LOCUS       NM_001199943            2372 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens SH3 domain containing GRB2 like 1, endophilin A2
            (SH3GL1), transcript variant 2, mRNA.
ACCESSION   NM_001199943
VERSION     NM_001199943.2
KEYWORDS    RefSeq.
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 2372)
  AUTHORS   Sim,P.F., Chek,M.F., Nguyen,N.T.H., Nishimura,T., Inaba,T.,
            Hakoshima,T. and Suetsugu,S.
  TITLE     The SH3 binding site in front of the WH1 domain contributes to the
            membrane binding of the BAR domain protein endophilin A2
  JOURNAL   J Biochem 175 (1), 57-67 (2023)
   PUBMED   37812440
  REMARK    GeneRIF: The SH3 binding site in front of the WH1 domain
            contributes to the membrane binding of the BAR domain protein
            endophilin A2.
REFERENCE   2  (bases 1 to 2372)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   3  (bases 1 to 2372)
  AUTHORS   Malinova,D., Wasim,L., Newman,R., Martinez-Riano,A., Engels,N. and
            Tolar,P.
  TITLE     Endophilin A2 regulates B-cell endocytosis and is required for
            germinal center and humoral responses
  JOURNAL   EMBO Rep 22 (9), e51328 (2021)
   PUBMED   34323351
  REMARK    GeneRIF: Endophilin A2 regulates B-cell endocytosis and is required
            for germinal center and humoral responses.
REFERENCE   4  (bases 1 to 2372)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   5  (bases 1 to 2372)
  AUTHORS   Soubeyran,P., Kowanetz,K., Szymkiewicz,I., Langdon,W.Y. and
            Dikic,I.
  TITLE     Cbl-CIN85-endophilin complex mediates ligand-induced downregulation
            of EGF receptors
  JOURNAL   Nature 416 (6877), 183-187 (2002)
   PUBMED   11894095
  REMARK    Erratum:[Nature 2002 May 2;417(6884):102]
REFERENCE   6  (bases 1 to 2372)
  AUTHORS   So,C.W., Sham,M.H., Chew,S.L., Cheung,N., So,C.K., Chung,S.K.,
            Caldas,C., Wiedemann,L.M. and Chan,L.C.
  TITLE     Expression and protein-binding studies of the EEN gene family, new
            interacting partners for dynamin, synaptojanin and huntingtin
            proteins
  JOURNAL   Biochem J 348 Pt 2 (Pt 2), 447-458 (2000)
   PUBMED   10816441
REFERENCE   7  (bases 1 to 2372)
  AUTHORS   So,C.W., So,C.K., Cheung,N., Chew,S.L., Sham,M.H. and Chan,L.C.
  TITLE     The interaction between EEN and Abi-1, two MLL fusion partners, and
            synaptojanin and dynamin: implications for leukaemogenesis
  JOURNAL   Leukemia 14 (4), 594-601 (2000)
   PUBMED   10764144
REFERENCE   8  (bases 1 to 2372)
  AUTHORS   Cestra,G., Castagnoli,L., Dente,L., Minenkova,O., Petrelli,A.,
            Migone,N., Hoffmuller,U., Schneider-Mergener,J. and Cesareni,G.
  TITLE     The SH3 domains of endophilin and amphiphysin bind to the
            proline-rich region of synaptojanin 1 at distinct sites that
            display an unconventional binding specificity
  JOURNAL   J Biol Chem 274 (45), 32001-32007 (1999)
   PUBMED   10542231
REFERENCE   9  (bases 1 to 2372)
  AUTHORS   Giachino,C., Lantelme,E., Lanzetti,L., Saccone,S., Bella Valle,G.
            and Migone,N.
  TITLE     A novel SH3-containing human gene family preferentially expressed
            in the central nervous system
  JOURNAL   Genomics 41 (3), 427-434 (1997)
   PUBMED   9169142
REFERENCE   10 (bases 1 to 2372)
  AUTHORS   So,C.W., Caldas,C., Liu,M.M., Chen,S.J., Huang,Q.H., Gu,L.J.,
            Sham,M.H., Wiedemann,L.M. and Chan,L.C.
  TITLE     EEN encodes for a member of a new family of proteins containing an
            Src homology 3 domain and is the third gene located on chromosome
            19p13 that fuses to MLL in human leukemia
  JOURNAL   Proc Natl Acad Sci U S A 94 (6), 2563-2568 (1997)
   PUBMED   9122235
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BU838380.1, AK299166.1,
            X99656.1 and CK820395.1.
            
            On May 31, 2019 this sequence version replaced NM_001199943.1.
            
            Summary: This gene encodes a member of the endophilin family of Src
            homology 3 domain-containing proteins. The encoded protein is
            involved in endocytosis and may also play a role in the cell cycle.
            Overexpression of this gene may play a role in leukemogenesis, and
            the encoded protein has been implicated in acute myeloid leukemia
            as a fusion partner of the myeloid-lymphoid leukemia protein.
            Pseudogenes of this gene are located on the long arm of chromosomes
            11 and 17. Alternatively spliced transcript variants encoding
            multiple isoforms have been observed for this gene. [provided by
            RefSeq, Jan 2011].
            
            Transcript Variant: This variant (2) lacks an exon in the coding
            region but maintains the reading frame, compared to variant 1. The
            encoded isoform (2) is shorter than isoform 1.
            
            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 :: AK299166.1, ERR3218372.83389.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-22                BU838380.1         22-43
            23-805              AK299166.1         1-783
            806-2020            X99656.1           786-2000
            2021-2372           CK820395.1         23-374              c
FEATURES             Location/Qualifiers
     source          1..2372
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..2372
                     /gene="SH3GL1"
                     /gene_synonym="CNSA1; EEN; SH3D2B; SH3P8"
                     /note="SH3 domain containing GRB2 like 1, endophilin A2"
                     /db_xref="GeneID:6455"
                     /db_xref="HGNC:HGNC:10830"
                     /db_xref="MIM:601768"
     exon            1..224
                     /gene="SH3GL1"
                     /gene_synonym="CNSA1; EEN; SH3D2B; SH3P8"
                     /inference="alignment:Splign:2.1.0"
     CDS             180..1142
                     /gene="SH3GL1"
                     /gene_synonym="CNSA1; EEN; SH3D2B; SH3P8"
                     /note="isoform 2 is encoded by transcript variant 2;
                     SH3-domain GRB2-like 1; endophilin-A2; extra 11-19
                     leukemia fusion; SH3-containing Grb-2-like 1 protein;
                     endophilin-2; SH3 domain protein 2B; EEN fusion partner of
                     MLL; SH3 domain-containing GRB2-like protein 1; extra
                     eleven-nineteen leukemia fusion gene protein"
                     /codon_start=1
                     /product="endophilin-A2 isoform 2"
                     /protein_id="NP_001186872.1"
                     /db_xref="CCDS:CCDS56076.1"
                     /db_xref="GeneID:6455"
                     /db_xref="HGNC:HGNC:10830"
                     /db_xref="MIM:601768"
                     /translation="MSVAGLKKQFYKASQLVSEKVGGAEGTKLDDDFKEMEKKVDVTS
                     KAVTEVLARTIEYLQPNPGDALLDAGESMKRLAEVKDSLDIEVKQNFIDPLQNLCEKD
                     LKEIQHHLKKLEGRRLDFDYKKKRQGKIPDEELRQALEKFEESKEVAETSMHNLLETD
                     IEQVSQLSALVDAQLDYHRQAVQILDELAEKLKRRMREASSRPKREYKPKPREPFDLG
                     EPEQSNGGFPCTTAPKIAASSSFRSSDKPIRTPSRSMPPLDQPSCKALYDFEPENDGE
                     LGFHEGDVITLTNQIDENWYEGMLDGQSGFFPLSYVEVLVPLPQ"
     exon            225..293
                     /gene="SH3GL1"
                     /gene_synonym="CNSA1; EEN; SH3D2B; SH3P8"
                     /inference="alignment:Splign:2.1.0"
     exon            294..366
                     /gene="SH3GL1"
                     /gene_synonym="CNSA1; EEN; SH3D2B; SH3P8"
                     /inference="alignment:Splign:2.1.0"
     exon            367..500
                     /gene="SH3GL1"
                     /gene_synonym="CNSA1; EEN; SH3D2B; SH3P8"
                     /inference="alignment:Splign:2.1.0"
     exon            501..659
                     /gene="SH3GL1"
                     /gene_synonym="CNSA1; EEN; SH3D2B; SH3P8"
                     /inference="alignment:Splign:2.1.0"
     exon            660..763
                     /gene="SH3GL1"
                     /gene_synonym="CNSA1; EEN; SH3D2B; SH3P8"
                     /inference="alignment:Splign:2.1.0"
     exon            764..888
                     /gene="SH3GL1"
                     /gene_synonym="CNSA1; EEN; SH3D2B; SH3P8"
                     /inference="alignment:Splign:2.1.0"
     exon            889..945
                     /gene="SH3GL1"
                     /gene_synonym="CNSA1; EEN; SH3D2B; SH3P8"
                     /inference="alignment:Splign:2.1.0"
     exon            946..2372
                     /gene="SH3GL1"
                     /gene_synonym="CNSA1; EEN; SH3D2B; SH3P8"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2353..2358
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SH3GL1"
                     /gene_synonym="CNSA1; EEN; SH3D2B; SH3P8"
                     /note="hexamer: ATTAAA"
     polyA_site      2372
                     /gene="SH3GL1"
                     /gene_synonym="CNSA1; EEN; SH3D2B; SH3P8"
                     /note="major polyA site"
ORIGIN      
        1 aatatcctgg ccgcgcgggc gcgcgagcgg ctgaggcggc gccggggcgg gcgcggagct
       61 ggcaagcggg tggcggaggc ggcgccgacg gggactgctg aggcgcgcag agggtcggcg
      121 gcgcccggga gcctgtcgct ggcgcggtcc gggcgggagg ctcggcggcg ggcggcagca
      181 tgtcggtggc ggggctgaag aagcagttct acaaggcgag ccagctggtc agtgagaagg
      241 tcggaggggc cgaggggacc aagctggatg atgacttcaa agagatggag aagaaggtgg
      301 atgtcaccag caaggcggtg acagaagtgc tggccaggac catcgagtac ctgcagccca
      361 acccaggtga cgcattgctg gatgccggcg agtccatgaa gcgcctggca gaggtgaagg
      421 actccctgga catcgaggtc aagcagaact tcattgaccc cctccagaac ctgtgcgaga
      481 aagacctgaa ggagatccag caccacctga agaaactgga gggccgccgc ctggactttg
      541 actacaagaa gaagcggcag ggcaagatcc ccgatgagga gctacgccag gcgctggaga
      601 agttcgagga gtccaaggag gtggcagaaa ccagcatgca caacctcctg gagactgaca
      661 tcgagcaggt gagtcagctc tcggccctgg tggatgcaca gctggactac caccggcagg
      721 ccgtgcagat cctggacgag ctggcggaga agctcaagcg caggatgcgg gaagcttcct
      781 cacgccctaa gcgggagtat aagcccaagc cccgggagcc ctttgacctt ggagagcctg
      841 agcagtccaa cgggggcttc ccctgcacca cagcccccaa gatcgcagct tcatcgtctt
      901 tccgatcttc cgacaagccc atccggaccc ctagccggag catgccgccc ctggaccagc
      961 cgagctgcaa ggcgctgtac gacttcgagc ccgagaacga cggggagctg ggcttccatg
     1021 agggcgacgt catcacgctg accaaccaga tcgatgagaa ctggtacgag ggcatgctgg
     1081 acggccagtc gggcttcttc ccgctcagct acgtggaggt gcttgtgccc ctgccgcagt
     1141 gactcacccg tgtccccgcc ccgcccctcc gtccacactg gccggcaccc cctgctgggt
     1201 ctcctgcatt ccacggagcc cctgctgcca gggcggtgtc tgagcctgcc ggcgccacct
     1261 gggccccggc ccttgaggta ctccctgagc aggaccccac acttgggtgg gggggcttat
     1321 ctgggtgggt ggggatgcct gtttacacta gcgctgactc ccaacggtga cggctccctt
     1381 ccccactcca tggcgccagc ctcctccccc gctccccaac ttctcgccca gctggccgag
     1441 gcggggcaac actaaggtgc tcttagaaac actaatgttc ctctggggca gcccccacct
     1501 ccgtcctgac ccgacggggg cccggcccac tgcctaccct cgagtcccgc agccttaaca
     1561 ggatgggatc gagggtcccc atggggtggc tcagagatag gaccctggtt ttaaatccct
     1621 cccagcctgg tgctggtgat gggccctggc cctactccag ggccaatgca cccccgcctc
     1681 acacacgcac tccttctcct caaggccagg gcagagggcc tcaccgcctc ccgggcctgc
     1741 tgtcagcttg cagcccgggg acagaggcca gctgggatct gcctgaggac agagaacatg
     1801 gtctcctgca gggccctgcc tcccaagccc cgccctcaga aagccaagta ccttttcagc
     1861 tttttaactg cccccatccc aacccaggga ggcctgtgtc actctggcac aagctgccac
     1921 caccagccac ccacacccac cccagcacac ctcacacggg accacagccg cgctgccgag
     1981 ggccaagcac aaaggttcca gtgagcgcat gtcccagccc ctggtggcca ggctcccctt
     2041 gctgagccgc tgccacttca ccctgtggga agtggcccca gccatctcct ctagaccaag
     2101 gcaggcagcc ccgacatctg cttcctctat cgcccaatgc aaaatcgatg aaatggggag
     2161 ttctctgggc caggccacat tcacattccc ctccccctgt ggtccagtga agcctccgga
     2221 ccccaggctc tgctctgccc tgccctgcac ccccctcgtc agaagtacat gaggggcgca
     2281 gagatgagca cacagctttg ggcacggtcc agggcaaact gaaatgtacg cctgaatttt
     2341 gtaaacagaa gtattaaatg tctctttcta ca
//
