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UniProtKB - Q96PU5 (NED4L_HUMAN)

Protein

E3 ubiquitin-protein ligase NEDD4-like

Gene

NEDD4L

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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. Inhibits TGF-beta signaling by triggering SMAD2 and TGFBR1 ubiquitination and proteasome-dependent degradation. 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).By similarity12 Publications

Catalytic activityi

S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N6-ubiquitinyl-[acceptor protein]-L-lysine.

Activity regulationi

Activated by NDFIP1- and NDFIP2-binding.

Pathwayi: protein ubiquitination

This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei942Glycyl thioester intermediate1

GO - Molecular functioni

  • ion channel binding Source: BHF-UCL
  • potassium channel inhibitor activity Source: BHF-UCL
  • potassium channel regulator activity Source: BHF-UCL
  • sodium channel inhibitor activity Source: BHF-UCL
  • sodium channel regulator activity Source: UniProtKB
  • ubiquitin protein ligase activity Source: GO_Central
  • ubiquitin-protein transferase activity Source: Reactome
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionTransferase
Biological processDifferentiation, Host-virus interaction, Ubl conjugation pathway

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000049759-MONOMER
BRENDAi2.3.2.B8 2681
6.3.2.19 2681
ReactomeiR-HSA-162588 Budding and maturation of HIV virion
R-HSA-2173788 Downregulation of TGF-beta receptor signaling
R-HSA-2173795 Downregulation of SMAD2/3:SMAD4 transcriptional activity
R-HSA-2672351 Stimuli-sensing channels
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation
SignaLinkiQ96PU5
SIGNORiQ96PU5
UniPathwayi
UPA00143

Names & Taxonomyi

Protein namesi
Recommended name:
E3 ubiquitin-protein ligase NEDD4-like (EC:2.3.2.26)
Alternative name(s):
HECT-type E3 ubiquitin transferase NED4L
NEDD4.2
Nedd4-2
Gene namesi
Name:NEDD4L
Synonyms:KIAA0439, NEDL3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

EuPathDBiHostDB:ENSG00000049759.16
HGNCiHGNC:7728 NEDD4L
MIMi606384 gene
neXtProtiNX_Q96PU5

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Endosome, Golgi apparatus

Pathology & Biotechi

Involvement in diseasei

Periventricular nodular heterotopia 7 (PVNH7)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:617201
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077880679Y → C in PVNH7. 1 PublicationCorresponds to variant dbSNP:rs879255599EnsemblClinVar.1
Natural variantiVAR_077881694Q → H in PVNH7; increased degradation; changed function in regulation of TOR signaling. 1 PublicationCorresponds to variant dbSNP:rs879255598EnsemblClinVar.1
Natural variantiVAR_077882893E → K in PVNH7; increased degradation; changed function in regulation of TOR signaling. 1 PublicationCorresponds to variant dbSNP:rs879255597EnsemblClinVar.1
Natural variantiVAR_077883897R → Q in PVNH7; increased degradation; changed function in regulation of TOR signaling. 1 PublicationCorresponds to variant dbSNP:rs879255596EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi448S → A: Abolishes interaction with 1433F. 1 Publication1
Mutagenesisi942C → S: Abolishes activity. No effect on USP36 protein levels. 2 Publications1

Organism-specific databases

DisGeNETi23327
MalaCardsiNEDD4L
MIMi617201 phenotype
OpenTargetsiENSG00000049759
Orphaneti98892 Periventricular nodular heterotopia
PharmGKBiPA31534

Polymorphism and mutation databases

BioMutaiNEDD4L
DMDMi73921204

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00001203232 – 975E3 ubiquitin-protein ligase NEDD4-likeAdd BLAST974

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei312PhosphoserineCombined sources1
Modified residuei318PhosphothreonineCombined sources1
Modified residuei342Phosphoserine; by WNK1 and WNK4Combined sources2 Publications1
Modified residuei367Phosphothreonine; by SGK11 Publication1
Modified residuei446PhosphoserineCombined sources1
Modified residuei448Phosphoserine; by PKA and SGK1Combined sources2 Publications1
Modified residuei449Phosphoserine; by WNK1 and WNK4Combined sources1 Publication1
Modified residuei464PhosphoserineCombined sources1
Modified residuei475PhosphoserineCombined sources1
Modified residuei479PhosphoserineCombined sources1
Modified residuei483PhosphoserineCombined sources1
Modified residuei487PhosphoserineCombined sources1

Post-translational modificationi

Phosphorylated by SGK1 or PKA; which impairs interaction with SCNN. Interaction with YWHAH inhibits dephosphorylation.5 Publications
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).2 Publications

Keywords - PTMi

Acetylation, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ96PU5
MaxQBiQ96PU5
PaxDbiQ96PU5
PeptideAtlasiQ96PU5
PRIDEiQ96PU5
ProteomicsDBi77752
77753 [Q96PU5-2]
77754 [Q96PU5-3]
77755 [Q96PU5-4]
77756 [Q96PU5-5]
77757 [Q96PU5-6]
77758 [Q96PU5-7]
77760 [Q96PU5-9]

PTM databases

iPTMnetiQ96PU5
PhosphoSitePlusiQ96PU5

Expressioni

Tissue specificityi

Ubiquitously expressed, with highest levels in prostate, pancreas and kidney (PubMed:14615060, PubMed:15496141, PubMed:19664597). Expressed in melanocytes (PubMed:23999003).4 Publications

Inductioni

By androgens in prostate, and by albumin in kidney.2 Publications

Gene expression databases

BgeeiENSG00000049759 Expressed in 213 organ(s), highest expression level in forebrain
ExpressionAtlasiQ96PU5 baseline and differential
GenevisibleiQ96PU5 HS

Organism-specific databases

HPAiHPA024618
HPA064730

Interactioni

Subunit structurei

Interacts with UBE2E3 (By similarity). Interacts with NDFIP1 and NDFIP2; this interaction activates the E3 ubiquitin-protein ligase (PubMed:26363003, PubMed:11748237). Interacts via its WW domains with SCNN1A, SCNN1B, SCNN1G, SCN1A, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SCN10A and CLCN5 (PubMed:11696533, PubMed:14556380, PubMed:15217910, PubMed:15489223, PubMed:15548568). Interacts with SMAD2, SMAD3, SMAD6 and SMAD7 (PubMed:15496141). The phosphorylated form interacts with 14-3-3 proteins (PubMed:15677482). Interacts with TNK2 (PubMed:19144635, PubMed:20086093). Interacts with WNK1 (PubMed:20525693). Interacts with SGK1 (PubMed:11696533, PubMed:20730100). Interacts (via C2 domain) with NPC2 (PubMed:19664597). Interacts with ARRDC4 (PubMed:23236378). Interacts with KCNQ1; promotes internalization of KCNQ1 (PubMed:22024150). Interacts (via domains WW1, 3 and 4) with USP36; the interaction inhibits ubiquitination of, at least, NTRK1, KCNQ2 and KCNQ3 by NEDD4L (PubMed:27445338).By similarity17 Publications
(Microbial infection) Interacts with Epstein-Barr virus LMP2A.1 Publication

Binary interactionsi

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi116915, 212 interactors
DIPiDIP-41935N
IntActiQ96PU5, 28 interactors
MINTiQ96PU5
STRINGi9606.ENSP00000383199

Structurei

Secondary structure

1975
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ96PU5
SMRiQ96PU5
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ96PU5

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini7 – 109C2PROSITE-ProRule annotationAdd BLAST103
Domaini193 – 226WW 1PROSITE-ProRule annotationAdd BLAST34
Domaini385 – 418WW 2PROSITE-ProRule annotationAdd BLAST34
Domaini497 – 530WW 3PROSITE-ProRule annotationAdd BLAST34
Domaini548 – 581WW 4PROSITE-ProRule annotationAdd BLAST34
Domaini640 – 974HECTPROSITE-ProRule annotationAdd BLAST335

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0940 Eukaryota
COG5021 LUCA
GeneTreeiENSGT00760000118966
HOVERGENiHBG004134
InParanoidiQ96PU5
KOiK13305
OMAiWERPTIL
OrthoDBiEOG091G0SS8
PhylomeDBiQ96PU5
TreeFamiTF323658

Family and domain databases

CDDicd00078 HECTc, 1 hit
cd00201 WW, 4 hits
Gene3Di2.60.40.150, 1 hit
InterProiView protein in InterPro
IPR000008 C2_dom
IPR035892 C2_domain_sf
IPR024928 E3_ub_ligase_SMURF1
IPR000569 HECT_dom
IPR035983 Hect_E3_ubiquitin_ligase
IPR001202 WW_dom
IPR036020 WW_dom_sf
PfamiView protein in Pfam
PF00168 C2, 1 hit
PF00632 HECT, 1 hit
PF00397 WW, 4 hits
PIRSFiPIRSF001569 E3_ub_ligase_SMURF1, 1 hit
PRINTSiPR00360 C2DOMAIN
SMARTiView protein in SMART
SM00239 C2, 1 hit
SM00119 HECTc, 1 hit
SM00456 WW, 4 hits
SUPFAMiSSF51045 SSF51045, 4 hits
SSF56204 SSF56204, 1 hit
PROSITEiView protein in PROSITE
PS50004 C2, 1 hit
PS50237 HECT, 1 hit
PS01159 WW_DOMAIN_1, 4 hits
PS50020 WW_DOMAIN_2, 4 hits

Sequences (8+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 8 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 8 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96PU5-1) [UniParc]FASTAAdd to basket
Also known as: Nedd4-2c

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MATGLGEPVY GLSEDEGESR ILRVKVVSGI DLAKKDIFGA SDPYVKLSLY 
        60         70         80         90        100
VADENRELAL VQTKTIKKTL NPKWNEEFYF RVNPSNHRLL FEVFDENRLT 
       110        120        130        140        150
RDDFLGQVDV PLSHLPTEDP TMERPYTFKD FLLRPRSHKS RVKGFLRLKM 
       160        170        180        190        200
AYMPKNGGQD EENSDQRDDM EHGWEVVDSN DSASQHQEEL PPPPLPPGWE 
       210        220        230        240        250
EKVDNLGRTY YVNHNNRTTQ WHRPSLMDVS SESDNNIRQI NQEAAHRRFR 
       260        270        280        290        300
SRRHISEDLE PEPSEGGDVP EPWETISEEV NIAGDSLGLA LPPPPASPGS 
       310        320        330        340        350
RTSPQELSEE LSRRLQITPD SNGEQFSSLI QREPSSRLRS CSVTDAVAEQ 
       360        370        380        390        400
GHLPPPSAPA GRARSSTVTG GEEPTPSVAY VHTTPGLPSG WEERKDAKGR 
       410        420        430        440        450
TYYVNHNNRT TTWTRPIMQL AEDGASGSAT NSNNHLIEPQ IRRPRSLSSP 
       460        470        480        490        500
TVTLSAPLEG AKDSPVRRAV KDTLSNPQSP QPSPYNSPKP QHKVTQSFLP 
       510        520        530        540        550
PGWEMRIAPN GRPFFIDHNT KTTTWEDPRL KFPVHMRSKT SLNPNDLGPL 
       560        570        580        590        600
PPGWEERIHL DGRTFYIDHN SKITQWEDPR LQNPAITGPA VPYSREFKQK 
       610        620        630        640        650
YDYFRKKLKK PADIPNRFEM KLHRNNIFEE SYRRIMSVKR PDVLKARLWI 
       660        670        680        690        700
EFESEKGLDY GGVAREWFFL LSKEMFNPYY GLFEYSATDN YTLQINPNSG 
       710        720        730        740        750
LCNEDHLSYF TFIGRVAGLA VFHGKLLDGF FIRPFYKMML GKQITLNDME 
       760        770        780        790        800
SVDSEYYNSL KWILENDPTE LDLMFCIDEE NFGQTYQVDL KPNGSEIMVT 
       810        820        830        840        850
NENKREYIDL VIQWRFVNRV QKQMNAFLEG FTELLPIDLI KIFDENELEL 
       860        870        880        890        900
LMCGLGDVDV NDWRQHSIYK NGYCPNHPVI QWFWKAVLLM DAEKRIRLLQ 
       910        920        930        940        950
FVTGTSRVPM NGFAELYGSN GPQLFTIEQW GSPEKLPRAH TCFNRLDLPP 
       960        970 
YETFEDLREK LLMAVENAQG FEGVD
Length:975
Mass (Da):111,932
Last modified:August 30, 2005 - v2
Checksum:i2C958625B4A1AB3F
GO
Isoform 2 (identifier: Q96PU5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     356-419: Missing.

Note: No experimental confirmation available.
Show »
Length:911
Mass (Da):104,922
Checksum:iCE04AAED677AA506
GO
Isoform 3 (identifier: Q96PU5-3) [UniParc]FASTAAdd to basket
Also known as: NEDD4Le

The sequence of this isoform differs from the canonical sequence as follows:
     356-459: Missing.

Note: No experimental confirmation available.
Show »
Length:871
Mass (Da):100,752
Checksum:i5E2AB9B510060D4A
GO
Isoform 4 (identifier: Q96PU5-4) [UniParc]FASTAAdd to basket
Also known as: NEDD4La, NEDD4Lb, NEDD4Lf

The sequence of this isoform differs from the canonical sequence as follows:
     1-121: Missing.

Show »
Length:854
Mass (Da):98,181
Checksum:i00C74E1661F52E7F
GO
Isoform 5 (identifier: Q96PU5-5) [UniParc]FASTAAdd to basket
Also known as: NEDD4Ld

The sequence of this isoform differs from the canonical sequence as follows:
     356-375: Missing.

Show »
Length:955
Mass (Da):110,022
Checksum:iA8BB278A37F6A6B5
GO
Isoform 6 (identifier: Q96PU5-6) [UniParc]FASTAAdd to basket
Also known as: NEDD4Lh

The sequence of this isoform differs from the canonical sequence as follows:
     1-16: MATGLGEPVYGLSEDE → MRRLAFEQ
     356-375: Missing.

Show »
Length:947
Mass (Da):109,404
Checksum:iF107E5A8E0C3BB8D
GO
Isoform 7 (identifier: Q96PU5-7) [UniParc]FASTAAdd to basket
Also known as: NEDD4Lg

The sequence of this isoform differs from the canonical sequence as follows:
     1-16: MATGLGEPVYGLSEDE → MRRLAFEQ

Show »
Length:967
Mass (Da):111,314
Checksum:i9786AC67C8CD165F
GO
Isoform 8 (identifier: Q96PU5-9) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-121: Missing.
     356-375: Missing.

Show »
Length:834
Mass (Da):96,271
Checksum:i47C33C4FB577C3DB
GO

Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1B0GVY1A0A1B0GVY1_HUMAN
E3 ubiquitin-protein ligase NEDD4-l...
NEDD4L
1,254Annotation score:
K7ERN1K7ERN1_HUMAN
E3 ubiquitin-protein ligase NEDD4-l...
NEDD4L
639Annotation score:
K7EKL1K7EKL1_HUMAN
E3 ubiquitin-protein ligase NEDD4-l...
NEDD4L
106Annotation score:
K7ENS6K7ENS6_HUMAN
E3 ubiquitin-protein ligase NEDD4-l...
NEDD4L
150Annotation score:
K7EN51K7EN51_HUMAN
E3 ubiquitin-protein ligase NEDD4-l...
NEDD4L
35Annotation score:
K7EQC5K7EQC5_HUMAN
E3 ubiquitin-protein ligase NEDD4-l...
NEDD4L
15Annotation score:
A0A087WVI6A0A087WVI6_HUMAN
E3 ubiquitin-protein ligase NEDD4-l...
NEDD4L
20Annotation score:
A0A140TA85A0A140TA85_HUMAN
E3 ubiquitin-protein ligase NEDD4-l...
NEDD4L
10Annotation score:

Sequence cautioni

The sequence BAA23711 differs from that shown. Probable cloning artifact.Curated
The sequence BAA23711 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti52A → P in AAM76729 (PubMed:14615060).Curated1
Sequence conflicti52A → P in AAM76730 (PubMed:14615060).Curated1
Sequence conflicti188E → K in AAP75706 (PubMed:14556380).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_023415355P → L Common polymorphism; impaired ability to inhibit SCNN. 1 PublicationCorresponds to variant dbSNP:rs767136811Ensembl.1
Natural variantiVAR_023416497S → R1 Publication1
Natural variantiVAR_077880679Y → C in PVNH7. 1 PublicationCorresponds to variant dbSNP:rs879255599EnsemblClinVar.1
Natural variantiVAR_077881694Q → H in PVNH7; increased degradation; changed function in regulation of TOR signaling. 1 PublicationCorresponds to variant dbSNP:rs879255598EnsemblClinVar.1
Natural variantiVAR_077882893E → K in PVNH7; increased degradation; changed function in regulation of TOR signaling. 1 PublicationCorresponds to variant dbSNP:rs879255597EnsemblClinVar.1
Natural variantiVAR_077883897R → Q in PVNH7; increased degradation; changed function in regulation of TOR signaling. 1 PublicationCorresponds to variant dbSNP:rs879255596EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0154441 – 121Missing in isoform 4 and isoform 8. 4 PublicationsAdd BLAST121
Alternative sequenceiVSP_0154461 – 16MATGL…LSEDE → MRRLAFEQ in isoform 6 and isoform 7. 1 PublicationAdd BLAST16
Alternative sequenceiVSP_015447356 – 459Missing in isoform 3. 1 PublicationAdd BLAST104
Alternative sequenceiVSP_015448356 – 419Missing in isoform 2. 1 PublicationAdd BLAST64
Alternative sequenceiVSP_043848356 – 375Missing in isoform 5, isoform 6 and isoform 8. 5 PublicationsAdd BLAST20

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF210730 mRNA Translation: AAG43524.1
AF385931 mRNA Translation: AAM46208.1
AY312514 mRNA Translation: AAP75706.1
AY112983 mRNA Translation: AAM76728.1
AY112984 mRNA Translation: AAM76729.1
AY112985 mRNA Translation: AAM76730.1
AB071179 mRNA Translation: BAB69424.1
DQ181796 mRNA Translation: ABA10330.1
AC015988 Genomic DNA No translation available.
AC090236 Genomic DNA No translation available.
AC107896 Genomic DNA No translation available.
CH471096 Genomic DNA Translation: EAW63065.1
BC000621 mRNA Translation: AAH00621.2
BC019345 mRNA Translation: AAH19345.1
BC032597 mRNA Translation: AAH32597.1
AB007899 mRNA Translation: BAA23711.1 Different initiation.
AL137469 mRNA Translation: CAB70754.1
CCDSiCCDS45872.1 [Q96PU5-1]
CCDS45873.1 [Q96PU5-5]
CCDS45874.1 [Q96PU5-7]
CCDS45875.1 [Q96PU5-4]
CCDS45876.1 [Q96PU5-9]
CCDS58632.1 [Q96PU5-2]
CCDS59323.1 [Q96PU5-6]
PIRiT46412
RefSeqiNP_001138436.1, NM_001144964.1 [Q96PU5-4]
NP_001138437.1, NM_001144965.1 [Q96PU5-4]
NP_001138438.1, NM_001144966.2 [Q96PU5-4]
NP_001138439.1, NM_001144967.2 [Q96PU5-1]
NP_001138440.1, NM_001144968.1 [Q96PU5-7]
NP_001138441.1, NM_001144969.1 [Q96PU5-6]
NP_001138442.1, NM_001144970.2 [Q96PU5-9]
NP_001138443.1, NM_001144971.1 [Q96PU5-9]
NP_001230889.1, NM_001243960.1 [Q96PU5-2]
NP_056092.2, NM_015277.5 [Q96PU5-5]
XP_016881168.1, XM_017025679.1 [Q96PU5-4]
UniGeneiHs.185677

Genome annotation databases

EnsembliENST00000256830; ENSP00000256830; ENSG00000049759 [Q96PU5-3]
ENST00000356462; ENSP00000348847; ENSG00000049759 [Q96PU5-2]
ENST00000357895; ENSP00000350569; ENSG00000049759 [Q96PU5-7]
ENST00000382850; ENSP00000372301; ENSG00000049759 [Q96PU5-5]
ENST00000400345; ENSP00000383199; ENSG00000049759 [Q96PU5-1]
ENST00000431212; ENSP00000389406; ENSG00000049759 [Q96PU5-4]
ENST00000435432; ENSP00000393395; ENSG00000049759 [Q96PU5-9]
ENST00000456173; ENSP00000405440; ENSG00000049759 [Q96PU5-9]
ENST00000456986; ENSP00000411947; ENSG00000049759 [Q96PU5-4]
ENST00000586263; ENSP00000468546; ENSG00000049759 [Q96PU5-6]
GeneIDi23327
KEGGihsa:23327
UCSCiuc002lgx.4 human [Q96PU5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF210730 mRNA Translation: AAG43524.1
AF385931 mRNA Translation: AAM46208.1
AY312514 mRNA Translation: AAP75706.1
AY112983 mRNA Translation: AAM76728.1
AY112984 mRNA Translation: AAM76729.1
AY112985 mRNA Translation: AAM76730.1
AB071179 mRNA Translation: BAB69424.1
DQ181796 mRNA Translation: ABA10330.1
AC015988 Genomic DNA No translation available.
AC090236 Genomic DNA No translation available.
AC107896 Genomic DNA No translation available.
CH471096 Genomic DNA Translation: EAW63065.1
BC000621 mRNA Translation: AAH00621.2
BC019345 mRNA Translation: AAH19345.1
BC032597 mRNA Translation: AAH32597.1
AB007899 mRNA Translation: BAA23711.1 Different initiation.
AL137469 mRNA Translation: CAB70754.1
CCDSiCCDS45872.1 [Q96PU5-1]
CCDS45873.1 [Q96PU5-5]
CCDS45874.1 [Q96PU5-7]
CCDS45875.1 [Q96PU5-4]
CCDS45876.1 [Q96PU5-9]
CCDS58632.1 [Q96PU5-2]
CCDS59323.1 [Q96PU5-6]
PIRiT46412
RefSeqiNP_001138436.1, NM_001144964.1 [Q96PU5-4]
NP_001138437.1, NM_001144965.1 [Q96PU5-4]
NP_001138438.1, NM_001144966.2 [Q96PU5-4]
NP_001138439.1, NM_001144967.2 [Q96PU5-1]
NP_001138440.1, NM_001144968.1 [Q96PU5-7]
NP_001138441.1, NM_001144969.1 [Q96PU5-6]
NP_001138442.1, NM_001144970.2 [Q96PU5-9]
NP_001138443.1, NM_001144971.1 [Q96PU5-9]
NP_001230889.1, NM_001243960.1 [Q96PU5-2]
NP_056092.2, NM_015277.5 [Q96PU5-5]
XP_016881168.1, XM_017025679.1 [Q96PU5-4]
UniGeneiHs.185677

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2LAJNMR-A496-535[»]
2LB2NMR-A386-420[»]
2LTYNMR-A385-417[»]
2MPTNMR-A496-539[»]
B945-957[»]
2NSQX-ray1.85A1-154[»]
2ONIX-ray2.20A594-967[»]
3JVZX-ray3.30C/D596-975[»]
3JW0X-ray3.10C/D596-975[»]
5HPKX-ray2.43A594-975[»]
ProteinModelPortaliQ96PU5
SMRiQ96PU5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116915, 212 interactors
DIPiDIP-41935N
IntActiQ96PU5, 28 interactors
MINTiQ96PU5
STRINGi9606.ENSP00000383199

PTM databases

iPTMnetiQ96PU5
PhosphoSitePlusiQ96PU5

Polymorphism and mutation databases

BioMutaiNEDD4L
DMDMi73921204

Proteomic databases

EPDiQ96PU5
MaxQBiQ96PU5
PaxDbiQ96PU5
PeptideAtlasiQ96PU5
PRIDEiQ96PU5
ProteomicsDBi77752
77753 [Q96PU5-2]
77754 [Q96PU5-3]
77755 [Q96PU5-4]
77756 [Q96PU5-5]
77757 [Q96PU5-6]
77758 [Q96PU5-7]
77760 [Q96PU5-9]

Protocols and materials databases

DNASUi23327
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000256830; ENSP00000256830; ENSG00000049759 [Q96PU5-3]
ENST00000356462; ENSP00000348847; ENSG00000049759 [Q96PU5-2]
ENST00000357895; ENSP00000350569; ENSG00000049759 [Q96PU5-7]
ENST00000382850; ENSP00000372301; ENSG00000049759 [Q96PU5-5]
ENST00000400345; ENSP00000383199; ENSG00000049759 [Q96PU5-1]
ENST00000431212; ENSP00000389406; ENSG00000049759 [Q96PU5-4]
ENST00000435432; ENSP00000393395; ENSG00000049759 [Q96PU5-9]
ENST00000456173; ENSP00000405440; ENSG00000049759 [Q96PU5-9]
ENST00000456986; ENSP00000411947; ENSG00000049759 [Q96PU5-4]
ENST00000586263; ENSP00000468546; ENSG00000049759 [Q96PU5-6]
GeneIDi23327
KEGGihsa:23327
UCSCiuc002lgx.4 human [Q96PU5-1]

Organism-specific databases

CTDi23327
DisGeNETi23327
EuPathDBiHostDB:ENSG00000049759.16
GeneCardsiNEDD4L
HGNCiHGNC:7728 NEDD4L
HPAiHPA024618
HPA064730
MalaCardsiNEDD4L
MIMi606384 gene
617201 phenotype
neXtProtiNX_Q96PU5
OpenTargetsiENSG00000049759
Orphaneti98892 Periventricular nodular heterotopia
PharmGKBiPA31534
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0940 Eukaryota
COG5021 LUCA
GeneTreeiENSGT00760000118966
HOVERGENiHBG004134
InParanoidiQ96PU5
KOiK13305
OMAiWERPTIL
OrthoDBiEOG091G0SS8
PhylomeDBiQ96PU5
TreeFamiTF323658

Enzyme and pathway databases

UniPathwayi
UPA00143

BioCyciMetaCyc:ENSG00000049759-MONOMER
BRENDAi2.3.2.B8 2681
6.3.2.19 2681
ReactomeiR-HSA-162588 Budding and maturation of HIV virion
R-HSA-2173788 Downregulation of TGF-beta receptor signaling
R-HSA-2173795 Downregulation of SMAD2/3:SMAD4 transcriptional activity
R-HSA-2672351 Stimuli-sensing channels
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation
SignaLinkiQ96PU5
SIGNORiQ96PU5

Miscellaneous databases

ChiTaRSiNEDD4L human
EvolutionaryTraceiQ96PU5
GeneWikiiNEDD4L
GenomeRNAii23327
PROiPR:Q96PU5
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000049759 Expressed in 213 organ(s), highest expression level in forebrain
ExpressionAtlasiQ96PU5 baseline and differential
GenevisibleiQ96PU5 HS

Family and domain databases

CDDicd00078 HECTc, 1 hit
cd00201 WW, 4 hits
Gene3Di2.60.40.150, 1 hit
InterProiView protein in InterPro
IPR000008 C2_dom
IPR035892 C2_domain_sf
IPR024928 E3_ub_ligase_SMURF1
IPR000569 HECT_dom
IPR035983 Hect_E3_ubiquitin_ligase
IPR001202 WW_dom
IPR036020 WW_dom_sf
PfamiView protein in Pfam
PF00168 C2, 1 hit
PF00632 HECT, 1 hit
PF00397 WW, 4 hits
PIRSFiPIRSF001569 E3_ub_ligase_SMURF1, 1 hit
PRINTSiPR00360 C2DOMAIN
SMARTiView protein in SMART
SM00239 C2, 1 hit
SM00119 HECTc, 1 hit
SM00456 WW, 4 hits
SUPFAMiSSF51045 SSF51045, 4 hits
SSF56204 SSF56204, 1 hit
PROSITEiView protein in PROSITE
PS50004 C2, 1 hit
PS50237 HECT, 1 hit
PS01159 WW_DOMAIN_1, 4 hits
PS50020 WW_DOMAIN_2, 4 hits
ProtoNetiSearch...

Entry informationi

Entry nameiNED4L_HUMAN
AccessioniPrimary (citable) accession number: Q96PU5
Secondary accession number(s): O43165
, Q3LSM7, Q7Z5F1, Q7Z5F2, Q7Z5N3, Q8N5A7, Q8WUU9, Q9BW58, Q9H2W4, Q9NT88
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 30, 2005
Last sequence update: August 30, 2005
Last modified: November 7, 2018
This is version 172 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  5. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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