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

Gene ID: 381038, updated on 3-Apr-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 autophagy of mitochondrion. 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, Apr 2022]
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

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. 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
  2. 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
  3. Structural and mechanistic basis of Parl activity and regulation. Jeyaraju DV, et al. Cell Death Differ, 2011 Sep. PMID 21415861, Free PMC Article
  4. 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
  5. The role of PARL and HtrA2 in striatal neuronal injury after transient global cerebral ischemia. Yoshioka H, et al. J Cereb Blood Flow Metab, 2013 Nov. PMID 23921894, Free PMC Article

See all (31) 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)

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 hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables peptidase activity IEA
Inferred from Electronic Annotation
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 peptidase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
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 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 ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of proteolysis ISO
Inferred from Sequence Orthology
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 membrane IEA
Inferred from Electronic Annotation
more info
  
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

  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

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

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