LOCUS       NM_005864               2653 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens embryonal Fyn-associated substrate (EFS), transcript
            variant 1, mRNA.
ACCESSION   NM_005864
VERSION     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  (bases 1 to 2653)
  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  (bases 1 to 2653)
  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  (bases 1 to 2653)
  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  (bases 1 to 2653)
  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  (bases 1 to 2653)
  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  (bases 1 to 2653)
  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  (bases 1 to 2653)
  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  (bases 1 to 2653)
  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  (bases 1 to 2653)
  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 (bases 1 to 2653)
  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.
            
            On Nov 23, 2018 this sequence version replaced NM_005864.3.
            
            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##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2653              AB001466.1         462-3114
FEATURES             Location/Qualifiers
     source          1..2653
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     gene            1..2653
                     /gene="EFS"
                     /gene_synonym="CAS3; CASS3; EFS1; EFS2; HEFS; SIN"
                     /note="embryonal Fyn-associated substrate"
                     /db_xref="GeneID:10278"
                     /db_xref="HGNC:HGNC:16898"
                     /db_xref="MIM:609906"
     exon            1..165
                     /gene="EFS"
                     /gene_synonym="CAS3; CASS3; EFS1; EFS2; HEFS; SIN"
                     /inference="alignment:Splign:2.1.0"
     CDS             148..1833
                     /gene="EFS"
                     /gene_synonym="CAS3; CASS3; EFS1; EFS2; HEFS; SIN"
                     /note="isoform 1 is encoded by transcript variant 1; Cas
                     scaffolding protein family member 3; signal transduction
                     protein (SH3 containing)"
                     /codon_start=1
                     /product="embryonal Fyn-associated substrate isoform 1"
                     /protein_id="NP_005855.1"
                     /db_xref="CCDS:CCDS9595.1"
                     /db_xref="GeneID:10278"
                     /db_xref="HGNC:HGNC:16898"
                     /db_xref="MIM:609906"
                     /translation="MAIATSTQLARALYDNTAESPQELSFRRGDVLRVLQREGAGGLD
                     GWCLCSLHGQQGIVPANRVKLLPAGPAPKPSLSPASPAQPGSPYPAPDHSNEDQEVYV
                     VPPPARPCPTSGPPAGPCPPSPDLIYKIPRASGTQLAAPRDALEVYDVPPTALRVPSS
                     GPYDCPASFSHPLTRVAPQPPGEDDAPYDVPLTPKPPAELEPDLEWEGGREPGPPIYA
                     APSNLKRASALLNLYEAPEELLADGEGGGTDEGIYDVPLLGPEAPPSPEPPGALASHD
                     QDTLAQLLARSPPPPHRPRLPSAESLSRRPLPALPVPEAPSPSPVPSPAPGRKGSIQD
                     RPLPPPPPRLPGYGGPKVEGDPEGREMEDDPAGHHNEYEGIPMAEEYDYVHLKGMDKA
                     QGSRPPDQACTGDPELPERGMPAPQEALSPGEPLVVSTGDLQLLYFYAGQCQSHYSAL
                     QAAVAALMSSTQANQPPRLFVPHSKRVVVAAHRLVFVGDTLGRLAASAPLRAQVRAAG
                     TALGQALRATVLAVKGAALGYPSSPAIQEMVQCVTELAGQALQFTTLLTSLAP"
     exon            166..444
                     /gene="EFS"
                     /gene_synonym="CAS3; CASS3; EFS1; EFS2; HEFS; SIN"
                     /inference="alignment:Splign:2.1.0"
     exon            445..585
                     /gene="EFS"
                     /gene_synonym="CAS3; CASS3; EFS1; EFS2; HEFS; SIN"
                     /inference="alignment:Splign:2.1.0"
     exon            586..1308
                     /gene="EFS"
                     /gene_synonym="CAS3; CASS3; EFS1; EFS2; HEFS; SIN"
                     /inference="alignment:Splign:2.1.0"
     exon            1309..1398
                     /gene="EFS"
                     /gene_synonym="CAS3; CASS3; EFS1; EFS2; HEFS; SIN"
                     /inference="alignment:Splign:2.1.0"
     exon            1399..2653
                     /gene="EFS"
                     /gene_synonym="CAS3; CASS3; EFS1; EFS2; HEFS; SIN"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2377..2382
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EFS"
                     /gene_synonym="CAS3; CASS3; EFS1; EFS2; HEFS; SIN"
                     /note="hexamer: AATAAA"
     polyA_site      2396
                     /gene="EFS"
                     /gene_synonym="CAS3; CASS3; EFS1; EFS2; HEFS; SIN"
                     /note="major polyA site"
     regulatory      2635..2640
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EFS"
                     /gene_synonym="CAS3; CASS3; EFS1; EFS2; HEFS; SIN"
                     /note="hexamer: AATAAA"
     polyA_site      2653
                     /gene="EFS"
                     /gene_synonym="CAS3; CASS3; EFS1; EFS2; HEFS; SIN"
                     /note="major polyA site"
ORIGIN      
        1 ctttctcctc ctccaacctt ggcggaggcc acgactcagg cgccacagct gggggctaga
       61 ggccgcggac catggtgcgg ggcagccacc gctgaagtca gcaaaaccga gcctggcctg
      121 aggcaggctg cgcgggaggc caaagccatg gccattgcca cgtcgaccca gctggcccgg
      181 gcactgtatg acaacaccgc tgagtccccc caggagctgt ccttccgccg aggggatgtc
      241 ctacgggtcc tgcagagaga gggcgctggt ggactggacg gctggtgcct ctgctcccta
      301 cacggccagc agggcattgt gcccgccaac agggtgaagc tcttgcctgc tggcccagca
      361 cccaagccca gcctctctcc tgcgtcccca gcccagcctg gctcaccata tccagcccca
      421 gatcacagca atgaggacca ggaggtgtat gtggtgccgc ccccagctcg gccctgtcca
      481 acctcaggac ctccagctgg accttgccca ccctctcctg acctcatcta caaaatcccc
      541 agagctagtg ggacccagct ggctgctccc agagatgcct tggaggtcta cgatgtgccc
      601 cccaccgccc tccgggtgcc ctccagtggc ccctatgact gccctgcctc cttttcccac
      661 cctctgaccc gggttgcccc gcagccccct ggagaggatg atgctcccta tgatgtgcct
      721 ctgaccccaa agccacctgc agagctggaa ccagatctgg agtgggaagg aggccgggag
      781 ccggggcccc ccatctatgc tgccccctcc aacctgaaac gagcgtcagc cttactcaat
      841 ttgtatgaag cacccgagga actgctggca gacggggagg gcgggggcac tgatgagggg
      901 atctacgatg tgcctctgct ggggccagag gctccccctt ctccagagcc ccctggagcc
      961 ttggcctccc atgaccagga caccctggcc cagcttctgg ccagaagccc cccaccccca
     1021 cacaggcccc ggctcccctc agctgagagc ctgtcccgcc gccctctgcc tgccctgcct
     1081 gtccctgagg cccccagccc ctccccagtg ccctctcctg ccccaggccg gaagggcagc
     1141 atccaggacc ggcctctgcc cccaccccca ccccgcctgc ctggttatgg aggccccaag
     1201 gtcgaggggg atccagaggg cagggagatg gaggatgacc cagcaggaca ccacaatgag
     1261 tacgagggca ttccgatggc cgaggagtat gactatgtcc acctgaaggg catggacaaa
     1321 gctcagggat ctaggccccc ggatcaggcc tgcacagggg atcctgaact gcccgagagg
     1381 gggatgccgg cgccgcagga ggccctgtcc ccaggggagc cactggttgt gtccaccgga
     1441 gatctgcagc tcctgtactt ctatgctggg caatgccaga gccactactc agccctgcag
     1501 gcagccgtgg cagccctgat gtccagtacc caggctaatc agcccccgcg ccttttcgtg
     1561 ccccacagca agagggtggt ggtggctgct catcgcctgg tgtttgttgg ggacaccctg
     1621 ggccggctgg cagcctctgc ccctctgaga gcacaggtca gggctgcagg tacagcactg
     1681 ggccaggcat tgcgggccac tgtgctggct gtcaagggag ctgccctggg ctacccatcc
     1741 agccctgcca tccaagagat ggtgcagtgt gtaacagaac tggcagggca ggccctgcaa
     1801 ttcactaccc tgctcactag cctggctcca tgaaggtcct ttggcacagc tctgctcctc
     1861 ccctgcctgc caaagccccc ctttaggcct tgggtggctg gaaggctttg ttaagggact
     1921 aggagaaatg ggggtatctt tcccctttcc tgccctttct gctcatctca acctctcaca
     1981 gaggtgtctt ctccccctaa cctacagctt tttgtacaag ccattttgtg taaattattt
     2041 atatttaata ttattccctg ctttgtcagg agcaggtact aggctctggg gcagtgagga
     2101 actagatcct tctctcctca gcctagggtg gaggtcactg cactaccacc cacctctgga
     2161 agactggctg tgaaaagtca ggtggcagaa acctggggcc acatagagcc tctctctttt
     2221 cctgtttctt ggctctagaa gatcagcact gcactgttag ctgagagtgc gggcaagaca
     2281 taaactgtcc agagtttgaa ggttctcgga aagaccggag ggcttctccc cacagaaggc
     2341 ggagagagct ggggctcaga catgggtgtg caccttaata aaccctgctg tctgcctccc
     2401 tgactctgct tcttgggagc atggtgagca gccctggtgc tcagcagcca tacctatggg
     2461 acacacacta cgaaaaggat gcctttaggg tttgggggag attttactcc tttcttcaac
     2521 aactattcac tggacaagtt ctctgctccc atgacgcgcc aggcacagtt ctgcaagtat
     2581 attgtgaatg tattgttcta gtgggataca caaataagtc agttaaaata cataaataaa
     2641 aacataaacc tgc
//
