2. Gene
  3. PITRM1 - pitrilysin metallopeptidase 1 Gene

PITRM1 - pitrilysin metallopeptidase 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as MP1; PreP; SCAR30

Gene ID: 10531 | Gene type: protein coding

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 Reference 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 Reference 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 Reference 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: Insulinase (Peptidase family M16) (96 - 177)

Peptidase_M16_C

Peptidase_M16_C: Peptidase M16 inactive domain (245 - 428)

M16C_assoc

M16C_assoc: Peptidase M16C associated (504 - 752)

Peptidase_M16_C

Peptidase_M16_C: Peptidase M16 inactive domain (772 - 956)

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  • 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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS10580 PITRM1 Human Pre-designed siRNA Set A Pre-designed Sets / 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