LOCUS       NP_005855                561 aa            linear   PRI 27-APR-2025
DEFINITION  embryonal Fyn-associated substrate isoform 1 [Homo sapiens].
ACCESSION   NP_005855
VERSION     NP_005855.1
DBSOURCE    REFSEQ: accession NM_005864.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 561)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (residues 1 to 561)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 561)
  AUTHORS   Pavon,M.A., Arroyo-Solera,I., Leon,X., Tellez-Gabriel,M., Viros,D.,
            Gallardo,A., Cespedes,M.V., Casanova,I., Lopez-Pousa,A.,
            Barnadas,A., Quer,M. and Mangues,R.
  TITLE     The combined use of EFS, GPX2, and SPRR1A expression could
            distinguish favorable from poor clinical outcome among
            epithelial-like head and neck carcinoma subtypes
  JOURNAL   Head Neck 41 (6), 1830-1845 (2019)
   PUBMED   30652380
  REMARK    GeneRIF: The combined use of EFS, GPX2, and SPRR1A expression could
            distinguish favorable from poor clinical outcome among
            epithelial-like head and neck carcinoma subtypes.
REFERENCE   4  (residues 1 to 561)
  AUTHORS   Chen,S., Fragoza,R., Klei,L., Liu,Y., Wang,J., Roeder,K., Devlin,B.
            and Yu,H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   5  (residues 1 to 561)
  AUTHORS   Yang,X., Coulombe-Huntington,J., Kang,S., Sheynkman,G.M., Hao,T.,
            Richardson,A., Sun,S., Yang,F., Shen,Y.A., Murray,R.R., Spirohn,K.,
            Begg,B.E., Duran-Frigola,M., MacWilliams,A., Pevzner,S.J.,
            Zhong,Q., Wanamaker,S.A., Tam,S., Ghamsari,L., Sahni,N., Yi,S.,
            Rodriguez,M.D., Balcha,D., Tan,G., Costanzo,M., Andrews,B.,
            Boone,C., Zhou,X.J., Salehi-Ashtiani,K., Charloteaux,B., Chen,A.A.,
            Calderwood,M.A., Aloy,P., Roth,F.P., Hill,D.E., Iakoucheva,L.M.,
            Xia,Y. and Vidal,M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   6  (residues 1 to 561)
  AUTHORS   Wu,C., Ma,M.H., Brown,K.R., Geisler,M., Li,L., Tzeng,E., Jia,C.Y.,
            Jurisica,I. and Li,S.S.
  TITLE     Systematic identification of SH3 domain-mediated human
            protein-protein interactions by peptide array target screening
  JOURNAL   Proteomics 7 (11), 1775-1785 (2007)
   PUBMED   17474147
REFERENCE   7  (residues 1 to 561)
  AUTHORS   Tchernev,V.T., Mansfield,T.A., Giot,L., Kumar,A.M., Nandabalan,K.,
            Li,Y., Mishra,V.S., Detter,J.C., Rothberg,J.M., Wallace,M.R.,
            Southwick,F.S. and Kingsmore,S.F.
  TITLE     The Chediak-Higashi protein interacts with SNARE complex and signal
            transduction proteins
  JOURNAL   Mol Med 8 (1), 56-64 (2002)
   PUBMED   11984006
REFERENCE   8  (residues 1 to 561)
  AUTHORS   Cote,J.F., Charest,A., Wagner,J. and Tremblay,M.L.
  TITLE     Combination of gene targeting and substrate trapping to identify
            substrates of protein tyrosine phosphatases using PTP-PEST as a
            model
  JOURNAL   Biochemistry 37 (38), 13128-13137 (1998)
   PUBMED   9748319
REFERENCE   9  (residues 1 to 561)
  AUTHORS   Ohba,T., Ishino,M., Aoto,H. and Sasaki,T.
  TITLE     Dot far-western blot analysis of relative binding affinities of the
            Src homology 3 domains of Efs and its related proteins
  JOURNAL   Anal Biochem 262 (2), 185-192 (1998)
   PUBMED   9750131
REFERENCE   10 (residues 1 to 561)
  AUTHORS   Ishino,M., Ohba,T., Inazawa,J., Sasaki,H., Ariyama,Y. and Sasaki,T.
  TITLE     Identification of an Efs isoform that lacks the SH3 domain and
            chromosomal mapping of human Efs
  JOURNAL   Oncogene 15 (14), 1741-1745 (1997)
   PUBMED   9349509
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB001466.1.
            
            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].
            
            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.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB001466.1, AK314221.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2149178 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000216733.8/ ENSP00000216733.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..561
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     Protein         1..561
                     /product="embryonal Fyn-associated substrate isoform 1"
                     /note="Cas scaffolding protein family member 3; signal
                     transduction protein (SH3 containing)"
                     /calculated_mol_wt=58684
     Region          8..70
                     /region_name="SH3_EFS"
                     /note="Src homology 3 domain of CAS (Crk-Associated
                     Substrate) scaffolding protein family member, Embryonal
                     Fyn-associated Substrate; cd12003"
                     /db_xref="CDD:212936"
     Site            order(14,16,19,23,45..46,59,61..62)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212936"
     Region          67..>205
                     /region_name="PHA03307"
                     /note="transcriptional regulator ICP4; Provisional"
                     /db_xref="CDD:223039"
     Region          68..123
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O43281.1)"
     Region          171..215
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O43281.1)"
     Region          240..372
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O43281.1)"
     Site            253
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by SRC.
                     /evidence=ECO:0000250|UniProtKB:Q64355; propagated from
                     UniProtKB/Swiss-Prot (O43281.1)"
     Region          305..311
                     /region_name="SH3-binding. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (O43281.1)"
     Region          335..341
                     /region_name="SH3-binding. /evidence=ECO:0000255"
                     /note="propagated from UniProtKB/Swiss-Prot (O43281.1)"
     Region          371..556
                     /region_name="CAS_C"
                     /note="Crk-Associated Substrate C-terminal domain;
                     pfam12026"
                     /db_xref="CDD:463437"
     Region          390..422
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O43281.1)"
     Region          438..488
                     /region_name="Divergent helix-loop-helix motif"
                     /note="propagated from UniProtKB/Swiss-Prot (O43281.1)"
     CDS             1..561
                     /gene="EFS"
                     /gene_synonym="CAS3; CASS3; EFS1; EFS2; HEFS; SIN"
                     /coded_by="NM_005864.4:148..1833"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS9595.1"
                     /db_xref="GeneID:10278"
                     /db_xref="HGNC:HGNC:16898"
                     /db_xref="MIM:609906"
ORIGIN      
        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 p
//
