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NEDD9 neural precursor cell expressed, developmentally down-regulated 9 [ Homo sapiens (human) ]

Gene ID: 4739, updated on 21-Apr-2019

Summary

Official Symbol
NEDD9provided by HGNC
Official Full Name
neural precursor cell expressed, developmentally down-regulated 9provided by HGNC
Primary source
HGNC:HGNC:7733
See related
Ensembl:ENSG00000111859 MIM:602265
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
CAS2; CASL; HEF1; CAS-L; CASS2
Summary
The protein encoded by this gene is a member of the CRK-associated substrates family. Members of this family are adhesion docking molecules that mediate protein-protein interactions for signal transduction pathways. This protein is a focal adhesion protein that acts as a scaffold to regulate signaling complexes important in cell attachment, migration and invasion as well as apoptosis and the cell cycle. This protein has also been reported to have a role in cancer metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
Expression
Broad expression in lung (RPKM 35.3), placenta (RPKM 25.4) and 22 other tissues See more
Orthologs

Genomic context

See NEDD9 in Genome Data Viewer
Location:
6p24.2
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (11183298..11382348, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (11183531..11382581, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ELOVL fatty acid elongase 2 Neighboring gene ELOVL2 antisense RNA 1 Neighboring gene endogenous retrovirus group FRD member 1, envelope Neighboring gene small integral membrane protein 13 Neighboring gene uncharacterized LOC105374925 Neighboring gene uncharacterized LOC112267953 Neighboring gene uncharacterized LOC105374927 Neighboring gene uncharacterized LOC105374928 Neighboring gene uncharacterized LOC105374929

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2019-02-27)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated (2019-02-27)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.
NHGRI GWA Catalog
Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
capsid gag Depletion of the NEDD9 expression upregulates HIV-1 CA A92E mutant infectivity in CsA-untreated HeLa cells and downregulates its infectivity in CsA-treated HeLa cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • TGF-beta Signaling Pathway, organism-specific biosystem (from WikiPathways)
    TGF-beta Signaling Pathway, organism-specific biosystemThe signal transduction mechanisms underlying the pathophysiological activities of transforming growth factor-? (TGF-?) have been extensively studied since its discovery nearly 30 years ago. TGF-? li...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein tyrosine kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
actin filament bundle assembly NAS
Non-traceable Author Statement
more info
PubMed 
activation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
cell cycle IEA
Inferred from Electronic Annotation
more info
 
cell division IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton organization NAS
Non-traceable Author Statement
more info
PubMed 
integrin-mediated signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
positive regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein tyrosine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of substrate adhesion-dependent cell spreading IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of growth IEA
Inferred from Electronic Annotation
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
cell cortex IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
focal adhesion IEA
Inferred from Electronic Annotation
more info
 
lamellipodium IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus TAS
Traceable Author Statement
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
spindle TAS
Traceable Author Statement
more info
PubMed 
spindle pole IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
enhancer of filamentation 1
Names
Cas scaffolding protein family member 2
Crk-associated substrate related protein Cas-L
Enhancer of filamentation 1 p55
cas-like docking
neural precursor cell expressed developmentally down-regulated protein 9
p130Cas-related protein
renal carcinoma antigen NY-REN-12

NCBI Reference Sequences (RefSeq)

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)

  1. NM_001142393.1NP_001135865.1  enhancer of filamentation 1 isoform 3

    See identical proteins and their annotated locations for NP_001135865.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate 5' UTR and coding exon and initiates translation at an upstream AUG compared to variant 1. The resulting isoform (3) has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AA814628, AJ420493, AK292682, BC040207, DA778416
    Consensus CDS
    CCDS47373.1
    UniProtKB/Swiss-Prot
    Q14511
    UniProtKB/TrEMBL
    A0A024QZV9
    Related
    ENSP00000422871.1, ENST00000504387.5
    Conserved Domains (3) summary
    cd11550
    Location:401562
    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:763
    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:621828
    DUF3513; Domain of unknown function (DUF3513)
  2. NM_001271033.1NP_001257962.1  enhancer of filamentation 1 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame exon in the coding region compared to variant 1. It encodes isoform 4 which is shorter than isoform 1.
    Source sequence(s)
    AA814628, AW963532, BC040207, BP262776, DA660812
    Consensus CDS
    CCDS75400.1
    UniProtKB/Swiss-Prot
    Q14511
    UniProtKB/TrEMBL
    A0A087WUD2
    Related
    ENSP00000478563.1, ENST00000620854.4
    Conserved Domains (2) summary
    cd11550
    Location:252413
    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
    pfam12026
    Location:472679
    DUF3513; Domain of unknown function (DUF3513)
  3. NM_006403.4NP_006394.1  enhancer of filamentation 1 isoform 1

    See identical proteins and their annotated locations for NP_006394.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AA814628, AJ420493, AK292682, BC040207, DA778416
    Consensus CDS
    CCDS4520.1
    UniProtKB/Swiss-Prot
    Q14511
    Related
    ENSP00000368759.5, ENST00000379446.10
    Conserved Domains (3) summary
    cd11550
    Location:401562
    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:763
    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:621828
    DUF3513; Domain of unknown function (DUF3513)
  4. NM_182966.3NP_892011.2  enhancer of filamentation 1 isoform 2

    See identical proteins and their annotated locations for NP_892011.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks several exons and includes an alternate 3' terminal exon, compared to variant 1. It encodes isoform 2 which is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    BC020686, BC040207, DA778416
    Consensus CDS
    CCDS34340.1
    UniProtKB/Swiss-Prot
    Q14511
    Related
    ENSP00000368745.5, ENST00000379433.5
    Conserved Domains (1) summary
    cd12002
    Location:763
    SH3_NEDD9; Src homology 3 domain of CAS (Crk-Associated Substrate) scaffolding protein family member, Neural precursor cell Expressed, Developmentally Down-regulated 9

RNA

  1. NR_073131.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains an alternate 5' exon and three alternate internal exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AA814628, AW963532, BC040207, BX648041, DA676780
    Related
    ENST00000448183.6

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    11183298..11382348 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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