Gene Gene information from NCBI Gene database.
Entrez ID 4734
Gene name NEDD4 E3 ubiquitin protein ligase
Gene symbol NEDD4
Synonyms (NCBI Gene)
NEDD4-1RPF1
Chromosome 15
Chromosome location 15q21.3
Summary This gene is the founding member of the NEDD4 family of HECT ubiquitin ligases that function in the ubiquitin proteasome system of protein degradation. The encoded protein contains an N-terminal calcium and phospholipid binding C2 domain followed by multi
miRNA miRNA information provided by mirtarbase database.
654
miRTarBase ID miRNA Experiments Reference
MIRT001612 hsa-let-7b-5p pSILAC 18668040
MIRT007131 hsa-miR-30c-5p qRT-PCR 23418453
MIRT016194 hsa-miR-590-3p Sequencing 20371350
MIRT022426 hsa-miR-124-3p Microarray 18668037
MIRT001612 hsa-let-7b-5p Proteomics;Other 18668040
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
SIRT2 Repression 23175188
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
117
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 17996703
GO:0000151 Component Ubiquitin ligase complex IEA
GO:0000151 Component Ubiquitin ligase complex ISS
GO:0000785 Component Chromatin IDA 17996703
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602278 7727 ENSG00000069869
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P46934
Protein name E3 ubiquitin-protein ligase NEDD4 (EC 2.3.2.26) (Cell proliferation-inducing gene 53 protein) (HECT-type E3 ubiquitin transferase NEDD4) (Neural precursor cell expressed developmentally down-regulated protein 4) (NEDD-4)
Protein function E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Specifically ubiquitinates 'Lys-63' in target proteins (PubM
PDB 2KPZ , 2KQ0 , 2M3O , 2XBB , 2XBF , 3B7Y , 4BBN , 4BE8 , 4N7F , 4N7H , 5AHT , 5C7J , 5C91
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00397 WW 612 641 WW domain Domain
PF00397 WW 769 798 WW domain Domain
PF00397 WW 842 871 WW domain Domain
PF00397 WW 894 923 WW domain Domain
PF00632 HECT 1013 1318 HECT-domain (ubiquitin-transferase) Domain
Sequence
MAQSLRLHFAARRSNTYPLSETSGDDLDSHVHMCFKRPTRISTSNVVQMKLTPRQTALAP
LIKENVQSQERSSVPSSENVNKKSSCLQISLQPTRYSGYLQSSNVLADSDDASFTCILKD
GIYSSAVVDNELNAVNDGHLVSSPAICSGSLSNFSTSDNGSYSSNGSDFGSCASITSGGS
YTNSVISDSSSYTFPPSDDTFLGGNLPSDSTSNRSVPNRNTTPCEIFSRSTSTDPFVQDD
LEHGLEIMKLPVSRNTKIPLKRYSSLVIFPRSPSTTRPTSPTSLCTLLSKGSYQTSHQFI
ISPSEIAHNEDGTSAKGFLSTAVNGLRLSKTICTPGEVRDIRPLHRKGSLQKKIVLSNNT
PRQTVCEKSSEGYSCVSVHFTQRKAATLDCETTNGDCKPEMSEIKLNSDSEYIKLMHRTS
ACLPSSQNVDCQININGELERPHSQMNKNHGILRRSISLGGAYPNISCLSSLKHNCSKGG
PSQLLIKFASGNEGKVDNLSRDSNRDCTNELSNSCKTRDDFLGQVDVPLYPLPTENPRLE
RPYTFKDFVLHPRSHKSRVKGYLRLKMTYLPKTSGSEDDNAEQAEELEPGWVVLDQPDAA
CHLQQQQEPSPLPPGWEERQDILGRTYYVNHESRRTQWKRPTPQDNLTDAENGNIQLQAQ
RAFTTRRQISEETESVDNRESSENWEIIREDEATMYSNQAFPSPPPSSNLDVPTHLAEEL
NARLTIFGNSAVSQPASSSNHSSRRGSLQAYTFEEQPTLPVLLPTSSGLPPGWEEKQDER
GRSYYVDHNSRTTTWTKP
TVQATVETSQLTSSQSSAGPQSQASTSDSGQQVTQPSEIEQG
FLPKGWEVRHAPNGRPFFIDHNTKTTTWEDPRLKIPAHLRGKTSLDTSNDLGPLPPGWEE
RTHTDGRIFYINHNIKRTQWEDP
RLENVAITGPAVPYSRDYKRKYEFFRRKLKKQNDIPN
KFEMKLRRATVLEDSYRRIMGVKRADFLKARLWIEFDGEKGLDYGGVAREWFFLISKEMF
NPYYGLFEYSATDNYTLQINPNSGLCNEDHLSYFKFIGRVAGMAVYHGKLLDGFFIRPFY
KMMLHKPITLHDMESVDSEYYNSLRWILENDPTELDLRFIIDEELFGQTHQHELKNGGSE
IVVTNKNKKEYIYLVIQWRFVNRIQKQMAAFKEGFFELIPQDLIKIFDENELELLMCGLG
DVDVNDWREHTKYKNGYSANHQVIQWFWKAVLMMDSEKRIRLLQFVTGTSRVPMNGFAEL
YGSNGPQSFTVEQWGTPEKLPRAHTCFNRLDLPPYESFEELWDKLQMAIENTQGFDGV
D
Sequence length 1319
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Ubiquitin mediated proteolysis
Endocytosis
Tight junction
Epstein-Barr virus infection
  ISG15 antiviral mechanism
Downregulation of ERBB4 signaling
Regulation of PTEN localization
Regulation of PTEN stability and activity
Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Autism Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CATARACT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 29271375, 29455656
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 28423617
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 28423617
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 28029182
★☆☆☆☆
Found in Text Mining only
Asthenozoospermia Asthenozoospermia Pubtator 36471356 Associate
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 28029182
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism BEFREE 23471985
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autistic Disorder Autism Pubtator 23471985 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autosomal Recessive Polycystic Kidney Disease Polycystic kidney disease BEFREE 28798345
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder BEFREE 11840194
★★☆☆☆
Found in Text Mining + Unknown/Other Associations