapeptide mutants of familial Alzheimer's disease.0
324912592021Functional coupling of presequence processing and degradation in human mitochondria.8
326322042021Loss of function of the mitochondrial peptidase PITRM1 induces proteotoxic stress and Alzheimer's disease-like pathology in human cerebral organoids.56
339512712021Gain of PITRM1 peptidase in cortical neurons affords protection of mitochondrial and synaptic function in an advanced age mouse model of Alzheimer's disease.4
324912592021Functional coupling of presequence processing and degradation in human mitochondria.8
326322042021Loss of function of the mitochondrial peptidase PITRM1 induces proteotoxic stress and Alzheimer's disease-like pathology in human cerebral organoids.56
339512712021Gain of PITRM1 peptidase in cortical neurons affords protection of mitochondrial and synaptic function in an advanced age mouse model of Alzheimer's disease.4
328577152020Expression of IDE and PITRM1 genes in ERN1 knockdown U87 glioma cells: effect of hypoxia and glucose deprivation.4
328577152020Expression of IDE and PITRM1 genes in ERN1 knockdown U87 glioma cells: effect of hypoxia and glucose deprivation.4
292163862019An Exome-Wide Association Study Identifies New Susceptibility Loci for Age of Smoking Initiation in African- and European-American Populations.4
292163862019An Exome-Wide Association Study Identifies New Susceptibility Loci for Age of Smoking Initiation in African- and European-American Populations.4
293838612018Functional requirement for human pitrilysin metallopeptidase 1 arginine 183, mutated in amyloidogenic neuropathy.3
297649122018Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy.19
293838612018Functional requirement for human pitrilysin metallopeptidase 1 arginine 183, mutated in amyloidogenic neuropathy.3

Citation

Dessen P

PITRM1 (pitrilysin metallopeptidase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71932/pitrm1-(pitrilysin-metallopeptidase-1)