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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

Corresponding disease	SCAMRP mental retardation, spinocerebellar ataxia, and psychosis
Location	10p15.2      Physical location : 3.179.919 - 3.215.003
Synonym name	metalloprotease 1 (pitrilysin family)
	presequence protease, mitochondrial
	PreP peptidasome
Synonym symbol(s)	MP1, KIAA1104, MGC138192, MGC141929, PreP

DNA

TYPE	functioning gene
STRUCTURE	35.11 kb     27 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001347726 25 - 3245 NP_001334655 - 766 - 2016 26697887 NM_001347727 27 - 3443 NP_001334656 - 832 - 2016 26697887 NM_001347728 27 - 3482 NP_001334657 67 602 - 2016 26697887 NM_014889 27 - 3505 NP_055704 117.4 1037 - 2016 26697887 NM_001347725 25 - 3289 NP_001334654 - 971 - 2016 26697887 NM_001242307 27 - 3508 NP_001229236 117.6 1038 - 2016 26697887 NM_001242309 24 - 3198 NP_001229238 106.1 939 - 2016 26697887 NM_001347729 27 - 3897 NP_001334658 - 1029 - 2016 26697887 NM_001347730 25 - 3699 NP_001334659 - 963 - 2016 26697887

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