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

    Gene ID: 69617, updated on 25-May-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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    See Pitrm1 in Genome Data Viewer
    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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