Nedd9 neural precursor cell expressed, developmentally down-regulated gene 9 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Nedd9provided by MGI
Official Full Name: neural precursor cell expressed, developmentally down-regulated gene 9provided by MGI
Primary source: MGI:MGI:97302
See related: Ensembl:ENSMUSG00000021365 AllianceGenome:MGI:97302
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: CasL; HEF1; MEF1; p105; Cas-L; Nedd-9
Summary: Predicted to enable protein tyrosine kinase binding activity. Acts upstream of or within activation of GTPase activity. Located in nucleus and spindle pole. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; limb mesenchyme; and nose. Orthologous to human NEDD9 (neural precursor cell expressed, developmentally down-regulated 9). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in lung adult (RPKM 23.8), spleen adult (RPKM 20.3) and 22 other tissues See more
Orthologs: human all
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Genomic context

Location:: 13 A3.3- A4; 13 20.43 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (41463392..41640836, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (41309916..41487362, complement)

Chromosome 13 - NC_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The scaffold protein NEDD9 is necessary for leukemia-cell migration and disease progression in a mouse model of chronic lymphocytic leukemia.
Title: The scaffold protein NEDD9 is necessary for leukemia-cell migration and disease progression in a mouse model of chronic lymphocytic leukemia.
Nedd9 Restrains Autophagy to Limit Growth of Early Stage Non-Small Cell Lung Cancer.
Title: Nedd9 Restrains Autophagy to Limit Growth of Early Stage Non-Small Cell Lung Cancer.
a new role for Cas-L in T-cell activation, is reported.
Title: Actin polymerization-dependent activation of Cas-L promotes immunological synapse stability.
These results suggest that Nedd9 is a Smad2/3 target gene implicated in RANKL-induced osteoclastogenesis.
Title: Identification of Nedd9 as a TGF-β-Smad2/3 Target Gene Involved in RANKL-Induced Osteoclastogenesis by Comprehensive Analysis.
NEDD9 is required for the maintenance of dendritic spines in the hippocampus.
Title: Mice null for NEDD9 (HEF1α) display extensive hippocampal dendritic spine loss and cognitive impairment.
NEDD9 has an essential role in development as well as in neoplastic cell proliferation, apoptosis, adhesion, migration and invasion. (Review)
Title: Roles of neural precursor cell expressed, developmentally downregulated 9 in tumor-associated cellular processes (Review).
Thus the RARE upstream of the Nedd9 2B promoter is necessary for much of the endogenous gene expression during early development as well as ectopic expression in response to atRA.
Title: A complex RARE is required for the majority of Nedd9 embryonic expression.
suggest that Cas-L/NEDD9 plays a pivotal role in the pathophysiology of CIA, and that Cas-L/NEDD9 may be a potential molecular target for the treatment of RA
Title: The role of Cas-L/NEDD9 as a regulator of collagen-induced arthritis in a murine model.
Data indicate that Src kinase modulates the transit time of NEDD9 (neural precursor cell expressed developmentally down-regulated gene 9) at focal adhesion sites.
Title: Src kinase determines the dynamic exchange of the docking protein NEDD9 (neural precursor cell expressed developmentally down-regulated gene 9) at focal adhesions.
These results indicated an important modifier action of Nedd9 on autosomal dominant polycystic kidney disease pathogenesis involving failure to activate Aurora-A.
Title: Nedd9 restrains renal cystogenesis in Pkd1-/- mice.

Submit: New GeneRIF Correction See all GeneRIFs (22)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (3) 1 citation
Chemically induced (ENU) (1)
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Nedd9 (e-PCR), detects polymorphism
- UniSTS:498271

D13Mit118 (e-PCR), detects polymorphism
- UniSTS:126944

Nedd9 (e-PCR), detects polymorphism
- UniSTS:547557

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein tyrosine kinase binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within activation of GTPase activity	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within cell adhesion	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell cycle	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell division	IEA Inferred from Electronic Annotation more info
involved_in cell migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell surface receptor protein tyrosine kinase signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in cilium disassembly	ISO Inferred from Sequence Orthology more info
involved_in learning or memory	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lymphocyte migration into lymphoid organs	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell migration	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of dendritic spine maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of immunological synapse formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of lymphocyte chemotaxis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of osteoclast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein tyrosine kinase activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of substrate adhesion-dependent cell spreading	ISO Inferred from Sequence Orthology more info
involved_in regulation of actin cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in ciliary basal body	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in focal adhesion	ISO Inferred from Sequence Orthology more info
located_in immunological synapse	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in mitotic spindle	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
colocalizes_with plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in spindle pole	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: enhancer of filamentation 1

Names: CRK-associated substrate-related protein; Crk-associated substrate lymphocyte-specific protein

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.

mRNA and Protein(s)

NM_001111324.2 → NP_001104794.1 enhancer of filamentation 1 isoform 1

See identical proteins and their annotated locations for NP_001104794.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes isoform 1.

Source sequence(s)

AK046357, AK083374, AV367231, BB842569, BY001380

Consensus CDS

CCDS49247.1

UniProtKB/Swiss-Prot

O35177, Q8BJL8, Q8BK90, Q8BL52, Q8BM94, Q8BMI9, Q99KE7

Related

ENSMUSP00000021794.7, ENSMUST00000021794.14

Conserved Domains (3) summary

cd11550
Location:400 → 560

Serine_rich_NEDD9; Serine rich Four helix bundle domain of CAS (Crk-Associated Substrate) scaffolding protein, Neural precursor cell Expressed, Developmentally Down-regulated 9; a protein interaction module

cd12002
Location:7 → 63

SH3_NEDD9; Src homology 3 domain of CAS (Crk-Associated Substrate) scaffolding protein family member, Neural precursor cell Expressed, Developmentally Down-regulated 9

pfam12026
Location:620 → 827

DUF3513; Domain of unknown function (DUF3513)
NM_017464.5 → NP_059492.3 enhancer of filamentation 1 isoform 2

See identical proteins and their annotated locations for NP_059492.3

Status: VALIDATED

Description

Transcript Variant: This variant (2) contains an alternate 5'-most exon and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is the same length as isoform 1.

Source sequence(s)

AA198880, AA762918, AK033729, AK054179, AV367231

Consensus CDS

CCDS36640.2

UniProtKB/TrEMBL

A0A0R4J212

Related

ENSMUSP00000125773.2, ENSMUST00000163623.3

Conserved Domains (3) summary

cd11550
Location:400 → 560

Serine_rich_NEDD9; Serine rich Four helix bundle domain of CAS (Crk-Associated Substrate) scaffolding protein, Neural precursor cell Expressed, Developmentally Down-regulated 9; a protein interaction module

cd12002
Location:7 → 63

SH3_NEDD9; Src homology 3 domain of CAS (Crk-Associated Substrate) scaffolding protein family member, Neural precursor cell Expressed, Developmentally Down-regulated 9

pfam12026
Location:620 → 827

DUF3513; Domain of unknown function (DUF3513)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000079.7 Reference GRCm39 C57BL/6J

Range

41463392..41640836 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036157901.1 → XP_036013794.1 enhancer of filamentation 1 isoform X1

Conserved Domains (3) summary

cd11550
Location:401 → 561

Serine_rich_NEDD9; Serine rich Four helix bundle domain of CAS (Crk-Associated Substrate) scaffolding protein, Neural precursor cell Expressed, Developmentally Down-regulated 9; a protein interaction module

cd12002
Location:8 → 64

SH3_NEDD9; Src homology 3 domain of CAS (Crk-Associated Substrate) scaffolding protein family member, Neural precursor cell Expressed, Developmentally Down-regulated 9

pfam12026
Location:621 → 828

DUF3513; Domain of unknown function (DUF3513)