EFS
Embryonal Fyn-associated substrate
Also known as: CASS3, EFS_HUMAN, EFS1, EFS2, HEFS, SIN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O43281
- Gene
- EFS
- Ensembl
- ENSG00000100842
- Chromosome
- 14
- Canonical length
- 561 aa
- Protein class
- Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytosol
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
561 residues, UniProt reviewed canonical sequence.
>O43281|EFS
1 MAIATSTQLA RALYDNTAES PQELSFRRGD VLRVLQREGA GGLDGWCLCS LHGQQGIVPA
61 NRVKLLPAGP APKPSLSPAS PAQPGSPYPA PDHSNEDQEV YVVPPPARPC PTSGPPAGPC
121 PPSPDLIYKI PRASGTQLAA PRDALEVYDV PPTALRVPSS GPYDCPASFS HPLTRVAPQP
181 PGEDDAPYDV PLTPKPPAEL EPDLEWEGGR EPGPPIYAAP SNLKRASALL NLYEAPEELL
241 ADGEGGGTDE GIYDVPLLGP EAPPSPEPPG ALASHDQDTL AQLLARSPPP PHRPRLPSAE
301 SLSRRPLPAL PVPEAPSPSP VPSPAPGRKG SIQDRPLPPP PPRLPGYGGP KVEGDPEGRE
361 MEDDPAGHHN EYEGIPMAEE YDYVHLKGMD KAQGSRPPDQ ACTGDPELPE RGMPAPQEAL
421 SPGEPLVVST GDLQLLYFYA GQCQSHYSAL QAAVAALMSS TQANQPPRLF VPHSKRVVVA
481 AHRLVFVGDT LGRLAASAPL RAQVRAAGTA LGQALRATVL AVKGAALGYP SSPAIQEMVQ
541 CVTELAGQAL QFTTLLTSLA PLocalizationUniProt · AlphaFold · HPA
Whether an antibody against EFS can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.59
- Highest tissue expression
- 75 nTPM
Expression across tissuesHPA
Tissue
- spinal cord: 75 nTPM
- skin: 64 nTPM
- cervix: 51 nTPM
- esophagus: 48 nTPM
- vagina: 47 nTPM
- ovary: 46 nTPM
Single-cell type
- oligodendrocytes: 64 nCPM
- schwann cells: 50 nCPM
- oligodendrocyte progenitor cells: 47 nCPM
- esophageal suprabasal cells: 40 nCPM
- hepatic stellate cells: 39 nCPM
- bergmann glia: 36 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- white matter: 134 nTPM
- medulla oblongata: 113 nTPM
- basal ganglia: 104 nTPM
- midbrain: 101 nTPM
- cerebellum: 89 nTPM
- pons: 87 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.22
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.38
- DepMap mean gene effect
- -0.06
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cell adhesion
- cell migration
- cell surface receptor protein tyrosine kinase signaling pathway
- intracellular signal transduction
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- SH3 domain
- CAS family, C-terminal
- SH3-like domain superfamily
- CAS family
- Crk-Associated Substrate C-terminal domain
- Variant SH3 domain
- Embryonal Fyn-associated substrate, SH3 domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of EFS in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads EFS as an antibody target. Whether an autoantibody or antibody against EFS could matter depends on whether native EFS is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
EFS is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label EFS as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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