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Aliases for PARL Gene

Aliases for PARL Gene

  • Presenilin Associated, Rhomboid-Like 2 3
  • Mitochondrial Intramembrane Cleaving Protease PARL 3 4
  • EC 3.4.21.105 4 64
  • PSARL 3 4
  • Presenilins-Associated Rhomboid-Like Protein, Mitochondrial 3
  • Mitochondrial Intramembrane-Cleaving Protease PARL 3
  • Rhomboid 7 Homolog 1 (Drosophila) 2
  • Rhomboid 7 Homolog 1 3
  • PRO2207 3
  • PSENIP2 3
  • PSARL1 3
  • RHBDS1 3

External Ids for PARL Gene

Previous Symbols for PARL Gene

  • PSARL

Summaries for PARL Gene

Entrez Gene Summary for PARL Gene

  • This gene encodes a mitochondrial integral membrane protein. Following proteolytic processing of this protein, a small peptide (P-beta) is formed and translocated to the nucleus. This gene may be involved in signal transduction via regulated intramembrane proteolysis of membrane-tethered precursor proteins. Variation in this gene has been associated with increased risk for type 2 diabetes. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

GeneCards Summary for PARL Gene

PARL (Presenilin Associated, Rhomboid-Like) is a Protein Coding gene. GO annotations related to this gene include serine-type endopeptidase activity.

UniProtKB/Swiss-Prot for PARL Gene

  • Required for the control of apoptosis during postnatal growth. Essential for proteolytic processing of an antiapoptotic form of OPA1 which prevents the release of mitochondrial cytochrome c in response to intrinsic apoptoptic signals (By similarity). Promotes changes in mitochondria morphology regulated by phosphorylation of P-beta domain.

Gene Wiki entry for PARL Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PARL Gene

Genomics for PARL Gene

Genomic Location for PARL Gene

Start:
183,825,741 bp from pter
End:
183,884,933 bp from pter
Size:
59,193 bases
Orientation:
Minus strand

Genomic View for PARL Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PARL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PARL Gene

Regulatory Elements for PARL Gene

Proteins for PARL Gene

  • Protein details for PARL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H300-PARL_HUMAN
    Recommended name:
    Presenilins-associated rhomboid-like protein, mitochondrial
    Protein Accession:
    Q9H300
    Secondary Accessions:
    • Q96CQ4
    • Q9BTJ6
    • Q9P1E3

    Protein attributes for PARL Gene

    Size:
    379 amino acids
    Molecular mass:
    42190 Da
    Quaternary structure:
    • Interacts with PSEN1 and PSEN2. Binds OPA1.

    Alternative splice isoforms for PARL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PARL Gene

Proteomics data for PARL Gene at MOPED

Post-translational modifications for PARL Gene

  • P-beta is proteolytically processed (beta-cleavage) in a PARL-dependent manner. The cleavage is inhibited when residues Ser-65, Thr-69 and Ser-70 are all phosphorylated.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys75, Lys136, and Lys362

Domains for PARL Gene

Protein Domains for PARL Gene

UniProtKB/Swiss-Prot:

PARL_HUMAN
Family:
  • Belongs to the peptidase S54 family.:
    • Q9H300
genes like me logo Genes that share domains with PARL: view

No data available for Gene Families for PARL Gene

Function for PARL Gene

Molecular function for PARL Gene

UniProtKB/Swiss-Prot CatalyticActivity: Cleaves type-1 transmembrane domains using a catalytic dyad composed of serine and histidine that are contributed by different transmembrane domains
UniProtKB/Swiss-Prot Function: Required for the control of apoptosis during postnatal growth. Essential for proteolytic processing of an antiapoptotic form of OPA1 which prevents the release of mitochondrial cytochrome c in response to intrinsic apoptoptic signals (By similarity). Promotes changes in mitochondria morphology regulated by phosphorylation of P-beta domain.

Enzyme Numbers (IUBMB) for PARL Gene

Gene Ontology (GO) - Molecular Function for PARL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004175 endopeptidase activity IMP 21426348
GO:0004252 serine-type endopeptidase activity IEA --
GO:0005515 protein binding IPI 21138942
genes like me logo Genes that share ontologies with PARL: view
genes like me logo Genes that share phenotypes with PARL: view

Animal Models for PARL Gene

MGI Knock Outs for PARL:

miRNA for PARL Gene

No data available for Transcription Factor Targeting and HOMER Transcription for PARL Gene

Localization for PARL Gene

Subcellular locations from UniProtKB/Swiss-Prot for PARL Gene

Mitochondrion inner membrane; Multi-pass membrane protein.
P-beta: Nucleus. Note=Translocated into the nucleus by an unknown mechanism.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PARL Gene COMPARTMENTS Subcellular localization image for PARL gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 1
endoplasmic reticulum 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for PARL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane TAS 21426348
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PARL: view

Pathways for PARL Gene

SuperPathways for PARL Gene

No Data Available

Interacting Proteins for PARL Gene

Gene Ontology (GO) - Biological Process for PARL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IMP 21426348
GO:0030162 regulation of proteolysis IGI 21355049
GO:0033619 membrane protein proteolysis TAS 24522549
GO:0090201 negative regulation of release of cytochrome c from mitochondria IEA --
GO:1903214 regulation of protein targeting to mitochondrion NAS 24522549
genes like me logo Genes that share ontologies with PARL: view

No data available for Pathways by source for PARL Gene

Transcripts for PARL Gene

Unigene Clusters for PARL Gene

Presenilin associated, rhomboid-like:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PARL Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b
SP1: - - -
SP2: - - - - -
SP3: - - - - - -
SP4: - -
SP5: - -
SP6: - - - -
SP7: - - - -
SP8:
SP9: - - -

Relevant External Links for PARL Gene

GeneLoc Exon Structure for
PARL
ECgene alternative splicing isoforms for
PARL

Expression for PARL Gene

mRNA expression in normal human tissues for PARL Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PARL Gene

SOURCE GeneReport for Unigene cluster for PARL Gene Hs.478469

genes like me logo Genes that share expressions with PARL: view

Orthologs for PARL Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PARL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PARL 36
  • 99.82 (n)
  • 99.74 (a)
PARL 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PARL 36
  • 92.57 (n)
  • 93.9 (a)
PARL 37
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PARL 36
  • 93.05 (n)
  • 95.25 (a)
PARL 37
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Parl 36
  • 87.09 (n)
  • 90.98 (a)
Parl 16
Parl 37
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PARL 37
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 91 (a)
OneToMany
-- 37
  • 70 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Parl 36
  • 85.5 (n)
  • 89.92 (a)
chicken
(Gallus gallus)
Aves PARL 36
  • 71.91 (n)
  • 77.93 (a)
PARL 37
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PARL 37
  • 66 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.4319 36
tropical clawed frog
(Silurana tropicalis)
Amphibia parl 36
  • 69.38 (n)
  • 70.78 (a)
Str.16379 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4994 36
zebrafish
(Danio rerio)
Actinopterygii Dr.337 36
LOC792889 36
  • 64.86 (n)
  • 68.47 (a)
PARL (1 of 2) 37
  • 67 (a)
OneToMany
parla 37
  • 54 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002626 36
  • 52.69 (n)
  • 49.03 (a)
fruit fly
(Drosophila melanogaster)
Insecta rho-7 36
  • 52.19 (n)
  • 48.04 (a)
rho-7 37
  • 41 (a)
OneToOne
rho-7 38
  • 47 (a)
worm
(Caenorhabditis elegans)
Secernentea rom-5 37
  • 35 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PCP1 37
  • 23 (a)
OneToOne
PCP1 39
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC13E7.11 36
  • 47.55 (n)
  • 37.16 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8594 37
  • 25 (a)
OneToOne
Species with no ortholog for PARL:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PARL Gene

ENSEMBL:
Gene Tree for PARL (if available)
TreeFam:
Gene Tree for PARL (if available)

Paralogs for PARL Gene

Pseudogenes.org Pseudogenes for PARL Gene

genes like me logo Genes that share paralogs with PARL: view

No data available for Paralogs for PARL Gene

Variants for PARL Gene

Sequence variations from dbSNP and Humsavar for PARL Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs9650 -- 183,829,550(-) TGAGA(C/G)CCCCA utr-variant-3-prime, intron-variant
rs13091 -- 183,842,407(-) AGTCA(C/T)TTCTC intron-variant, synonymous-codon, reference
rs262998 -- 183,833,335(-) TCAAC(A/G)TGGCT intron-variant
rs262999 -- 183,832,749(-) CTTCA(A/G)ACAAT intron-variant
rs263000 -- 183,832,655(-) GACCC(G/T)TCAGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PARL Gene

Variant ID Type Subtype PubMed ID
nsv520163 CNV Gain 19592680
nsv820085 CNV Loss 19587683
esv2512102 CNV Insertion 19546169

Relevant External Links for PARL Gene

HapMap Linkage Disequilibrium report
PARL
Human Gene Mutation Database (HGMD)
PARL

Disorders for PARL Gene

Relevant External Links for PARL

Genetic Association Database (GAD)
PARL
Human Genome Epidemiology (HuGE) Navigator
PARL
genes like me logo Genes that share disorders with PARL: view

No data available for UniProtKB/Swiss-Prot for PARL Gene

Publications for PARL Gene

  1. Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study. (PMID: 19754948) Wolf C. … Weisschuh N. (BMC Med. Genet. 2009) 3 23 49
  2. Phosphorylation and cleavage of presenilin-associated rhomboid-like protein (PARL) promotes changes in mitochondrial morphology. (PMID: 17116872) Jeyaraju D.V. … Pellegrini L. (Proc. Natl. Acad. Sci. U.S.A. 2006) 3 4 23
  3. Self-regulated cleavage of the mitochondrial intramembrane-cleaving protease PARL yields Pbeta, a nuclear-targeted peptide. (PMID: 14732705) Sik A. … Pellegrini L. (J. Biol. Chem. 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Genetic variation in PARL influences mitochondrial content. (PMID: 19862556) Curran J.E. … Kissebah A.H. (Hum. Genet. 2010) 3 23

Products for PARL Gene

  • Addgene plasmids for PARL

Sources for PARL Gene

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