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Pitrm1 pitrilysin metallepetidase 1 [ Mus musculus (house mouse) ]

Gene ID: 69617, updated on 5-Mar-2024

Summary

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Official Symbol
Pitrm1provided by MGI
Official Full Name
pitrilysin metallepetidase 1provided by MGI
Primary source
MGI:MGI:1916867
See related
Ensembl:ENSMUSG00000021193 AllianceGenome:MGI:1916867
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
MP1; MP-1; PreP; Ntup1; mKIAA1104; 2310012C15Rik
Summary
Predicted to enable metalloendopeptidase activity and zinc ion binding activity. Predicted to be involved in protein processing. Located in mitochondrion. Is expressed in several structures, including alimentary system; brain; embryo mesenchyme; genitourinary system; and skeletal musculature. Human ortholog(s) of this gene implicated in autosomal recessive cerebellar ataxia. Orthologous to human PITRM1 (pitrilysin metallopeptidase 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in placenta adult (RPKM 50.2), liver E14 (RPKM 33.2) and 25 other tissues See more
Orthologs
human all
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Genomic context

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Location:
13 A1; 13 3.25 cM
Exon count:
27
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (6598158..6630194)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (6548122..6580158)

Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 35671 Neighboring gene STARR-seq mESC enhancer starr_33559 Neighboring gene predicted gene, 53793 Neighboring gene STARR-seq mESC enhancer starr_33560 Neighboring gene STARR-seq mESC enhancer starr_33561 Neighboring gene STARR-positive B cell enhancer ABC_E4049 Neighboring gene phosphofructokinase, platelet Neighboring gene STARR-seq mESC enhancer starr_33564 Neighboring gene STARR-seq mESC enhancer starr_33566 Neighboring gene STARR-positive B cell enhancer ABC_E7200 Neighboring gene predicted gene, 35730 Neighboring gene predicted gene 10029

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. The Mitochondrial Peptidase Pitrilysin Degrades Islet Amyloid Polypeptide in Beta-Cells. Guan H, et al. PLoS One, 2015. PMID 26191799, Free PMC Article
  2. Expression profiling of placentomegaly associated with nuclear transplantation of mouse ES cells. Suemizu H, et al. Dev Biol, 2003 Jan 1. PMID 12490196
  3. Fine-mapping gene-by-diet interactions on chromosome 13 in a LG/J x SM/J murine model of obesity. Ehrich TH, et al. Diabetes, 2005 Jun. PMID 15919810
  4. Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration. Brunetti D, et al. EMBO Mol Med, 2016 Mar 1. PMID 26697887, Free PMC Article
  5. The metalloendopeptidase gene Pitrm1 is regulated by hedgehog signaling in the developing mouse limb and is expressed in muscle progenitors. Town L, et al. Dev Dyn, 2009 Dec. PMID 19877269

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. results suggest that pitrilysin regulates islet amyloid polypeptide in beta cells and suggest the presence of an intramitochondrial pool of islet amyloid polypeptide involved in beta-cell apoptosis.
    Title: The Mitochondrial Peptidase Pitrilysin Degrades Islet Amyloid Polypeptide in Beta-Cells.
  2. Pitrm1 is expressed in Pax3-expressing myoblast progenitors in the limb, the dermomyotome, and developing muscles of the face and torso.
    Title: The metalloendopeptidase gene Pitrm1 is regulated by hedgehog signaling in the developing mouse limb and is expressed in muscle progenitors.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (1) 

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables metalloendopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables metalloendopeptidase activity ISO
Inferred from Sequence Orthology
more info
  
enables metallopeptidase activity ISO
Inferred from Sequence Orthology
more info
  
enables peptidase activity IEA
Inferred from Electronic Annotation
more info
  
enables zinc ion binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in protein processing IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in proteolysis ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
is_active_in mitochondrial matrix IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrial matrix ISO
Inferred from Sequence Orthology
more info
  
located_in mitochondrion HDA PubMed 
located_in mitochondrion ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
presequence protease, mitochondrial
Names
nuclear transplantation upregulated protein 1
pitrilysin metalloprotease 1
pitrilysin metalloproteinase 1
NP_001347035.1
NP_660113.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001360106.1 → NP_001347035.1  presequence protease, mitochondrial isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC159228
    Related
    ENSMUSP00000021611.10, ENSMUST00000021611.10
    Conserved Domains (1) summary
    cl25707
    Location:43 → 1007
    Peptidase_M16_C; Peptidase M16 inactive domain

  2. NM_145131.1 → NP_660113.1  presequence protease, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_660113.1

    Status: VALIDATED

    Source sequence(s)
    AF513714
    Consensus CDS
    CCDS36585.1
    UniProtKB/Swiss-Prot
    Q3THC4, Q3TJI1, Q3TPP0, Q3URQ8, Q4KUG2, Q4KUG3, Q6ZPX6, Q8K411, Q922N1, Q9CV63
    Related
    ENSMUSP00000152229.2, ENSMUST00000222485.2
    Conserved Domains (4) summary
    COG1026
    Location:44 → 1008
    Cym1; Zn-dependent peptidase, M16 (insulinase) family [Posttranslational modification, protein turnover, chaperones]
    pfam00675
    Location:71 → 177
    Peptidase_M16; Insulinase (Peptidase family M16)
    pfam05193
    Location:245 → 432
    Peptidase_M16_C; Peptidase M16 inactive domain
    pfam08367
    Location:506 → 749
    M16C_assoc; Peptidase M16C associated

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000079.7 Reference GRCm39 C57BL/6J

    Range
    6598158..6630194
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_004938069.1 RNA Sequence

  2. XR_003950477.1 RNA Sequence

  3. XR_004938068.1 RNA Sequence

  4. XR_003950478.1 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8K411.1 GenPept UniProtKB/Swiss-Prot:Q8K411

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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