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

Gene ID: 10278, updated on 11-Jun-2021

Summary

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
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
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Genomic context

See EFS in Genome Data Viewer
Location:
14q11.2
Exon count:
7
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (23356402..23365207, complement)
105.20201022 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 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

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 actin filament reorganization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cell adhesion IEA
Inferred from Electronic Annotation
more info
 
involved_in cell migration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in intracellular 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
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in focal adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
colocalizes_with plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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_001277174.2NP_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:203387
    DUF3513; Domain of unknown function (DUF3513)
  2. NM_001385607.1NP_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:308437
    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_005864.4NP_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
    O43281
    Related
    ENSP00000216733.3, ENST00000216733.8
    Conserved Domains (2) summary
    cd12003
    Location:870
    SH3_EFS; Src homology 3 domain of CAS (Crk-Associated Substrate) scaffolding protein family member, Embryonal Fyn-associated Substrate
    pfam12026
    Location:372556
    DUF3513; Domain of unknown function (DUF3513)
  4. NM_032459.3NP_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:338467
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    23356402..23365207 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005267256.2XP_005267313.1  embryonal Fyn-associated substrate isoform X1

    Conserved Domains (2) summary
    cd11571
    Location:401530
    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:870
    SH3_EFS; Src homology 3 domain of CAS (Crk-Associated Substrate) scaffolding protein family member, Embryonal Fyn-associated Substrate
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