NEDD4L Gene (Protein Coding)

NEDD4 Like E3 Ubiquitin Protein Ligase

GC18P058044
GIFtS:
47
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 sodiu... See more...

Aliases for NEDD4L Gene

Aliases for NEDD4L Gene

  • NEDD4 Like E3 Ubiquitin Protein Ligase 2 3 5
  • Neural Precursor Cell Expressed, Developmentally Down-Regulated 4-Like, E3 Ubiquitin Protein Ligase 2 3
  • HECT-Type E3 Ubiquitin Transferase NED4L 3 4
  • E3 Ubiquitin-Protein Ligase NEDD4-Like 3 4
  • KIAA0439 2 4
  • NEDD4-2 2 3
  • NEDD4.2 3 4
  • RSP5 2 3
  • Neural Precursor Cell Expressed, Developmentally Down-Regulated 4-Like 2
  • Ubiquitin-Protein Ligase Rsp5 3
  • EC 2.3.2.26 4
  • HNEDD4-2 3
  • EC 6.3.2 50
  • Nedd4-2 4
  • NEDD4L 5
  • PVNH7 3
  • NEDL3 4

External Ids for NEDD4L Gene

Previous GeneCards Identifiers for NEDD4L Gene

  • GC18P055746
  • GC18P055496
  • GC18P053860
  • GC18P053862
  • GC18P052421
  • GC18P055711

Summaries for NEDD4L Gene

Entrez Gene Summary 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 (NEDD4 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 Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer 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 Summary 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).

Gene Wiki entry for NEDD4L Gene

Additional gene information for NEDD4L Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NEDD4L Gene

Genomics for NEDD4L Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NEDD4L

Top Transcription factor binding sites by QIAGEN in the NEDD4L gene promoter:
  • c-Myb
  • E47
  • Evi-1
  • GATA-1
  • Hand1
  • HEN1
  • POU2F1
  • RSRFC4

Genomic Locations for NEDD4L Gene

Latest Assembly
chr18:58,044,226-58,401,540
(GRCh38/hg38)
Size:
357,315 bases
Orientation:
Plus strand

Previous Assembly
chr18:55,711,458-56,068,772
(GRCh37/hg19 by Entrez Gene)
Size:
357,315 bases
Orientation:
Plus strand

chr18:55,711,599-56,068,772
(GRCh37/hg19 by Ensembl)
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:
NEDD4L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NEDD4L Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for NEDD4L Gene

Proteins for NEDD4L Gene

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  • Protein details for NEDD4L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96PU5-NED4L_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase NEDD4-like
    Protein Accession:
    Q96PU5
    Secondary Accessions:
    • 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). Interacts with PRRG4 (via cytoplasmic domain) (PubMed:23873930).
    • (Microbial infection) Interacts with Epstein-Barr virus LMP2A.
    SequenceCaution:
    • Sequence=BAA23711.1; Type=Erroneous initiation; Note=Extended N-terminus.; 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

    Alternative splice isoforms for NEDD4L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NEDD4L Gene

Protein Expression for NEDD4L Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for NEDD4L Gene

Q96PU5:
  • FFIRPFYKMML
  • PLPPGWE
  • TQWEDPR
  • DHNTKTTTW
  • NPYYGLF
  • AREWFFLLS
  • HTCFNRLDLPPY
  • LAKKDIFGASDPYV
  • RLLQFVTG
  • RTTTWTRP
  • VFDENRLTRDDFLG

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 other's ubiquitination levels (PubMed:27445338).
  • Ubiquitination at Lys129, Lys471, Lys521, and Lys531
  • Modification sites at PhosphoSitePlus

Other Protein References for NEDD4L Gene

ENSEMBL proteins:
REFSEQ proteins:

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

InterPro:
Blocks:
  • C2 domain
  • HECT domain (Ubiquitin-protein ligase)
  • WW domain signature

Suggested Antigen Peptide Sequences for NEDD4L Gene

GenScript: Design optimal peptide antigens:
  • Nedd4-2 (NED4L_HUMAN)
  • NEDD4-2 minus WW2,3 variant (Q5XLQ3_HUMAN)
  • NEDD4L variant NEDD4-2C3c (Q7Z4N9_HUMAN)
  • NEDD4L variant NEDD4-2C2a (Q7Z4P0_HUMAN)
genes like me logo Genes that share domains with NEDD4L: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for NEDD4L Gene

Function for NEDD4L Gene

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  6. Cell Lines for research

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:
Reaction=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.; EC=2.3.2.26;.
UniProtKB/Swiss-Prot Induction:
By androgens in prostate, and by albumin in kidney.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by NDFIP1- and NDFIP2-binding.
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

Gene Ontology (GO) - Molecular Function for NEDD4L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IEA,TAS --
GO:0005515 protein binding IEA,IPI 11244092
GO:0015459 potassium channel regulator activity IDA 17289006
GO:0016740 transferase activity IEA --
GO:0017080 sodium channel regulator activity IDA 11244092
genes like me logo Genes that share ontologies with NEDD4L: view
genes like me logo Genes that share phenotypes with NEDD4L: view

Human Phenotype Ontology for NEDD4L Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NEDD4L Gene

MGI Knock Outs for NEDD4L:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NEDD4L

Clone products for research

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NEDD4L gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 4
endosome 4
golgi apparatus 4
plasma membrane 3
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
lysosome 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for NEDD4L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IBA 21873635
GO:0005768 endosome IEA --
GO:0005771 multivesicular body IEA --
GO:0005794 Golgi apparatus IEA --
genes like me logo Genes that share ontologies with NEDD4L: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NEDD4L Gene

Pathways & Interactions for NEDD4L Gene

genes like me logo Genes that share pathways with NEDD4L: view

UniProtKB/Swiss-Prot Q96PU5-NED4L_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

SIGNOR curated interactions for NEDD4L Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process 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 IEA,IDA 21463633
GO:0006513 protein monoubiquitination IEA --
genes like me logo Genes that share ontologies with NEDD4L: view

Drugs & Compounds for NEDD4L Gene

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(7) Drugs for NEDD4L Gene - From: PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Citalopram Approved Pharma 613
Hydrochlorothiazide Approved, Vet_approved Pharma 459
Adenosine monophosphate Approved, Investigational Nutra 0
Phosphate Experimental Pharma 0
ATP Investigational Nutra 0

(3) Additional Compounds for NEDD4L Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(HO)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • Pyrophosphoric acid
 14000-31-8
genes like me logo Genes that share compounds with NEDD4L: view

Transcripts for NEDD4L Gene

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mRNA/cDNA for NEDD4L Gene

10 REFSEQ mRNAs :
38 NCBI additional mRNA sequence :
62 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NEDD4L

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for NEDD4L Gene

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:

Relevant External Links for NEDD4L Gene

GeneLoc Exon Structure for
NEDD4L

Expression for NEDD4L Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NEDD4L Gene

mRNA expression in normal human tissues for NEDD4L Gene
mRNA expression by BioGPS for NEDD4L GenemRNA expression by GTEx for NEDD4L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NEDD4L Gene

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



Protein tissue co-expression partners for NEDD4L Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NEDD4L

SOURCE GeneReport for Unigene cluster for NEDD4L Gene:

Hs.185677

mRNA 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)
  • Skin(4.7)
  • Kidney(4.6)
  • Liver(4.6)
  • Lung(3)
  • Muscle(2.5)
  • Heart(2.4)
  • Pancreas(2.3)
  • Intestine(2.2)
  • Eye(2.2)
  • Blood(2.2)
  • Thyroid gland(2.2)
  • Stomach(2)
genes like me logo Genes that share expression patterns with NEDD4L: view

Primer products for research

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.

Orthologs for NEDD4L Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia NEDD4L 29 30
  • 99.66 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia NEDD4L 30
  • 96 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia NEDD4L 30
  • 93 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia NEDD4L 29 30
  • 92.12 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia NEDD4L 29 30
  • 90.37 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Nedd4l 29 16 30
  • 89.71 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Nedd4l 29
  • 89.39 (n)
Chicken
(Gallus gallus)
 Aves NEDD4L 29 30
  • 82.15 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia NEDD4L 30
  • 93 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia nedd4l 29
  • 78.46 (n)
Str.10684 29
African clawed frog
(Xenopus laevis)
 Amphibia Xl.206 29
Zebrafish
(Danio rerio)
 Actinopterygii nedd4l 29 30
  • 73.46 (n)
 OneToOne
Dr.26117 29
Fruit Fly
(Drosophila melanogaster)
 Insecta Nedd4 29 30 31
  • 64.64 (n)
 OneToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP000787 29
  • 54.09 (n)
Worm
(Caenorhabditis elegans)
 Secernentea Y92H12A.2 29 30 31
  • 57.05 (n)
 OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_ADL055C 29
  • 57.56 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0E13575g 29
  • 55.91 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes RSP5 29 30
  • 55.5 (n)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 62 (a)
 OneToMany
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes pub1 29
  • 54 (n)
Bread mold
(Neurospora crassa)
 Ascomycetes NCU03947 29
  • 53.42 (n)
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 Vase (Ciona intestinalis)
  • 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
Alliance of Genome Resources:
Additional Orthologs for NEDD4L

Paralogs for NEDD4L Gene

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
genes like me logo Genes that share paralogs with NEDD4L: view

Variants for NEDD4L Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NEDD4L Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
1001160 Uncertain Significance: not provided 58,385,583(+) G/A
NM_001144967.3(NEDD4L):c.2484G>A (p.Leu828=) 		SYNONYMOUS
1001498 Uncertain Significance: not provided 58,366,042(+) A/C
NM_001144967.3(NEDD4L):c.1877A>C (p.Asn626Thr) 		MISSENSE
1002214 Uncertain Significance: not provided 58,330,922(+) GT/G
NM_001144967.3(NEDD4L):c.990+9del 		INTRON
1002407 Uncertain Significance: not provided 58,330,826(+) G/A
NM_001144967.3(NEDD4L):c.902G>A (p.Arg301Gln) 		MISSENSE
1002931 Uncertain Significance: not provided 58,370,455(+) C/G
NM_001144967.3(NEDD4L):c.2244C>G (p.Asp748Glu) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NEDD4L Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for NEDD4L Gene

Variant ID Type Subtype PubMed ID
dgv1616n106 CNV deletion 24896259
dgv26e198 CNV loss 23635498
dgv3360n100 CNV gain 25217958
dgv3361n100 CNV loss 25217958
dgv3362n100 CNV gain 25217958
dgv3363n100 CNV loss 25217958
dgv3364n100 CNV gain 25217958
dgv5957n54 CNV loss 21841781
dgv990e212 CNV loss 25503493
dgv991e212 CNV loss 25503493
esv1432973 CNV deletion 17803354
esv1499259 CNV deletion 17803354
esv1752057 CNV insertion 17803354
esv2006464 CNV deletion 18987734
esv2138002 CNV deletion 18987734
esv2426857 CNV deletion 19546169
esv2572802 CNV deletion 19546169
esv2643904 CNV insertion 19546169
esv2657059 CNV deletion 23128226
esv2658465 CNV deletion 23128226
esv2673951 CNV deletion 23128226
esv2677246 CNV deletion 23128226
esv2717155 CNV deletion 23290073
esv2717156 CNV deletion 23290073
esv2717157 CNV deletion 23290073
esv2717158 CNV deletion 23290073
esv2717159 CNV deletion 23290073
esv2758727 CNV loss 17122850
esv2762755 CNV loss 21179565
esv29817 CNV loss 19812545
esv29895 CNV loss 19812545
esv3030 CNV loss 18987735
esv3329420 CNV duplication 20981092
esv3364192 CNV duplication 20981092
esv3383765 CNV duplication 20981092
esv3444961 CNV duplication 20981092
esv3449351 CNV duplication 20981092
esv3555461 CNV deletion 23714750
esv3555462 CNV deletion 23714750
esv3574075 CNV gain 25503493
esv3642640 CNV loss 21293372
esv3642641 CNV loss 21293372
esv3642642 CNV loss 21293372
esv3642643 CNV loss 21293372
esv3642644 CNV gain 21293372
esv3642646 CNV gain 21293372
esv7213 CNV loss 19470904
nsv1059990 CNV gain 25217958
nsv1062175 CNV loss 25217958
nsv1065667 CNV loss 25217958
nsv1071466 CNV deletion 25765185
nsv1118789 CNV deletion 24896259
nsv1118790 CNV deletion 24896259
nsv1131371 CNV deletion 24896259
nsv1151270 CNV deletion 26484159
nsv131445 CNV deletion 16902084
nsv2322 CNV insertion 18451855
nsv2323 CNV insertion 18451855
nsv442442 CNV loss 18776908
nsv510459 OTHER sequence alteration 20534489
nsv514875 CNV loss 21397061
nsv516529 CNV loss 19592680
nsv518049 CNV loss 19592680
nsv523158 CNV gain 19592680
nsv528313 CNV loss 19592680
nsv817794 CNV loss 17921354
nsv954087 CNV deletion 24416366

Variation tolerance for NEDD4L Gene

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

Human Gene Mutation Database (HGMD)
NEDD4L
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NEDD4L
Leiden Open Variation Database (LOVD)
NEDD4L

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NEDD4L Gene

Disorders for NEDD4L Gene

MalaCards: The human disease database

(11) MalaCards diseases for NEDD4L Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
periventricular nodular heterotopia 7
  • pvnh7
periventricular nodular heterotopia
  • periventricular heterotopia
liddle syndrome 1
  • lidls1
photosensitive epilepsy
  • photogenic epilepsy
hypertension, essential
  • eht
- elite association - COSMIC cancer census association via MalaCards

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 variants affecting the gene represented in this entry.

Additional Disease Information for NEDD4L

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with NEDD4L: view

No data available for Genatlas for NEDD4L Gene

Publications for NEDD4L Gene

  1. Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia. (PMID: 27694961) Broix L … Chelly J (Nature genetics 2016) 3 4 72
  2. 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
  3. 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
  4. 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
  5. 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

ExternalLinks

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