mutated Ligand Binding Site gene DataBase





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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for NEDD4L
Gene summary
Basic gene Info.Gene symbolNEDD4L
Gene nameneural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
CytomapUCSC genome browser: 18q21.31
Type of geneprotein-coding
DescriptionE3 ubiquitin-protein ligase NEDD4-likeubiquitin-protein ligase Rsp5
Modification date20141222
dbXrefs MIM : 606384
Ensembl : ENSG00000049759
HPRD : 05903
Vega : OTTHUMG00000179875
ProteinUniProt: Q96PU5
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_NEDD4L
BioGPS: 23327
PathwayNCI Pathway Interaction Database: NEDD4L
Pathway Commons: NEDD4L
ContextiHOP: NEDD4L
ligand binding site mutation search in PubMed: NEDD4L
UCL Cancer Institute: NEDD4L
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0003254regulation of membrane depolarization15217910
GO:0010038response to metal ion11244092
GO:0016567protein ubiquitination15217910
GO:0034765regulation of ion transmembrane transport17289006
GO:0042391regulation of membrane potential17289006
GO:0042787protein ubiquitination involved in ubiquitin-dependent protein catabolic process21463633
GO:0043161proteasome-mediated ubiquitin-dependent protein catabolic process21463633
GO:0060306regulation of membrane repolarization21463633
GO:0070936protein K48-linked ubiquitination21463633
GO:1901016regulation of potassium ion transmembrane transporter activity17289006
GO:1901017negative regulation of potassium ion transmembrane transporter activity21463633
GO:1901380negative regulation of potassium ion transmembrane transport21463633
GO:1902306negative regulation of sodium ion transmembrane transport15217910
GO:2000009negative regulation of protein localization to cell surface21463633
GO:2000650negative regulation of sodium ion transmembrane transporter activity15217910

Ligand binding site mutations for NEDD4L

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma.

Clinical information for NEDD4L from My Cancer Genome.
Neural precursor cell expressed, developmentally down-regulated 4-like E3 ubiquitin protein ligase (NEDD4L) is a gene that encodes a protein that belongs to the Nedd4 family of HECT domain E3 ubiquitin ligases. The protein functions in the transfer of ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates. This ubiquitin transfer tags the substrate protein for degradation. Missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as endometrial cancer, intestinal cancer, and skin cancer.Related Pathways: Protein degradation/ubiquitination.Modified: December 4, 2015

Protein structure related information for NEDD4L
Relative protein structure stability change (ΔΔE) using Mupro 1.1
Mupro score denotes assessment of the effect of mutations on thermodynamic stability.
  (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability)
: nsSNV at non-LBS: nsSNV at LBS

nsSNVs sorted by the relative stability change of protein structure by each mutation
Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene.
LBSAAchange of nsSNVRelative stability change
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132)

Structure image for NEDD4L from PDB
PDB IDPDB titlePDB structure
2LAJThird WW domain of human Nedd4L in complex with doubly phosphorylated human smad3 derived peptide

Differential gene expression and gene-gene network for NEDD4L
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types

Differential co-expressed gene network based on protein-protein interaction data (CePIN)
* Left PPI network was created from samples with mutations in the LBS of NEDD4L and the right PPI network was created from samples without mutations in the LBS of NEDD4L. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for NEDD4L
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0020538Hypertension18Biomarker, GeneticVariation

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

Pharmacological information for NEDD4L
Gene expression profile of anticancer drug treated cell-lines (CCLE)
Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of NEDD4L go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of NEDD4L
Multiple alignments for Q96PU5 in multiple species
LBSAA sequence# speciesSpecies
A508WEMRIAPNGRP1Homo sapiens
A508WEQRFTPEGRA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A508WEQRYTPEGRP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E392LPPGWERRTDN2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E392LPSGWEERKDA1Homo sapiens
E393PSGWEERKDAK1Homo sapiens
E393PPGWERRTDNF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E393PPGWERRTDNL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E504LPPGWEMRIAP1Homo sapiens
E504LPSGWEQRFTP1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E504LPPGWEQRYTP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E526RTTTWVDPRRQ2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E526KTTTWEDPRLK1Homo sapiens
H214TYYVNHNNRTT1Homo sapiens
H214---LKKSNDGM1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H214---LKKSNENT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H518PFFIDHNTKTT1Homo sapiens
H518AYFVDHNTRTT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H518PYFVDHNTRTT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I516GRPFFIDHNTK1Homo sapiens
I516GRAYFVDHNTR1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I516GRPYFVDHNTR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K398ERKDAKGRTYY1Homo sapiens
K398RRTDNFGRTYY1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K398RRTDNLGRTYY1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K521VDHNTRTTTWV2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K521IDHNTKTTTWE1Homo sapiens
N213RTYYVNHNNRT1Homo sapiens
N213----LKKSNDG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N213----LKKSNEN1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N510MRIAPNGRPFF1Homo sapiens
N510QRFTPEGRAYF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N510QRYTPEGRPYF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
P509EMRIAPNGRPF1Homo sapiens
P509EQRFTPEGRAY1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
P509EQRYTPEGRPY1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R208---------LK2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R208VDNLGRTYYVN1Homo sapiens
R394SGWEERKDAKG1Homo sapiens
R394PGWERRTDNFG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R394PGWERRTDNLG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R409VNHNNRTTTWT1Homo sapiens
R409VDHNTRTTTWK1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R409VDHNTRSTTWI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R506PGWEMRIAPNG1Homo sapiens
R506SGWEQRFTPEG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R506PGWEQRYTPEG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R512IAPNGRPFFID1Homo sapiens
R512FTPEGRAYFVD1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R512YTPEGRPYFVD1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T410NHNNRTTTWTR1Homo sapiens
T410DHNTRTTTWKR1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T410DHNTRSTTWIR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T411HNNRTTTWTRP1Homo sapiens
T411HNTRTTTWKRP1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T411HNTRSTTWIRP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T412NNRTTTWTRPI1Homo sapiens
T412NTRTTTWKRPT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T412NTRSTTWIRPN1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T523HNTRTTTWVDP2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T523HNTKTTTWEDP1Homo sapiens
V212GRTYYVNHNNR1Homo sapiens
V212-----LKKSND1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V212-----LKKSNE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
W413NRTTTWTRPIM1Homo sapiens
W413TRTTTWKRPTL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
W413TRSTTWIRPNL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
W525TRTTTWVDPRR2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
W525TKTTTWEDPRL1Homo sapiens
Y210-------LKKS2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y210NLGRTYYVNHN1Homo sapiens

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