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mutLBSgeneDB |
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| Gene summary for NEDD4L |
 Gene summary |
| Basic gene Info. | Gene symbol | NEDD4L |
| Gene name | neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase | |
| Synonyms | NEDD4-2|NEDD4.2|RSP5|hNEDD4-2 | |
| Cytomap | UCSC genome browser: 18q21.31 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001144964.1, NM_001144965.1,NM_001144966.2,NM_001144967.2,NM_001144968.1, NM_001144969.1,NM_001144970.2,NM_001144971.1,NM_001243960.1, NM_015277.5, | |
| Description | E3 ubiquitin-protein ligase NEDD4-likeubiquitin-protein ligase Rsp5 | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 606384 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000049759 | ||
| HPRD : 05903 | ||
| Vega : OTTHUMG00000179875 | ||
| Protein | UniProt: Q96PU5 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_NEDD4L | |
| BioGPS: 23327 | ||
| Pathway | NCI Pathway Interaction Database: NEDD4L | |
| KEGG: NEDD4L | ||
| REACTOME: NEDD4L | ||
| Pathway Commons: NEDD4L | ||
| Context | iHOP: NEDD4L | |
| ligand binding site mutation search in PubMed: NEDD4L | ||
| UCL Cancer Institute: NEDD4L | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0003254 | regulation of membrane depolarization | 15217910 | GO:0010038 | response to metal ion | 11244092 | GO:0016567 | protein ubiquitination | 15217910 | GO:0034765 | regulation of ion transmembrane transport | 17289006 | GO:0042391 | regulation of membrane potential | 17289006 | GO:0042787 | protein ubiquitination involved in ubiquitin-dependent protein catabolic process | 21463633 | GO:0043161 | proteasome-mediated ubiquitin-dependent protein catabolic process | 21463633 | GO:0060306 | regulation of membrane repolarization | 21463633 | GO:0070936 | protein K48-linked ubiquitination | 21463633 | GO:1901016 | regulation of potassium ion transmembrane transporter activity | 17289006 | GO:1901017 | negative regulation of potassium ion transmembrane transporter activity | 21463633 | GO:1901380 | negative regulation of potassium ion transmembrane transport | 21463633 | GO:1902306 | negative regulation of sodium ion transmembrane transport | 15217910 | GO:2000009 | negative regulation of protein localization to cell surface | 21463633 | GO:2000650 | negative regulation of sodium ion transmembrane transporter activity | 15217910 |
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| Ligand binding site mutations for NEDD4L |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | K398 | R400C | COAD | 2 | K398 | R400C | UCEC | 1 |
| 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 |
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| 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 |
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| 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. |
| LBS | AAchange of nsSNV | Relative stability change | K398 | R400C | -0.67409863 |
| (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 ID | PDB title | PDB structure | 2LAJ | Third WW domain of human Nedd4L in complex with doubly phosphorylated human smad3 derived peptide |  |
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| 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) |
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| Phenotype information for NEDD4L |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0020538 | Hypertension | 18 | Biomarker, GeneticVariation |
| umls:C0014175 | Endometriosis | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| 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. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of NEDD4L go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of NEDD4L |
| Multiple alignments for Q96PU5 in multiple species |
| LBS | AA sequence | # species | Species | A508 | WEMRIAPNGRP | 1 | Homo sapiens | A508 | WEQRFTPEGRA | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | A508 | WEQRYTPEGRP | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | E392 | LPPGWERRTDN | 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | E392 | LPSGWEERKDA | 1 | Homo sapiens | E393 | PSGWEERKDAK | 1 | Homo sapiens | E393 | PPGWERRTDNF | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | E393 | PPGWERRTDNL | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | E504 | LPPGWEMRIAP | 1 | Homo sapiens | E504 | LPSGWEQRFTP | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | E504 | LPPGWEQRYTP | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | E526 | RTTTWVDPRRQ | 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | E526 | KTTTWEDPRLK | 1 | Homo sapiens | H214 | TYYVNHNNRTT | 1 | Homo sapiens | H214 | ---LKKSNDGM | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | H214 | ---LKKSNENT | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | H518 | PFFIDHNTKTT | 1 | Homo sapiens | H518 | AYFVDHNTRTT | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | H518 | PYFVDHNTRTT | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | I516 | GRPFFIDHNTK | 1 | Homo sapiens | I516 | GRAYFVDHNTR | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | I516 | GRPYFVDHNTR | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | K398 | ERKDAKGRTYY | 1 | Homo sapiens | K398 | RRTDNFGRTYY | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | K398 | RRTDNLGRTYY | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | K521 | VDHNTRTTTWV | 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | K521 | IDHNTKTTTWE | 1 | Homo sapiens | N213 | RTYYVNHNNRT | 1 | Homo sapiens | N213 | ----LKKSNDG | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | N213 | ----LKKSNEN | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | N510 | MRIAPNGRPFF | 1 | Homo sapiens | N510 | QRFTPEGRAYF | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | N510 | QRYTPEGRPYF | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | P509 | EMRIAPNGRPF | 1 | Homo sapiens | P509 | EQRFTPEGRAY | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | P509 | EQRYTPEGRPY | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R208 | ---------LK | 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R208 | VDNLGRTYYVN | 1 | Homo sapiens | R394 | SGWEERKDAKG | 1 | Homo sapiens | R394 | PGWERRTDNFG | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | R394 | PGWERRTDNLG | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R409 | VNHNNRTTTWT | 1 | Homo sapiens | R409 | VDHNTRTTTWK | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | R409 | VDHNTRSTTWI | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R506 | PGWEMRIAPNG | 1 | Homo sapiens | R506 | SGWEQRFTPEG | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | R506 | PGWEQRYTPEG | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R512 | IAPNGRPFFID | 1 | Homo sapiens | R512 | FTPEGRAYFVD | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | R512 | YTPEGRPYFVD | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | T410 | NHNNRTTTWTR | 1 | Homo sapiens | T410 | DHNTRTTTWKR | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | T410 | DHNTRSTTWIR | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | T411 | HNNRTTTWTRP | 1 | Homo sapiens | T411 | HNTRTTTWKRP | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | T411 | HNTRSTTWIRP | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | T412 | NNRTTTWTRPI | 1 | Homo sapiens | T412 | NTRTTTWKRPT | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | T412 | NTRSTTWIRPN | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | T523 | HNTRTTTWVDP | 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | T523 | HNTKTTTWEDP | 1 | Homo sapiens | V212 | GRTYYVNHNNR | 1 | Homo sapiens | V212 | -----LKKSND | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | V212 | -----LKKSNE | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | W413 | NRTTTWTRPIM | 1 | Homo sapiens | W413 | TRTTTWKRPTL | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | W413 | TRSTTWIRPNL | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | W525 | TRTTTWVDPRR | 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | W525 | TKTTTWEDPRL | 1 | Homo sapiens | Y210 | -------LKKS | 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Y210 | NLGRTYYVNHN | 1 | Homo sapiens |
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