Nedd4l MGI Mouse Gene Detail - MGI:1933754 - neural precursor cell expressed, developmentally down-regulated gene 4-like

Nedd4l Gene Detail

Symbol

Nedd4l
Name

neural precursor cell expressed, developmentally down-regulated gene 4-like
Synonyms

1300012C07Rik, Nedd4-2, Nedd4b

Feature Type

protein coding gene
IDs

MGI:1933754
NCBI Gene: 83814
Gene Overview

MyGene.info: NEDD4L

Sequence Map

Chr18:64887756-65217826 bp, + strand
From Ensembl annotation of GRCm38

Mouse Genome Browser
Download
Sequence

330071 bp ± kb flank
Genome Browsers

VEGA | Ensembl | UCSC | NCBI

Genetic Map

Chromosome 18, 37.57 cM, cytoband E1
Mapping Data

3 experiments

Human Ortholog

NEDD4L, neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase

Vertebrate Orthologs

10

Human Ortholog

NEDD4L, neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
Orthology source: HomoloGene, HGNC
Synonyms

hNEDD4-2, NEDD4-2, NEDD4.2, PVNH7, RSP5
Links

HGNC:7728

NCBI Gene ID: 23327

neXtProt AC: NX_Q96PU5

UniProt: Q96PU5
Chr Location

18q21.31; chr18:58044362-58401540 (+) GRCh38.p7

HomoloGene

Vertebrate Homology Class 86986
1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
HCOP

human homology predictions: NEDD4L
Protein SuperFamily

E3 ubiquitin-protein ligase, SMURF1 type
Gene Tree

Nedd4l

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Phenotype Summary

42 phenotypes from 5 alleles in 6 genetic backgrounds
24 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

36
Gene trapped

28
Spontaneous

1
Targeted

7
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

46 strains or lines available

Mice homozygous for a null mutation display salt sensitive hypertension and high salt diet induced cardiac hypertrophy. A spontaneous mutation results in overt diabetes insipidus. Mice homozygous for a knock-out allele exhibit neonatal lethality with primary atelectasis.

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All GO Annotations

49
GO References

13

External Resources

FuncBase

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	receptor	receptor binding	RNA binding	transcription	transferase	transporter

Biological Process

nucleic acid-templated transcription	carbohydrate derivative metabolism	cell death	cell differentiation	cell proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

213
Tissues

55
cDNA Data

15
Literature Summary

8

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase nedd4l

ZFIN nedd4l

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Nedd4l interacts with 445 markers (Mir1a-1, Mir1a-2, Mir7-1, ...) View All

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All Sequences

90
RefSeq

33
UniProt

6
CCDS

CCDS29305.1, CCDS50309.1

Ensembl

ENSMUSG00000024589 (Evidence)
NCBI Gene

83814

			Length	Strain/Species	Flank
genomic	ENSMUSG00000024589	Ensembl Gene Model \| MGI Sequence Detail	330071	C57BL/6J	± kb
transcript	ENSMUST00000163516	Ensembl \| MGI Sequence Detail	8163	Not Applicable
polypeptide	ENSMUSP00000132838	Ensembl \| MGI Sequence Detail	976	Not Applicable

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SNPs within 2kb

3185 from dbSNP Build 142

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UniProt

6 Sequences
Protein Ontology

PR:000003191 E3 ubiquitin-protein ligase NEDD4-like

(term hierarchy)
PDB

1WR3, 1WR4, 1WR7
EC

2.3.2.26
InterPro Domains

IPR000008 C2 domain

IPR024928 E3 ubiquitin-protein ligase, SMURF1 type

IPR000569 HECT domain

IPR001202 WW domain

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All nucleic 16

cDNA 16

Microarray probesets 7

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MGI:1921413

Summaries

All 67

Developmental Gene Expression 8

Gene Ontology 13

Phenotypes 24
Earliest

J:165247 Shubert SB, Investigation of an Inherited Diabetes Insipidus in BALB/cByJ Mice. The Jackson Laboratory Summer Student Program, Eva M. Eicher, Sponsor. 1995;:1-15
Latest

J:239488 Wang H, et al., Endoplasmic reticulum stress up-regulates Nedd4-2 to induce autophagy. FASEB J. 2016 Jul;30(7):2549-56

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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