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PARL (presenilin associated rhomboid like)

Identity

Alias_namesPSARL
presenilin associated, rhomboid-like
Alias_symbol (synonym)PRO2207
PSARL1
RHBDS1
Other aliasPSENIP2
HGNC (Hugo) PARL
LocusID (NCBI) 55486
Atlas_Id 71666
Location 3q27.1  [Link to chromosome band 3q27]
Location_base_pair Starts at 183829385 and ends at 183884908 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
PARL (3q27.1) / ABCC5 (3q27.1)PARL (3q27.1) / MAP6D1 (3q27.1)PARL (3q27.1) / PARL (3q27.1)
PARL (3q27.1) / RP1-95L4.4 ()SNHG3 (1p35.3) / PARL (3q27.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)PARL   18253
Cards
Entrez_Gene (NCBI)PARL  55486  presenilin associated rhomboid like
AliasesPRO2207; PSARL; PSARL1; PSENIP2; 
RHBDS1
GeneCards (Weizmann)PARL
Ensembl hg19 (Hinxton)ENSG00000175193 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000175193 [Gene_View]  chr3:183829385-183884908 [Contig_View]  PARL [Vega]
ICGC DataPortalENSG00000175193
TCGA cBioPortalPARL
AceView (NCBI)PARL
Genatlas (Paris)PARL
WikiGenes55486
SOURCE (Princeton)PARL
Genetics Home Reference (NIH)PARL
Genomic and cartography
GoldenPath hg38 (UCSC)PARL  -     chr3:183829385-183884908 -  3q27.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PARL  -     3q27.1   [Description]    (hg19-Feb_2009)
EnsemblPARL - 3q27.1 [CytoView hg19]  PARL - 3q27.1 [CytoView hg38]
Mapping of homologs : NCBIPARL [Mapview hg19]  PARL [Mapview hg38]
OMIM607858   
Gene and transcription
Genbank (Entrez)AF197937 AK024765 BC003653 BC014058 BG714761
RefSeq transcript (Entrez)NM_001037639 NM_001037640 NM_001324436 NM_001324437 NM_001324438 NM_018622
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PARL
Cluster EST : UnigeneHs.478469 [ NCBI ]
CGAP (NCI)Hs.478469
Alternative Splicing GalleryENSG00000175193
Gene ExpressionPARL [ NCBI-GEO ]   PARL [ EBI - ARRAY_EXPRESS ]   PARL [ SEEK ]   PARL [ MEM ]
Gene Expression Viewer (FireBrowse)PARL [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55486
GTEX Portal (Tissue expression)PARL
Human Protein AtlasENSG00000175193-PARL [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H300   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H300  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H300
Splice isoforms : SwissVarQ9H300
Catalytic activity : Enzyme3.4.21.105 [ Enzyme-Expasy ]   3.4.21.1053.4.21.105 [ IntEnz-EBI ]   3.4.21.105 [ BRENDA ]   3.4.21.105 [ KEGG ]   
PhosPhoSitePlusQ9H300
Domains : Interpro (EBI)Peptidase_S54_rhomboid_dom   
Domain families : Pfam (Sanger)Rhomboid (PF01694)   
Domain families : Pfam (NCBI)pfam01694   
Conserved Domain (NCBI)PARL
DMDM Disease mutations55486
Blocks (Seattle)PARL
SuperfamilyQ9H300
Human Protein Atlas [tissue]ENSG00000175193-PARL [tissue]
Peptide AtlasQ9H300
HPRD08484
IPIIPI00060545   IPI00186189   IPI00926173   IPI00925499   IPI00925721   IPI00925461   IPI00925675   IPI00925019   
Protein Interaction databases
DIP (DOE-UCLA)Q9H300
IntAct (EBI)Q9H300
FunCoupENSG00000175193
BioGRIDPARL
STRING (EMBL)PARL
ZODIACPARL
Ontologies - Pathways
QuickGOQ9H300
Ontology : AmiGOendopeptidase activity  endopeptidase activity  serine-type endopeptidase activity  protein binding  nucleus  mitochondrion  mitochondrial inner membrane  proteolysis  proteolysis  regulation of mitochondrion organization  integral component of membrane  regulation of proteolysis  membrane protein proteolysis  membrane protein proteolysis  regulation of protein targeting to mitochondrion  regulation of protein targeting to mitochondrion  regulation of reactive oxygen species metabolic process  
Ontology : EGO-EBIendopeptidase activity  endopeptidase activity  serine-type endopeptidase activity  protein binding  nucleus  mitochondrion  mitochondrial inner membrane  proteolysis  proteolysis  regulation of mitochondrion organization  integral component of membrane  regulation of proteolysis  membrane protein proteolysis  membrane protein proteolysis  regulation of protein targeting to mitochondrion  regulation of protein targeting to mitochondrion  regulation of reactive oxygen species metabolic process  
NDEx NetworkPARL
Atlas of Cancer Signalling NetworkPARL
Wikipedia pathwaysPARL
Orthology - Evolution
OrthoDB55486
GeneTree (enSembl)ENSG00000175193
Phylogenetic Trees/Animal Genes : TreeFamPARL
HOVERGENQ9H300
HOGENOMQ9H300
Homologs : HomoloGenePARL
Homology/Alignments : Family Browser (UCSC)PARL
Gene fusions - Rearrangements
Tumor Fusion PortalPARL
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPARL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PARL
dbVarPARL
ClinVarPARL
1000_GenomesPARL 
Exome Variant ServerPARL
ExAC (Exome Aggregation Consortium)ENSG00000175193
GNOMAD BrowserENSG00000175193
Genetic variants : HAPMAP55486
Genomic Variants (DGV)PARL [DGVbeta]
DECIPHERPARL [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPARL 
Mutations
ICGC Data PortalPARL 
TCGA Data PortalPARL 
Broad Tumor PortalPARL
OASIS PortalPARL [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPARL  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPARL
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch PARL
DgiDB (Drug Gene Interaction Database)PARL
DoCM (Curated mutations)PARL (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PARL (select a term)
intoGenPARL
Cancer3DPARL(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607858   
Orphanet
DisGeNETPARL
MedgenPARL
Genetic Testing Registry PARL
NextProtQ9H300 [Medical]
TSGene55486
GENETestsPARL
Target ValidationPARL
Huge Navigator PARL [HugePedia]
snp3D : Map Gene to Disease55486
BioCentury BCIQPARL
ClinGenPARL
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55486
Chemical/Pharm GKB GenePA134939789
Clinical trialPARL
Miscellaneous
canSAR (ICR)PARL (select the gene name)
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePARL
EVEXPARL
GoPubMedPARL
iHOPPARL
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 13:08:43 CET 2017

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