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NPRL3 (NPR3 like, GATOR1 complex subunit)

Identity

Alias_namesC16orf35
chromosome 16 open reading frame 35
nitrogen permease regulator-like 3 (S. cerevisiae)
NPR3-like, GATOR1 complex subunit
Alias_symbol (synonym)CGTHBA
RMD11
NPR3
MARE
HS-40
Other aliasFFEVF3
HGNC (Hugo) NPRL3
LocusID (NCBI) 8131
Atlas_Id 70949
Location 16p13.3  [Link to chromosome band 16p13]
Location_base_pair Starts at 85805 and ends at 138698 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)
NPRL3 (16p13.3) / FYN (6q21)NPRL3 (16p13.3) / KIFC2 (8q24.3)NPRL3 (16p13.3) / LUC7L (16p13.3)
NPRL3 (16p13.3) / NPRL3 (16p13.3)NPRL3 LUC7LNPRL3 KIFC2

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)NPRL3   14124
Cards
Entrez_Gene (NCBI)NPRL3  8131  NPR3 like, GATOR1 complex subunit
AliasesC16orf35; CGTHBA; FFEVF3; HS-40; 
MARE; NPR3; RMD11
GeneCards (Weizmann)NPRL3
Ensembl hg19 (Hinxton)ENSG00000103148 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000103148 [Gene_View]  chr16:85805-138698 [Contig_View]  NPRL3 [Vega]
ICGC DataPortalENSG00000103148
TCGA cBioPortalNPRL3
AceView (NCBI)NPRL3
Genatlas (Paris)NPRL3
WikiGenes8131
SOURCE (Princeton)NPRL3
Genetics Home Reference (NIH)NPRL3
Genomic and cartography
GoldenPath hg38 (UCSC)NPRL3  -     chr16:85805-138698 -  16p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NPRL3  -     16p13.3   [Description]    (hg19-Feb_2009)
EnsemblNPRL3 - 16p13.3 [CytoView hg19]  NPRL3 - 16p13.3 [CytoView hg38]
Mapping of homologs : NCBINPRL3 [Mapview hg19]  NPRL3 [Mapview hg38]
OMIM600928   617118   
Gene and transcription
Genbank (Entrez)AK026990 AK090717 AK125420 AK294228 AK298795
RefSeq transcript (Entrez)NM_001039476 NM_001077350 NM_001243247 NM_001243248 NM_001243249 NM_012075
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NPRL3
Cluster EST : UnigeneHs.19699 [ NCBI ]
CGAP (NCI)Hs.19699
Alternative Splicing GalleryENSG00000103148
Gene ExpressionNPRL3 [ NCBI-GEO ]   NPRL3 [ EBI - ARRAY_EXPRESS ]   NPRL3 [ SEEK ]   NPRL3 [ MEM ]
Gene Expression Viewer (FireBrowse)NPRL3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8131
GTEX Portal (Tissue expression)NPRL3
Human Protein AtlasENSG00000103148-NPRL3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ12980   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ12980  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ12980
Splice isoforms : SwissVarQ12980
PhosPhoSitePlusQ12980
Domains : Interpro (EBI)NPR3   
Domain families : Pfam (Sanger)NPR3 (PF03666)   
Domain families : Pfam (NCBI)pfam03666   
Conserved Domain (NCBI)NPRL3
DMDM Disease mutations8131
Blocks (Seattle)NPRL3
SuperfamilyQ12980
Human Protein Atlas [tissue]ENSG00000103148-NPRL3 [tissue]
Peptide AtlasQ12980
HPRD11866
IPIIPI00015782   IPI00794295   IPI00940420   IPI00879482   IPI00879299   IPI00927006   IPI00926337   IPI00947337   
Protein Interaction databases
DIP (DOE-UCLA)Q12980
IntAct (EBI)Q12980
FunCoupENSG00000103148
BioGRIDNPRL3
STRING (EMBL)NPRL3
ZODIACNPRL3
Ontologies - Pathways
QuickGOQ12980
Ontology : AmiGOventricular septum development  molecular_function  GTPase activator activity  cellular_component  lysosomal membrane  vacuole  biological_process  negative regulation of TOR signaling  cellular response to amino acid starvation  aorta morphogenesis  TORC1 signaling  positive regulation of GTPase activity  cardiac muscle tissue development  palate development  GATOR1 complex  regulation of autophagosome assembly  
Ontology : EGO-EBIventricular septum development  molecular_function  GTPase activator activity  cellular_component  lysosomal membrane  vacuole  biological_process  negative regulation of TOR signaling  cellular response to amino acid starvation  aorta morphogenesis  TORC1 signaling  positive regulation of GTPase activity  cardiac muscle tissue development  palate development  GATOR1 complex  regulation of autophagosome assembly  
NDEx NetworkNPRL3
Atlas of Cancer Signalling NetworkNPRL3
Wikipedia pathwaysNPRL3
Orthology - Evolution
OrthoDB8131
GeneTree (enSembl)ENSG00000103148
Phylogenetic Trees/Animal Genes : TreeFamNPRL3
HOVERGENQ12980
HOGENOMQ12980
Homologs : HomoloGeneNPRL3
Homology/Alignments : Family Browser (UCSC)NPRL3
Gene fusions - Rearrangements
Fusion: TCGA_MDACCNPRL3 LUC7L
Fusion: TCGA_MDACCNPRL3 KIFC2
Tumor Fusion PortalNPRL3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNPRL3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NPRL3
dbVarNPRL3
ClinVarNPRL3
1000_GenomesNPRL3 
Exome Variant ServerNPRL3
ExAC (Exome Aggregation Consortium)ENSG00000103148
GNOMAD BrowserENSG00000103148
Genetic variants : HAPMAP8131
Genomic Variants (DGV)NPRL3 [DGVbeta]
DECIPHERNPRL3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNPRL3 
Mutations
ICGC Data PortalNPRL3 
TCGA Data PortalNPRL3 
Broad Tumor PortalNPRL3
OASIS PortalNPRL3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNPRL3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNPRL3
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
BioMutasearch NPRL3
DgiDB (Drug Gene Interaction Database)NPRL3
DoCM (Curated mutations)NPRL3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NPRL3 (select a term)
intoGenNPRL3
Cancer3DNPRL3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600928    617118   
Orphanet
DisGeNETNPRL3
MedgenNPRL3
Genetic Testing Registry NPRL3
NextProtQ12980 [Medical]
TSGene8131
GENETestsNPRL3
Target ValidationNPRL3
Huge Navigator NPRL3 [HugePedia]
snp3D : Map Gene to Disease8131
BioCentury BCIQNPRL3
ClinGenNPRL3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8131
Chemical/Pharm GKB GenePA25550
Clinical trialNPRL3
Miscellaneous
canSAR (ICR)NPRL3 (select the gene name)
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNPRL3
EVEXNPRL3
GoPubMedNPRL3
iHOPNPRL3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 13:34:04 CET 2017

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