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

Gene ID: 4739, updated on 1-Mar-2015
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; HPRD:11888; MIM:602265; Vega:OTTHUMG00000014255
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]
Orthologs
See NEDD9 in MapViewer
Location:
6p24.2
Exon count:
11
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 Neighboring gene small integral membrane protein 13 Neighboring gene uncharacterized LOC102724361 Neighboring gene protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) pseudogene 5 Neighboring gene transmembrane protein 170B

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
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

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

  • B Cell Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
    B Cell Receptor Signaling Pathway, organism-specific biosystemThe B cell receptor includes membrane ?? heavy chain molecules bound to a light chain and an Ig alpha (CD79A)/Ig beta (CD79B) heterodimer. Activation of the B cell receptor involves phosphorylation o...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein 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 
cell adhesion 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 
mitotic nuclear division IEA
Inferred from Electronic Annotation
more info
 
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
 
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
focal adhesion IEA
Inferred from Electronic Annotation
more info
 
lamellipodium IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
spindle TAS
Traceable Author Statement
more info
PubMed 
spindle pole IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
enhancer of filamentation 1
Names
enhancer of filamentation 1
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

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 proteins identical to 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/TrEMBL
    A0A024QZV9
    UniProtKB/Swiss-Prot
    Q14511
    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
    cd11570
    Location:704831
    FAT-like_NEDD9_C; C-terminal FAT-like Four helix bundle domain, also called DUF3513, 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
  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/TrEMBL
    A0A087WUD2
    UniProtKB/Swiss-Prot
    Q14511
    Related
    ENSP00000478563, ENST00000620854
    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
    cd11570
    Location:555682
    FAT-like_NEDD9_C; C-terminal FAT-like Four helix bundle domain, also called DUF3513, of CAS (Crk-Associated Substrate) scaffolding protein, Neural precursor cell Expressed, Developmentally Down-regulated 9; a protein interaction module
  3. NM_006403.3NP_006394.1  enhancer of filamentation 1 isoform 1

    See proteins identical to 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, OTTHUMP00000016030, ENST00000379446, OTTHUMT00000039853
    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
    cd11570
    Location:704831
    FAT-like_NEDD9_C; C-terminal FAT-like Four helix bundle domain, also called DUF3513, 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
  4. NM_182966.3NP_892011.2  enhancer of filamentation 1 isoform 2

    See proteins identical to 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
    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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38 Primary Assembly

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

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 Alternate CHM1_1.1

    Range
    11185979..11385008
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000138.1 Alternate HuRef

    Range
    11114819..11313849
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)