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PITRM1 - pitrilysin metallopeptidase 1 Gene

Also Known as MP1; PreP; SCAR30

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10531

About PITRM1

Cytogenetic location: 10p15.2 Genomic coordinates (GRCh38): 10:3,137,727-3,172,841 (from NCBI)

This gene has 40 transcripts (splice variants), 233 orthologues, 6 paralogues and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 24.8), adrenal (RPKM 18.5) and 25 other tissues.

Summary

The protein encoded by this gene is an ATP-dependent metalloprotease that degrades post-cleavage mitochondrial transit peptides. The encoded protein binds zinc and can also degrade amyloid beta A4 protein, suggesting a possible role in Alzheimer's disease. [provided by RefSeq, Dec 2016]

PITRM1 Products (9)

mRNA	Protein	Name
NM_001242307.2	NP_001229236.1	presequence protease, mitochondrial isoform 1 precursor
NM_001242309.1	NP_001229238.1	presequence protease, mitochondrial isoform 3
NM_001347725.2	NP_001334654.1	presequence protease, mitochondrial isoform 4 precursor
NM_001347726.2	NP_001334655.1	presequence protease, mitochondrial isoform 5
NM_001347727.2	NP_001334656.1	presequence protease, mitochondrial isoform 6
NM_001347728.2	NP_001334657.1	presequence protease, mitochondrial isoform 7
NM_001347729.1	NP_001334658.1	presequence protease, mitochondrial isoform 8
NM_001347730.1	NP_001334659.1	presequence protease, mitochondrial isoform 9
NM_014889.4	NP_055704.2	presequence protease, mitochondrial isoform 2 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables metalloendopeptidase activity	IDA IDA: Inferred from direct assay	10360838	GOA
enables metalloendopeptidase activity	IMP IMP: Inferred from mutant phenotype	16849325	GOA
enables metallopeptidase activity	EXP EXP: Inferred from Experiment	19962426	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	24931469	GOA
enables zinc ion binding	IDA IDA: Inferred from direct assay	24931469	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in proteolysis	IDA IDA: Inferred from direct assay	10360838	GOA
involved in proteolysis	IMP IMP: Inferred from mutant phenotype	16849325	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrial matrix	IDA IDA: Inferred from direct assay	16849325	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PITRM1 Protein Structure

Peptidase_M16

Peptidase_M16_C

M16C_assoc

Peptidase_M16_C

0
200
400
600
800
1037 a.a.

Protein Preferred Names	Protein Names
presequence protease, mitochondrial	PreP peptidasome

Related Diseases

Diseases	Alias
Spinocerebellar Ataxia, Autosomal Recessive 30	SCAR30 Spinocerebellar Ataxia, Autosomal Recessive, 30
Mitochondrial Dna Depletion Syndrome 7	Ohaha Syndrome Infantile Onset Spinocerebellar Ataxia Iosca Infantile-Onset Spinocerebellar Ataxia Spinocerebellar Ataxia 8 MTDPS7 Ophthalmoplegia, Hypotonia, Ataxia, Hypacusis, And Athetosis Ophthalmoplegia-Hypotonia-Ataxia-Hypoacusis-Athetosis Syndrome Sca8 Spinocerebellar Ataxia Infantile With Sensory Neuropathy Spinocerebellar Ataxia, Infantile-Onset Ophthalmoplegia, Hypotonia, Ataxia, Hypoacusis, And Athetosis Spinocerebellar Ataxia, Infantile, With Sensory Neuropathy Spinocerebellar Ataxia 8, Formerly Sca8, Formerly Iosca, Mitochondrial Dna Depletion Syndrome 7 Ophthalmoplegia - Hypotonia - Ataxia - Hypoacusis - Athetosis Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form Mtdna Depletion Syndrome, Hepatocerebrorenal Form Mitochondrial Dna Depletion Syndrome 7 Hepatocerebral Type Ophthalmoplegia Hypotonia Ataxia Hypoacusis And Athetosis Pure Spinocerebellar Ataxia Japanese Type Sca4 Pure Japanese Type Spinocerebellar Ataxia Infantile-Onset Mitochondrial Dna Depletion Syndrome , Type 7
Spinocerebellar Ataxia 8	Spinocerebellar Ataxia Type 8 SCA8 Ataxia, Spinocerebellar, Type 8
Conduct Disorder
Charcot-Marie-Tooth Disease, Axonal, Type 2ee	CMT2EE Charcot-Marie-Tooth Neuropathy, Type 2ee Charcot-Marie-Tooth Disease Type 2ee Charcot-Marie-Tooth Disease, Axonal, 2ee
Berylliosis	Beryllium Poisoning Beryllium Disease Lung Fibrosis With Berylliosis
Fatal Infantile Cardioencephalomyopathy Due To Cytochrome C Oxidase Deficiency	Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency Fatal Infantile Cox Deficiency Fatal Infantile Cytochrome C Oxidase Deficiency Fatal Infantile Encephalocardiomyopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10580	PITRM1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	PITRM1	VGNC	VGNC:44588
Rattus norvegicus	PITRM1	RGD	RGD:1310998
Macaca mulatta	PITRM1	VGNC	VGNC:75819
Bos taurus	PITRM1	VGNC	VGNC:32923
Mus musculus	PITRM1	MGD	MGI:1916867
Felis catus	PITRM1	VGNC	VGNC:64190
Others	PITRM1	NCBI