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

Gene ID: 4739, updated on 23-Sep-2022

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; AllianceGenome:HGNC:7733
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
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Genomic context

See NEDD9 in Genome Data Viewer
Location:
6p24.2
Exon count:
11
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (11183298..11382348, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (11051218..11250286, complement)
105.20220307 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 Sharpr-MPRA regulatory region 3750 Neighboring gene small integral membrane protein 13 Neighboring gene Sharpr-MPRA regulatory region 2452 Neighboring gene uncharacterized LOC124901256 Neighboring gene Sharpr-MPRA regulatory region 1219 Neighboring gene uncharacterized LOC105374925 Neighboring gene Sharpr-MPRA regulatory region 10259 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 Functions

What'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

EBI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein tyrosine kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in actin filament bundle assembly NAS
Non-traceable Author Statement
more info
PubMed 
involved_in actin filament reorganization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in activation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
involved_in cell adhesion IEA
Inferred from Electronic Annotation
more info
 
involved_in cell cycle IEA
Inferred from Electronic Annotation
more info
 
involved_in cell division IEA
Inferred from Electronic Annotation
more info
 
involved_in cell migration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cilium disassembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cytoskeleton organization NAS
Non-traceable Author Statement
more info
PubMed 
involved_in integrin-mediated signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
involved_in learning or memory ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in lymphocyte migration into lymphoid organs ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of cell migration ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of dendritic spine maintenance ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of immunological synapse formation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of lymphocyte chemotaxis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of osteoclast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of protein localization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of protein tyrosine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of substrate adhesion-dependent cell spreading IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of actin cytoskeleton organization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in signal transduction TAS
Traceable Author Statement
more info
PubMed 
involved_in transmembrane receptor protein tyrosine kinase signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
located_in basolateral plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cell cortex IEA
Inferred from Electronic Annotation
more info
 
located_in ciliary basal body IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in focal adhesion IDA
Inferred from Direct Assay
more info
PubMed 
located_in immunological synapse ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in lamellipodium IEA
Inferred from Electronic Annotation
more info
 
located_in mitotic spindle IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 
located_in spindle TAS
Traceable Author Statement
more info
PubMed 
located_in spindle pole ISS
Inferred from Sequence or Structural Similarity
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)

NEW Try the new Transcript table

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_001142393.2NP_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_001271033.2NP_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:470679
    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, Q5XKI0
    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_182966.4NP_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)
    AL136139, 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

    Source sequence(s)
    AA814628, AW963532, BC040207, BX648041, DA676780
    Related
    ENST00000448183.6

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    11051218..11250286 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)