LOCUS       NM_001321134            3839 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens golgi SNAP receptor complex member 2 (GOSR2),
            transcript variant E, mRNA.
ACCESSION   NM_001321134 XM_005257845
VERSION     NM_001321134.2
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 3839)
  AUTHORS   Hentrich,L., Parnes,M., Lotze,T.E., Coorg,R., de Koning,T.J.,
            Nguyen,K.M., Yip,C.K., Jungbluth,H., Koy,A. and Dafsari,H.S.
  TITLE     Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive
            Myoclonus Epilepsy
  JOURNAL   Genes (Basel) 14 (10), 1860 (2023)
   PUBMED   37895210
  REMARK    GeneRIF: Novel Genetic and Phenotypic Expansion in GOSR2-Related
            Progressive Myoclonus Epilepsy.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3839)
  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 3839)
  AUTHORS   Yu,M., Tcheandjieu,C., Georges,A., Xiao,K., Tejeda,H., Dina,C., Le
            Tourneau,T., Fiterau,M., Judy,R., Tsao,N.L., Amgalan,D.,
            Munger,C.J., Engreitz,J.M., Damrauer,S.M., Bouatia-Naji,N. and
            Priest,J.R.
  TITLE     Computational estimates of annular diameter reveal genetic
            determinants of mitral valve function and disease
  JOURNAL   JCI Insight 7 (3), e146580 (2022)
   PUBMED   35132965
  REMARK    GeneRIF: Computational estimates of annular diameter reveal genetic
            determinants of mitral valve function and disease.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3839)
  AUTHORS   Donkervoort,S., Krause,N., Dergai,M., Yun,P., Koliwer,J.,
            Gorokhova,S., Geist Hauserman,J., Cummings,B.B., Hu,Y., Smith,R.,
            Uapinyoying,P., Ganesh,V.S., Ghosh,P.S., Monaghan,K.G.,
            Edassery,S.L., Ferle,P.E., Silverstein,S., Chao,K.R., Snyder,M.,
            Ellingwood,S., Bharucha-Goebel,D., Iannaccone,S.T., Dal Peraro,M.,
            Foley,A.R., Savas,J.N., Bolduc,V., Fasshauer,D., Bonnemann,C.G. and
            Schwake,M.
  TITLE     BET1 variants establish impaired vesicular transport as a cause for
            muscular dystrophy with epilepsy
  JOURNAL   EMBO Mol Med 13 (12), e13787 (2021)
   PUBMED   34779586
REFERENCE   5  (bases 1 to 3839)
  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   6  (bases 1 to 3839)
  AUTHORS   Xu,D., Joglekar,A.P., Williams,A.L. and Hay,J.C.
  TITLE     Subunit structure of a mammalian ER/Golgi SNARE complex
  JOURNAL   J Biol Chem 275 (50), 39631-39639 (2000)
   PUBMED   11035026
REFERENCE   7  (bases 1 to 3839)
  AUTHORS   Bui,T.D., Levy,E.R., Subramaniam,V.N., Lowe,S.L. and Hong,W.
  TITLE     cDNA characterization and chromosomal mapping of human golgi SNARE
            GS27 and GS28 to chromosome 17
  JOURNAL   Genomics 57 (2), 285-288 (1999)
   PUBMED   10198168
REFERENCE   8  (bases 1 to 3839)
  AUTHORS   Hay,J.C., Klumperman,J., Oorschot,V., Steegmaier,M., Kuo,C.S. and
            Scheller,R.H.
  TITLE     Localization, dynamics, and protein interactions reveal distinct
            roles for ER and Golgi SNAREs
  JOURNAL   J Cell Biol 141 (7), 1489-1502 (1998)
   PUBMED   9647643
  REMARK    Erratum:[J Cell Biol 1998 Aug 10;142(3):following 881]
REFERENCE   9  (bases 1 to 3839)
  AUTHORS   Lowe,S.L., Peter,F., Subramaniam,V.N., Wong,S.H. and Hong,W.
  TITLE     A SNARE involved in protein transport through the Golgi apparatus
  JOURNAL   Nature 389 (6653), 881-884 (1997)
   PUBMED   9349823
REFERENCE   10 (bases 1 to 3839)
  AUTHORS   Hay,J.C., Chao,D.S., Kuo,C.S. and Scheller,R.H.
  TITLE     Protein interactions regulating vesicle transport between the
            endoplasmic reticulum and Golgi apparatus in mammalian cells
  JOURNAL   Cell 89 (1), 149-158 (1997)
   PUBMED   9094723
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005670.1, AI129639.1,
            BM353858.1 and AA775225.1.
            
            On Aug 14, 2020 this sequence version replaced NM_001321134.1.
            
            Summary: This gene encodes a trafficking membrane protein which
            transports proteins among the medial- and trans-Golgi compartments.
            Due to its chromosomal location and trafficking function, this gene
            may be involved in familial essential hypertension. [provided by
            RefSeq, Mar 2016].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR14038195.1119154.1,
                                           SRR14372080.3531044.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-110               AC005670.1         29167-29276
            111-140             AC005670.1         35527-35556
            141-816             AI129639.1         11-686              c
            817-3003            AC005670.1         45005-47191
            3004-3486           BM353858.1         1-483
            3487-3839           AA775225.1         14-366              c
FEATURES             Location/Qualifiers
     source          1..3839
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.32"
     gene            1..3839
                     /gene="GOSR2"
                     /gene_synonym="Bos1; EPM6; GS27; MYOS"
                     /note="golgi SNAP receptor complex member 2"
                     /db_xref="GeneID:9570"
                     /db_xref="HGNC:HGNC:4431"
                     /db_xref="MIM:604027"
     exon            1..110
                     /gene="GOSR2"
                     /gene_synonym="Bos1; EPM6; GS27; MYOS"
                     /inference="alignment:Splign:2.1.0"
     exon            111..175
                     /gene="GOSR2"
                     /gene_synonym="Bos1; EPM6; GS27; MYOS"
                     /inference="alignment:Splign:2.1.0"
     CDS             136..579
                     /gene="GOSR2"
                     /gene_synonym="Bos1; EPM6; GS27; MYOS"
                     /note="isoform E is encoded by transcript variant E;
                     membrin; 27 kDa Golgi SNARE protein"
                     /codon_start=1
                     /product="Golgi SNAP receptor complex member 2 isoform E"
                     /protein_id="NP_001308063.1"
                     /db_xref="CCDS:CCDS86613.1"
                     /db_xref="GeneID:9570"
                     /db_xref="HGNC:HGNC:4431"
                     /db_xref="MIM:604027"
                     /translation="MGRLETADKQSVHIVENEIQASIDQIFSRLERLEILSSKEPPNK
                     RQNARLRVDQLKYDVQHLQTALRNFQHRRHAREQQERQREELLSRTFTTNGTQKKILD
                     IANMLGLSNTVMRLIEKRAFQDKYFMIGGMLLTCVVMFLVVQYLT"
     exon            176..284
                     /gene="GOSR2"
                     /gene_synonym="Bos1; EPM6; GS27; MYOS"
                     /inference="alignment:Splign:2.1.0"
     exon            285..417
                     /gene="GOSR2"
                     /gene_synonym="Bos1; EPM6; GS27; MYOS"
                     /inference="alignment:Splign:2.1.0"
     exon            418..3839
                     /gene="GOSR2"
                     /gene_synonym="Bos1; EPM6; GS27; MYOS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3814..3819
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GOSR2"
                     /gene_synonym="Bos1; EPM6; GS27; MYOS"
                     /note="hexamer: AATAAA"
     polyA_site      3839
                     /gene="GOSR2"
                     /gene_synonym="Bos1; EPM6; GS27; MYOS"
                     /note="major polyA site"
ORIGIN      
        1 agagccggag ccgtggcctg cggggccggc gacatggatc ccctgttcca gcaaacgcac
       61 aagtgagggc cggtcgggga gcgggcaggg gctagacgag gcgaggccag gcaggtccac
      121 gagatccagt cttgcatggg acgcctggag acggcagaca agcagtctgt gcacatagta
      181 gaaaacgaaa tccaagcaag catagaccag atattcagcc gtctagaacg tctggagatt
      241 ttgtccagca aggagccccc taacaaaagg caaaatgcca gacttcgggt tgaccagtta
      301 aagtatgatg tccagcacct gcagactgcg ctcagaaact tccagcatcg gcgccatgca
      361 agggagcagc aggagagaca gcgagaagag cttctgtctc gaaccttcac cactaacggg
      421 actcagaaga agatccttga cattgccaac atgctgggct tgtccaacac agtgatgcgg
      481 ctcatcgaga agcgggcttt ccaggacaag tactttatga taggtgggat gctgctgacc
      541 tgtgtggtca tgttcctcgt ggtgcagtac ctgacatgag ccagccacgc tcagtggctg
      601 aacagcattc ccacagcctg caagtgtgtg tgtgtgtgaa agagagaggg gggcccagag
      661 gccgcctttt gaaatgtttg cctgtctgaa ctgtgaagac acttgggagt gattgtggtc
      721 taatttccaa cctgctctgt tttctgtgac atcttggagg gggagctagt gccaccacca
      781 tgcgcggtgc ttaggaaatg aaagaagtcc cgggtctgtc tctctcactc tcgctctcac
      841 tgggggaggg aaagaatggc tttggtggct ttgttcacat agctgatgcg tgccctggga
      901 aggtgtccac agtgagccct gtgtgcagga ctgtccacac ggttcacacc ttgtcaccat
      961 caggcctttc tggctcctga tagggtggag caaaagtgga aaggaaagga aagaggcctt
     1021 ttctcacagc cattatatta aatagtaggt cgattcacat cctcgtgctc ctggccaccc
     1081 tcccctgtgc ctcagtgaca tgtagatgac tgactgccaa tacttgtcac cattccctgg
     1141 aagcagctac ctaggggaaa caagatgtag tgctattgcc gataacaagt aagattttcc
     1201 acactacagc tgggtgtttc tcttttctaa agtgaggcca gtgttatttc ccgggagtgt
     1261 tcagtcttga ccctagtcac tgattttttc tagttgttaa tagagtggtt ggcttttaag
     1321 gttcagagac tgtggcttgg cacctgcgcc caggctttgt gggcctttgc cccttagaaa
     1381 gtagctgtag gcaaagattt gtgattttcc aattacagtc tcagctctag ttttagtatc
     1441 tctaattctt tggttccctt ctcttccctg aaatatatta gcacctgcca gccaggccct
     1501 cattttgccc agccagtgtg ggcagatccc accgtggaga catctgtagt gtgtatgtcc
     1561 ttgtaacact ctgttttcag ggactacaac ctttttcctt ctgtgaccag ccccggattc
     1621 aggctgtact aataccaggt atattgtgga atttagtata aaggccaatc tgtcctgaag
     1681 tccatctaat gtggtgaatc actgaaagtc tcagaaagac ctggttagtg tatgttctca
     1741 tttaccacag gcctaccagc cctgggcaca gcagcttcat ggcaagacat aaaatgacac
     1801 tcaaaatcct tcagatctgg aaaccggctc agtattaacc ctacctttgg ttgtcctgcc
     1861 ctacctgctc tgttagtttc ttgttgcttg aactgtcttc tgtcttattt cccttccttt
     1921 ctgtgttcct cttcacctct cttgttcccc tccccgctgc tctgtagtca tgttggtcct
     1981 ttcaggcacc tctgtggcat agctcccctt tggtaagttt tcttaattgt catagattaa
     2041 ctgagtttcc tggatgctaa tttcacactt tcggttggag gagatctcca ttgttcctac
     2101 ccctccgggc caaatgggcc ccaggtttcc aaggaaggag caatctgtga ctcctaaaat
     2161 gggttggggc cctgccagag ttaaagcagt gactggaggg tggactgggg ggttgcagca
     2221 tctttagacc tagatctgtc taactctggg gaggcacatt gacatttcca ttacacacag
     2281 cactgctgcg gtgccaggga cctagcgcag gacttttggt aatccataaa atggattctg
     2341 agactgcgac ggcaaggctg tcctgtcccc caggcaccca aggatcctgc cagacagcac
     2401 actttggagg aaggtctgca gggagcagct gagccatttg ttcttgaact ctgggaggca
     2461 gaagtccccg cacccatcat gcgtggactg ataggacatc ttttcgtggt gtgcaccagt
     2521 gctttccaca cttgacagtg gttggctttg atgaaccctc atgctgcacc ttcagagcca
     2581 gtcctctagt ttggaataaa aattgcagag gtggtttttg ggtctttacc acctgcggct
     2641 ggtggacagc agccagtgtg tctggacacc caggggcatt gagactgcat gttgtcacat
     2701 gaccacttct cttcacacat ctgctttcag tgcctggtga aaaatagacc ttggcctaac
     2761 agtgtgactc tctccaccgc ctcagtgtag ggaagggtcc aggccaggga aggagcaccc
     2821 tctagtggag gcgggggtga attcttaggt cgagctgatg caagaaactc cggtagccag
     2881 cctctgtgac cttgtacatg agtttggtgt gcctattgtg atttaaaaca ggtgggttat
     2941 caagaggaac ttgagatctc tttattacat ggacatttac ttcaggggga ccactgtaag
     3001 aaaagccaaa ctccaagacc aagtaagtta gaggagtctt gattttttag acttcactgc
     3061 ggagttctgt acaccctttg ccctgatgaa tttgaatggg tttgatttgc aaatttggat
     3121 ttacacccat tgttttggaa gcacatcagc tgaataaagt tgaggtttat tttatttaga
     3181 aaatcacatt ttgtaaaaga attcgatatt catttttata actaatggcc cccttttttt
     3241 atgtttctag gccagagatt ctcaaacact gctccatggc caggggctgg gctggctgct
     3301 tcagaagcag tggggaagct ttttaaaatt acatattcct ggggcctacc ccagatctga
     3361 attagaacct tttttaaatc tctaaggtga ttttatttta ttttttattt ttgagacagt
     3421 ctcgctctgt cacccaggct ggagtgcagt ggcgcaatct tggctcactg catcctctgc
     3481 ctcctgggtt caggtgatcc tcatacctca gcctcctgag tagctggaac tacaagtgtg
     3541 tgccaccatg tctggctaat tttttttttt tttttgtatt ttttagtaga gacagggttt
     3601 tactatgttg accagattgg tcttaaactc ctggcctcaa gtgatctgcc tgcttcggcc
     3661 tcccaaagtt ctagggttac aggtgttagc cactgtacct ggcctctaag gtgattctga
     3721 tgtgtgtatt ttggaaccac tgtctcctag acagaaagct tctgtctcaa agatgatcac
     3781 attggtgtaa agagcaaaac ttgttaagtc caaaataaat tcttactgtt tatatccta
//
