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Aliases for PARL Gene

Aliases for PARL Gene

  • Presenilin Associated Rhomboid Like 2 3 5
  • EC 3.4.21.105 4 61
  • PSARL 3 4
  • Presenilins-Associated Rhomboid-Like Protein, Mitochondrial 3
  • Mitochondrial Intramembrane-Cleaving Protease PARL 3
  • Mitochondrial Intramembrane Cleaving Protease PARL 4
  • Presenilin Associated, Rhomboid-Like 2
  • 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 HGNC Symbols for PARL Gene

  • PSARL

Previous GeneCards Identifiers for PARL Gene

  • GC03M180317
  • GC03M184541
  • GC03M185030
  • GC03M183547
  • GC03M180956

Summaries for PARL Gene

Entrez Gene Summary for PARL Gene

  • This gene encodes a member of the rhomboid family of intramembrane serine proteases that is localized to the inner mitochondrial membrane. The encoded protein regulates mitochondrial remodeling and apoptosis through regulated substrate proteolysis. Proteolytic processing of the encoded protein results in the release of a small peptide, P-beta, which may transit to the nucleus. Mutations in this gene may be associated with Parkinson's disease. [provided by RefSeq, May 2016]

GeneCards Summary for PARL Gene

PARL (Presenilin Associated Rhomboid Like) is a Protein Coding gene. Diseases associated with PARL include Spastic Paraplegia 7, Autosomal Recessive and Leber Optic Atrophy. GO annotations related to this gene include serine-type endopeptidase activity and endopeptidase activity. An important paralog of this gene is ENSG00000283765.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PARL Gene

Genomics for PARL Gene

Regulatory Elements for PARL Gene

Enhancers for PARL Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G183876 1 Ensembl ENCODE 23.3 +7.1 7117 2.0 HDAC1 MAX CEBPG ZNF766 L3MBTL2 E2F5 CEBPB MNT ZNF592 GABPA PARL ABCC5 MAP6D1 ALG3 ECE2 VWA5B2 MIR1224 CAMK2N2 EIF2B5 FAM131A
GH03G183510 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.1 +373.2 373193 1.5 DDX20 EBF1 ZBTB40 RELA ZNF664 ZNF316 ZNF143 RELB IKZF2 MAFK KLHL6 RPS3P3 PARL KLHL24 YEATS2 YEATS2-AS1 KLHL6-AS1 ENSG00000271682
GH03G183913 0.8 ENCODE 20.4 -29.3 -29334 2.8 SOX13 PKNOX1 FOXA2 SAP130 NFIB RARA ZNF121 CBX5 HNF4G NR2F6 ABCC5 PARL RPSAP31 EIF2B5 VWA5B2 HTR3C CAMK2N2 MAP6D1 CYP2AB1P PIR62380
GH03G183843 1.1 Ensembl ENCODE 14.5 +39.7 39662 2.6 PKNOX1 FOXA2 JUN CEBPG ZFHX2 CTBP1 ZNF316 GATA3 SCRT2 FOSL2 PARL MAP6D1 ENSG00000283765
GH03G183883 1.2 ENCODE 13.2 +0.6 573 2.4 MLX CREB3L1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC PPARGC1A PARL YEATS2-AS1 ABCC5 MAP6D1 ENSG00000283765
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PARL on UCSC Golden Path with GeneCards custom track

Promoters for PARL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000162857 405 2200 MLX CREB3L1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC PPARGC1A

Genomic Location for PARL Gene

Chromosome:
3
Start:
183,826,488 bp from pter
End:
183,884,933 bp from pter
Size:
58,446 bases
Orientation:
Minus strand

Genomic View for PARL Gene

Genes around PARL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PARL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PARL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Selected DME Specific Peptides for PARL Gene

Q9H300:
  • FFDHAAHLGGALFG
  • RKEINKWWN
  • SIVNILGQEQF
  • IMTVLAAVCTKIPE
  • RTMIRYFTSNPASKVLCSPMLLSTFSHFSLFHMAANMYV
  • LSDGQRTVTGIIAAN
  • FTVGFTGC
  • YGHELIW
  • GPSLGASG

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.
  • Ubiquitination at Lys75, Lys136, and posLast=362362
  • Modification sites at PhosphoSitePlus

Domains & Families for PARL Gene

Gene Families for PARL Gene

Protein Domains for PARL Gene

Suggested Antigen Peptide Sequences for PARL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H300

UniProtKB/Swiss-Prot:

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

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
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity IEA --
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:

Animal Model Products

  • Taconic Biosciences Mouse Models for PARL

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PARL
  • Addgene plasmids for PARL

No data available for Human Phenotype Ontology , Transcription Factor Targets 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 (PubMed:17116872). {ECO:0000269 PubMed:17116872}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PARL gene
Compartment Confidence
mitochondrion 5
nucleus 4
peroxisome 1
endoplasmic reticulum 1
cytosol 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:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PARL: view

Pathways & Interactions for PARL Gene

No Data Available

Gene Ontology (GO) - Biological Process for PARL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IMP,IEA 21426348
GO:0006851 mitochondrial calcium ion transport TAS --
GO:0010821 regulation of mitochondrion organization IMP 21355049
GO:0030162 regulation of proteolysis IGI 21355049
GO:0033619 membrane protein proteolysis TAS 24522549
genes like me logo Genes that share ontologies with PARL: view

No data available for Pathways by source and SIGNOR curated interactions for PARL Gene

Drugs & Compounds for PARL Gene

No Compound Related Data Available

Transcripts for PARL Gene

Unigene Clusters for PARL Gene

Presenilin associated, rhomboid-like:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PARL
  • Addgene plasmids for PARL

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for PARL Gene

Protein differential expression in normal tissues from HIPED for PARL Gene

This gene is overexpressed in Nasal epithelium (57.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PARL Gene



NURSA nuclear receptor signaling pathways regulating expression of PARL Gene:

PARL

SOURCE GeneReport for Unigene cluster for PARL Gene:

Hs.478469

Evidence on tissue expression from TISSUES for PARL Gene

  • Lung(4.4)
  • Nervous system(3.3)
genes like me logo Genes that share expression patterns with PARL: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PARL Gene

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 34 35
  • 99.82 (n)
dog
(Canis familiaris)
Mammalia PARL 34 35
  • 93.05 (n)
cow
(Bos Taurus)
Mammalia PARL 34 35
  • 92.57 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 91 (a)
OneToMany
-- 35
  • 70 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Parl 34 16 35
  • 87.09 (n)
rat
(Rattus norvegicus)
Mammalia Parl 34
  • 85.5 (n)
oppossum
(Monodelphis domestica)
Mammalia PARL 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves PARL 34 35
  • 71.91 (n)
lizard
(Anolis carolinensis)
Reptilia PARL 35
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia parl 34
  • 69.38 (n)
Str.16379 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.4319 34
zebrafish
(Danio rerio)
Actinopterygii PARL (1 of 2) 35
  • 67 (a)
OneToMany
LOC792889 34
  • 64.86 (n)
parla 35
  • 54 (a)
OneToMany
Dr.337 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4994 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002626 34
  • 52.69 (n)
fruit fly
(Drosophila melanogaster)
Insecta rho-7 36 34 35
  • 52.19 (n)
worm
(Caenorhabditis elegans)
Secernentea rom-5 35
  • 35 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PCP1 35 37
  • 23 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC13E7.11 34
  • 47.55 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8594 35
  • 25 (a)
OneToOne
Species where no ortholog for PARL was found in the sources mined by GeneCards:
  • 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

Paralogs for PARL Gene

Pseudogenes.org Pseudogenes for PARL Gene

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

Variants for PARL Gene

Sequence variations from dbSNP and Humsavar for PARL Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs571537271 Uncertain significance 183,867,956(+) AAGCA(C/T)TTCTC nc-transcript-variant, reference, missense, utr-variant-5-prime
rs1000053611 -- 183,881,397(+) GATTA(C/T)AGGCG intron-variant
rs1000102627 -- 183,844,170(+) TTAAC(C/T)AAAGC intron-variant
rs1000124261 -- 183,869,026(+) CTGTA(A/G)CAGCA intron-variant
rs1000127779 -- 183,878,070(+) ACAGG(A/C)GTGAG intron-variant

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

Variant ID Type Subtype PubMed ID
esv2512102 CNV insertion 19546169
esv3598932 CNV loss 21293372
esv3598933 CNV gain 21293372
nsv520163 CNV gain 19592680
nsv592656 CNV gain 21841781
nsv820085 CNV loss 19587683

Variation tolerance for PARL Gene

Residual Variation Intolerance Score: 65.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.16; 92.35% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PARL Gene

Human Gene Mutation Database (HGMD)
PARL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PARL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PARL Gene

Disorders for PARL Gene

MalaCards: The human disease database

(2) MalaCards diseases for PARL Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
spastic paraplegia 7, autosomal recessive
  • hereditary spastic paraplegia 7
leber optic atrophy
  • leber congenital amaurosis
- elite association - COSMIC cancer census association via MalaCards
Search PARL in MalaCards View complete list of genes associated with diseases

Relevant External Links for PARL

Genetic Association Database (GAD)
PARL
Human Genome Epidemiology (HuGE) Navigator
PARL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PARL
genes like me logo Genes that share disorders with PARL: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 22 46 64
  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 22 64
  3. Genetic variation in PARL influences mitochondrial content. (PMID: 19862556) Curran J.E. … Kissebah A.H. (Hum. Genet. 2010) 3 22 64
  4. No association between the SNPs (rs3749446 and rs1402000) in the PARL gene and LHON in Chinese patients with m.11778G>A. (PMID: 20711738) Zhang A.M. … Yao Y.G. (Hum. Genet. 2010) 3 46 64
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64

Products for PARL Gene

  • Addgene plasmids for PARL
  • Addgene plasmids for PARL

Sources for PARL Gene

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