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FLASH GENE

Symbol

PITRM1

contributors: mct - updated : 06-06-2019

HGNC name	pitrilysin metalloproteinase 1
HGNC id	17663

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Digestive liver         Endocrine pancreas         Nervous brain         Respiratory lung

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Muscular

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies

homolog to murine Pfkp

Homologene

FAMILY	metalloendoprotease superfamily
	pitrilysin family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,matrix
text	localized in the mitochondrial matrix in mammalian mitochondria and is the novel mitochondrial APP-degrading enzyme

basic FUNCTION	is deemed responsible for digesting the mitochondrial targeting sequence (MTS) of proteins imported across the inner mitochondrial membrane
	genetic variation in PITRM1 may potentially contribute to mitochondrial dysfunctions
	zinc metalloendopeptidase that has been implicated in Alzheimer disease and mitochondrial peptide degradation
	is responsible for the degradation of presequences and other unstructured peptides including the amyloid-beta peptide, whose accumulation may have deleterious effects on mitochondrial function
	mitochondrial matrix enzyme, which digests oligopeptides, including the mitochondrial targeting sequences that are cleaved from proteins imported across the inner mitochondrial membrane and the mitochondrial fraction of amyloid beta (APP)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	cofactor,
	Mg2+

protein	PITRM1 regulates intermediate FXN levels
	is responsible for significant APP degradation and impairment of its activity results in APP accumulation
	mitochondrial matrix enzyme, which digests oligopeptides, including the mitochondrial targeting sequences that are cleaved from proteins imported across the inner mitochondrial membrane and the mitochondrial fraction of amyloid beta (APP)

cell & other

REGULATION

activated by

ADP/AMP or fructose biphosphate

inhibited by

ATP or citrate

ASSOCIATED DISORDERS

corresponding disease(s)

SCAMRP

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in brains of Alzheimer disease

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	hemizygous Pitrm1 +/- mouse displays slowly progressive, multisystem neurological impairment
	Pitrm1 is regulated by hedgehog signaling in the developing mouse limb and is expressed in muscle progenitors