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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.

Enzyme 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

GO - Biological processi

  • cellular sodium ion homeostasis Source: UniProtKB
  • excretion Source: UniProtKB
  • ion transmembrane transport Source: Reactome
  • negative regulation of potassium ion transmembrane transport Source: BHF-UCL
  • negative regulation of potassium ion transmembrane transporter activity Source: BHF-UCL
  • negative regulation of protein localization to cell surface Source: BHF-UCL
  • negative regulation of sodium ion transmembrane transport Source: BHF-UCL
  • negative regulation of sodium ion transmembrane transporter activity Source: BHF-UCL
  • negative regulation of transcription by RNA polymerase II Source: Reactome
  • positive regulation of caveolin-mediated endocytosis Source: BHF-UCL
  • positive regulation of dendrite extension Source: UniProtKB
  • positive regulation of endocytosis Source: UniProtKB
  • positive regulation of protein catabolic process Source: Ensembl
  • proteasome-mediated ubiquitin-dependent protein catabolic process Source: BHF-UCL
  • protein K48-linked ubiquitination Source: BHF-UCL
  • protein monoubiquitination Source: Ensembl
  • protein polyubiquitination Source: Reactome
  • protein ubiquitination Source: UniProtKB
  • regulation of ion transmembrane transport Source: BHF-UCL
  • regulation of membrane depolarization Source: BHF-UCL
  • regulation of membrane potential Source: BHF-UCL
  • regulation of membrane repolarization Source: BHF-UCL
  • regulation of potassium ion transmembrane transporter activity Source: BHF-UCL
  • regulation of protein catabolic process Source: UniProtKB
  • regulation of protein stability Source: UniProtKB
  • response to metal ion Source: UniProtKB
  • sodium ion transport Source: UniProtKB
  • ubiquitin-dependent protein catabolic process Source: BHF-UCL
  • ventricular cardiac muscle cell action potential Source: BHF-UCL
  • viral life cycle Source: Reactome
  • water homeostasis Source: UniProtKB

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
UniPathwayiUPA00143

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
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:rs879255599Ensembl.1
Natural variantiVAR_077881694Q → H in PVNH7; increased degradation; changed function in regulation of TOR signaling. 1 PublicationCorresponds to variant dbSNP:rs879255598Ensembl.1
Natural variantiVAR_077882893E → K in PVNH7; increased degradation; changed function in regulation of TOR signaling. 1 PublicationCorresponds to variant dbSNP:rs879255597Ensembl.1
Natural variantiVAR_077883897R → Q in PVNH7; increased degradation; changed function in regulation of TOR signaling. 1 PublicationCorresponds to variant dbSNP:rs879255596Ensembl.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
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

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
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

Show more details

GO - Molecular functioni

  • ion channel binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi116915, 203 interactors
DIPiDIP-41935N
IntActiQ96PU5, 28 interactors
MINTiQ96PU5
STRINGi9606.ENSP00000383199

Structurei

Secondary structure

1975
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi9 – 11Combined sources3
Turni16 – 18Combined sources3
Beta strandi20 – 31Combined sources12
Beta strandi43 – 51Combined sources9
Turni52 – 55Combined sources4
Beta strandi56 – 62Combined sources7
Beta strandi73 – 82Combined sources10
Turni84 – 86Combined sources3
Beta strandi87 – 95Combined sources9
Beta strandi98 – 100Combined sources3
Beta strandi103 – 111Combined sources9
Beta strandi129 – 132Combined sources4
Beta strandi145 – 152Combined sources8
Beta strandi391 – 396Combined sources6
Turni397 – 399Combined sources3
Beta strandi400 – 405Combined sources6
Turni406 – 409Combined sources4
Beta strandi410 – 414Combined sources5
Helixi417 – 419Combined sources3
Beta strandi503 – 508Combined sources6
Turni509 – 511Combined sources3
Beta strandi512 – 517Combined sources6
Turni518 – 521Combined sources4
Beta strandi522 – 526Combined sources5
Helixi528 – 534Combined sources7
Helixi594 – 607Combined sources14
Beta strandi612 – 614Combined sources3
Beta strandi616 – 622Combined sources7
Helixi624 – 626Combined sources3
Helixi627 – 637Combined sources11
Helixi641 – 645Combined sources5
Beta strandi646 – 652Combined sources7
Beta strandi653 – 655Combined sources3
Helixi660 – 675Combined sources16
Helixi678 – 680Combined sources3
Beta strandi681 – 687Combined sources7
Turni688 – 690Combined sources3
Beta strandi693 – 695Combined sources3
Helixi699 – 702Combined sources4
Helixi706 – 723Combined sources18
Beta strandi728 – 731Combined sources4
Helixi733 – 739Combined sources7
Helixi746 – 749Combined sources4
Turni750 – 752Combined sources3
Helixi754 – 765Combined sources12
Helixi769 – 771Combined sources3
Beta strandi774 – 781Combined sources8
Beta strandi784 – 791Combined sources8
Helixi794 – 796Combined sources3
Turni801 – 803Combined sources3
Helixi804 – 816Combined sources13
Turni817 – 819Combined sources3
Helixi821 – 834Combined sources14
Helixi837 – 840Combined sources4
Helixi845 – 853Combined sources9
Helixi860 – 865Combined sources6
Beta strandi868 – 870Combined sources3
Helixi878 – 889Combined sources12
Helixi892 – 903Combined sources12
Helixi913 – 915Combined sources3
Beta strandi919 – 922Combined sources4
Beta strandi926 – 929Combined sources4
Beta strandi933 – 935Combined sources3
Beta strandi938 – 940Combined sources3
Helixi941 – 943Combined sources3
Beta strandi945 – 948Combined sources4
Helixi954 – 965Combined sources12

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...

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
OMAiSEQRDDM
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

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

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:rs879255599Ensembl.1
Natural variantiVAR_077881694Q → H in PVNH7; increased degradation; changed function in regulation of TOR signaling. 1 PublicationCorresponds to variant dbSNP:rs879255598Ensembl.1
Natural variantiVAR_077882893E → K in PVNH7; increased degradation; changed function in regulation of TOR signaling. 1 PublicationCorresponds to variant dbSNP:rs879255597Ensembl.1
Natural variantiVAR_077883897R → Q in PVNH7; increased degradation; changed function in regulation of TOR signaling. 1 PublicationCorresponds to variant dbSNP:rs879255596Ensembl.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

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: April 25, 2018
This is version 167 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
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