Reviewed, UniProtKB/Swiss-Prot O43281 (EFS_HUMAN)

Names and origin

Protein names

Recommended name:
    Embryonal Fyn-associated substrate
Alternative name(s):
    HEFS
    Cas scaffolding protein family member 3

Gene names

Name:	EFS
Synonyms:	CASS3

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	561 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	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.
Tissue specificity	The protein has been detected in lung and placenta.
Domain	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 focal adhesion kinase 1.
Post-translational modification	Phosphorylated on multiple tyrosine residues. Phosphorylated on tyrosines by FYN and SRC By similarity.
Sequence similarities	Belongs to the CAS family. Contains 1 SH3 domain.

Ontologies

Keywords
Biological process	Cell adhesion
Coding sequence diversity	Alternative splicing Polymorphism
Domain	SH3 domain SH3-binding
PTM	Phosphoprotein
Gene Ontology (GO)
Biological process	cell adhesion Inferred from electronic annotation. Source: UniProtKB-KW intracellular signaling cascade Ref.1 Traceable author statement. Source: ProtInc
Cellular component	cytoplasm Ref.1 Traceable author statement. Source: ProtInc
Molecular function	SH3 domain binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
ABL1	P00519	1	EBI-718488,EBI-375543
CRK	P46108	1	EBI-718488,EBI-886
GRB2	P62993	1	EBI-718488,EBI-401755
NCK1	P16333	1	EBI-718488,EBI-389883
PIK3R1	P27986	1	EBI-718488,EBI-79464
PLCG1	P19174	1	EBI-718488,EBI-79387
SRC	P12931	1	EBI-718488,EBI-621482

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform Efs1 (identifier: O43281-1)

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.

Isoform Efs2 (identifier: O43281-2)

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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 561	561	Embryonal Fyn-associated substrate		PRO_0000086940
Regions
	Domain	5 – 68	64	SH3
	Region	438 – 488	51	Divergent helix-loop-helix motif
	Motif	305 – 311	7	SH3-binding Potential
	Motif	335 – 341	7	SH3-binding Potential
	Compositional bias	67 – 350	284	Pro-rich
Amino acid modifications
	Modified residue	253	1	Phosphotyrosine; by SRC By similarity
Natural variations
	Alternative sequence	7 – 99	93	Missing in isoform Efs2.		VSP_004232
	Natural variant	361	1	M → I in a colorectal cancer sample; somatic mutation.		VAR_035912

Sequences

	Sequence		Length	Mass (Da)
	Isoform Efs1 [UniParc]. Last modified June 1, 1998. Version 1. Checksum: 30FFF1AD4C9D1C4A	FASTA	561	58,815
	10 20 30 40 50 60 MAIATSTQLA RALYDNTAES PQELSFRRGD VLRVLQREGA GGLDGWCLCS LHGQQGIVPA 70 80 90 100 110 120 NRVKLLPAGP APKPSLSPAS PAQPGSPYPA PDHSNEDQEV YVVPPPARPC PTSGPPAGPC 130 140 150 160 170 180 PPSPDLIYKI PRASGTQLAA PRDALEVYDV PPTALRVPSS GPYDCPASFS HPLTRVAPQP 190 200 210 220 230 240 PGEDDAPYDV PLTPKPPAEL EPDLEWEGGR EPGPPIYAAP SNLKRASALL NLYEAPEELL 250 260 270 280 290 300 ADGEGGGTDE GIYDVPLLGP EAPPSPEPPG ALASHDQDTL AQLLARSPPP PHRPRLPSAE 310 320 330 340 350 360 SLSRRPLPAL PVPEAPSPSP VPSPAPGRKG SIQDRPLPPP PPRLPGYGGP KVEGDPEGRE 370 380 390 400 410 420 MEDDPAGHHN EYEGIPMAEE YDYVHLKGMD KAQGSRPPDQ ACTGDPELPE RGMPAPQEAL 430 440 450 460 470 480 SPGEPLVVST GDLQLLYFYA GQCQSHYSAL QAAVAALMSS TQANQPPRLF VPHSKRVVVA 490 500 510 520 530 540 AHRLVFVGDT LGRLAASAPL RAQVRAAGTA LGQALRATVL AVKGAALGYP SSPAIQEMVQ 550 560 CVTELAGQAL QFTTLLTSLA P
	Isoform Efs2 [UniParc]. Checksum: 9A79AE9E435FA3AB		468	48,978
	10 20 30 40 50 60 MAIATSVYVV PPPARPCPTS GPPAGPCPPS PDLIYKIPRA SGTQLAAPRD ALEVYDVPPT 70 80 90 100 110 120 ALRVPSSGPY DCPASFSHPL TRVAPQPPGE DDAPYDVPLT PKPPAELEPD LEWEGGREPG 130 140 150 160 170 180 PPIYAAPSNL KRASALLNLY EAPEELLADG EGGGTDEGIY DVPLLGPEAP PSPEPPGALA 190 200 210 220 230 240 SHDQDTLAQL LARSPPPPHR PRLPSAESLS RRPLPALPVP EAPSPSPVPS PAPGRKGSIQ 250 260 270 280 290 300 DRPLPPPPPR LPGYGGPKVE GDPEGREMED DPAGHHNEYE GIPMAEEYDY VHLKGMDKAQ 310 320 330 340 350 360 GSRPPDQACT GDPELPERGM PAPQEALSPG EPLVVSTGDL QLLYFYAGQC QSHYSALQAA 370 380 390 400 410 420 VAALMSSTQA NQPPRLFVPH SKRVVVAAHR LVFVGDTLGR LAASAPLRAQ VRAAGTALGQ 430 440 450 460 ALRATVLAVK GAALGYPSSP AIQEMVQCVT ELAGQALQFT TLLTSLAP

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification of an Efs isoform that lacks the SH3 domain and chromosomal mapping of human Efs." Ishino M., Ohba T., Inazawa J., Sasaki H., Ariyama Y., Sasaki T. Oncogene 15:1741-1745(1997) [PubMed: 9349509] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS EFS1 AND EFS2). Tissue: Hippocampus.
[2]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM EFS2). Tissue: Brain.
[3]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] ILE-361.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AB001466 mRNA. Translation: BAA24588.1. AB001467 mRNA. Translation: BAA24589.1. BC034246 mRNA. Translation: AAH34246.1.
RefSeq	NP_005855.1. NP_115835.1.
UniGene	Hs.24587
3D structure databases
HSSP	HSSP built from PDB template 1GRI based on UniProtKB P29354.
ModBase	Search...
Protein-protein interaction databases
IntAct	O43281.
PTM databases
PhosphoSite	O43281.
Genome annotation databases
Ensembl	ENSG00000100842. Homo sapiens. [Contig view]
GeneID	10278.
KEGG	hsa:10278.
Organism-specific databases
H-InvDB	HIX0011539.
HGNC	HGNC:16898. EFS.
MIM	609906. gene.
PharmGKB	PA134887136.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOGENOM	O43281.
HOVERGEN	O43281.
Gene expression databases
ArrayExpress	O43281.
CleanEx	HS_EFS.
GermOnline	ENSG00000100842. Homo sapiens.
Family and domain databases
InterPro	IPR001452. SH3. [Graphical view]
Pfam	PF00018. SH3_1. 1 hit. [Graphical view]
PRINTS	PR00452. SH3DOMAIN.
ProDom	PD000066. SH3. 1 hit. [Graphical view] [Entries sharing at least one domain]
SMART	SM00326. SH3. 1 hit. [Graphical view]
PROSITE	PS50002. SH3. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	38936.
SOURCE	Search...

Entry information

Entry name

EFS_HUMAN

Accession

Primary (citable) accession number: O43281
Secondary accession number(s): O43282

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
Last sequence update:	June 1, 1998
Last modified:	November 25, 2008
This is version 69 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)