NEDD4L - NEDD4 like E3 ubiquitin protein ligase Gene

Homo sapiens

Also known as RSP5; PVNH7; NEDD4-2; NEDD4.2; hNEDD4-2

Gene ID: 23327 | Gene type: protein coding

About NEDD4L

Cytogenetic location: 18q21.31 Genomic coordinates (GRCh38): 18:58,044,226-58,401,540 (from NCBI)

This gene has 62 transcripts (splice variants), 202 orthologues, 24 paralogues and is associated with 3 phenotypes. Broad expression in prostate (RPKM 13.1), kidney (RPKM 13.0) and 25 other tissues.

Summary

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]

NEDD4L Products(10)

mRNA	Protein	Name
NM_001144964.1	NP_001138436.1	E3 ubiquitin-protein ligase NEDD4-like isoform 2
NM_001144965.2	NP_001138437.1	E3 ubiquitin-protein ligase NEDD4-like isoform 2
NM_001144966.3	NP_001138438.1	E3 ubiquitin-protein ligase NEDD4-like isoform 2
NM_001144967.3	NP_001138439.1	E3 ubiquitin-protein ligase NEDD4-like isoform 1
NM_001144968.2	NP_001138440.1	E3 ubiquitin-protein ligase NEDD4-like isoform 4
NM_001144969.2	NP_001138441.1	E3 ubiquitin-protein ligase NEDD4-like isoform 5
NM_001144970.3	NP_001138442.1	E3 ubiquitin-protein ligase NEDD4-like isoform 6
NM_001144971.2	NP_001138443.1	E3 ubiquitin-protein ligase NEDD4-like isoform 6
NM_001243960.2	NP_001230889.1	E3 ubiquitin-protein ligase NEDD4-like isoform 7
NM_015277.6	NP_056092.2	E3 ubiquitin-protein ligase NEDD4-like isoform 3

NEDD4L Protein Structure

HECT

0
200
400
600
800
975 a.a.

Protein Preferred Names

Protein Names

E3 ubiquitin-protein ligase NEDD4-like

HECT-type E3 ubiquitin transferase NED4L

Related Diseases

Diseases

Alias

Periventricular Nodular Heterotopia 7

PVNH7

Periventricular Nodular Heterotopia

Periventricular Heterotopia	Pvnh
Familial Nodular Heterotopia	Heterotopia, Periventricular
Periventricular Heterotopia, X-Linked

Liddle Syndrome 1

Liddle Syndrome	Pseudoaldosteronism
Liddle'S Syndrome	LIDLS1
Lidls	Pseudohyperaldosteronism
Pseudoprimary Hyperaldosteronism	Pseudohyperaldosteronism Type 1
Liddles Syndrome

Hypertension, Essential

Essential Hypertension	Hypertension
High Blood Pressure	Hypertension, Essential, Susceptibility To
Hypertensive Disease	Primary Hypertension
EHT	Hypertension, Salt-Sensitive Essential, Susceptibility To
Hyperpiesia	Idiopathic Hypertension
Hypertensive Disorder	Hypertension, Essential, Susceptibility To, 3
Hypertension, Essential 3	Hypertension, Essential, Salt-Sensitive
Hypertension, Essential, Susceptibility To, 6	Hypertension, Essential 6
Hypertension, Salt-Sensitive Essential	Hypertension, Susceptibility To
Hypertension, Essential, Susceptibility To, 4	Hypertension, Essential 4
Hypertension, Essential, Susceptibility To, 2	Hypertension, Essential 2
Hypertension, Essential, Susceptibility To, 1	Hypertension, Essential 1
Hypertension, Essential, Susceptibility To, 5	Hypertension, Essential 5
Htn	Vascular Hypertensive Disorder
Systemic Primary Arterial Hypertension	Hbp - [High Blood Pressure]
Systemic Arterial Hypertensive Disorder	Elevated Blood Pressure
Arterial Hypertension Nos	Hypertension Nos
Benign Hypertension	Systemic Arterial Hypertension
Systemic Hypertension	Artery Htn
Benign Htn	Vascular Htn
Vascular Hypertension	Cholesterol Hypertension
Cholesterol Htn	Idiopathic Htn
Malignant Hypertension	Malignant Htn
Raised Blood Pressure	Cardiovascular Hypertension
Primary Htn - [Hypertension]	High Arterial Tension
High Blood Pressure Disorder	Ht - [Hypertension]
Htn - [Hypertension]	Hypertensive Vascular Disease
Hypertensive Vascular Degeneration

Long Qt Syndrome

Romano-Ward Syndrome	Long Q-T Syndrome
Lqt	Qt Syndrome, Long
Congenital Long Qt Syndrome	Familial Long Qt Syndrome

Dyslexia

Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome	Sudden Unexplained Nocturnal Death Syndrome
Bangungut	Brugada Type Idiopathic Ventricular Fibrillation
Pokkuri Death Syndrome	Sunds
Idiopathic Ventricular Fibrillation, Brugada Type	Sudden Unexplained Death
Dream Disease	Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome
Sudden Unexplained Death Syndrome	Suds
Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

Pure Autonomic Failure

Orthostatic Hypotension	Idiopathic Orthostatic Hypotension
Postural Hypotension	Bradbury-Eggleston Syndrome
Bradbury Eggleston Syndrome	Hypotension, Orthostatic
Hypotension, Postural	Paf
Pure Dysautonomia	Pure Idiopatic Dysautonomia
Hypotension Orthostatic	Primary Orthostatic Hypotension
Chronic Orthostatic Hypotension

Renal Tubular Transport Disease

Renal Tubular Transport, Inborn Errors

Inborn Renal Tubular Transport Disorder

Pseudohypoaldosteronism, Type I, Autosomal Recessive

Autosomal Recessive Pseudohypoaldosteronism Type 1	PHA1B
Pseudohypoaldosteronism Type 1	Pseudohypoaldosteronism, Type I
Generalized Pha1	Generalized Pseudohypoaldosteronism Type 1
Pseudohypoaldosteronism Type 1 Autosomal Recessive	Pha1
Pseudohypoaldosteronism	Pha I, Autosomal Recessive
Autosomal Recessive Pha 1	Pseudohypoaldosteronism Type 1, Recessive
Pseudohypoaldosteronism Type I	Autosomal Recessive Pha1
Pha Type 1	Pseudohypoaldosteronism 1, Autosomal Recessive
Multisystem Pseudohypoaldosteronism	Pha Type I, Autosomal Recessive
Pseudohypoaldosteronism Type I, Autosomal Recessive

Conn'S Syndrome

Cushing Syndrome	Hyperaldosteronism
Primary Hyperaldosteronism	Hypercortisolism
Primary Aldosteronism	Cushing'S Syndrome
Adrenal Gland Hyperfunction	Conn Syndrome
Hyperadrenalism	Ectopic Acth Syndrome
Hyperadrenocorticism	Cushing Disease
Cushing'S Disease	Adrenal Cortex Adenoma
Corticotroph Pituitary Adenoma	Pituitary Corticotroph Micro-Adenoma
Pituitary-Dependent Cushing Syndrome	Pituitary Acth Hypersecretion
Acth Syndrome, Ectopic	Acth-Secreting Pituitary Adenoma
Adrenal Hyperfunction Resulting From Pituitary Acth Excess	Ectopic Adrenocorticotropic Hormone Syndrome
Nodular Primary Adrenocortical Dysplasia	Pituitary Dependent Cushing Syndrome
Pituitary Cushing Syndrome	Pituitary-Dependant Cushing Syndrome
Pituitary-Dependant Hypercortisolism	Pituitary-Dependant Hypercortisolism Disorder
Aldosteronism Primary	Acth Syndrome Ectopic
Adrenal Cushing'S Syndrome	Adrenal Cortical Adenoma
Cushing Syndrome Nos	Cortisol Hypersecretion
Corticoadrenal Hypersecretion	Cushing Syndrome Secondary To Ectopic Acth-Secretion
Ectopic Cushing Syndrome	Hypercortisolism Due To Nonpituitary Tumour
Ectopic Acth - [Adrenocorticotropic Hormone] Secretion	Ectopic Acth - [Adrenocorticotropic Hormone] Secretion Causing Cushing Syndrome
Idiopathic Aldosteronism	Aldosteronism
Primary Aldosteronism Due To Bilateral Adrenal Hyperplasia	Primary Aldosteronism Due To Adrenal Hyperplasia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09180	NEDD4L Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	NEDD4L	VGNC	VGNC:68450
Rattus norvegicus	NEDD4L	RGD	RGD:735047
Bos taurus	NEDD4L	VGNC	VGNC:31983
Macaca mulatta	NEDD4L	VGNC	VGNC:75303
Mus musculus	NEDD4L	MGD	MGI:1933754
Canis familiaris	NEDD4L	VGNC	VGNC:43721
Others	NEDD4L	NCBI

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