NEDD4L
entrez
23327
canonical
uniprot
Q96PU5
canonical
ensembl
ENSG00000049759
resolver
ensp
ENSP00000348847
resolver
ensp
ENSP00000350569
resolver
ensp
ENSP00000372301
resolver
ensp
ENSP00000383199
resolver
ensp
ENSP00000389406
resolver
ensp
ENSP00000393395
resolver
ensp
ENSP00000405440
resolver
ensp
ENSP00000411947
resolver
ensp
ENSP00000468332
resolver
ensp
ENSP00000468546
resolver
ensp
ENSP00000490696
resolver
ensp
ENSP00000502428
resolver
ensp
ENSP00000502688
resolver
ensp
ENSP00000725216
resolver
ensp
ENSP00000725217
resolver
ensp
ENSP00000748427
resolver
enst
ENST00000635997
resolver
genesymbol
NEDD4L
resolver
genesymbol_syn
KIAA0439
resolver
genesymbol_syn
NEDL3
resolver
hgnc
HGNC:7728
resolver
uniprot
A0A1B0GVY1
resolver
uniprot
B7Z2P9
resolver
uniprot
B7Z6K0
resolver
uniprot
O43165
resolver
uniprot
Q3LSM7
resolver
uniprot
Q7Z5F1
resolver
uniprot
Q7Z5F2
resolver
uniprot
Q7Z5N3
resolver
uniprot
Q8N5A7
resolver
uniprot
Q8WUU9
resolver
uniprot
Q9BW58
resolver
uniprot
Q9H2W4
resolver
uniprot
Q9NT88
resolver
uniprot_entry
A0A1B0GVY1_HUMAN
resolver
uniprot_entry
B7Z2P9_HUMAN
resolver
uniprot_entry
B7Z6K0_HUMAN
resolver
uniprot_entry
NED4L_HUMAN
resolver
uniprot_sec
O43165
resolver
uniprot_sec
Q3LSM7
resolver
uniprot_sec
Q7Z5F1
resolver
uniprot_sec
Q7Z5F2
resolver
uniprot_sec
Q7Z5N3
resolver
uniprot_sec
Q8N5A7
resolver
uniprot_sec
Q8WUU9
resolver
uniprot_sec
Q9BW58
resolver
uniprot_sec
Q9H2W4
resolver
uniprot_sec
Q9NT88
resolver
activity_regulation
ACTIVITY REGULATION: Activated by NDFIP1- and NDFIP2-binding. {ECO:0000269|PubMed:11748237, ECO:0000269|PubMed:26363003}.
uniprot
proteins
amino_acid_sequence
MATGLGEPVYGLSEDEGESRILRVKVVSGIDLAKKDIFGASDPYVKLSLYVADENRELALVQTKTIKKTLNPKWNEEFYFRVNPSNHRLLFEVFDENRLTRDDFLGQVDVPLSHLPTEDPTMERPYTFKDFLLRPRSHKSRVKGFLRLKMAYMPKNGGQDEENSDQRDDMEHGWEVVDSNDSASQHQEELPPPPLPPGWEEKVDNLGRTYYVNHNNRTTQWHRPSLMDVSSESDNNIRQINQEAAHRRFRSRRHISEDLEPEPSEGGDVPEPWETISEEVNIAGDSLGLALPPPPASPGSRTSPQELSEELSRRLQITPDSNGEQFSSLIQREPSSRLRSCSVTDAVAEQGHLPPPSAPAGRARSSTVTGGEEPTPSVAYVHTTPGLPSGWEERKDAKGRTYYVNHNNRTTTWTRPIMQLAEDGASGSATNSNNHLIEPQIRRPRSLSSPTVTLSAPLEGAKDSPVRRAVKDTLSNPQSPQPSPYNSPKPQHKVTQSFLPPGWEMRIAPNGRPFFIDHNTKTTTWEDPRLKFPVHMRSKTSLNPNDLGPLPPGWEERIHLDGRTFYIDHNSKITQWEDPRLQNPAITGPAVPYSREFKQKYDYFRKKLKKPADIPNRFEMKLHRNNIFEESYRRIMSVKRPDVLKARLWIEFESEKGLDYGGVAREWFFLLSKEMFNPYYGLFEYSATDNYTLQINPNSGLCNEDHLSYFTFIGRVAGLAVFHGKLLDGFFIRPFYKMMLGKQITLNDMESVDSEYYNSLKWILENDPTELDLMFCIDEENFGQTYQVDLKPNGSEIMVTNENKREYIDLVIQWRFVNRVQKQMNAFLEGFTELLPIDLIKIFDENELELLMCGLGDVDVNDWRQHSIYKNGYCPNHPVIQWFWKAVLLMDAEKRIRLLQFVTGTSRVPMNGFAELYGSNGPQLFTIEQWGSPEKLPRAHTCFNRLDLPPYETFEDLREKLLMAVENAQGFEGVD
uniprot
proteins
disease_involvement
DISEASE: Periventricular nodular heterotopia 7 (PVNH7) [MIM:617201]: A form of periventricular nodular heterotopia, a disorder resulting from a defect in the pattern of neuronal migration in which ectopic collections of neurons lie along the lateral ventricles of the brain or just beneath, contiguously or in isolated patches. PVNH7 is an autosomal dominant disease characterized by delayed psychomotor development, intellectual disability, and seizures in some patients. Additional features include cleft palate and toe syndactyly. {ECO:0000269|PubMed:27694961}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.2.26
uniprot
proteins
ec_number
2.3.2.36
uniprot
proteins
function
FUNCTION: E3 ubiquitin-protein ligase that mediates the polyubiquitination of lysine and cysteine residues on target proteins and is thereby implicated in the regulation of various signaling pathways including autophagy, innate immunity or DNA repair (PubMed:20064473, PubMed:31959741, PubMed:33608556). Inhibits TGF-beta signaling by triggering SMAD2 and TGFBR1 ubiquitination and proteasome-dependent degradation (PubMed:15496141). Down-regulates autophagy and cell growth by ubiquitinating and reducing cellular ULK1 or ASCT2 levels (PubMed:28820317, PubMed:31959741). Promotes ubiquitination and internalization of various plasma membrane channels such as ENaC, SCN2A/Nav1.2, SCN3A/Nav1.3, SCN5A/Nav1.5, SCN9A/Nav1.7, SCN10A/Nav1.8, KCNA3/Kv1.3, KCNH2, EAAT1, KCNQ2/Kv7.2, KCNQ3/Kv7.3 or CLC5 (PubMed:26363003, PubMed:27445338). Promotes ubiquitination and degradation of SGK1 and TNK2. Ubiquitinates BRAT1 and this ubiquitination is enhanced in the presence of NDFIP1 (PubMed:25631046). Plays a role in dendrite formation by melanocytes (PubMed:23999003). Involved in the regulation of TOR signaling (PubMed:27694961). Ubiquitinates and regulates protein levels of NTRK1 once this one is activated by NGF (PubMed:27445338). Plays a role in antiviral innate immunity by catalyzing 'Lys-29'-linked cysteine ubiquitination of TRAF3, resulting in enhanced 'Lys-48' and 'Lys-63'-linked ubiquitination of TRAF3 (PubMed:33608556). Ubiquitinates TTYH2 and TTYH3 and regulates protein levels of TTYH2 (PubMed:18577513). {ECO:0000250|UniProtKB:Q8CFI0, ECO:0000269|PubMed:12911626, ECO:0000269|PubMed:15040001, ECO:0000269|PubMed:15217910, ECO:0000269|PubMed:15489223, ECO:0000269|PubMed:15496141, ECO:0000269|PubMed:15576372, ECO:0000269|PubMed:18577513, ECO:0000269|PubMed:19144635, ECO:0000269|PubMed:23999003, ECO:0000269|PubMed:25631046, ECO:0000269|PubMed:26363003, ECO:0000269|PubMed:27445338, ECO:0000269|PubMed:27694961, ECO:0000269|PubMed:33608556}.
uniprot
proteins
mass_dalton
111932
uniprot
proteins
mutagenesis
MUTAGEN 448; /note="S->A: Abolishes interaction with 1433F."; /evidence="ECO:0000269|PubMed:15677482"; MUTAGEN 942; /note="C->S: Abolishes activity. No effect on USP36 protein levels."; /evidence="ECO:0000269|PubMed:15217910, ECO:0000269|PubMed:27445338
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein ubiquitination.
uniprot
proteins
post_translational_modification
PTM: Phosphorylated by SGK1 or PKA; which impairs interaction with SCNN. Interaction with YWHAH inhibits dephosphorylation. {ECO:0000269|PubMed:11696533, ECO:0000269|PubMed:15328345, ECO:0000269|PubMed:15677482, ECO:0000269|PubMed:20525693, ECO:0000269|PubMed:20730100}.; PTM: Auto-ubiquitinated (PubMed:19343052). Deubiquitinated by USP36, no effect on NEDD4L protein levels. Both proteins interact and regulate each other's ubiquitination levels (PubMed:27445338). {ECO:0000269|PubMed:19343052, ECO:0000269|PubMed:27445338}.
uniprot
proteins
pubmed
11046148
uniprot
proteins
pubmed
11244092
uniprot
proteins
pubmed
11696533
uniprot
proteins
pubmed
11748237
uniprot
proteins
pubmed
11840194
uniprot
proteins
pubmed
12911626
uniprot
proteins
pubmed
14556380
uniprot
proteins
pubmed
14615060
uniprot
proteins
pubmed
15040001
uniprot
proteins
pubmed
15140763
uniprot
proteins
pubmed
15217910
uniprot
proteins
pubmed
15328345
uniprot
proteins
pubmed
15489223
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15496141
uniprot
proteins
pubmed
15548568
uniprot
proteins
pubmed
15576372
uniprot
proteins
pubmed
15677482
uniprot
proteins
pubmed
16177791
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18577513
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
18819914
uniprot
proteins
pubmed
19144635
uniprot
proteins
pubmed
19343052
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19664597
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20064473
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20086093
uniprot
proteins
pubmed
20525693
uniprot
proteins
pubmed
20730100
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22024150
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23236378
uniprot
proteins
pubmed
23873930
uniprot
proteins
pubmed
23999003
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25631046
uniprot
proteins
pubmed
26363003
uniprot
proteins
pubmed
26854353
uniprot
proteins
pubmed
27445338
uniprot
proteins
pubmed
27694961
uniprot
proteins
pubmed
28820317
uniprot
proteins
pubmed
31959741
uniprot
proteins
pubmed
33608556
uniprot
proteins
pubmed
9455477
uniprot
proteins
sequence_length
975
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15496141, ECO:0000269|PubMed:18819914, ECO:0000269|PubMed:27694961}. Golgi apparatus {ECO:0000269|PubMed:26363003}. Endosome, multivesicular body {ECO:0000269|PubMed:26363003}. Note=May be recruited to exosomes by NDFIP1.
uniprot
proteins