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    EFS embryonal Fyn-associated substrate [ Homo sapiens ]

    Gene ID: 10278, updated on 11-May-2012

    Summary

    Official Symbol
    EFSprovided by HGNC
    Official Full Name
    embryonal Fyn-associated substrateprovided by HGNC
    Primary source
    HGNC:16898
    See related
    Ensembl:ENSG00000100842; HPRD:09932; MIM:609906; Vega:OTTHUMG00000028741
    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
    SIN; CAS3; EFS1; EFS2; HEFS; CASS3
    Summary
    The protein encoded by this gene contains a SH3 domain, which is known to be important in intracellular signal transduction. The protein encoded by a similiar gene in mice was shown to be able to bind to SH3 domain of protein-tyrosine kinases. The function of this gene is unknown. Two alternatively spliced variants have been described. [provided by RefSeq, Jul 2008]

    Genomic context

    Location :
    14q11.2-q12
    Sequence :
    Chromosome: 14; NC_000014.8 (23825611..23834842, complement)

    Chromosome 14 - NC_000014.8Genomic Context describing neighboring genes Neighboring gene BCL2L2-PABPN1 readthrough Neighboring gene poly(A) binding protein, nuclear 1 Neighboring gene solute carrier family 22, member 17 Neighboring gene interleukin 25 Neighboring gene CKLF-like MARVEL transmembrane domain containing 5

    Genomic regions, transcripts, and products

    Bibliography

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    O43281 P56945 BCAR1    HPRD  PubMed  
    O43281 Q05397 PTK2    HPRD  PubMed  
    O43281 Q14289 PTK2B    HPRD  PubMed  
    O43281 Q05209 PTPN12    HPRD  PubMed  
    O43281 Q8N5H7 SH2D3C    HPRD  PubMed  
    O43281 O60504 SORBS3    HPRD  PubMed  
    O43281 O75865 TRAPPC6A    HPRD  PubMed  
    BioGRID:115567 BioGRID:114934 BCAR1    BioGRID  PubMed Two-hybrid 
    BioGRID:115567 BioGRID:107552 LYST    BioGRID  PubMed Two-hybrid 
    BioGRID:115567 BioGRID:111746 PTPN12    BioGRID  PubMed Reconstituted Complex 
    BioGRID:115567 BioGRID:199587 Ptk2    BioGRID  PubMed Reconstituted Complex 
    BioGRID:115567 BioGRID:248405 Ptk2b    BioGRID  PubMed Reconstituted Complex 
    BioGRID:115567 BioGRID:115355 SH2D3C    BioGRID  PubMed Two-hybrid 
    BioGRID:115567 BioGRID:115475 SORBS3    BioGRID  PubMed Two-hybrid 
    BioGRID:115567 BioGRID:122538 TRAPPC6A    BioGRID  PubMed Two-hybrid 

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein domain specific binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    embryonal Fyn-associated substrate
    Names
    embryonal Fyn-associated substrate
    Cas scaffolding protein family member 3
    signal transduction protein (SH3 containing)

    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_005864.2NP_005855.1  embryonal Fyn-associated substrate isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the full length isoform which contains a SH3 domain in the N-terminal region.
      Source sequence(s)
      AB001466, BE645250
      Consensus CDS
      CCDS9595.1
      UniProtKB/Swiss-Prot
      O43281
      Related
      ENSP00000216733, OTTHUMP00000164593, ENST00000216733, OTTHUMT00000071770
      Conserved Domains (2) summary
      cd00174
      Location:1065
      Blast Score: 157
      SH3; Src homology 3 domains; SH3 domains bind to proline-rich ligands with moderate affinity and selectivity, preferentially to PxxP motifs; they play a role in the regulation of enzymes by intramolecular interactions, changing the subcellular localization of ...
      cd11571
      Location:431560
      Blast Score: 587
      FAT-like_EFS_C; C-terminal FAT-like Four helix bundle domain, also called DUF3513, of CAS (Crk-Associated Substrate) scaffolding protein, Embryonal Fyn-associated Substrate; a protein interaction module
    2. NM_032459.1NP_115835.1  embryonal Fyn-associated substrate isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an internal region of the coding region. The reading frame is maintained, thus a shorter isoform is encoded that lacks the SH3 domain.
      Source sequence(s)
      AB001467, BE645250
      Consensus CDS
      CCDS9596.1
      UniProtKB/Swiss-Prot
      O43281
      Related
      ENSP00000340607, OTTHUMP00000164594, ENST00000351354, OTTHUMT00000071772
      Conserved Domains (1) summary
      cd11571
      Location:338467
      Blast Score: 583
      FAT-like_EFS_C; C-terminal FAT-like Four helix bundle domain, also called DUF3513, of CAS (Crk-Associated Substrate) scaffolding protein, Embryonal Fyn-associated Substrate; a protein interaction module

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000014.8 Reference GRCh37.p5 Primary Assembly

      Range
      23825611..23834842, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000146.1 Alternate HuRef

      Range
      3942029..3951261, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL049829.4 (138458..147689) None
    genomic CH471078.2 EAW66163.1
      EAW66164.1
    mRNA AB001466.1 BAA24588.1
    mRNA AB001467.1 BAA24589.1
    mRNA AI808817.1 None
    mRNA AK295933.1 BAG58718.1
    mRNA AK314221.1 BAG36894.1
    mRNA BC034246.1 AAH34246.1
    mRNA BC046403.1 None
    mRNA BE645250.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43281.1 GenPept UniProtKB/Swiss-Prot:O43281

      Supplemental Content

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