Aliases for NEDD4L Gene
Aliases for NEDD4L Gene
- Neural Precursor Cell Expressed, Developmentally Down-Regulated 4-Like, E3 Ubiquitin Protein Ligase 2 3 5
- HECT-Type E3 Ubiquitin Transferase NED4L 3 4
- NEDD4.2 3 4
- Neural Precursor Cell Expressed, Developmentally Down-Regulated 4-Like 2
- E3 Ubiquitin-Protein Ligase NEDD4-Like 3
- Ubiquitin-Protein Ligase Rsp5 3
- EC 2.3.2.26 4
- HNEDD4-2 3
External Ids for NEDD4L Gene
- HGNC: 7728
- Entrez Gene: 23327
- Ensembl: ENSG00000049759
- OMIM: 606384
- UniProtKB: Q96PU5
Previous GeneCards Identifiers for NEDD4L Gene
- GC18P055746
- GC18P055496
- GC18P053860
- GC18P053862
- GC18P052421
- GC18P055711
Summaries for NEDD4L Gene
-
This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation. The encoded protein mediates the ubiquitination of multiple target substrates and plays a critical role in epithelial sodium transport by regulating the cell surface expression of the epithelial sodium channel, ENaC. Single nucleotide polymorphisms in this gene may be associated with essential hypertension. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
GeneCards Summary for NEDD4L Gene
NEDD4L (Neural Precursor Cell Expressed, Developmentally Down-Regulated 4-Like, E3 Ubiquitin Protein Ligase) is a Protein Coding gene. Diseases associated with NEDD4L include Periventricular Nodular Heterotopia 7 and Periventricular Nodular Heterotopia. Among its related pathways are Gene Expression and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include ligase activity and ion channel binding. An important paralog of this gene is NEDD4.
UniProtKB/Swiss-Prot for NEDD4L Gene
-
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).
Additional gene information for NEDD4L Gene
- Monarch Initiative
- Search for NEDD4L at DataMed
- Search for NEDD4L at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NEDD4L Gene
Genomics for NEDD4L Gene
GeneHancer (GH) Regulatory Elements for NEDD4L Gene
Promoters and enhancers for NEDD4L Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around NEDD4L on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the NEDD4L gene promoter:
-
- GATA-1
- Hand1
- E47
- HEN1
- RSRFC4
- c-Myb
- Evi-1
- POU2F1
Regulatory Element Products
Genomic Locations for NEDD4L Gene
Genomic Locations for NEDD4L Gene
- chr18:58,044,233-58,401,541
- (GRCh38/hg38)
- Size:
- 357,309 bases
- Orientation:
- Plus strand
- chr18:55,711,599-56,068,772
- (GRCh37/hg19)
- Size:
- 357,174 bases
- Orientation:
- Plus strand
Genomic View for NEDD4L Gene
Genes around NEDD4L on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 18q21.31 by Entrez Gene
- 18q21.31 by HGNC
- 18q21.31 by Ensembl
NEDD4L Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for NEDD4L Gene
Proteins for NEDD4L Gene
-
Protein details for NEDD4L Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q96PU5-NED4L_HUMAN
- Recommended name:
- E3 ubiquitin-protein ligase NEDD4-like
- Protein Accession:
- Q96PU5
- O43165
- Q3LSM7
- Q7Z5F1
- Q7Z5F2
- Q7Z5N3
- Q8N5A7
- Q8WUU9
- Q9BW58
- Q9H2W4
- Q9NT88
Protein attributes for NEDD4L Gene
- Size:
- 975 amino acids
- Molecular mass:
- 111932 Da
- Quaternary structure:
-
- 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).
- (Microbial infection) Interacts with Epstein-Barr virus LMP2A.
- SequenceCaution:
-
- Sequence=BAA23711.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAA23711.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for NEDD4L Gene
Protein Expression for NEDD4L Gene
Post-translational modifications for NEDD4L Gene
- Phosphorylated by SGK1 or PKA; which impairs interaction with SCNN. Interaction with YWHAH inhibits dephosphorylation.
- Auto-ubiquitinated (PubMed:19343052). Deubiquitinated by USP36, no effect on NEDD4L protein levels. Both proteins interact and regulate each others ubiquitination levels (PubMed:27445338).
- Ubiquitination at Lys531, Lys521, Lys471, and isoforms=2, 3, 4, 5, 6, 7, 9129
- Modification sites at PhosphoSitePlus
Other Protein References for NEDD4L Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- XP_006722488.2
- XP_024306901.1
- NP_001138443.1
- XP_024306902.1
- NP_001138436.1
- XP_006722487.2
- NP_001138438.1
- XP_016881166.1
- XP_006722493.1
- XP_011524189.1
- XP_006722489.1
- XP_016881169.1
- NP_056092.2
- XP_006722491.1
- XP_024306900.1
- NP_001138440.1
- XP_024306905.1
- NP_001138437.1
- XP_016881170.1
- XP_024306897.1
- XP_016881165.1
- NP_001138439.1
- XP_005266717.2
- XP_005266715.2
- XP_024306899.1
- XP_016881168.1
- NP_001138442.1
- XP_024306903.1
- NP_001138441.1
- XP_024306904.1
- NP_001230889.1
- XP_016881167.1
- XP_024306898.1
- XP_006722484.2
- XP_005266720.2
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for NEDD4L
- Novus Biologicals Antibodies for NEDD4L
-
Abcam antibodies for NEDD4L
- Invitrogen Antibodies for NEDD4L (AFLGC-NEDD4L)
- antibodies-online: Search results for 65 available NEDD4L Antibodies ranked by validation data
- Compare Top NEDD4L Antibodies
-
Recommended
- 28 WB Antibodies (anti-human)
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- 2 IHC (p) Antibodies (anti-human)
- 1 IF Antibody (anti-human)
- 12 IF (p) Antibodies (anti-rat)
- 12 WB Antibodies (anti-rat)
- 1 IHC (p) Antibody (anti-rat)
- 32 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 1 IHC (p) Antibody (anti-mouse)
- GeneTex NEDD4L Antibody for NEDD4L
-
Santa Cruz Biotechnology (SCBT) Antibodies for NEDD4L
Protein Products
-
OriGene Purified Proteins for NEDD4L
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-
Abcam proteins for NEDD4L
Assay Products
No data available for DME Specific Peptides for NEDD4L Gene
Domains & Families for NEDD4L Gene
Gene Families for NEDD4L Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for NEDD4L Gene
Suggested Antigen Peptide Sequences for NEDD4L Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for NEDD4L Gene
Function for NEDD4L Gene
Molecular function for NEDD4L Gene
- UniProtKB/Swiss-Prot 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. 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).
- UniProtKB/Swiss-Prot CatalyticActivity:
- S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Activated by NDFIP1- and NDFIP2-binding.
- UniProtKB/Swiss-Prot Induction:
- By androgens in prostate, and by albumin in kidney.
- GENATLAS Biochemistry:
- neural precursor cell expressed gene 4-like,developmentally down-regulated 4-like
Enzyme Numbers (IUBMB) for NEDD4L Gene
Phenotypes From GWAS Catalog for NEDD4L Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004842 | ubiquitin-protein transferase activity | TAS | -- |
| GO:0005515 | protein binding | IPI | 11244092 |
| GO:0015459 | potassium channel regulator activity | IDA | 17289006 |
| GO:0016740 | transferase activity | IEA | -- |
| GO:0017080 | sodium channel regulator activity | IDA | 11244092 |
Phenotypes for NEDD4L Gene
- MGI mutant phenotypes for NEDD4L:
-
inferred from 6 alleles
- cardiovascular system phenotype
- respiratory system phenotype
- vision/eye phenotype
- digestive/alimentary phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- behavior/neurological phenotype
- no phenotypic analysis
- mortality/aging
- muscle phenotype
- hearing/vestibular/ear phenotype
- renal/urinary system phenotype
- hematopoietic system phenotype
- immune system phenotype
- GenomeRNAi human phenotypes for NEDD4L:
Animal Models for NEDD4L Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for NEDD4L
-
CRISPR Products
-
OriGene CRISPR knockouts for NEDD4L
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-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for NEDD4L
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miRNA for NEDD4L Gene
- miRTarBase miRNAs that target NEDD4L
-
- hsa-mir-24-3p (MIRT030590)
- hsa-mir-1296-5p (MIRT036071)
- hsa-mir-423-5p (MIRT038151)
- hsa-mir-7855-5p (MIRT461494)
- hsa-mir-6807-5p (MIRT461495)
- hsa-mir-7843-3p (MIRT461496)
- hsa-mir-4710 (MIRT461497)
- hsa-mir-4792 (MIRT461498)
- hsa-mir-650 (MIRT461499)
- hsa-mir-3612 (MIRT461500)
- hsa-mir-2467-3p (MIRT461501)
- hsa-mir-6086 (MIRT461502)
- hsa-mir-377-5p (MIRT461503)
- hsa-mir-1827 (MIRT461504)
- hsa-mir-4487 (MIRT461505)
- hsa-mir-558 (MIRT461506)
- hsa-mir-3160-3p (MIRT461507)
- hsa-mir-5186 (MIRT461508)
- hsa-mir-4786-3p (MIRT461509)
- hsa-mir-665 (MIRT461510)
- hsa-mir-4459 (MIRT461511)
- hsa-mir-4257 (MIRT461512)
- hsa-mir-6511a-5p (MIRT461513)
- hsa-mir-1910-3p (MIRT461514)
- hsa-mir-4695-5p (MIRT461515)
- hsa-mir-3924 (MIRT545527)
- hsa-mir-190a-3p (MIRT545528)
- hsa-mir-6504-3p (MIRT545529)
- hsa-mir-656-3p (MIRT545530)
- hsa-mir-5011-5p (MIRT545531)
- hsa-mir-93-3p (MIRT734507)
- hsa-mir-30a-5p (MIRT734770)
- hsa-mir-376c-3p (MIRT785369)
miRNA Products
Inhibitory RNA Products
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Clone Products
-
OriGene ORF clones in human for NEDD4L
- RC217897
- RC217897L1
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- RC217897L3
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- RC226599L4
- RC226610
- RC226610L1
- RC226610L2
- RC226610L3
- RC226610L4
- RC226632
- RC226632L1
- RC226632L2
- RC226632L3
- RC226632L4
- RC226645
- RC226645L1
- RC226645L2
- RC226645L3
- RC226645L4
- RC226655
- RC226655L1
- RC226655L2
- RC226655L3
- RC226655L4
- RC226659
- RC226659L1
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- RC227866
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- RC233169
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- RC217897L1V
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- RC227866L1V
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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GenScript: Next-day shipping of latest version cDNA ORF clones for NEDD4L in any vector
- NM_015277.5
- XM_005266660.4
- XM_005266658.4
- XM_005266663.4
- XM_006722426.3
- XM_006722421.3
- XM_006722428.3
- XM_006722425.3
- XM_006722430.3
- XM_006722424.3
- XM_011525887.2
- NM_001144966.2
- NM_001144970.2
- NM_001144967.2
- XM_017025680.1
- XM_017025681.1
- XM_017025676.1
- XM_017025677.1
- XM_017025678.1
- NM_001144971.1
- NM_001243960.1
- NM_001144968.1
- NM_001144969.1
- NM_001144964.1
- XM_017025679.1
- Sino Biological Human cDNA Clone for NEDD4L
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- Applied Biological Materials Clones for NEDD4L
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Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
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Horizon Cell Lines for NEDD4L
No data available for Transcription Factor Targets and HOMER Transcription for NEDD4L Gene
Localization for NEDD4L Gene
Subcellular locations from UniProtKB/Swiss-Prot for NEDD4L Gene
- Cytoplasm. Golgi apparatus. Endosome, multivesicular body. Note=May be recruited to exosomes by NDFIP1.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| nucleus | 5 |
| cytosol | 5 |
| golgi apparatus | 4 |
| endosome | 4 |
| plasma membrane | 2 |
| lysosome | 2 |
| endoplasmic reticulum | 1 |
- Focal adhesion sites (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005622 | intracellular | IC | 11244092 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005737 | cytoplasm | IBA | -- |
| GO:0005768 | endosome | IEA | -- |
| GO:0005771 | multivesicular body | IEA | -- |
Pathways & Interactions for NEDD4L Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | HIV Life Cycle |
.91
.64
|
.45
|
| 2 | Class I MHC mediated antigen processing and presentation | ||
| 3 | Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer | ||
| 4 | TGF-beta receptor signaling activates SMADs | ||
| 5 | Gene Expression |
.48
|
|
Pathways by source for NEDD4L Gene
3 BioSystems pathways for NEDD4L Gene
21 Reactome pathways for NEDD4L Gene
1 PharmGKB pathway for NEDD4L Gene
4 KEGG pathways for NEDD4L Gene
1 Cell Signaling Technology pathway for NEDD4L Gene
UniProtKB/Swiss-Prot Q96PU5-NED4L_HUMAN
- Pathway: Protein modification; protein ubiquitination.
Interacting Proteins for NEDD4L Gene
Selected Interacting proteins:
Q96PU5-NED4L_HUMAN
ENSP00000383199
for NEDD4L Gene via
UniProtKB
STRING
MINT
IID
GPS-Prot Interaction Network for NEDD4L
SIGNOR curated interactions for NEDD4L Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | TAS | -- |
| GO:0000209 | protein polyubiquitination | TAS | -- |
| GO:0003254 | regulation of membrane depolarization | IDA | 15217910 |
| GO:0006511 | ubiquitin-dependent protein catabolic process | IDA | 21463633 |
| GO:0006513 | protein monoubiquitination | IEA | -- |
Drugs & Compounds for NEDD4L Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Citalopram | Approved | Pharma | 526 | |||
| Hydrochlorothiazide | Approved, Vet_approved | Pharma | Inhibition, Inhibitor | 425 | ||
| Phosphoric acid | Approved | Pharma | 0 | |||
| Adenosine monophosphate | Approved, Investigational | Nutra | 0 | |||
| ATP | Investigational | Nutra | Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| pyrophosphate |
|
14000-31-8 |
|
Drug Products
Transcripts for NEDD4L Gene
mRNA/cDNA for NEDD4L Gene
- (35) REFSEQ mRNAs :
- (29) Additional mRNA sequences :
- (284) Selected AceView cDNA sequences:
- (38) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000592846 484 bps (uc060pny.1)
- ENST00000585363 241 bps (uc060pnz.1)
- ENST00000588516 1304 bps (uc060poa.1)
- ENST00000585594 220 bps (uc060pob.1)
- ENST00000587547 889 bps (uc060poc.1)
Unigene Clusters for NEDD4L Gene
- Neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for NEDD4L
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- genomics-online: gRNA clones - Search results for available NEDD4L gene related products
- Applied Biological Materials CRISPR for NEDD4L
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for NEDD4L
- GenScript: Design CRISPR guide RNA sequences for NEDD4L
miRNA Products
Inhibitory RNA Products
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NEDD4L
- genomics-online: shRNA clones - Search results for available NEDD4L gene related products
Clone Products
-
OriGene ORF clones in human for NEDD4L
- RC217897
- RC217897L1
- RC217897L2
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- RC226632L2
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- RC226645
- RC226645L1
- RC226645L2
- RC226645L3
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- RC226655
- RC226655L1
- RC226655L2
- RC226655L3
- RC226655L4
- RC226659
- RC226659L1
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- RC233169
- RG217897
- RG226595
- RG226599
- RG226610
- RG226632
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- Applied Biological Materials Clones for NEDD4L
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19a | · | 19b | ^ | 20 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP13: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP14: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||
| SP15: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP16: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP17: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP18: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP19: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP20: | - | - | - |
| ExUns: | 21a | · | 21b | ^ | 22a | · | 22b | ^ | 23 | ^ | 24 | ^ | 25a | · | 25b | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31 | ^ | 32 | ^ | 33 | ^ | 34 | ^ | 35 | ^ | 36 | ^ | 37a | · | 37b | ^ | 38a | · | 38b | ^ | 39 | ^ | 40a | · | 40b | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP12: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP13: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP14: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||
| SP15: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP16: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP17: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP18: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP19: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP20: |
| ExUns: | 40c | · | 40d | · | 40e | · | 40f |
|---|---|---|---|---|---|---|---|
| SP1: | |||||||
| SP2: | |||||||
| SP3: | |||||||
| SP4: | |||||||
| SP5: | |||||||
| SP6: | |||||||
| SP7: | |||||||
| SP8: | |||||||
| SP9: | |||||||
| SP10: | |||||||
| SP11: | |||||||
| SP12: | |||||||
| SP13: | |||||||
| SP14: | |||||||
| SP15: | |||||||
| SP16: | |||||||
| SP17: | |||||||
| SP18: | |||||||
| SP19: | |||||||
| SP20: |
Expression for NEDD4L Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Gut Tube (Gastrointestinal Tract)
-
Eye (Sensory Organs)
- nGnG Amacrine Cells Inner Nuclear Layer
-
Neurons
- nGnG Amacrine Cells Inner Nuclear Layer
-
Inner Cell Mass (Early Embryonic Tissues)
- Inner Cell Mass Cells Inner Cell Mass
- Kidney (Urinary System)
- Mesenchymal Stem Cells (Uncategorized)
- Umbilical Cord (Extraembryonic Tissues)
-
Colon (Gastrointestinal Tract)
-
Prostate (Endocrine System)
This gene is overexpressed in Fetal Brain (31.6) and Breast (12.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NEDD4L Gene
NURSA nuclear receptor signaling pathways regulating expression of NEDD4L Gene:
NEDD4LSOURCE GeneReport for Unigene cluster for NEDD4L Gene:
Hs.185677mRNA Expression by UniProt/SwissProt for NEDD4L Gene:
Q96PU5-NED4L_HUMAN
Tissue specificity:
Ubiquitously expressed, with highest levels in prostate, pancreas and kidney (PubMed:14615060, PubMed:15496141, PubMed:19664597). Expressed in melanocytes (PubMed:23999003).
Evidence on tissue expression from TISSUES for NEDD4L Gene
- Nervous system(4.9)
- Kidney(4.6)
- Skin(4.5)
- Liver(4.4)
- Lung(2.8)
Primer Products
-
OriGene qPCR primer pairs for NEDD4L
-
OriGene qPCR primer pairs and template standards for NEDD4L
- genomics-online: primer clones - Search results for available NEDD4L gene related products
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for NEDD4L Gene
Orthologs for NEDD4L Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | NEDD4L 34 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | NEDD4L 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | NEDD4L 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | NEDD4L 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | NEDD4L 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Nedd4l 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Nedd4l 33 |
|
||
| chicken (Gallus gallus) |
Aves | NEDD4L 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | NEDD4L 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | nedd4l 33 |
|
||
| Str.10684 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.206 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | nedd4l 34 33 |
|
OneToOne | |
| Dr.26117 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | Nedd4 34 35 33 |
|
OneToMany | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000787 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | Y92H12A.2 34 35 33 |
|
OneToMany | |
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_ADL055C 33 |
|
||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E13575g 33 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | RSP5 34 33 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany | |
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | pub1 33 |
|
||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU03947 33 |
|
- Species where no ortholog for NEDD4L was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for NEDD4L Gene
- ENSEMBL:
- Gene Tree for NEDD4L (if available)
- TreeFam:
- Gene Tree for NEDD4L (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for NEDD4L: view image
Paralogs for NEDD4L Gene
(15) SIMAP similar genes for NEDD4L Gene using alignment to 9 proteins:
- NED4L_HUMAN
- F5H602_HUMAN
- K7EKL1_HUMAN
- K7EN41_HUMAN
- K7EN51_HUMAN
- K7ENS6_HUMAN
- K7EQC5_HUMAN
- K7ERN1_HUMAN
- Q5XLQ3_HUMAN
Variants for NEDD4L Gene
| SNP ID | Clin | Chr 18 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs4149601 | drug-response, hydrochlorothiazide response - Efficacy, diuretics response - Efficacy | 58,149,559(+) | G/A | 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, synonymous_variant | |
| rs879255596 | pathogenic, Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay, Periventricular nodular heterotopia 7, Periventricular nodular heterotopia 7 (PVNH7) [MIM:617201] | 58,390,680(+) | G/A | coding_sequence_variant, missense_variant | |
| rs879255597 | pathogenic, Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay, Periventricular nodular heterotopia 7, not provided, Periventricular nodular heterotopia 7 (PVNH7) [MIM:617201] | 58,390,667(+) | G/A | coding_sequence_variant, missense_variant | |
| rs879255598 | pathogenic, Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay, Periventricular nodular heterotopia 7, Periventricular nodular heterotopia 7 (PVNH7) [MIM:617201] | 58,367,764(+) | G/T | coding_sequence_variant, missense_variant | |
| rs879255599 | pathogenic, Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay, Periventricular nodular heterotopia 7, Periventricular nodular heterotopia 7 (PVNH7) [MIM:617201] | 58,366,201(+) | A/G | coding_sequence_variant, missense_variant |
Residual Variation Intolerance Score:
14.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.22;
24.56% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for NEDD4L Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NEDD4L Gene
Disorders for NEDD4L Gene
(8) MalaCards diseases for NEDD4L Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| periventricular nodular heterotopia 7 |
|
|
| periventricular nodular heterotopia |
|
|
| liddle syndrome |
|
|
| photosensitive epilepsy |
|
|
| arts syndrome |
|
|
Search NEDD4L in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
NED4L_HUMAN- 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 mutations affecting the gene represented in this entry.
Additional Disease Information for NEDD4L
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for NEDD4L Gene
Publications for NEDD4L Gene
- HECT E3 ubiquitin ligase Nedd4-1 ubiquitinates ACK and regulates epidermal growth factor (EGF)-induced degradation of EGF receptor and ACK. (PMID: 20086093) Lin Q … Yang W (Molecular and cellular biology 2010) 3 4 22 58
- Down-regulation of active ACK1 is mediated by association with the E3 ubiquitin ligase Nedd4-2. (PMID: 19144635) Chan W … Manser E (The Journal of biological chemistry 2009) 3 4 22 58
- Identification of NPC2 protein as interaction molecule with C2 domain of human Nedd4L. (PMID: 19664597) Araki N … Umemura S (Biochemical and biophysical research communications 2009) 3 4 22 58
- Nedd4-2 isoforms ubiquitinate individual epithelial sodium channel subunits and reduce surface expression and function of the epithelial sodium channel. (PMID: 18322022) Raikwar NS … Thomas CP (American journal of physiology. Renal physiology 2008) 2 3 22 58
- Two polymorphisms in NEDD4L gene and essential hypertension in Chinese Hans - a population-based case-control study. (PMID: 18293164) Wen H … Wang X (Clinical and experimental hypertension (New York, N.Y. : 1993) 2008) 3 22 44 58
Products for NEDD4L Gene
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- NM_015277.5
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- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for NEDD4L
- Novus Biologicals proteins and lysates for NEDD4L
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
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- Abcam antibodies for NEDD4L
- Abcam proteins for NEDD4L
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- Browse Primary Antibodies
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- Search Knockout (KO) Validated Antibodies
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- Invitrogen Antibodies for NEDD4L (AFLGC-NEDD4L)
- Cyagen custom Knockout/knockin (KOKI) mouse models for NEDD4L
- Addgene plasmids for NEDD4L
- antibodies-online: Search results for 65 available NEDD4L Antibodies ranked by validation data
- Compare Top NEDD4L Antibodies
- Recommended
- 28 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 2 IHC (p) Antibodies (anti-human)
- 1 IF Antibody (anti-human)
- 12 IF (p) Antibodies (anti-rat)
- 12 WB Antibodies (anti-rat)
- 1 IHC (p) Antibody (anti-rat)
- 32 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 1 IHC (p) Antibody (anti-mouse)
- antibodies-online: Search results for available NEDD4L related products ranked by validation data
- antibodies-online: Search results for 6 available NEDD4L Proteins ranked by validation data
- Compare Top NEDD4L Proteins
- GeneTex NEDD4L Antibody for NEDD4L
- Search GeneTex for Proteins for NEDD4L
- Santa Cruz Biotechnology (SCBT) Antibodies for NEDD4L
- Search Santa Cruz Biotechnology (SCBT) for NEDD4L siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for NEDD4L
- Horizon Cell Lines for NEDD4L
- genomics-online: cdna clones - Search results for available NEDD4L gene related products
- orf clones - Search results for available NEDD4L gene related products
- genomics-online: gRNA clones - Search results for available NEDD4L gene related products
- genomics-online: primer clones - Search results for available NEDD4L gene related products
- genomics-online: shRNA clones - Search results for available NEDD4L gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NEDD4L
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NEDD4L
- GeneCopoeia miRNA 3'UTR Target clone products for NEDD4L
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NEDD4L
Sources for NEDD4L Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4)