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    Pitrm1 pitrilysin metallopeptidase 1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 307081, updated on 13-Apr-2024

    Summary

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    Official Symbol
    Pitrm1provided by RGD
    Official Full Name
    pitrilysin metallopeptidase 1provided by RGD
    Primary source
    RGD:1310998
    See related
    Ensembl:ENSRNOG00000016511 AllianceGenome:RGD:1310998
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to enable metalloendopeptidase activity and zinc ion binding activity. Predicted to be involved in protein processing. Predicted to be located in mitochondrion. Predicted to be active in mitochondrial matrix. 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
    Biased expression in Adrenal (RPKM 587.5), Heart (RPKM 185.4) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Pitrm1 in Genome Data Viewer
    Location:
    17q12.1
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 17 NC_086035.1 (68705699..68737350, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 17 NC_051352.1 (63795670..63827317, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 17 NC_005116.4 (68477423..68509113)

    Chromosome 17 - NC_086035.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC134482869 Neighboring gene phosphofructokinase, platelet Neighboring gene zinc finger, ZZ-type containing 3, pseudogene 1 Neighboring gene uncharacterized LOC108348582

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Genetic and biochemical studies of SNPs of the mitochondrial A beta-degrading protease, hPreP. Pinho CM, et al. Neurosci Lett, 2010 Jan 22. PMID 19962426
    2. Mammalian pitrilysin: substrate specificity and mitochondrial targeting. Chow KM, et al. Biochemistry, 2009 Apr 7. PMID 19196155, Free PMC Article
    3. Cloning, expression, and characterization of human metalloprotease 1: a novel member of the pitrilysin family of metalloendoproteases. Mzhavia N, et al. DNA Cell Biol, 1999 May. PMID 10360838
    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. Molecular basis of substrate recognition and degradation by human presequence protease. King JV, et al. Structure, 2014 Jul 8. PMID 24931469, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    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 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 ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    presequence protease, mitochondrial
    Names
    pitrilysin metallepetidase 1
    pitrilysin metalloprotease 1
    NP_001100833.1
    NP_001402089.1
    XP_038951700.1

    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_001107363.2 → NP_001100833.1  presequence protease, mitochondrial isoform 1

      See identical proteins and their annotated locations for NP_001100833.1

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000017
      UniProtKB/TrEMBL
      A0A8I6AJT9, A6JLM7, D3ZUF9
      Related
      ENSRNOP00000063283.1, ENSRNOT00000068174.2
      Conserved Domains (4) summary
      COG1026
      Location:43 → 926
      Cym1; Zn-dependent peptidase, M16 (insulinase) family [Posttranslational modification, protein turnover, chaperones]
      pfam00675
      Location:95 → 176
      Peptidase_M16; Insulinase (Peptidase family M16)
      pfam05193
      Location:244 → 334
      Peptidase_M16_C; Peptidase M16 inactive domain
      pfam08367
      Location:424 → 667
      M16C_assoc; Peptidase M16C associated

    2. NM_001415160.1 → NP_001402089.1  presequence protease, mitochondrial isoform 2

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000017
      UniProtKB/TrEMBL
      A0A0G2K6D5
      Related
      ENSRNOP00000073769.1, ENSRNOT00000086236.2

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086035.1 Reference GRCr8

      Range
      68705699..68737350 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039095772.2 → XP_038951700.1  presequence protease, mitochondrial isoform X1

      UniProtKB/TrEMBL
      A0A8I5ZWG5
      Conserved Domains (1) summary
      COG1026
      Location:2 → 912
      Cym1; Zn-dependent peptidase, M16 (insulinase) family [Posttranslational modification, protein turnover, chaperones]
    Nucleotide Protein Strain
    Heading Accession and Version

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