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

Gene ID: 381038, updated on 6-Jun-2024

Summary

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
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Genomic context

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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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
 
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

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_001005767.5NP_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:207348
    Rhomboid; Rhomboid family
  2. NM_001417571.1NP_001404500.1  presenilin-associated rhomboid-like protein, mitochondrial isoform 3 precursor

    Status: VALIDATED

    Source sequence(s)
    AC154526
    UniProtKB/TrEMBL
    A0A338P6U4
  3. NM_001417573.1NP_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_001417574.1NP_001404503.1  presenilin-associated rhomboid-like protein, mitochondrial isoform 4 precursor

    Status: VALIDATED

    Source sequence(s)
    AC154526
    UniProtKB/TrEMBL
    A0A338P6A0
  5. NM_001417575.1NP_001404504.1  presenilin-associated rhomboid-like protein, mitochondrial isoform 4 precursor

    Status: VALIDATED

    Source sequence(s)
    AC154526
    UniProtKB/TrEMBL
    A0A338P6A0
  6. NM_001417576.1NP_001404505.1  presenilin-associated rhomboid-like protein, mitochondrial isoform 4 precursor

    Status: VALIDATED

    Source sequence(s)
    AC154526
    UniProtKB/TrEMBL
    A0A338P6A0
  7. NM_001417577.1NP_001404506.1  presenilin-associated rhomboid-like protein, mitochondrial isoform 4 precursor

    Status: VALIDATED

    Source sequence(s)
    AC154526
    UniProtKB/TrEMBL
    A0A338P6A0
  8. NM_001417579.1NP_001404508.1  presenilin-associated rhomboid-like protein, mitochondrial isoform 5 precursor

    Status: VALIDATED

    Source sequence(s)
    AC154526
  9. NM_001417580.1NP_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)