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    Parl presenilin associated, rhomboid-like [ Mus musculus (house mouse) ]

    Gene ID: 381038, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Parlprovided by MGI
    Official Full Name
    presenilin associated, rhomboid-likeprovided by MGI
    Primary source
    MGI:MGI:1277152
    See related
    Ensembl:ENSMUSG00000033918 AllianceGenome:MGI:1277152
    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
    Psarl; PSARL1; PRO2207; PSENIP2; D16Ertd607e
    Summary
    Enables endopeptidase activity. Involved in several processes, including mitochondrial fusion; negative regulation of apoptotic signaling pathway; and regulation of mitophagy. Located in mitochondrial inner membrane. Used to study Leigh disease. Human ortholog(s) of this gene implicated in Leber hereditary optic neuropathy; coronary artery disease; hyperinsulinism; myopia; and type 2 diabetes mellitus. Orthologous to human PARL (presenilin associated rhomboid like). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in bladder adult (RPKM 19.4), testis adult (RPKM 16.4) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Parl in Genome Data Viewer
    Location:
    16 A3; 16 12.4 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (20098570..20121090, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (20279820..20302395, complement)

    Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene MAP6 domain containing 1 Neighboring gene predicted gene, 41431 Neighboring gene predicted gene, 49566 Neighboring gene cytochrome P450, family 2, subfamily ab, polypeptide 1 Neighboring gene ATP-binding cassette, sub-family C member 5 Neighboring gene STARR-seq mESC enhancer starr_40320

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. The mitochondrial protease PARL is required for spermatogenesis. Schumacher S, et al. Commun Biol, 2024 Jan 5. PMID 38182793, Free PMC Article
    2. Mitochondrial membrane potential regulates PINK1 import and proteolytic destabilization by PARL. Jin SM, et al. J Cell Biol, 2010 Nov 29. PMID 21115803, Free PMC Article
    3. The antiapoptotic OPA1/Parl couple participates in mitochondrial adaptation to heat shock. Sanjuán Szklarz LK, et al. Biochim Biophys Acta, 2012 Oct. PMID 22579715, Free PMC Article
    4. Structural and mechanistic basis of Parl activity and regulation. Jeyaraju DV, et al. Cell Death Differ, 2011 Sep. PMID 21415861, Free PMC Article
    5. Regulation of skeletal muscle oxidative capacity and insulin signaling by the mitochondrial rhomboid protease PARL. Civitarese AE, et al. Cell Metab, 2010 May 5. PMID 20444421, Free PMC Article

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The mitochondrial protease PARL is required for spermatogenesis.
      Title: The mitochondrial protease PARL is required for spermatogenesis.
    2. Mitochondrial defects caused by PARL deficiency lead to arrested spermatogenesis and ferroptosis.
      Title: Mitochondrial defects caused by PARL deficiency lead to arrested spermatogenesis and ferroptosis.
    3. Downregulation of PARL after ischemia is a key step in ischemic neuronal injury, and that it decreases HtrA2 processing and increases neuronal vulnerability.
      Title: The role of PARL and HtrA2 in striatal neuronal injury after transient global cerebral ischemia.
    4. the OPA1/PARL dependent pathway of cristae remodeling is implicated in heat shock.
      Title: The antiapoptotic OPA1/Parl couple participates in mitochondrial adaptation to heat shock.
    5. Suppression of PARL protein in healthy myotubes lowered mitochondrial mass and insulin-stimulated glycogen synthesis and increased reactive oxygen species production.
      Title: Regulation of skeletal muscle oxidative capacity and insulin signaling by the mitochondrial rhomboid protease PARL.
    6. results indicate a different function and mechanism of Hax1 in apoptosis and re-opens the question of whether mammalian PARL, in addition to apoptosis, regulates mitochondrial stress response through Omi/HtrA2 processing.
      Title: Hax1 lacks BH modules and is peripherally associated to heavy membranes: implications for Omi/HtrA2 and PARL activity in the regulation of mitochondrial stress and apoptosis.
    7. Parl-/- mitochondria display reduced levels of OPA1, and OPA1 specifically targeted to IMS complements Parl-/- cells, substantiating the importance of PARL in OPA1 processing.(PARL protein, mouse)
      Title: Mitochondrial rhomboid PARL regulates cytochrome c release during apoptosis via OPA1-dependent cristae remodeling.
    8. Hax1, is required to suppress apoptosis in lymphocytes and neurons; suppression requires the interaction of Hax1 with the mitochondrial proteases Parl and HtrA2
      Title: Hax1-mediated processing of HtrA2 by Parl allows survival of lymphocytes and neurons.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (3)  1 citation

    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 endopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables endopeptidase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables serine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables serine-type endopeptidase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables serine-type endopeptidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in membrane protein proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in membrane protein proteolysis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mitochondrial fusion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of intrinsic apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of release of cytochrome c from mitochondria IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein processing ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein processing ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in proteolysis IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in proteolysis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in proteolysis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of mitochondrion organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of mitophagy IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of protein targeting to mitochondrion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of protein targeting to mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of proteolysis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of reactive oxygen species metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of reactive oxygen species metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in signal peptide processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in mitochondrion HDA PubMed 
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    presenilin-associated rhomboid-like protein, mitochondrial
    Names
    mitochondrial intramembrane-cleaving protease PARL
    presenilins-associated rhomboid-like protein, mitochondrial
    NP_001005767.1
    NP_001404500.1
    NP_001404502.1
    NP_001404503.1
    NP_001404504.1
    NP_001404505.1
    NP_001404506.1
    NP_001404508.1
    NP_001404509.1

    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_001005767.5 → NP_001005767.1  presenilin-associated rhomboid-like protein, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_001005767.1

      Status: VALIDATED

      Source sequence(s)
      AC154526
      Consensus CDS
      CCDS28044.1
      UniProtKB/Swiss-Prot
      Q3U9T5, Q5XJY4, Q641T5
      UniProtKB/TrEMBL
      A0A338P6U4
      Related
      ENSMUSP00000045361.9, ENSMUST00000048642.15
      Conserved Domains (1) summary
      pfam01694
      Location:207 → 348
      Rhomboid; Rhomboid family

    2. NM_001417571.1 → NP_001404500.1  presenilin-associated rhomboid-like protein, mitochondrial isoform 3 precursor

      Status: VALIDATED

      Source sequence(s)
      AC154526
      UniProtKB/TrEMBL
      A0A338P6U4

    3. NM_001417573.1 → NP_001404502.1  presenilin-associated rhomboid-like protein, mitochondrial isoform 4 precursor

      Status: VALIDATED

      Source sequence(s)
      AC154526
      UniProtKB/TrEMBL
      A0A338P6A0
      Related
      ENSMUSP00000155904.2, ENSMUST00000152887.3

    4. NM_001417574.1 → NP_001404503.1  presenilin-associated rhomboid-like protein, mitochondrial isoform 4 precursor

      Status: VALIDATED

      Source sequence(s)
      AC154526
      UniProtKB/TrEMBL
      A0A338P6A0

    5. NM_001417575.1 → NP_001404504.1  presenilin-associated rhomboid-like protein, mitochondrial isoform 4 precursor

      Status: VALIDATED

      Source sequence(s)
      AC154526
      UniProtKB/TrEMBL
      A0A338P6A0

    6. NM_001417576.1 → NP_001404505.1  presenilin-associated rhomboid-like protein, mitochondrial isoform 4 precursor

      Status: VALIDATED

      Source sequence(s)
      AC154526
      UniProtKB/TrEMBL
      A0A338P6A0

    7. NM_001417577.1 → NP_001404506.1  presenilin-associated rhomboid-like protein, mitochondrial isoform 4 precursor

      Status: VALIDATED

      Source sequence(s)
      AC154526
      UniProtKB/TrEMBL
      A0A338P6A0

    8. NM_001417579.1 → NP_001404508.1  presenilin-associated rhomboid-like protein, mitochondrial isoform 5 precursor

      Status: VALIDATED

      Source sequence(s)
      AC154526

    9. NM_001417580.1 → NP_001404509.1  presenilin-associated rhomboid-like protein, mitochondrial isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AC154526
      UniProtKB/TrEMBL
      A0A338P6U4

    RNA

    1. NR_184536.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC154526

    2. NR_184537.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC154526
      Related
      ENSMUST00000136252.8

    3. NR_184538.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC154526

    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_000082.7 Reference GRCm39 C57BL/6J

      Range
      20098570..20121090 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5XJY4.1 GenPept UniProtKB/Swiss-Prot:Q5XJY4

    Gene LinkOut

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

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