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NEDD4L (neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase)

Identity

Alias_namesneural precursor cell expressed
Alias_symbol (synonym)KIAA0439
RSP5
NEDD4-2
Other aliasNEDD4.2
PVNH7
hNEDD4-2
HGNC (Hugo) NEDD4L
LocusID (NCBI) 23327
Atlas_Id 46861
Location 18q21.31  [Link to chromosome band 18q21]
Location_base_pair Starts at 58044378 and ends at 58401540 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)
ATXN1 (6p22.3) / NEDD4L (18q21.31)CDC42BPB (14q32.32) / NEDD4L (18q21.31)CHI3L1 (1q32.1) / NEDD4L (18q21.31)
CYP4B1 (1p33) / NEDD4L (18q21.31)HAUS1 (18q21.1) / NEDD4L (18q21.31)LUZP1 (1p36.12) / NEDD4L (18q21.31)
MALAT1 (11q13.1) / NEDD4L (18q21.31)NEDD4L (18q21.31) / BCL2 (18q21.33)NEDD4L (18q21.31) / CDH19 (18q22.1)
NEDD4L (18q21.31) / HYI (1p34.2)NEDD4L (18q21.31) / IL1R1 (2q12.1)NEDD4L (18q21.31) / IMMP2L (7q31.1)
NEDD4L (18q21.31) / MORC3 (21q22.12)NEDD4L (18q21.31) / NEDD4L (18q21.31)NEDD4L (18q21.31) / PIP5K1A (1q21.3)
NEDD4L (18q21.31) / TLN2 (15q22.2)NEDD4L (18q21.31) / ZNF396 (18q12.2)SECISBP2 (9q22.2) / NEDD4L (18q21.31)
STX16 (20q13.32) / NEDD4L (18q21.31)LUZP1 1p36.12 / NEDD4L 18q21.31NEDD4L 18q21.31 / BCL2 18q21.33
NEDD4L 18q21.31 / CDH19 18q22.1NEDD4L 18q21.31 / HYI 1p34.2NEDD4L 18q21.31 / IMMP2L 7q31.1
NEDD4L 18q21.31 / MORC3 21q22.12NEDD4L 18q21.31 / TLN2 15q22.2NEDD4L 18q21.31 / ZNF396 18q12.2
SECISBP2 9q22.2 / NEDD4L 18q21.31

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 10 ]
  t(1;18)(p34;q21) NEDD4L/HYI
t(1;18)(p36;q21) LUZP1/NEDD4L
t(7;18)(q31;q21) NEDD4L/IMMP2L
t(9;18)(q22;q21) SECISBP2/NEDD4L
t(15;18)(q22;q21) NEDD4L/TLN2
t(18;18)(q12;q21) NEDD4L/ZNF396
NEDD4L/BCL2 (18q21)
NEDD4L/SERPINB5 (18q21)
t(18;18)(q21;q22) NEDD4L/CDH19
t(18;21)(q21;q22) NEDD4L/MORC3


External links

Nomenclature
HGNC (Hugo)NEDD4L   7728
Cards
Entrez_Gene (NCBI)NEDD4L  23327  neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
AliasesNEDD4-2; NEDD4.2; PVNH7; RSP5; 
hNEDD4-2
GeneCards (Weizmann)NEDD4L
Ensembl hg19 (Hinxton)ENSG00000049759 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000049759 [Gene_View]  ENSG00000049759 [Sequence]  chr18:58044378-58401540 [Contig_View]  NEDD4L [Vega]
ICGC DataPortalENSG00000049759
TCGA cBioPortalNEDD4L
AceView (NCBI)NEDD4L
Genatlas (Paris)NEDD4L
WikiGenes23327
SOURCE (Princeton)NEDD4L
Genetics Home Reference (NIH)NEDD4L
Genomic and cartography
GoldenPath hg38 (UCSC)NEDD4L  -     chr18:58044378-58401540 +  18q21.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NEDD4L  -     18q21.31   [Description]    (hg19-Feb_2009)
EnsemblNEDD4L - 18q21.31 [CytoView hg19]  NEDD4L - 18q21.31 [CytoView hg38]
Mapping of homologs : NCBINEDD4L [Mapview hg19]  NEDD4L [Mapview hg38]
OMIM606384   617201   
Gene and transcription
Genbank (Entrez)AB007899 AB071179 AF070601 AF210730 AF385931
RefSeq transcript (Entrez)NM_001144964 NM_001144965 NM_001144966 NM_001144967 NM_001144968 NM_001144969 NM_001144970 NM_001144971 NM_001243960 NM_015277
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NEDD4L
Cluster EST : UnigeneHs.185677 [ NCBI ]
CGAP (NCI)Hs.185677
Alternative Splicing GalleryENSG00000049759
Gene ExpressionNEDD4L [ NCBI-GEO ]   NEDD4L [ EBI - ARRAY_EXPRESS ]   NEDD4L [ SEEK ]   NEDD4L [ MEM ]
Gene Expression Viewer (FireBrowse)NEDD4L [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23327
GTEX Portal (Tissue expression)NEDD4L
Human Protein AtlasENSG00000049759-NEDD4L [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96PU5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96PU5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96PU5
Splice isoforms : SwissVarQ96PU5
Catalytic activity : Enzyme2.3.2.26 [ Enzyme-Expasy ]   2.3.2.262.3.2.26 [ IntEnz-EBI ]   2.3.2.26 [ BRENDA ]   2.3.2.26 [ KEGG ]   
PhosPhoSitePlusQ96PU5
Domaine pattern : Prosite (Expaxy)C2 (PS50004)    HECT (PS50237)    WW_DOMAIN_1 (PS01159)    WW_DOMAIN_2 (PS50020)   
Domains : Interpro (EBI)C2_dom    C2_domain_sf    E3_ub_ligase_SMURF1    HECT_dom    Hect_E3_ubiquitin_ligase    WW_dom    WW_dom_sf   
Domain families : Pfam (Sanger)C2 (PF00168)    HECT (PF00632)    WW (PF00397)   
Domain families : Pfam (NCBI)pfam00168    pfam00632    pfam00397   
Domain families : Smart (EMBL)C2 (SM00239)  HECTc (SM00119)  WW (SM00456)  
Conserved Domain (NCBI)NEDD4L
DMDM Disease mutations23327
Blocks (Seattle)NEDD4L
PDB (SRS)2LAJ    2LB2    2LTY    2MPT    2NSQ    2ONI    3JVZ    3JW0    5HPK   
PDB (PDBSum)2LAJ    2LB2    2LTY    2MPT    2NSQ    2ONI    3JVZ    3JW0    5HPK   
PDB (IMB)2LAJ    2LB2    2LTY    2MPT    2NSQ    2ONI    3JVZ    3JW0    5HPK   
PDB (RSDB)2LAJ    2LB2    2LTY    2MPT    2NSQ    2ONI    3JVZ    3JW0    5HPK   
Structural Biology KnowledgeBase2LAJ    2LB2    2LTY    2MPT    2NSQ    2ONI    3JVZ    3JW0    5HPK   
SCOP (Structural Classification of Proteins)2LAJ    2LB2    2LTY    2MPT    2NSQ    2ONI    3JVZ    3JW0    5HPK   
CATH (Classification of proteins structures)2LAJ    2LB2    2LTY    2MPT    2NSQ    2ONI    3JVZ    3JW0    5HPK   
SuperfamilyQ96PU5
Human Protein Atlas [tissue]ENSG00000049759-NEDD4L [tissue]
Peptide AtlasQ96PU5
HPRD05903
IPIIPI00640924   IPI00163321   IPI00645053   IPI00023287   IPI00166830   IPI00644256   IPI00643856   IPI00941170   IPI00478559   IPI00816339   IPI00816420   IPI00304945   
Protein Interaction databases
DIP (DOE-UCLA)Q96PU5
IntAct (EBI)Q96PU5
FunCoupENSG00000049759
BioGRIDNEDD4L
STRING (EMBL)NEDD4L
ZODIACNEDD4L
Ontologies - Pathways
QuickGOQ96PU5
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  protein polyubiquitination  protein polyubiquitination  regulation of membrane depolarization  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  protein binding  intracellular  nucleoplasm  cytoplasm  multivesicular body  Golgi apparatus  cytosol  plasma membrane  ubiquitin-dependent protein catabolic process  ubiquitin-dependent protein catabolic process  protein monoubiquitination  sodium ion transport  cellular sodium ion homeostasis  excretion  response to metal ion  potassium channel regulator activity  protein ubiquitination  protein ubiquitination  protein ubiquitination  protein ubiquitination  sodium channel regulator activity  viral life cycle  potassium channel inhibitor activity  sodium channel inhibitor activity  water homeostasis  regulation of protein stability  ion transmembrane transport  regulation of ion transmembrane transport  regulation of protein catabolic process  regulation of membrane potential  proteasome-mediated ubiquitin-dependent protein catabolic process  proteasome-mediated ubiquitin-dependent protein catabolic process  ion channel binding  positive regulation of protein catabolic process  positive regulation of endocytosis  regulation of dendrite morphogenesis  regulation of membrane repolarization  ubiquitin protein ligase activity  extracellular exosome  protein K48-linked ubiquitination  ventricular cardiac muscle cell action potential  regulation of potassium ion transmembrane transporter activity  negative regulation of potassium ion transmembrane transporter activity  negative regulation of potassium ion transmembrane transport  negative regulation of potassium ion transmembrane transport  negative regulation of sodium ion transmembrane transport  positive regulation of dendrite extension  negative regulation of protein localization to cell surface  negative regulation of sodium ion transmembrane transporter activity  negative regulation of sodium ion transmembrane transporter activity  positive regulation of caveolin-mediated endocytosis  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  protein polyubiquitination  protein polyubiquitination  regulation of membrane depolarization  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  protein binding  intracellular  nucleoplasm  cytoplasm  multivesicular body  Golgi apparatus  cytosol  plasma membrane  ubiquitin-dependent protein catabolic process  ubiquitin-dependent protein catabolic process  protein monoubiquitination  sodium ion transport  cellular sodium ion homeostasis  excretion  response to metal ion  potassium channel regulator activity  protein ubiquitination  protein ubiquitination  protein ubiquitination  protein ubiquitination  sodium channel regulator activity  viral life cycle  potassium channel inhibitor activity  sodium channel inhibitor activity  water homeostasis  regulation of protein stability  ion transmembrane transport  regulation of ion transmembrane transport  regulation of protein catabolic process  regulation of membrane potential  proteasome-mediated ubiquitin-dependent protein catabolic process  proteasome-mediated ubiquitin-dependent protein catabolic process  ion channel binding  positive regulation of protein catabolic process  positive regulation of endocytosis  regulation of dendrite morphogenesis  regulation of membrane repolarization  ubiquitin protein ligase activity  extracellular exosome  protein K48-linked ubiquitination  ventricular cardiac muscle cell action potential  regulation of potassium ion transmembrane transporter activity  negative regulation of potassium ion transmembrane transporter activity  negative regulation of potassium ion transmembrane transport  negative regulation of potassium ion transmembrane transport  negative regulation of sodium ion transmembrane transport  positive regulation of dendrite extension  negative regulation of protein localization to cell surface  negative regulation of sodium ion transmembrane transporter activity  negative regulation of sodium ion transmembrane transporter activity  positive regulation of caveolin-mediated endocytosis  
Pathways : KEGGUbiquitin mediated proteolysis    Endocytosis    Aldosterone-regulated sodium reabsorption   
NDEx NetworkNEDD4L
Atlas of Cancer Signalling NetworkNEDD4L
Wikipedia pathwaysNEDD4L
Orthology - Evolution
OrthoDB23327
GeneTree (enSembl)ENSG00000049759
Phylogenetic Trees/Animal Genes : TreeFamNEDD4L
HOVERGENQ96PU5
HOGENOMQ96PU5
Homologs : HomoloGeneNEDD4L
Homology/Alignments : Family Browser (UCSC)NEDD4L
Gene fusions - Rearrangements
Fusion : MitelmanLUZP1/NEDD4L [1p36.12/18q21.31]  [t(1;18)(p36;q21)]  
Fusion : MitelmanNEDD4L/BCL2 [18q21.31/18q21.33]  [t(18;18)(q21;q21)]  
Fusion : MitelmanNEDD4L/CDH19 [18q21.31/18q22.1]  [t(18;18)(q21;q22)]  
Fusion : MitelmanNEDD4L/HYI [18q21.31/1p34.2]  [t(1;18)(p34;q21)]  
Fusion : MitelmanNEDD4L/IMMP2L [18q21.31/7q31.1]  [t(7;18)(q31;q21)]  
Fusion : MitelmanNEDD4L/MORC3 [18q21.31/21q22.12]  [t(18;21)(q21;q22)]  
Fusion : MitelmanNEDD4L/TLN2 [18q21.31/15q22.2]  [t(15;18)(q22;q21)]  
Fusion : MitelmanNEDD4L/ZNF396 [18q21.31/18q12.2]  [t(18;18)(q12;q21)]  
Fusion : MitelmanSECISBP2/NEDD4L [9q22.2/18q21.31]  [t(9;18)(q22;q21)]  
Fusion PortalLUZP1 1p36.12 NEDD4L 18q21.31 BLCA
Fusion PortalNEDD4L 18q21.31 BCL2 18q21.33 BRCA
Fusion PortalNEDD4L 18q21.31 CDH19 18q22.1 HNSC
Fusion PortalNEDD4L 18q21.31 HYI 1p34.2 BLCA
Fusion PortalNEDD4L 18q21.31 IMMP2L 7q31.1 SKCM
Fusion PortalNEDD4L 18q21.31 MORC3 21q22.12 PRAD
Fusion PortalNEDD4L 18q21.31 TLN2 15q22.2 BRCA
Fusion PortalNEDD4L 18q21.31 ZNF396 18q12.2 BRCA
Fusion PortalSECISBP2 9q22.2 NEDD4L 18q21.31 LUAD
Fusion : QuiverNEDD4L
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNEDD4L [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NEDD4L
dbVarNEDD4L
ClinVarNEDD4L
1000_GenomesNEDD4L 
Exome Variant ServerNEDD4L
ExAC (Exome Aggregation Consortium)ENSG00000049759
GNOMAD BrowserENSG00000049759
Varsome BrowserNEDD4L
Genetic variants : HAPMAP23327
Genomic Variants (DGV)NEDD4L [DGVbeta]
DECIPHERNEDD4L [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNEDD4L 
Mutations
ICGC Data PortalNEDD4L 
TCGA Data PortalNEDD4L 
Broad Tumor PortalNEDD4L
OASIS PortalNEDD4L [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNEDD4L  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNEDD4L
intOGen PortalNEDD4L
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 NEDD4L
DgiDB (Drug Gene Interaction Database)NEDD4L
DoCM (Curated mutations)NEDD4L (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NEDD4L (select a term)
intoGenNEDD4L
Cancer3DNEDD4L(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606384    617201   
Orphanet
DisGeNETNEDD4L
MedgenNEDD4L
Genetic Testing Registry NEDD4L
NextProtQ96PU5 [Medical]
TSGene23327
GENETestsNEDD4L
Target ValidationNEDD4L
Huge Navigator NEDD4L [HugePedia]
snp3D : Map Gene to Disease23327
BioCentury BCIQNEDD4L
ClinGenNEDD4L
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23327
Chemical/Pharm GKB GenePA31534
Clinical trialNEDD4L
Miscellaneous
canSAR (ICR)NEDD4L (select the gene name)
Probes
Litterature
PubMed229 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNEDD4L
EVEXNEDD4L
GoPubMedNEDD4L
iHOPNEDD4L
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 6 11:25:47 CET 2018

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