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Protein

Embryonal Fyn-associated substrate

Gene

EFS

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Docking protein which plays a central coordinating role for tyrosine-kinase-based signaling related to cell adhesion. May serve as an activator of SRC and a downstream effector. Interacts with the SH3 domain of FYN and with CRK, SRC, and YES (By similarity).By similarity

GO - Molecular functioni

  • protein domain specific binding Source: UniProtKB

GO - Biological processi

  • cell adhesion Source: UniProtKB-KW
  • intracellular signal transduction Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Cell adhesion

Enzyme and pathway databases

BioCyciZFISH:ENSG00000100842-MONOMER.
SignaLinkiO43281.

Names & Taxonomyi

Protein namesi
Recommended name:
Embryonal Fyn-associated substrate
Short name:
hEFS
Alternative name(s):
Cas scaffolding protein family member 3
Gene namesi
Name:EFS
Synonyms:CASS3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:16898. EFS.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: ProtInc
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

DisGeNETi10278.
OpenTargetsiENSG00000100842.
PharmGKBiPA134887136.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000869401 – 561Embryonal Fyn-associated substrateAdd BLAST561

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei253Phosphotyrosine; by SRCBy similarity1

Post-translational modificationi

Phosphorylated on multiple tyrosine residues. Phosphorylated on tyrosines by FYN and SRC (By similarity).By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiO43281.
PaxDbiO43281.
PeptideAtlasiO43281.
PRIDEiO43281.

PTM databases

iPTMnetiO43281.
PhosphoSitePlusiO43281.

Expressioni

Tissue specificityi

The protein has been detected in lung and placenta.

Gene expression databases

BgeeiENSG00000100842.
CleanExiHS_EFS.
GenevisibleiO43281. HS.

Organism-specific databases

HPAiHPA001581.
HPA001790.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
ABI2Q9NYB93EBI-718488,EBI-743598
FYNP062413EBI-718488,EBI-515315
NUP155O756943EBI-718488,EBI-1050769
OSTF1Q928823EBI-718488,EBI-1051152
SORBS2O948753EBI-718488,EBI-311323
TSSK1BQ9BXA73EBI-718488,EBI-6423734
ZNF417Q8TAU33EBI-718488,EBI-740727

GO - Molecular functioni

  • protein domain specific binding Source: UniProtKB

Protein-protein interaction databases

BioGridi115567. 21 interactors.
IntActiO43281. 25 interactors.
MINTiMINT-1387604.
STRINGi9606.ENSP00000216733.

Structurei

3D structure databases

ProteinModelPortaliO43281.
SMRiO43281.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini5 – 68SH3PROSITE-ProRule annotationAdd BLAST64

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni438 – 488Divergent helix-loop-helix motifAdd BLAST51

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi305 – 311SH3-bindingSequence analysis7
Motifi335 – 341SH3-bindingSequence analysis7

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi67 – 350Pro-richAdd BLAST284

Domaini

Contains a central domain (substrate domain) containing multiple potential SH2-binding sites and a C-terminal domain containing a divergent helix-loop-helix (HLH) motif. The SH2-binding sites putatively bind CRK, NCK and ABL SH2 domains.
The SH3-binding sites that bind to the SRC SH3 domain are required for interaction with CRK and are implicated in promotion of serum response element (SRE) activation. The SH3 domain interacts with PTK2/FAK1.

Sequence similaritiesi

Belongs to the CAS family.Curated
Contains 1 SH3 domain.PROSITE-ProRule annotation

Keywords - Domaini

SH3 domain, SH3-binding

Phylogenomic databases

eggNOGiENOG410IEDN. Eukaryota.
ENOG410YE49. LUCA.
GeneTreeiENSGT00490000043324.
HOGENOMiHOG000054204.
HOVERGENiHBG003073.
InParanoidiO43281.
OMAiPMAEEYD.
OrthoDBiEOG091G0RVA.
PhylomeDBiO43281.
TreeFamiTF328782.

Family and domain databases

InterProiIPR021901. CAS_DUF3513.
IPR001452. SH3_domain.
[Graphical view]
PfamiPF12026. DUF3513. 1 hit.
PF14604. SH3_9. 1 hit.
[Graphical view]
PRINTSiPR00452. SH3DOMAIN.
SMARTiSM00326. SH3. 1 hit.
[Graphical view]
SUPFAMiSSF50044. SSF50044. 1 hit.
PROSITEiPS50002. SH3. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform Efs1 (identifier: O43281-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAIATSTQLA RALYDNTAES PQELSFRRGD VLRVLQREGA GGLDGWCLCS
60 70 80 90 100
LHGQQGIVPA NRVKLLPAGP APKPSLSPAS PAQPGSPYPA PDHSNEDQEV
110 120 130 140 150
YVVPPPARPC PTSGPPAGPC PPSPDLIYKI PRASGTQLAA PRDALEVYDV
160 170 180 190 200
PPTALRVPSS GPYDCPASFS HPLTRVAPQP PGEDDAPYDV PLTPKPPAEL
210 220 230 240 250
EPDLEWEGGR EPGPPIYAAP SNLKRASALL NLYEAPEELL ADGEGGGTDE
260 270 280 290 300
GIYDVPLLGP EAPPSPEPPG ALASHDQDTL AQLLARSPPP PHRPRLPSAE
310 320 330 340 350
SLSRRPLPAL PVPEAPSPSP VPSPAPGRKG SIQDRPLPPP PPRLPGYGGP
360 370 380 390 400
KVEGDPEGRE MEDDPAGHHN EYEGIPMAEE YDYVHLKGMD KAQGSRPPDQ
410 420 430 440 450
ACTGDPELPE RGMPAPQEAL SPGEPLVVST GDLQLLYFYA GQCQSHYSAL
460 470 480 490 500
QAAVAALMSS TQANQPPRLF VPHSKRVVVA AHRLVFVGDT LGRLAASAPL
510 520 530 540 550
RAQVRAAGTA LGQALRATVL AVKGAALGYP SSPAIQEMVQ CVTELAGQAL
560
QFTTLLTSLA P
Length:561
Mass (Da):58,815
Last modified:June 1, 1998 - v1
Checksum:i30FFF1AD4C9D1C4A
GO
Isoform Efs2 (identifier: O43281-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     7-99: Missing.

Show »
Length:468
Mass (Da):48,978
Checksum:i9A79AE9E435FA3AB
GO
Isoform 3 (identifier: O43281-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     7-99: Missing.
     186-261: Missing.

Note: No experimental confirmation available.
Show »
Length:392
Mass (Da):40,957
Checksum:i8899D25BBF667728
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0540887T → A.Corresponds to variant rs2231798dbSNPEnsembl.1
Natural variantiVAR_054089100V → M.Corresponds to variant rs2231801dbSNPEnsembl.1
Natural variantiVAR_035912361M → I in a colorectal cancer sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0042327 – 99Missing in isoform Efs2 and isoform 3. 3 PublicationsAdd BLAST93
Alternative sequenceiVSP_054584186 – 261Missing in isoform 3. 1 PublicationAdd BLAST76

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB001466 mRNA. Translation: BAA24588.1.
AB001467 mRNA. Translation: BAA24589.1.
AK295933 mRNA. Translation: BAG58718.1.
AK314221 mRNA. Translation: BAG36894.1.
AL049829 Genomic DNA. No translation available.
CH471078 Genomic DNA. Translation: EAW66164.1.
BC034246 mRNA. Translation: AAH34246.1.
CCDSiCCDS61404.1. [O43281-3]
CCDS9595.1. [O43281-1]
CCDS9596.1. [O43281-2]
RefSeqiNP_001264103.1. NM_001277174.1. [O43281-3]
NP_005855.1. NM_005864.3. [O43281-1]
NP_115835.1. NM_032459.2. [O43281-2]
UniGeneiHs.24587.

Genome annotation databases

EnsembliENST00000216733; ENSP00000216733; ENSG00000100842. [O43281-1]
ENST00000351354; ENSP00000340607; ENSG00000100842. [O43281-2]
ENST00000429593; ENSP00000416684; ENSG00000100842. [O43281-3]
GeneIDi10278.
KEGGihsa:10278.
UCSCiuc001wjo.5. human. [O43281-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB001466 mRNA. Translation: BAA24588.1.
AB001467 mRNA. Translation: BAA24589.1.
AK295933 mRNA. Translation: BAG58718.1.
AK314221 mRNA. Translation: BAG36894.1.
AL049829 Genomic DNA. No translation available.
CH471078 Genomic DNA. Translation: EAW66164.1.
BC034246 mRNA. Translation: AAH34246.1.
CCDSiCCDS61404.1. [O43281-3]
CCDS9595.1. [O43281-1]
CCDS9596.1. [O43281-2]
RefSeqiNP_001264103.1. NM_001277174.1. [O43281-3]
NP_005855.1. NM_005864.3. [O43281-1]
NP_115835.1. NM_032459.2. [O43281-2]
UniGeneiHs.24587.

3D structure databases

ProteinModelPortaliO43281.
SMRiO43281.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115567. 21 interactors.
IntActiO43281. 25 interactors.
MINTiMINT-1387604.
STRINGi9606.ENSP00000216733.

PTM databases

iPTMnetiO43281.
PhosphoSitePlusiO43281.

Proteomic databases

MaxQBiO43281.
PaxDbiO43281.
PeptideAtlasiO43281.
PRIDEiO43281.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000216733; ENSP00000216733; ENSG00000100842. [O43281-1]
ENST00000351354; ENSP00000340607; ENSG00000100842. [O43281-2]
ENST00000429593; ENSP00000416684; ENSG00000100842. [O43281-3]
GeneIDi10278.
KEGGihsa:10278.
UCSCiuc001wjo.5. human. [O43281-1]

Organism-specific databases

CTDi10278.
DisGeNETi10278.
GeneCardsiEFS.
HGNCiHGNC:16898. EFS.
HPAiHPA001581.
HPA001790.
MIMi609906. gene.
neXtProtiNX_O43281.
OpenTargetsiENSG00000100842.
PharmGKBiPA134887136.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IEDN. Eukaryota.
ENOG410YE49. LUCA.
GeneTreeiENSGT00490000043324.
HOGENOMiHOG000054204.
HOVERGENiHBG003073.
InParanoidiO43281.
OMAiPMAEEYD.
OrthoDBiEOG091G0RVA.
PhylomeDBiO43281.
TreeFamiTF328782.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000100842-MONOMER.
SignaLinkiO43281.

Miscellaneous databases

GenomeRNAii10278.
PROiO43281.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000100842.
CleanExiHS_EFS.
GenevisibleiO43281. HS.

Family and domain databases

InterProiIPR021901. CAS_DUF3513.
IPR001452. SH3_domain.
[Graphical view]
PfamiPF12026. DUF3513. 1 hit.
PF14604. SH3_9. 1 hit.
[Graphical view]
PRINTSiPR00452. SH3DOMAIN.
SMARTiSM00326. SH3. 1 hit.
[Graphical view]
SUPFAMiSSF50044. SSF50044. 1 hit.
PROSITEiPS50002. SH3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiEFS_HUMAN
AccessioniPrimary (citable) accession number: O43281
Secondary accession number(s): B2RAJ7
, B4DJ56, E9PGU2, O43282
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: June 1, 1998
Last modified: November 30, 2016
This is version 138 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.