LOCUS       NM_003026               2617 bp    mRNA    linear   PRI 25-NOV-2024
DEFINITION  Homo sapiens SH3 domain containing GRB2 like 2, endophilin A1
            (SH3GL2), mRNA.
ACCESSION   NM_003026
VERSION     NM_003026.5
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 2617)
  AUTHORS   Bademosi,A.T., Decet,M., Kuenen,S., Calatayud,C., Swerts,J.,
            Gallego,S.F., Schoovaerts,N., Karamanou,S., Louros,N., Martin,E.,
            Sibarita,J.B., Vints,K., Gounko,N.V., Meunier,F.A., Economou,A.,
            Versees,W., Rousseau,F., Schymkowitz,J., Soukup,S.F. and
            Verstreken,P.
  TITLE     EndophilinA-dependent coupling between activity-induced calcium
            influx and synaptic autophagy is disrupted by a Parkinson-risk
            mutation
  JOURNAL   Neuron 111 (9), 1402-1422 (2023)
   PUBMED   36827984
  REMARK    GeneRIF: EndophilinA-dependent coupling between activity-induced
            calcium influx and synaptic autophagy is disrupted by a
            Parkinson-risk mutation.
REFERENCE   2  (bases 1 to 2617)
  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 2617)
  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   4  (bases 1 to 2617)
  AUTHORS   Jiang,X., Jin,X., Zhang,N. and Zhang,H.
  TITLE     A family of fuchs endothelial corneal dystrophy and anterior polar
            cataract with an analysis of whole exome sequencing
  JOURNAL   Ophthalmic Genet 41 (3), 263-270 (2020)
   PUBMED   32367751
  REMARK    GeneRIF: A family of fuchs endothelial corneal dystrophy and
            anterior polar cataract with an analysis of whole exome sequencing.
REFERENCE   5  (bases 1 to 2617)
  AUTHORS   Zhang,X.M., Francois,U., Silm,K., Angelo,M.F.,
            Fernandez-Busch,M.V., Maged,M., Martin,C., Bernard,V.,
            Cordelieres,F.P., Deshors,M., Pons,S., Maskos,U., Bemelmans,A.P.,
            Wojcik,S.M., El Mestikawy,S., Humeau,Y. and Herzog,E.
  TITLE     A proline-rich motif on VGLUT1 reduces synaptic vesicle super-pool
            and spontaneous release frequency
  JOURNAL   Elife 8, e50401 (2019)
   PUBMED   31663854
  REMARK    GeneRIF: In mammals, VGLUT1 gained a proline-rich sequence that
            recruits endophilinA1 and turns the transporter into a regulator of
            synaptic vesicles organization and spontaneous release.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2617)
  AUTHORS   Micheva,K.D., Kay,B.K. and McPherson,P.S.
  TITLE     Synaptojanin forms two separate complexes in the nerve terminal.
            Interactions with endophilin and amphiphysin
  JOURNAL   J Biol Chem 272 (43), 27239-27245 (1997)
   PUBMED   9341169
REFERENCE   7  (bases 1 to 2617)
  AUTHORS   Micheva,K.D., Ramjaun,A.R., Kay,B.K. and McPherson,P.S.
  TITLE     SH3 domain-dependent interactions of endophilin with amphiphysin
  JOURNAL   FEBS Lett 414 (2), 308-312 (1997)
   PUBMED   9315708
  REMARK    Erratum:[FEBS Lett 1997 Dec 8;419(1):150]
REFERENCE   8  (bases 1 to 2617)
  AUTHORS   Ringstad,N., Nemoto,Y. and De Camilli,P.
  TITLE     The SH3p4/Sh3p8/SH3p13 protein family: binding partners for
            synaptojanin and dynamin via a Grb2-like Src homology 3 domain
  JOURNAL   Proc Natl Acad Sci U S A 94 (16), 8569-8574 (1997)
   PUBMED   9238017
REFERENCE   9  (bases 1 to 2617)
  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 2617)
  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     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL133214.12 and AL139115.5.
            
            On Aug 31, 2019 this sequence version replaced NM_003026.4.
            
            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 :: AF036268.1, SRR14038193.1958871.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000380607.5/ ENSP00000369981.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-222               AL133214.12        81979-82200
            223-291             AL139115.5         95458-95526
            292-364             AL139115.5         109829-109901
            365-508             AL139115.5         134773-134916
            509-642             AL139115.5         135772-135905
            643-801             AL139115.5         137784-137942
            802-905             AL139115.5         139623-139726
            906-1036            AL139115.5         141759-141889
            1037-2617           AL139115.5         143936-145516
FEATURES             Location/Qualifiers
     source          1..2617
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p22.2"
     gene            1..2617
                     /gene="SH3GL2"
                     /gene_synonym="CNSA2; EEN-B1; SH3D2A; SH3P4"
                     /note="SH3 domain containing GRB2 like 2, endophilin A1"
                     /db_xref="GeneID:6456"
                     /db_xref="HGNC:HGNC:10831"
                     /db_xref="MIM:604465"
     exon            1..222
                     /gene="SH3GL2"
                     /gene_synonym="CNSA2; EEN-B1; SH3D2A; SH3P4"
                     /inference="alignment:Splign:2.1.0"
     CDS             178..1236
                     /gene="SH3GL2"
                     /gene_synonym="CNSA2; EEN-B1; SH3D2A; SH3P4"
                     /note="bA335L15.1 (SH3-domain GRB2-like 2); Endophilin A1
                     BAR domain; endophilin-1; SH3 domain protein 2A; SH3
                     domain-containing GRB2-like protein 2"
                     /codon_start=1
                     /product="endophilin-A1"
                     /protein_id="NP_003017.1"
                     /db_xref="CCDS:CCDS6483.1"
                     /db_xref="GeneID:6456"
                     /db_xref="HGNC:HGNC:10831"
                     /db_xref="MIM:604465"
                     /translation="MSVAGLKKQFHKATQKVSEKVGGAEGTKLDDDFKEMERKVDVTS
                     RAVMEIMTKTIEYLQPNPASRAKLSMINTMSKIRGQEKGPGYPQAEALLAEAMLKFGR
                     ELGDDCNFGPALGEVGEAMRELSEVKDSLDIEVKQNFIDPLQNLHDKDLREIQHHLKK
                     LEGRRLDFDYKKKRQGKIPDEELRQALEKFDESKEIAESSMFNLLEMDIEQVSQLSAL
                     VQAQLEYHKQAVQILQQVTVRLEERIRQASSQPRREYQPKPRMSLEFPTGDSTQPNGG
                     LSHTGTPKPSGVQMDQPCCRALYDFEPENEGELGFKEGDIITLTNQIDENWYEGMLHG
                     HSGFFPINYVEILVALPH"
     exon            223..291
                     /gene="SH3GL2"
                     /gene_synonym="CNSA2; EEN-B1; SH3D2A; SH3P4"
                     /inference="alignment:Splign:2.1.0"
     exon            292..364
                     /gene="SH3GL2"
                     /gene_synonym="CNSA2; EEN-B1; SH3D2A; SH3P4"
                     /inference="alignment:Splign:2.1.0"
     exon            365..508
                     /gene="SH3GL2"
                     /gene_synonym="CNSA2; EEN-B1; SH3D2A; SH3P4"
                     /inference="alignment:Splign:2.1.0"
     exon            509..642
                     /gene="SH3GL2"
                     /gene_synonym="CNSA2; EEN-B1; SH3D2A; SH3P4"
                     /inference="alignment:Splign:2.1.0"
     exon            643..801
                     /gene="SH3GL2"
                     /gene_synonym="CNSA2; EEN-B1; SH3D2A; SH3P4"
                     /inference="alignment:Splign:2.1.0"
     exon            802..905
                     /gene="SH3GL2"
                     /gene_synonym="CNSA2; EEN-B1; SH3D2A; SH3P4"
                     /inference="alignment:Splign:2.1.0"
     exon            906..1036
                     /gene="SH3GL2"
                     /gene_synonym="CNSA2; EEN-B1; SH3D2A; SH3P4"
                     /inference="alignment:Splign:2.1.0"
     exon            1037..2617
                     /gene="SH3GL2"
                     /gene_synonym="CNSA2; EEN-B1; SH3D2A; SH3P4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2595..2600
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SH3GL2"
                     /gene_synonym="CNSA2; EEN-B1; SH3D2A; SH3P4"
                     /note="hexamer: AATAAA"
     polyA_site      2617
                     /gene="SH3GL2"
                     /gene_synonym="CNSA2; EEN-B1; SH3D2A; SH3P4"
                     /note="major polyA site"
ORIGIN      
        1 gtcagagtgt ttctccgcaa gagcccgtgt cccgctaggc tccgcgccct cgcgcccata
       61 gccccggcgg cggcacgacc agaggcggcc aggggagcgc gccgccccgc tcggccctcc
      121 agtccccctc cgcctcctcc ctcccgcaca gcagccgcca gcgcggcctc ctgcaccatg
      181 tcggtggccg gcctcaagaa gcagttccat aaagccactc agaaagtgag tgagaaggtt
      241 ggaggagctg aaggaaccaa gctagatgat gacttcaaag agatggaaag gaaagtggat
      301 gtcaccagca gggctgtgat ggaaataatg actaaaacaa ttgaatacct tcaacccaat
      361 ccagcttcca gagctaagct cagcatgatc aacaccatgt caaaaatccg tggccaggag
      421 aaggggccag gctatcctca ggcagaggcg ctgctggcag aggccatgct caaatttgga
      481 agagagcttg gagatgattg caactttggc ccagcacttg gtgaggtcgg ggaggccatg
      541 cgggaactgt cggaggtcaa agactctttg gacatagaag tgaagcagaa cttcattgac
      601 cctcttcaga atcttcatga caaagatctt agggaaattc aacatcatct aaagaagttg
      661 gagggtcgac gcctggattt tgattataag aagaaacgac aaggcaagat tccggatgaa
      721 gagcttcgtc aagctctaga gaaatttgat gagtctaagg aaattgctga gtcaagcatg
      781 ttcaatctct tggagatgga tattgaacaa gtgagccagc tctctgcact tgtgcaagct
      841 cagctggagt accacaagca ggcagtccag atcctgcagc aagtcacggt cagactggaa
      901 gaaagaataa gacaggcttc atctcagcct agaagggaat atcaacctaa accacgaatg
      961 agcctggagt ttccaactgg agacagtact cagcccaatg ggggtctctc ccacacaggc
     1021 actcccaaac cttcaggtgt ccaaatggat cagccctgct gccgagctct gtacgacttt
     1081 gaacctgaaa atgaagggga gttgggattt aaagagggcg atatcatcac actcactaac
     1141 caaattgatg agaactggta tgaggggatg ctgcatggcc attcaggctt cttccccatc
     1201 aattatgtgg aaattctggt tgccctgccc cattaggatg ttatgctggc tggctcgcct
     1261 cctcttgacc cagatagtta cggttaacca ctgctttggc aatgctgctt ataacacatc
     1321 ccaagtgcag gccgcagtgg tccacgtcat ccagccccac caagtgactt tggttgactt
     1381 gtgggctccc acaggagtca tggtgatgga tgatatcctc ttagcctggt gggcgtggca
     1441 tgtgcttttt aaaacatcat ctgagaccag ccagtagtca cagaactgct gtttacacag
     1501 ttctcaggag gctgtggttt cttagaatat gaccatgagc catttcacag aaaaaccatc
     1561 ccaccgaaga tattgtctat caccccaggg gccatctgaa ggtctctttg catttctcca
     1621 tgcaaagagg agaaagcttt tgctttcaca ctgtcccttc ccaaatatgt gagtcatgga
     1681 attgtcaaag taagccttcc ctcaccagca aattgtctcc tgatctgaat gaatttgtct
     1741 cttaatgcat ccatagaaaa gtgttaattg tgggttcaaa gcattctctg caaataggca
     1801 tctcagctcc tcacacttat ggctatttct gacgtatagc cagttttctt ccctccttgc
     1861 tattaaagcc agagcggtaa ttccaaatta tttttcagta agacagttaa tcagcattat
     1921 tgtgagaggg actgaaaaga aattctccat tatgaggaat tgggaagaaa tctggtatcc
     1981 aagcttaaat ttcttgctat acagaaacta tgtatgtatt taggctattt ctgaagggca
     2041 cagggaaggg ggaacaaata tcttcacttc agttttattt gtgaattaca tgtttcatga
     2101 atccatttgg cacagagaca caaggaagaa aacactagta accatctttc cactagttca
     2161 tatactgaga aacagtaaat acctttcctt tccactttta ccctgtgttc tttgaacatc
     2221 atttgtgcag attctgccct caatgaggac caaataaaga tgatttttgt gcttagcagt
     2281 ttaaggtata tggctgcata tgcaaaactc tttcccaatt cagtcgctac ttttacttct
     2341 gccctttcta tccatcgtct tcattttgtg tgtacagtgc tgtgtgtaag cttatcagtg
     2401 tgttttttta tttgtatcag tcatgaaagt cctgttaggt atgcagagtt ctatttatct
     2461 agctgtacag actctttcag aggtttaacg tgctgcttcc gatgtgccac ctgcagtagt
     2521 ggatcatgtg gagtgaaagg caaatcttac tgcttaatgt ataaactctc accacaggaa
     2581 gcatcgctgt ttccaataaa tattgctgaa gacagaa
//
