• Gene id: 23327

Gene Summary

• Gene Symbol: NEDD4L   Gene   UCSC   Ensembl
• Aliases: NEDD4-2, NEDD4.2, PVNH7, RSP5, hNEDD4-2
• Gene name: NEDD4 like E3 ubiquitin protein ligase
• Alternate names: E3 ubiquitin-protein ligase NEDD4-like, HECT-type E3 ubiquitin transferase NED4L, neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase, ubiquitin-protein ligase Rsp5,
• Gene location: 18q21.31 (58044225: 58401539)     Exons: 41     NC_000018.10
• Gene summary(Entrez): 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
• OMIM: 606384

Protein Summary

• Protein general information: Q96PU5  
  • Name: E3 ubiquitin protein ligase NEDD4 like (EC 2.3.2.26) (HECT type E3 ubiquitin transferase NED4L) (NEDD4.2) (Nedd4 2)
  • Length: 975  
  • Mass: 111932
  • Tissue specificity: Ubiquitously expressed, with highest levels in prostate, pancreas and kidney (PubMed
• Sequence:

  MATGLGEPVYGLSEDEGESRILRVKVVSGIDLAKKDIFGASDPYVKLSLYVADENRELALVQTKTIKKTLNPKWN
  EEFYFRVNPSNHRLLFEVFDENRLTRDDFLGQVDVPLSHLPTEDPTMERPYTFKDFLLRPRSHKSRVKGFLRLKM
  AYMPKNGGQDEENSDQRDDMEHGWEVVDSNDSASQHQEELPPPPLPPGWEEKVDNLGRTYYVNHNNRTTQWHRPS
  LMDVSSESDNNIRQINQEAAHRRFRSRRHISEDLEPEPSEGGDVPEPWETISEEVNIAGDSLGLALPPPPASPGS
  RTSPQELSEELSRRLQITPDSNGEQFSSLIQREPSSRLRSCSVTDAVAEQGHLPPPSAPAGRARSSTVTGGEEPT
  PSVAYVHTTPGLPSGWEERKDAKGRTYYVNHNNRTTTWTRPIMQLAEDGASGSATNSNNHLIEPQIRRPRSLSSP
  TVTLSAPLEGAKDSPVRRAVKDTLSNPQSPQPSPYNSPKPQHKVTQSFLPPGWEMRIAPNGRPFFIDHNTKTTTW
  EDPRLKFPVHMRSKTSLNPNDLGPLPPGWEERIHLDGRTFYIDHNSKITQWEDPRLQNPAITGPAVPYSREFKQK
  YDYFRKKLKKPADIPNRFEMKLHRNNIFEESYRRIMSVKRPDVLKARLWIEFESEKGLDYGGVAREWFFLLSKEM
  FNPYYGLFEYSATDNYTLQINPNSGLCNEDHLSYFTFIGRVAGLAVFHGKLLDGFFIRPFYKMMLGKQITLNDME
  SVDSEYYNSLKWILENDPTELDLMFCIDEENFGQTYQVDLKPNGSEIMVTNENKREYIDLVIQWRFVNRVQKQMN
  AFLEGFTELLPIDLIKIFDENELELLMCGLGDVDVNDWRQHSIYKNGYCPNHPVIQWFWKAVLLMDAEKRIRLLQ
  FVTGTSRVPMNGFAELYGSNGPQLFTIEQWGSPEKLPRAHTCFNRLDLPPYETFEDLREKLLMAVENAQGFEGVD

• Structural information:
  • Protein Domains: (4..12-)
    (/note="C2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (193..22-)
    (/note="WW-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00224-)
    (385..41-)
    (/note="WW-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00224-)
    (497-)
  • Interpro: IPR000008  IPR035892  IPR024928  IPR000569  IPR035983   IPR001202  IPR036020  
  • Prosite: PS50004 PS50237 PS01159 PS50020
  • CDD: cd00078 cd00201
  • PDB: 2LAJ 2LB2 2LTY 2MPT 2NSQ 2ONI 3JVZ 3JW0 5HPK
  • PDBsum: 2LAJ 2LB2 2LTY 2MPT 2NSQ 2ONI 3JVZ 3JW0 5HPK
  • DIP: 41935
  • STRING: ENSP00000383199
• Other Databases: GeneCards:  NEDD4L  Malacards:  NEDD4L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0061630	ubiquitin protein ligase activity	IBA	molecular function
GO:0045732	positive regulation of protein catabolic process	IBA	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	IBA	biological process
GO:2000650	negative regulation of sodium ion transmembrane transporter activity	IBA	biological process
GO:1901380	negative regulation of potassium ion transmembrane transport	IBA	biological process
GO:0048814	regulation of dendrite morphogenesis	IBA	biological process
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0019871	sodium channel inhibitor activity	IBA	molecular function
GO:0016567	protein ubiquitination	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0000209	protein polyubiquitination	IBA	biological process
GO:0016567	protein ubiquitination	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016567	protein ubiquitination	IMP	biological process
GO:0031647	regulation of protein stability	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004842	ubiquitin-protein transferase activity	IEA	molecular function
GO:0006511	ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0061630	ubiquitin protein ligase activity	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0016032	viral process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	TAS	biological process
GO:0000209	protein polyubiquitination	TAS	biological process
GO:0019058	viral life cycle	TAS	biological process
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0004842	ubiquitin-protein transferase activity	TAS	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006513	protein monoubiquitination	IEA	biological process
GO:0045732	positive regulation of protein catabolic process	IEA	biological process
GO:0004842	ubiquitin-protein transferase activity	IEA	molecular function
GO:0015459	potassium channel regulator activity	IDA	molecular function
GO:0019870	potassium channel inhibitor activity	IDA	molecular function
GO:0019871	sodium channel inhibitor activity	IDA	molecular function
GO:0044325	ion channel binding	IPI	molecular function
GO:0044325	ion channel binding	IPI	molecular function
GO:0006511	ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0060306	regulation of membrane repolarization	IDA	biological process
GO:0070936	protein K48-linked ubiquitination	IDA	biological process
GO:1901017	negative regulation of potassium ion transmembrane transporter activity	IDA	biological process
GO:1902306	negative regulation of sodium ion transmembrane transport	IDA	biological process
GO:0003254	regulation of membrane depolarization	IDA	biological process
GO:0005886	plasma membrane	IDA	colocalizes with
GO:0016567	protein ubiquitination	IDA	biological process
GO:0034765	regulation of ion transmembrane transport	IDA	biological process
GO:0042391	regulation of membrane potential	IDA	biological process
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	biological process
GO:1901016	regulation of potassium ion transmembrane transporter activity	IDA	biological process
GO:1901380	negative regulation of potassium ion transmembrane transport	IDA	biological process
GO:2000009	negative regulation of protein localization to cell surface	IDA	biological process
GO:2000650	negative regulation of sodium ion transmembrane transporter activity	IDA	biological process
GO:0086005	ventricular cardiac muscle cell action potential	ISS	biological process
GO:2001288	positive regulation of caveolin-mediated endocytosis	ISS	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005771	multivesicular body	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0010038	response to metal ion	IDA	biological process
GO:0017080	sodium channel regulator activity	IDA	molecular function
GO:1903861	positive regulation of dendrite extension	IDA	biological process
GO:0042176	regulation of protein catabolic process	NAS	biological process
GO:0016567	protein ubiquitination	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0030104	water homeostasis	NAS	biological process
GO:0007588	excretion	NAS	biological process
GO:0006883	cellular sodium ion homeostasis	NAS	biological process
GO:0006814	sodium ion transport	NAS	biological process
GO:0004842	ubiquitin-protein transferase activity	NAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045807	positive regulation of endocytosis	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis
hsa04120	Ubiquitin mediated proteolysis
hsa04530	Tight junction
hsa04960	Aldosterone-regulated sodium reabsorption

Diseases

Associated diseases	References
Periventricular nodular heterotopia	KEGG:H00270
Periventricular nodular heterotopia	KEGG:H00270
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray