1. Gene
  2. EFS - embryonal Fyn-associated substrate Gene

EFS - embryonal Fyn-associated substrate Gene

Homo sapiens

Also known as SIN; CAS3; EFS1; EFS2; HEFS; CASS3

Gene ID: 10278 | Gene type: protein coding

About EFS

Cytogenetic location: 14q11.2 Genomic coordinates (GRCh38): 14:23,356,406-23,365,172 (from NCBI)

This gene has 3 transcripts (splice variants), 184 orthologues and 3 paralogues. Broad expression in skin (RPKM 22.8), ovary (RPKM 15.1) and 22 other tissues.

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]

EFS Products(4)

mRNA Protein Name
NM_001277174.2 NP_001264103.1 embryonal Fyn-associated substrate isoform 3
NM_001385607.1 NP_001372536.1 embryonal Fyn-associated substrate isoform 4
NM_005864.4 NP_005855.1 embryonal Fyn-associated substrate isoform 1
NM_032459.3 NP_115835.1 embryonal Fyn-associated substrate isoform 2
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
enables protein domain specific binding IPI
IPI: Inferred from physical interaction
11984006 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EFS Protein Structure

SH3_9

SH3_9: Variant SH3 domain (12 - 63)

DUF3513

DUF3513: Domain of unknown function (DUF3513) (365 - 556)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 561 a.a.
Protein Preferred Names Protein Names

embryonal Fyn-associated substrate

Cas scaffolding protein family member 3

EFS Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
EFS O43281 NUP155 Homo sapiens O75694
Y2H Prey Pooling
25416956
Intra
EFS O43281 NUP155 Homo sapiens O75694
Validated Y2H
25416956
Intra
EFS O43281 NUP155 Homo sapiens O75694
Y2H Array
25416956
Intra
EFS O43281 OSTF1 Homo sapiens Q92882
Validated Y2H
25416956
Intra
EFS O43281 OSTF1 Homo sapiens Q92882
Y2H Prey Pooling
25416956
Intra
EFS O43281 OSTF1 Homo sapiens Q92882
Y2H Array
25416956
Intra
EFS O43281 BLK Homo sapiens P51451
Y2H Array
31515488
Intra
EFS O43281 BLK Homo sapiens P51451
Y2H Array
29892012
Intra
EFS O43281 SORBS2 Homo sapiens O94875
Y2H Array
25416956
Intra
EFS O43281 SORBS2 Homo sapiens O94875
Y2H Prey Pooling
25416956
Intra
EFS O43281 FYN Homo sapiens P06241
Y2H Prey Pooling
25416956
Intra
EFS O43281 FYN Homo sapiens P06241
Validated Y2H
25416956
Intra
EFS O43281 FYN Homo sapiens P06241
Y2H Array
25416956
Intra
EFS O43281 TSSK1B Homo sapiens Q9BXA7
Y2H Prey Pooling
25416956
Intra
EFS O43281 ZNF417 Homo sapiens Q8TAU3
Validated Y2H
25416956
Intra
EFS O43281 ABI2 Homo sapiens Q9NYB9
Validated Y2H
25416956
Intra
EFS O43281 ABI2 Homo sapiens Q9NYB9
Y2H Array
29892012
Intra
EFS O43281 ABI2 Homo sapiens Q9NYB9
Y2H Prey Pooling
25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Hymenolepiasis

Dwarf Tapeworm Infection

Hymenolepis Infectious Disease

Hymenolepsis Infection

Hyemolepis Nana Infection

Hymenolepiosis

Hymenolepis Infection

Dwarf Tapeworm

Hymenolepidosis

Hymenolepis Infestation

Cone-Rod Dystrophy, X-Linked, 1

CORDX1

X-Linked Cone-Rod Dystrophy 1

Cod1

Cone Dystrophy X-Linked 1

X-Linked Cone Dystrophy 1

Cone-Rod Dystrophy X-Linked 1

Cone-Rod Dystrophy, X-Linked 1

Dystrophy, Cone-Rod, X-Linked, Type 1

Cone Dystrophy, X-Linked, 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta EFS VGNC VGNC:72056
Bos taurus EFS VGNC VGNC:28363
Felis catus EFS VGNC VGNC:61753
Canis familiaris EFS VGNC VGNC:40233
Rattus norvegicus EFS RGD RGD:1308966
Mus musculus EFS MGD MGI:105311