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

    Gene ID: 4739, updated on 8-May-2017
    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; 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
    Location:
    6p24.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 LOC107986565 Neighboring gene uncharacterized LOC105374927 Neighboring gene uncharacterized LOC105374928 Neighboring gene uncharacterized LOC105374929

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    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

    • 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...
    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 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 
    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 
    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
     
    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

    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, OTTHUMP00000016031, ENST00000504387.5, OTTHUMT00000039854
      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_006403.3NP_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, OTTHUMP00000016030, ENST00000379446.9, 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
      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, OTTHUMP00000016032, ENST00000379433.5, OTTHUMT00000039855
      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, OTTHUMT00000367526

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p7 Primary Assembly

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018917.2 Alternate CHM1_1.1

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