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

Gene ID: 307081, updated on 13-Jul-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
EnsemblRapid: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, ENSRNOT00000068174.3
    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, A0A8I5ZWG5
    Related
    ENSRNOP00000073769.1, ENSRNOT00000086236.3

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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