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    EFS embryonal Fyn-associated substrate [ Homo sapiens (human) ]

    Gene ID: 10278, updated on 27-Nov-2024

    Summary

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    Official Symbol
    EFSprovided by HGNC
    Official Full Name
    embryonal Fyn-associated substrateprovided by HGNC
    Primary source
    HGNC:HGNC:16898
    See related
    Ensembl:ENSG00000100842 MIM:609906; AllianceGenome:HGNC:16898
    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 is a member of the CAS (CRK-associated substrate) family of adaptor proteins which typically serve as scaffolds for the assembly of larger signaling complexes. These complexes form at the cell surface where integrin binding leads to the subsequent phosphorylation of a CAS protein. Additional binding of SRC family kinases leads to CAS hyperphosphorylation and the creation of binding sites for CRK and other proteins that cause actin cytoskeleton reorganization. This gene plays a role in integrin-mediated cell attachment, spreading, and migration and also plays a role in both normal and malignant cellular transformation. This broadly expressed gene has been shown to play a role in neurite outgrowth and its expression in the thymus and lymphocytes is important for T cell maturation and the development of immunological self-tolerance. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2020]
    Expression
    Broad expression in skin (RPKM 22.8), ovary (RPKM 15.1) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See EFS in Genome Data Viewer
    Location:
    14q11.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (23356406..23365172, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (17557422..17566188, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (23825615..23834381, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene BCL2L2-PABPN1 readthrough Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:23790419-23791230 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:23791231-23792040 Neighboring gene poly(A) binding protein nuclear 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5608 Neighboring gene solute carrier family 22 member 17 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23832478-23832978 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23832979-23833479 Neighboring gene interleukin 25 Neighboring gene CKLF like MARVEL transmembrane domain containing 5

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. EFS shows biallelic methylation in uveal melanoma with poor prognosis as well as tissue-specific methylation. Neumann LC, et al. BMC Cancer, 2011 Aug 26. PMID 21871071, Free PMC Article
    2. Decreased expression of EFS is correlated with the advanced prostate cancer. Sertkaya S, et al. Tumour Biol, 2015 Feb. PMID 25296736
    3. Identification of an Efs isoform that lacks the SH3 domain and chromosomal mapping of human Efs. Ishino M, et al. Oncogene, 1997 Oct 2. PMID 9349509
    4. Embryonal Fyn-associated substrate (EFS) and CASS4: The lesser-known CAS protein family members. Deneka A, et al. Gene, 2015 Oct 1. PMID 26119091, Free PMC Article
    5. The combined use of EFS, GPX2, and SPRR1A expression could distinguish favorable from poor clinical outcome among epithelial-like head and neck carcinoma subtypes. Pavón MA, et al. Head Neck, 2019 Jun. PMID 30652380

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The combined use of EFS, GPX2, and SPRR1A expression could distinguish favorable from poor clinical outcome among epithelial-like head and neck carcinoma subtypes.
      Title: The combined use of EFS, GPX2, and SPRR1A expression could distinguish favorable from poor clinical outcome among epithelial-like head and neck carcinoma subtypes.
    2. EFS and CASS4 protein function in the context of the larger CAS family group. [Review]
      Title: Embryonal Fyn-associated substrate (EFS) and CASS4: The lesser-known CAS protein family members.
    3. we suggest that EFS should be considered as a novel tumor suppressor gene in prostate cancer.
      Title: Decreased expression of EFS is correlated with the advanced prostate cancer.
    4. Analysis of 16 Uveal melanoma showed full methylation of the EFS CpG island in 8 (50%), no methylation in 5(31%)and partial methylation in 3 (19%)tumors. Kaplan-Meier analysis revealed higher risk of metastatic progression for tumors with EFS methylation.
      Title: EFS shows biallelic methylation in uveal melanoma with poor prognosis as well as tissue-specific methylation.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: New genetic associations detected in a host response study to hepatitis B vaccine.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein domain specific binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell surface receptor protein tyrosine kinase signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intracellular signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in focal adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    colocalizes_with plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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

    NCBI Reference Sequences (RefSeq)

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    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_001277174.2 → NP_001264103.1  embryonal Fyn-associated substrate isoform 3

      See identical proteins and their annotated locations for NP_001264103.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon and an alternate in-frame segment compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1. This isoform lacks the N-terminal SH3 domain found in isoform 1
      Source sequence(s)
      AL049829
      Consensus CDS
      CCDS61404.1
      UniProtKB/Swiss-Prot
      O43281
      Related
      ENSP00000416684.2, ENST00000429593.6
      Conserved Domains (1) summary
      pfam12026
      Location:203 → 387
      DUF3513; Domain of unknown function (DUF3513)

    2. NM_001385607.1 → NP_001372536.1  embryonal Fyn-associated substrate isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1. This isoform lacks the N-terminal SH3 domain found in isoform 1.
      Source sequence(s)
      AL049829
      Conserved Domains (1) summary
      cd11571
      Location:308 → 437
      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

    3. NM_005864.4 → NP_005855.1  embryonal Fyn-associated substrate isoform 1

      See identical proteins and their annotated locations for NP_005855.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). The N-terminal end of this isoform contains the SH3 domain.
      Source sequence(s)
      AB001466
      Consensus CDS
      CCDS9595.1
      UniProtKB/Swiss-Prot
      B2RAJ7, B4DJ56, E9PGU2, O43281, O43282
      Related
      ENSP00000216733.3, ENST00000216733.8
      Conserved Domains (2) summary
      cd12003
      Location:8 → 70
      SH3_EFS; Src homology 3 domain of CAS (Crk-Associated Substrate) scaffolding protein family member, Embryonal Fyn-associated Substrate
      pfam12026
      Location:372 → 556
      DUF3513; Domain of unknown function (DUF3513)

    4. NM_032459.3 → NP_115835.1  embryonal Fyn-associated substrate isoform 2

      See identical proteins and their annotated locations for NP_115835.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame coding exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1. This isoform lacks the N-terminal SH3 domain found in isoform 1.
      Source sequence(s)
      AB001466, AB001467
      Consensus CDS
      CCDS9596.1
      UniProtKB/Swiss-Prot
      O43281
      Related
      ENSP00000340607.3, ENST00000351354.3
      Conserved Domains (1) summary
      cd11571
      Location:338 → 467
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      23356406..23365172 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005267256.3 → XP_005267313.1  embryonal Fyn-associated substrate isoform X1

      Conserved Domains (2) summary
      cd11571
      Location:401 → 530
      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
      cd12003
      Location:8 → 70
      SH3_EFS; Src homology 3 domain of CAS (Crk-Associated Substrate) scaffolding protein family member, Embryonal Fyn-associated Substrate

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      17557422..17566188 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375269.1 → XP_054231244.1  embryonal Fyn-associated substrate isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43281.1 GenPept UniProtKB/Swiss-Prot:O43281

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