LOCUS       NM_003025               2516 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens SH3 domain containing GRB2 like 1, endophilin A2
            (SH3GL1), transcript variant 1, mRNA.
ACCESSION   NM_003025
VERSION     NM_003025.4
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 2516)
  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 2516)
  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 2516)
  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 2516)
  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 2516)
  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 2516)
  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 2516)
  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 2516)
  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 2516)
  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 2516)
  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, BC001270.1 and
            AC007292.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_003025.3.
            
            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 (1) represents the longest
            transcript and encodes the longest 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 :: BC098565.1, SRR1163657.444973.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000269886.7/ ENSP00000269886.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-73                BU838380.1         22-94
            74-949              BC001270.1         1-876
            950-950             AC007292.1         25834-25834         c
            951-2516            BC001270.1         878-2443
FEATURES             Location/Qualifiers
     source          1..2516
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..2516
                     /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..1286
                     /gene="SH3GL1"
                     /gene_synonym="CNSA1; EEN; SH3D2B; SH3P8"
                     /note="isoform 1 is encoded by transcript variant 1;
                     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 1"
                     /protein_id="NP_003016.1"
                     /db_xref="CCDS:CCDS32874.1"
                     /db_xref="GeneID:6455"
                     /db_xref="HGNC:HGNC:10830"
                     /db_xref="MIM:601768"
                     /translation="MSVAGLKKQFYKASQLVSEKVGGAEGTKLDDDFKEMEKKVDVTS
                     KAVTEVLARTIEYLQPNPASRAKLTMLNTVSKIRGQVKNPGYPQSEGLLGECMIRHGK
                     ELGGESNFGDALLDAGESMKRLAEVKDSLDIEVKQNFIDPLQNLCEKDLKEIQHHLKK
                     LEGRRLDFDYKKKRQGKIPDEELRQALEKFEESKEVAETSMHNLLETDIEQVSQLSAL
                     VDAQLDYHRQAVQILDELAEKLKRRMREASSRPKREYKPKPREPFDLGEPEQSNGGFP
                     CTTAPKIAASSSFRSSDKPIRTPSRSMPPLDQPSCKALYDFEPENDGELGFHEGDVIT
                     LTNQIDENWYEGMLDGQSGFFPLSYVEVLVPLPQ"
     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..510
                     /gene="SH3GL1"
                     /gene_synonym="CNSA1; EEN; SH3D2B; SH3P8"
                     /inference="alignment:Splign:2.1.0"
     exon            511..644
                     /gene="SH3GL1"
                     /gene_synonym="CNSA1; EEN; SH3D2B; SH3P8"
                     /inference="alignment:Splign:2.1.0"
     exon            645..803
                     /gene="SH3GL1"
                     /gene_synonym="CNSA1; EEN; SH3D2B; SH3P8"
                     /inference="alignment:Splign:2.1.0"
     exon            804..907
                     /gene="SH3GL1"
                     /gene_synonym="CNSA1; EEN; SH3D2B; SH3P8"
                     /inference="alignment:Splign:2.1.0"
     exon            908..1032
                     /gene="SH3GL1"
                     /gene_synonym="CNSA1; EEN; SH3D2B; SH3P8"
                     /inference="alignment:Splign:2.1.0"
     exon            1033..1089
                     /gene="SH3GL1"
                     /gene_synonym="CNSA1; EEN; SH3D2B; SH3P8"
                     /inference="alignment:Splign:2.1.0"
     exon            1090..2516
                     /gene="SH3GL1"
                     /gene_synonym="CNSA1; EEN; SH3D2B; SH3P8"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2497..2502
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SH3GL1"
                     /gene_synonym="CNSA1; EEN; SH3D2B; SH3P8"
                     /note="hexamer: ATTAAA"
     polyA_site      2516
                     /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 acccagcctc gcgggctaag ctgaccatgc tcaacacggt gtccaagatc cggggccagg
      421 tgaagaaccc cggctacccg cagtcggagg ggcttctggg cgagtgcatg atccgccacg
      481 ggaaggagct gggcggcgag tccaactttg gtgacgcatt gctggatgcc ggcgagtcca
      541 tgaagcgcct ggcagaggtg aaggactccc tggacatcga ggtcaagcag aacttcattg
      601 accccctcca gaacctgtgc gagaaagacc tgaaggagat ccagcaccac ctgaagaaac
      661 tggagggccg ccgcctggac tttgactaca agaagaagcg gcagggcaag atccccgatg
      721 aggagctacg ccaggcgctg gagaagttcg aggagtccaa ggaggtggca gaaaccagca
      781 tgcacaacct cctggagact gacatcgagc aggtgagtca gctctcggcc ctggtggatg
      841 cacagctgga ctaccaccgg caggccgtgc agatcctgga cgagctggcg gagaagctca
      901 agcgcaggat gcgggaagct tcctcacgcc ctaagcggga gtataagccc aagccccggg
      961 agccctttga ccttggagag cctgagcagt ccaacggggg cttcccctgc accacagccc
     1021 ccaagatcgc agcttcatcg tctttccgat cttccgacaa gcccatccgg acccctagcc
     1081 ggagcatgcc gcccctggac cagccgagct gcaaggcgct gtacgacttc gagcccgaga
     1141 acgacgggga gctgggcttc catgagggcg acgtcatcac gctgaccaac cagatcgatg
     1201 agaactggta cgagggcatg ctggacggcc agtcgggctt cttcccgctc agctacgtgg
     1261 aggtgcttgt gcccctgccg cagtgactca cccgtgtccc cgccccgccc ctccgtccac
     1321 actggccggc accccctgct gggtctcctg cattccacgg agcccctgct gccagggcgg
     1381 tgtctgagcc tgccggcgcc acctgggccc cggcccttga ggtactccct gagcaggacc
     1441 ccacacttgg gtgggggggc ttatctgggt gggtggggat gcctgtttac actagcgctg
     1501 actcccaacg gtgacggctc ccttccccac tccatggcgc cagcctcctc ccccgctccc
     1561 caacttctcg cccagctggc cgaggcgggg caacactaag gtgctcttag aaacactaat
     1621 gttcctctgg ggcagccccc acctccgtcc tgacccgacg ggggcccggc ccactgccta
     1681 ccctcgagtc ccgcagcctt aacaggatgg gatcgagggt ccccatgggg tggctcagag
     1741 ataggaccct ggttttaaat ccctcccagc ctggtgctgg tgatgggccc tggccctact
     1801 ccagggccaa tgcacccccg cctcacacac gcactccttc tcctcaaggc cagggcagag
     1861 ggcctcaccg cctcccgggc ctgctgtcag cttgcagccc ggggacagag gccagctggg
     1921 atctgcctga ggacagagaa catggtctcc tgcagggccc tgcctcccaa gccccgccct
     1981 cagaaagcca agtacctttt cagcttttta actgccccca tcccaaccca gggaggcctg
     2041 tgtcactctg gcacaagctg ccaccaccag ccacccacac ccaccccagc acacctcaca
     2101 cgggaccaca gccgcgctgc cgagggccaa gcacaaaggt tccagtgagc gcatgtccca
     2161 gcccctggtg gccaggctcc ccttgctgag ccgctgccac ttcaccctgt gggaagtggc
     2221 cccagccatc tcctctagac caaggcaggc agccccgaca tctgcttcct ctatcgccca
     2281 atgcaaaatc gatgaaatgg ggagttctct gggccaggcc acattcacat tcccctcccc
     2341 ctgtggtcca gtgaagcctc cggaccccag gctctgctct gccctgccct gcacccccct
     2401 cgtcagaagt acatgagggg cgcagagatg agcacacagc tttgggcacg gtccagggca
     2461 aactgaaatg tacgcctgaa ttttgtaaac agaagtatta aatgtctctt tctaca
//
