NEDD4 NEDD4 E3 ubiquitin protein ligase [Homo sapiens (human)] - Gene

Summary

Official Symbol: NEDD4provided by HGNC
Official Full Name: NEDD4 E3 ubiquitin protein ligaseprovided by HGNC
Primary source: HGNC:HGNC:7727
See related: Ensembl:ENSG00000069869 MIM:602278; AllianceGenome:HGNC:7727
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RPF1; NEDD4-1
Summary: This gene is the founding member of the NEDD4 family of HECT ubiquitin ligases that function in the ubiquitin proteasome system of protein degradation. The encoded protein contains an N-terminal calcium and phospholipid binding C2 domain followed by multiple tryptophan-rich WW domains and, a C-terminal HECT ubiquitin ligase catalytic domain. It plays critical role in the regulation of a number of membrane receptors, endocytic machinery components and the tumor suppressor PTEN. [provided by RefSeq, Jul 2016]
Expression: Ubiquitous expression in placenta (RPKM 6.4), liver (RPKM 5.9) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q21.3

Exon count:: 32

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (55826917..55993612, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (53630346..53797054, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (56119115..56285810, complement)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Deoxyribonuclease 1-like 3 inhibits colorectal malignancy through antagonizing NEDD4-triggered CDKN1A ubiquitination.
Title: Deoxyribonuclease 1-like 3 inhibits colorectal malignancy through antagonizing NEDD4-triggered CDKN1A ubiquitination.
Ubiquitin ligase NEDD4 promotes the proliferation of hepatocellular carcinoma cells through targeting PCDH17 protein for ubiquitination and degradation.
Title: Ubiquitin ligase NEDD4 promotes the proliferation of hepatocellular carcinoma cells through targeting PCDH17 protein for ubiquitination and degradation.
PHB2 promotes SHIP2 ubiquitination via the E3 ligase NEDD4 to regulate AKT signaling in gastric cancer.
Title: PHB2 promotes SHIP2 ubiquitination via the E3 ligase NEDD4 to regulate AKT signaling in gastric cancer.
Physiological Functions of the Ubiquitin Ligases Nedd4-1 and Nedd4-2.
Title: Physiological Functions of the Ubiquitin Ligases Nedd4-1 and Nedd4-2.
Primate-specific isoform of Nedd4-1 regulates substrate binding via Ser/Thr phosphorylation and 14-3-3 binding.
Title: Primate-specific isoform of Nedd4-1 regulates substrate binding via Ser/Thr phosphorylation and 14-3-3 binding.
Oncogenic Role of the NFATC2/NEDD4/FBP1 Axis in Cholangiocarcinoma.
Title: Oncogenic Role of the NFATC2/NEDD4/FBP1 Axis in Cholangiocarcinoma.
E3 ubiquitin ligase neural precursor cell-expressed developmentally downregulated gene 4 motivates FOXA1 ubiquitination and restrains proliferation of diffuse large B-cell lymphoma cells via the Wnt/beta-Catenin pathway.
Title: E3 ubiquitin ligase neural precursor cell-expressed developmentally downregulated gene 4 motivates FOXA1 ubiquitination and restrains proliferation of diffuse large B-cell lymphoma cells via the Wnt/β-Catenin pathway.
Nedd4-1 regulates human sodium-dependent vitamin C transporter-2 functional expression in neuronal and epithelial cells.
Title: Nedd4-1 regulates human sodium-dependent vitamin C transporter-2 functional expression in neuronal and epithelial cells.
NEDD4 ameliorates myocardial reperfusion injury by preventing macrophages pyroptosis.
Title: NEDD4 ameliorates myocardial reperfusion injury by preventing macrophages pyroptosis.
Unraveling the Potential Role of NEDD4-like E3 Ligases in Cancer.
Title: Unraveling the Potential Role of NEDD4-like E3 Ligases in Cancer.

Submit: New GeneRIF Correction See all GeneRIFs (163)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study identifies four susceptibility loci for keloid in the Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide scan of healthy human connectome discovers SPON1 gene variant influencing dementia severity. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase (NEDD4) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Expression of NEDD4 upregulates levels of extracellular and intracellular HIV-1 Gag/p24 and Env/gp120 proteins in 293 cells	PubMed
Envelope surface glycoprotein gp160, precursor	env	Expression of NEDD4 upregulates levels of extracellular and intracellular HIV-1 Gag/p24 and Env/gp120 proteins in 293 cells	PubMed
Nef	nef	HIV-1 Nef co-localizes with CXCR4, AIP4, NEDD4, CD63/LAMP-1-positive vesicles, and HRS/VPS27-positive ESCRT-0 structures in HeLa cells	PubMed
	nef	HIV-1 Nef co-localizes with E3 ubiquitin ligases AIP4 and NEDD4. HIV-1 Nef induced degradation of GNAI2 involves AIP4 and NEDD4 through recruitment of AIP4 and NEDD4 by Nef	PubMed
Pr55(Gag)	gag	Expression of NEDD4 upregulates levels of extracellular and intracellular HIV-1 Gag/p24 and Env/gp120 proteins in 293 cells	PubMed
	gag	Overexpression of Nedd4-1 rescues the HIV-1 PTAP- mutant budding defects and the ubiquitin ligase activity of Nedd4-1 and the LYPXnL motif of Gag/p6 are required for the Nedd4-1-mediated rescue	PubMed
	gag	Nedd4 is one possible ubiquitin ligase implicated to interact with the L domain of HIV-1 p6-Gag resulting in monoubiquitination of p6	PubMed
	gag	Nedd4-1 facilitation of HIV-1 PTAP(-) release requires basic residues in Gag/NC	PubMed
	gag	The leucine residues (211LYPL214 motif) within the C2 domain of Nedd4-1 mediate binding to Gag and play a critical role in Nedd4-1-mediated rescue of HIV-1 PTAP(-)	PubMed
	gag	Ubiquitination of HIV-1 p6-Gag may be important for proper virus release from cells	PubMed
	gag	The L domain (P(T/S)APP; amino acids 7-11) of HIV-1 p6-Gag interacts with a ubiquitin ligase complex resulting in the monoubiquitination of p6	PubMed
Vif	vif	HIV-1 Vif, through amino acids 20-128, binds to the WW domains of hNedd4 and AIP4, two HECT E3 ubiquitin ligases	PubMed
capsid	gag	Expression of NEDD4 upregulates levels of extracellular and intracellular HIV-1 Gag/p24 and Env/gp120 proteins in 293 cells. NEDD4-induced upregulation of p24 levels is mediated by the C2 domain (residues 20-151) of NEDD4	PubMed
p6	gag	Overexpression of Nedd4-1 rescues the HIV-1 PTAP- mutant budding defects and the ubiquitin ligase activity of Nedd4-1 and the LYPXnL motif of Gag/p6 are required for the Nedd4-1-mediated rescue	PubMed
	gag	Nedd4 is one possible ubiquitin ligase implicated to interact with the L domain of HIV-1 p6-Gag resulting in monoubiquitination of p6	PubMed
	gag	Ubiquitination of HIV-1 p6-Gag may be important for proper virus release from cells	PubMed
	gag	The L domain (P(T/S)APP; amino acids 7-11) of HIV-1 p6-Gag interacts with a ubiquitin ligase complex resulting in the monoubiquitination of p6	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-22810 (e-PCR)
- UniSTS:76041

D15S1324 (e-PCR)
- UniSTS:8729

STS-D42055 (e-PCR)
- UniSTS:27953

RH25321 (e-PCR)
- UniSTS:75346

SHGC-31455 (e-PCR)
- UniSTS:7633

MARC_17217-17218:1023895765:1 (e-PCR)
- UniSTS:268255

RH44970 (e-PCR)
- UniSTS:62435

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA polymerase binding	IPI Inferred from Physical Interaction more info	PubMed
enables beta-2 adrenergic receptor binding	IDA Inferred from Direct Assay more info	PubMed
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables phosphoserine residue binding	ISS Inferred from Sequence or Structural Similarity more info
enables phosphothreonine residue binding	ISS Inferred from Sequence or Structural Similarity more info
enables proline-rich region binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables proline-rich region binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IPI Inferred from Physical Interaction more info	PubMed
enables sodium channel inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info
enables sodium channel inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin binding	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin protein ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin protein ligase activity	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin protein ligase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in DNA damage response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to UV	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in formation of structure involved in a symbiotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glucocorticoid receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_positive_effect innate immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in lysosomal transport	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of sodium ion transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of sodium ion transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of sodium ion transport	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of vascular endothelial growth factor receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuromuscular junction development	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuron projection development	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuron projection development	IEP Inferred from Expression Pattern more info	PubMed
involved_in positive regulation of nucleocytoplasmic transport	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in progesterone receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in protein K63-linked ubiquitination	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein targeting to lysosome	IPI Inferred from Physical Interaction more info	PubMed
involved_in protein ubiquitination	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in receptor catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in receptor catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in receptor internalization	IBA Inferred from Biological aspect of Ancestor more info
involved_in receptor internalization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of dendrite morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of dendrite morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of macroautophagy	TAS Traceable Author Statement more info	PubMed
involved_in regulation of membrane potential	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of monoatomic ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of potassium ion transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of synapse organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to calcium ion	TAS Traceable Author Statement more info	PubMed
involved_in ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in ubiquitin-dependent protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of viral budding	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in apicolateral plasma membrane	TAS Traceable Author Statement more info	PubMed
located_in cell cortex	IDA Inferred from Direct Assay more info	PubMed
part_of chromatin	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	TAS Traceable Author Statement more info	PubMed
is_active_in dendritic spine	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular exosome	HDA more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
part_of ubiquitin ligase complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: E3 ubiquitin-protein ligase NEDD4

Names: HECT-type E3 ubiquitin transferase NEDD4; cell proliferation-inducing gene 53 protein; neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase; receptor-potentiating factor 1

NP_001271267.1

EC 2.3.2.26

NP_001271268.1

EC 2.3.2.26

NP_001271269.1

EC 2.3.2.26

NP_001316141.1

EC 2.3.2.26

NP_006145.2

EC 2.3.2.26

NP_940682.2

EC 2.3.2.26

XP_011519926.1

EC 2.3.2.26

XP_011519927.1

EC 2.3.2.26

XP_011519928.1

EC 2.3.2.26

XP_054233998.1

EC 2.3.2.26

XP_054233999.1

EC 2.3.2.26

XP_054234000.1

EC 2.3.2.26

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_051072.1 RefSeqGene

Range

5135..171825

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001284338.2 → NP_001271267.1 E3 ubiquitin-protein ligase NEDD4 isoform 3

See identical proteins and their annotated locations for NP_001271267.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains three alternate in-frame exons, compared to variant 2. The encoded isoform (3) is longer than isoform 2.

Source sequence(s)

AC009997, AC039057

Consensus CDS

CCDS61644.1

UniProtKB/Swiss-Prot

A1KY35, A6ND72, A7MD29, B4E2R7, B7ZM59, B7ZM60, B9EGN5, D6RF89, P46934

Related

ENSP00000424827.1, ENST00000508342.5

Conserved Domains (4) summary

smart00456
Location:893 → 925

WW; Domain with 2 conserved Trp (W) residues

smart00119
Location:986 → 1315

HECTc; Domain Homologous to E6-AP Carboxyl Terminus with

pfam00397
Location:769 → 798

WW; WW domain

cl14603
Location:517 → 570

C2; C2 domain
NM_001284339.1 → NP_001271268.1 E3 ubiquitin-protein ligase NEDD4 isoform 4

See identical proteins and their annotated locations for NP_001271268.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) contains three alternate in-frame exons and uses an alternate in-frame splice site, compared to variant 2. The encoded isoform (4) is longer than isoform 2.

Source sequence(s)

AC009997, AL832063, BC136605, BC144285

Consensus CDS

CCDS61643.1

UniProtKB/Swiss-Prot

P46934

Related

ENSP00000422705.1, ENST00000506154.1

Conserved Domains (5) summary

smart00456
Location:877 → 909

WW; Domain with 2 conserved Trp (W) residues

smart00119
Location:970 → 1299

HECTc; Domain Homologous to E6-AP Carboxyl Terminus with

cd00078
Location:946 → 1300

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

pfam00397
Location:753 → 782

WW; WW domain

cl14603
Location:517 → 570

C2; C2 domain
NM_001284340.1 → NP_001271269.1 E3 ubiquitin-protein ligase NEDD4 isoform 5

Status: REVIEWED

Description

Transcript Variant: This variant (5) contains two alternate in-frame exons, compared to variant 2. The encoded isoform (5) is longer than isoform 2.

Source sequence(s)

AC009997, AL832063, AL832359, BC136605, BC144285

UniProtKB/Swiss-Prot

P46934

Conserved Domains (5) summary

smart00456
Location:876 → 908

WW; Domain with 2 conserved Trp (W) residues

smart00119
Location:969 → 1298

HECTc; Domain Homologous to E6-AP Carboxyl Terminus with

cd00078
Location:945 → 1299

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

pfam00397
Location:752 → 781

WW; WW domain

cl14603
Location:513 → 553

C2; C2 domain
NM_001329212.2 → NP_001316141.1 E3 ubiquitin-protein ligase NEDD4 isoform 6

Status: REVIEWED

Description

Transcript Variant: This variant (7) differs in the 5' UTR, lacks a portion of the 5' coding region, and contains multiple exons in the 5' UTR, compared to variant 2. It represents use of an alternate promoter and initiates translation at an alternate start codon. The encoded isoform (6) is shorter and has a distinct N-terminus, compared to isoform 2.

Source sequence(s)

AC009997, AC039057, AL832063, AL833300, D42055

UniProtKB/TrEMBL

H0Y8X6

Related

ENSP00000422455.1, ENST00000508871.5
NM_006154.4 → NP_006145.2 E3 ubiquitin-protein ligase NEDD4 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) differs in the 5' UTR, lacks a portion of the 5' coding region, and contains multiple alternate 5' coding exons, compared to variant 2. It represents use of an alternate promoter and initiates translation at an alternate start codon. The encoded isoform (1) is shorter and has a distinct N-terminus, compared to isoform 2.

Source sequence(s)

AC009997, AL832063, AL833300, D42055

Consensus CDS

CCDS45265.1

UniProtKB/TrEMBL

H0Y8X6

Related

ENSP00000410613.3, ENST00000435532.8

Conserved Domains (5) summary

cd04033
Location:20 → 151

C2_NEDD4_NEDD4L; C2 domain present in the Human neural precursor cell-expressed, developmentally down-regulated 4 (NEDD4) and NEDD4-like (NEDD4L/NEDD42)

smart00456
Location:474 → 506

WW; Domain with 2 conserved Trp (W) residues

smart00119
Location:567 → 896

HECTc; Domain Homologous to E6-AP Carboxyl Terminus with

cd00078
Location:543 → 897

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

pfam00397
Location:350 → 379

WW; WW domain
NM_198400.3 → NP_940682.2 E3 ubiquitin-protein ligase NEDD4 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) encodes isoform 2.

Source sequence(s)

AC009997, AL832063, AL833300, BC035707, BC136605

Consensus CDS

CCDS10156.1

UniProtKB/Swiss-Prot

P46934

Related

ENSP00000345530.2, ENST00000338963.6

Conserved Domains (4) summary

smart00456
Location:821 → 853

WW; Domain with 2 conserved Trp (W) residues

smart00119
Location:914 → 1243

HECTc; Domain Homologous to E6-AP Carboxyl Terminus with

cd00078
Location:890 → 1244

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

pfam00397
Location:697 → 726

WW; WW domain

RNA

NR_104302.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (6) lacks two internal exons and contains an alternate internal exon, compared to variant 2. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC009997, AC039057, AL832063, AL832359, AL833293, BC136605, BC144285

Related

ENST00000503468.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

55826917..55993612 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011521625.4 → XP_011519927.1 E3 ubiquitin-protein ligase NEDD4 isoform X2

See identical proteins and their annotated locations for XP_011519927.1

UniProtKB/TrEMBL

H0Y8X6

Conserved Domains (5) summary

cd04033
Location:1 → 100

C2_NEDD4_NEDD4L; C2 domain present in the Human neural precursor cell-expressed, developmentally down-regulated 4 (NEDD4) and NEDD4-like (NEDD4L/NEDD42)

smart00456
Location:423 → 455

WW; Domain with 2 conserved Trp (W) residues

smart00119
Location:516 → 845

HECTc; Domain Homologous to E6-AP Carboxyl Terminus with

cd00078
Location:492 → 846

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

pfam00397
Location:299 → 328

WW; WW domain
XM_011521626.2 → XP_011519928.1 E3 ubiquitin-protein ligase NEDD4 isoform X2

See identical proteins and their annotated locations for XP_011519928.1

UniProtKB/TrEMBL

H0Y8X6

Conserved Domains (5) summary

cd04033
Location:1 → 100

C2_NEDD4_NEDD4L; C2 domain present in the Human neural precursor cell-expressed, developmentally down-regulated 4 (NEDD4) and NEDD4-like (NEDD4L/NEDD42)

smart00456
Location:423 → 455

WW; Domain with 2 conserved Trp (W) residues

smart00119
Location:516 → 845

HECTc; Domain Homologous to E6-AP Carboxyl Terminus with

cd00078
Location:492 → 846

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

pfam00397
Location:299 → 328

WW; WW domain
XM_011521624.4 → XP_011519926.1 E3 ubiquitin-protein ligase NEDD4 isoform X1

UniProtKB/TrEMBL

H0Y8X6

Conserved Domains (5) summary

cd04033
Location:15 → 126

C2_NEDD4_NEDD4L; C2 domain present in the Human neural precursor cell-expressed, developmentally down-regulated 4 (NEDD4) and NEDD4-like (NEDD4L/NEDD42)

smart00456
Location:449 → 481

WW; Domain with 2 conserved Trp (W) residues

smart00119
Location:542 → 871

HECTc; Domain Homologous to E6-AP Carboxyl Terminus with

cd00078
Location:518 → 872

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

pfam00397
Location:325 → 354

WW; WW domain