LOCUS       NM_006178               3983 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens N-ethylmaleimide sensitive factor, vesicle fusing
            ATPase (NSF), transcript variant 1, mRNA.
ACCESSION   NM_006178 XM_938198
VERSION     NM_006178.4
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 3983)
  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   2  (bases 1 to 3983)
  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   3  (bases 1 to 3983)
  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   4  (bases 1 to 3983)
  AUTHORS   Suzuki,H., Yoshida,T., Morisada,N., Uehara,T., Kosaki,K., Sato,K.,
            Matsubara,K., Takano-Shimizu,T. and Takenouchi,T.
  TITLE     De novo NSF mutations cause early infantile epileptic
            encephalopathy
  JOURNAL   Ann Clin Transl Neurol 6 (11), 2334-2339 (2019)
   PUBMED   31675180
  REMARK    GeneRIF: De novo NSF mutations cause early infantile epileptic
            encephalopathy.
REFERENCE   5  (bases 1 to 3983)
  AUTHORS   Hubel,P., Urban,C., Bergant,V., Schneider,W.M., Knauer,B.,
            Stukalov,A., Scaturro,P., Mann,A., Brunotte,L., Hoffmann,H.H.,
            Schoggins,J.W., Schwemmle,M., Mann,M., Rice,C.M. and Pichlmair,A.
  TITLE     A protein-interaction network of interferon-stimulated genes
            extends the innate immune system landscape
  JOURNAL   Nat Immunol 20 (4), 493-502 (2019)
   PUBMED   30833792
REFERENCE   6  (bases 1 to 3983)
  AUTHORS   Nagahama,M., Orci,L., Ravazzola,M., Amherdt,M., Lacomis,L.,
            Tempst,P., Rothman,J.E. and Sollner,T.H.
  TITLE     A v-SNARE implicated in intra-Golgi transport
  JOURNAL   J Cell Biol 133 (3), 507-516 (1996)
   PUBMED   8636227
REFERENCE   7  (bases 1 to 3983)
  AUTHORS   Hanson,P.I., Otto,H., Barton,N. and Jahn,R.
  TITLE     The N-ethylmaleimide-sensitive fusion protein and alpha-SNAP induce
            a conformational change in syntaxin
  JOURNAL   J Biol Chem 270 (28), 16955-16961 (1995)
   PUBMED   7622514
REFERENCE   8  (bases 1 to 3983)
  AUTHORS   Whiteheart,S.W., Rossnagel,K., Buhrow,S.A., Brunner,M., Jaenicke,R.
            and Rothman,J.E.
  TITLE     N-ethylmaleimide-sensitive fusion protein: a trimeric ATPase whose
            hydrolysis of ATP is required for membrane fusion
  JOURNAL   J Cell Biol 126 (4), 945-954 (1994)
   PUBMED   8051214
REFERENCE   9  (bases 1 to 3983)
  AUTHORS   Puschel,A.W., O'Connor,V. and Betz,H.
  TITLE     The N-ethylmaleimide-sensitive fusion protein (NSF) is
            preferentially expressed in the nervous system
  JOURNAL   FEBS Lett 347 (1), 55-58 (1994)
   PUBMED   8013662
REFERENCE   10 (bases 1 to 3983)
  AUTHORS   Wilson,D.W., Whiteheart,S.W., Wiedmann,M., Brunner,M. and
            Rothman,J.E.
  TITLE     A multisubunit particle implicated in membrane fusion
  JOURNAL   J Cell Biol 117 (3), 531-538 (1992)
   PUBMED   1315316
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB460965.1, AK226078.1 and BC030613.2.
            
            On May 17, 2019 this sequence version replaced NM_006178.3.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the protein.
            
            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 :: BC030613.2, SRR1660805.206957.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000398238.8/ ENSP00000381293.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-73                DB460965.1         1-73
            74-2392             AK226078.1         1-2319
            2393-3983           BC030613.2         2324-3914
FEATURES             Location/Qualifiers
     source          1..3983
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     gene            1..3983
                     /gene="NSF"
                     /gene_synonym="DEE96; SEC18; SKD2"
                     /note="N-ethylmaleimide sensitive factor, vesicle fusing
                     ATPase"
                     /db_xref="GeneID:4905"
                     /db_xref="HGNC:HGNC:8016"
                     /db_xref="MIM:601633"
     exon            1..119
                     /gene="NSF"
                     /gene_synonym="DEE96; SEC18; SKD2"
                     /inference="alignment:Splign:2.1.0"
     CDS             108..2342
                     /gene="NSF"
                     /gene_synonym="DEE96; SEC18; SKD2"
                     /EC_number="3.6.4.6"
                     /note="NEM-sensitive fusion protein; vesicular-fusion
                     protein NSF; N-ethylmaleimide-sensitive factor-like
                     protein; N-ethylmaleimide-sensitive fusion protein;
                     epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="vesicle-fusing ATPase"
                     /protein_id="NP_006169.2"
                     /db_xref="CCDS:CCDS42354.1"
                     /db_xref="GeneID:4905"
                     /db_xref="HGNC:HGNC:8016"
                     /db_xref="MIM:601633"
                     /translation="MAGRSMQAARCPTDELSLTNCAVVNEKDFQSGQHVIVRTSPNHR
                     YTFTLKTHPSVVPGSIAFSLPQRKWAGLSIGQEIEVSLYTFDKAKQCIGTMTIEIDFL
                     QKKSIDSNPYDTDKMAAEFIQQFNNQAFSVGQQLVFSFNEKLFGLLVKDIEAMDPSIL
                     KGEPATGKRQKIEVGLVVGNSQVAFEKAENSSLNLIGKAKTKENRQSIINPDWNFEKM
                     GIGGLDKEFSDIFRRAFASRVFPPEIVEQMGCKHVKGILLYGPPGCGKTLLARQIGKM
                     LNAREPKVVNGPEILNKYVGESEANIRKLFADAEEEQRRLGANSGLHIIIFDEIDAIC
                     KQRGSMAGSTGVHDTVVNQLLSKIDGVEQLNNILVIGMTNRPDLIDEALLRPGRLEVK
                     MEIGLPDEKGRLQILHIHTARMRGHQLLSADVDIKELAVETKNFSGAELEGLVRAAQS
                     TAMNRHIKASTKVEVDMEKAESLQVTRGDFLASLENDIKPAFGTNQEDYASYIMNGII
                     KWGDPVTRVLDDGELLVQQTKNSDRTPLVSVLLEGPPHSGKTALAAKIAEESNFPFIK
                     ICSPDKMIGFSETAKCQAMKKIFDDAYKSQLSCVVVDDIERLLDYVPIGPRFSNLVLQ
                     ALLVLLKKAPPQGRKLLIIGTTSRKDVLQEMEMLNAFSTTIHVPNIATGEQLLEALEL
                     LGNFKDKERTTIAQQVKGKKVWIGIKKLLMLIEMSLQMDPEYRVRKFLALLREEGASP
                     LDFD"
     exon            120..205
                     /gene="NSF"
                     /gene_synonym="DEE96; SEC18; SKD2"
                     /inference="alignment:Splign:2.1.0"
     exon            206..305
                     /gene="NSF"
                     /gene_synonym="DEE96; SEC18; SKD2"
                     /inference="alignment:Splign:2.1.0"
     exon            306..345
                     /gene="NSF"
                     /gene_synonym="DEE96; SEC18; SKD2"
                     /inference="alignment:Splign:2.1.0"
     exon            346..512
                     /gene="NSF"
                     /gene_synonym="DEE96; SEC18; SKD2"
                     /inference="alignment:Splign:2.1.0"
     exon            513..620
                     /gene="NSF"
                     /gene_synonym="DEE96; SEC18; SKD2"
                     /inference="alignment:Splign:2.1.0"
     exon            621..696
                     /gene="NSF"
                     /gene_synonym="DEE96; SEC18; SKD2"
                     /inference="alignment:Splign:2.1.0"
     exon            697..852
                     /gene="NSF"
                     /gene_synonym="DEE96; SEC18; SKD2"
                     /inference="alignment:Splign:2.1.0"
     exon            853..1052
                     /gene="NSF"
                     /gene_synonym="DEE96; SEC18; SKD2"
                     /inference="alignment:Splign:2.1.0"
     exon            1053..1218
                     /gene="NSF"
                     /gene_synonym="DEE96; SEC18; SKD2"
                     /inference="alignment:Splign:2.1.0"
     exon            1219..1293
                     /gene="NSF"
                     /gene_synonym="DEE96; SEC18; SKD2"
                     /inference="alignment:Splign:2.1.0"
     exon            1294..1481
                     /gene="NSF"
                     /gene_synonym="DEE96; SEC18; SKD2"
                     /inference="alignment:Splign:2.1.0"
     exon            1482..1577
                     /gene="NSF"
                     /gene_synonym="DEE96; SEC18; SKD2"
                     /inference="alignment:Splign:2.1.0"
     exon            1578..1734
                     /gene="NSF"
                     /gene_synonym="DEE96; SEC18; SKD2"
                     /inference="alignment:Splign:2.1.0"
     exon            1735..1868
                     /gene="NSF"
                     /gene_synonym="DEE96; SEC18; SKD2"
                     /inference="alignment:Splign:2.1.0"
     exon            1869..1935
                     /gene="NSF"
                     /gene_synonym="DEE96; SEC18; SKD2"
                     /inference="alignment:Splign:2.1.0"
     exon            1936..2015
                     /gene="NSF"
                     /gene_synonym="DEE96; SEC18; SKD2"
                     /inference="alignment:Splign:2.1.0"
     exon            2016..2150
                     /gene="NSF"
                     /gene_synonym="DEE96; SEC18; SKD2"
                     /inference="alignment:Splign:2.1.0"
     exon            2151..2264
                     /gene="NSF"
                     /gene_synonym="DEE96; SEC18; SKD2"
                     /inference="alignment:Splign:2.1.0"
     exon            2265..2320
                     /gene="NSF"
                     /gene_synonym="DEE96; SEC18; SKD2"
                     /inference="alignment:Splign:2.1.0"
     exon            2321..3983
                     /gene="NSF"
                     /gene_synonym="DEE96; SEC18; SKD2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3966..3971
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NSF"
                     /gene_synonym="DEE96; SEC18; SKD2"
                     /note="hexamer: AGTAAA"
     polyA_site      3983
                     /gene="NSF"
                     /gene_synonym="DEE96; SEC18; SKD2"
                     /note="major polyA site"
ORIGIN      
        1 ggcggttgca cgcctgcgcg agggcgggcg gcgggggcgc gcgcgcggcg ggggcgggct
       61 ttgccgagcg cagagctgca gccgccgagc cggacgtgtc cgcgaagatg gcgggccgga
      121 gcatgcaagc ggcaagatgt cctacagatg aattatcttt aaccaattgt gcagttgtga
      181 atgaaaagga tttccagtct ggccagcatg tgattgtgag gacctctccc aatcacaggt
      241 acacatttac actgaagaca catccatcgg tggttccagg gagcattgca ttcagtttac
      301 ctcagagaaa atgggctggg ctttctattg ggcaagaaat agaagtctcc ttatatacat
      361 ttgacaaagc caaacagtgt attggcacaa tgaccatcga gattgatttc ctgcagaaaa
      421 aaagcattga ctccaaccct tatgacaccg acaagatggc agcagaattt attcagcaat
      481 tcaacaacca ggccttctca gtgggacaac agcttgtctt tagcttcaat gaaaagcttt
      541 ttggcttact ggtgaaggac attgaagcca tggatcctag catcctgaag ggagagcctg
      601 cgacagggaa aaggcagaag attgaagtag gactggttgt tggaaacagt caagttgcat
      661 ttgaaaaagc agaaaattcg tcacttaatc ttattggcaa agctaaaacc aaggaaaatc
      721 gccaatcaat tatcaatcct gactggaact ttgaaaaaat gggaatagga ggtctagaca
      781 aggaattttc agatattttc cgacgagcat ttgcttcccg agtatttcct ccagagattg
      841 tggagcagat gggttgtaaa catgttaaag gcatcctgtt atatggaccc ccaggttgtg
      901 gtaagactct cttggctcga cagattggca agatgttgaa tgcaagagag cccaaagtgg
      961 tcaatgggcc agaaatcctt aacaaatatg tgggagaatc agaggctaac attcgcaaac
     1021 tttttgctga tgctgaagag gagcaaagga ggcttggtgc taacagtggt ttgcacatca
     1081 tcatctttga tgaaattgat gccatctgca agcagagagg gagcatggct ggtagcacgg
     1141 gagttcatga cactgttgtc aaccagttgc tgtccaaaat tgatggcgtg gagcagctaa
     1201 acaacatcct agtcattgga atgaccaata gaccagatct gatagatgag gctcttctta
     1261 gacctggaag actggaagtt aaaatggaga taggcttgcc agatgagaaa ggccgactac
     1321 agattcttca catccacaca gcaagaatga gagggcatca gttactctct gctgatgtag
     1381 acattaaaga actggccgtg gagaccaaga atttcagtgg tgctgaattg gagggtctgg
     1441 tgcgagcagc ccagtccact gctatgaata gacacataaa ggccagtact aaagtggaag
     1501 tggacatgga gaaagcagaa agcctgcaag tgacgagagg agacttcctt gcttctttgg
     1561 agaatgatat caaaccagcc tttggcacaa accaagaaga ttatgcaagt tacattatga
     1621 acggtatcat caaatggggt gacccagtta ctcgagttct agatgatggg gagctgctgg
     1681 tgcagcagac taagaacagt gaccgcacac cattggtcag cgtgcttctg gaaggccctc
     1741 ctcacagtgg gaagactgct ttagctgcaa aaattgcaga ggaatccaac ttcccgttca
     1801 tcaagatctg ttctcctgat aaaatgattg gcttttctga aacagccaaa tgtcaggcca
     1861 tgaagaagat ctttgatgat gcgtacaaat cccagctcag ttgtgtggtt gtggatgaca
     1921 ttgagagatt gcttgattac gtccctattg gccctcgatt ttcaaatctt gtattacagg
     1981 ctcttctcgt tttactgaaa aaggcacctc ctcagggccg caagcttctt atcattggga
     2041 ccactagccg caaagatgtc cttcaggaga tggaaatgct taacgctttc agcaccacca
     2101 tccacgtgcc caacattgcc acaggagagc agctgttgga agctttggag cttttgggca
     2161 acttcaagga taaggaacgc accacaattg cacagcaagt caaagggaag aaggtctgga
     2221 taggaatcaa gaagttacta atgctgatcg agatgtccct acagatggat cctgaatacc
     2281 gtgtgagaaa attcttggcc ctcttaagag aagaaggagc tagccccctt gattttgatt
     2341 gaaaatgaac tatttgaaac acacagtgac caagggaagt gaccaaggtg aagatggcct
     2401 aggatcttca ctgtcttact caagatactg gactaagtgg aacgttctct accttcaaca
     2461 tgtgctcgct ctgcatgatt agtgcaataa aactcccttc cttatgcata ctgagatagc
     2521 ttagtgtctc gtggaaggtg tcaatttggt ttagaatgct gcgcttacct tcccatgcag
     2581 gctaaagtga ttccttcttg ctcagtccct ctgggtggga accatccagt acttgtggac
     2641 actacacgtt tcaacctctc tactagcacc atcacccttg aaaactctca gtcagtgtca
     2701 tgaatgttgc atgacaacag ttggccgatt agaaggcaga ctttctacat gcaaatctgg
     2761 cttagtaaat cgaggtgtgg gccagagatc ctctgacagc tgtcctgagc taacactaaa
     2821 agtcactggg tatttggtta aaggtctccc acaagactgg tattctcttt gcctgaagaa
     2881 acaaggcatt gaatctctaa aatgctgttc tcaatcattg tcagagatgt tttcaagttg
     2941 cagtcagaag atctttctta atagaaagtc agatgactac cgtgttggtt gtgacttccc
     3001 cttaagtata actaatttgc tctgtggtaa gagatatgct cattattacc acttagaaga
     3061 tgttgttaaa aacatgtgaa agataggtat ggaaaaagca tacaccccca aacagaaagg
     3121 agttattaaa gtaatttaca aacctctcag cactaattag tgtccaactc caagtgggtc
     3181 aattccttag tataatatta aggcttacta gtatcactgc tttttcctta gcttaatgac
     3241 ttacttagaa tttatccttt attttaaatg atctgtacta tctagtgtct aaaacactat
     3301 tctccagaaa aatcaatcat tttctagccc tctccctcag tcctttattg tccattccaa
     3361 tacattgaac acatttcctt taccctccac acacttcttc caaaaggaag cacccgttga
     3421 gtccttttga gggtgatttg tcttacaact gactgactta gcaggaattt aattaggtca
     3481 tatttggtga tgagacttat ggagtgtgcc tctctctccc aactgctgct taaaatgcaa
     3541 ggacaagcaa ttagaagcca tcctaaggtg cttacctcac acgccaccca tgaggcttgt
     3601 ggccacagtg gcacttgggt gtggctcctc tgttatttgt cctcatgtga gaaagcagat
     3661 catctccaaa tcttgccatt tgtatacttt tggtggagac ttggatgtca tatcttcttt
     3721 gttttgggtt ttcttcccta gcttattttg tggcttttaa agaagtggat tgtattgtga
     3781 gatcctgtga ttcctggtgg ccagtatcct ggattcctct aagatcttgc ctctttcctc
     3841 ctcatgaaag cagcacacat tgtgttaact tatgtctctt gttaaatgag cttaatgtct
     3901 ttgtgttttg tccaaaactg tattgaaaaa atattgttta atgcaaatga aggaatgcaa
     3961 taaagagtaa atatacttga aaa
//
