LOCUS       NM_022080               3837 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens NSF attachment protein beta (NAPB), transcript variant
            2, mRNA.
ACCESSION   NM_022080 XM_371393
VERSION     NM_022080.3
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 3837)
  AUTHORS   Mignon-Ravix,C., Riccardi,F., Daquin,G., Cacciagli,P.,
            Lamoureux-Toth,S., Villard,L., Villeneuve,N. and Molinari,F.
  TITLE     NAPB and developmental and epileptic encephalopathy: Description of
            the electroclinical profile associated with a novel pathogenic
            variant
  JOURNAL   Epilepsia 64 (6), e127-e134 (2023)
   PUBMED   37014259
  REMARK    GeneRIF: NAPB and developmental and epileptic encephalopathy:
            Description of the electroclinical profile associated with a novel
            pathogenic variant.
REFERENCE   2  (bases 1 to 3837)
  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 3837)
  AUTHORS   Zhao,X., Wang,Y., Cai,A., Mei,S., Liu,N. and Kong,X.
  TITLE     A novel NAPB splicing mutation identified by Trio-based exome
            sequencing is associated with early-onset epileptic encephalopathy
  JOURNAL   Eur J Med Genet 64 (1), 104101 (2021)
   PUBMED   33189936
  REMARK    GeneRIF: A novel NAPB splicing mutation identified by Trio-based
            exome sequencing is associated with early-onset epileptic
            encephalopathy.
REFERENCE   4  (bases 1 to 3837)
  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   5  (bases 1 to 3837)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3837)
  AUTHORS   Yu,H., Tardivo,L., Tam,S., Weiner,E., Gebreab,F., Fan,C.,
            Svrzikapa,N., Hirozane-Kishikawa,T., Rietman,E., Yang,X.,
            Sahalie,J., Salehi-Ashtiani,K., Hao,T., Cusick,M.E., Hill,D.E.,
            Roth,F.P., Braun,P. and Vidal,M.
  TITLE     Next-generation sequencing to generate interactome datasets
  JOURNAL   Nat Methods 8 (6), 478-480 (2011)
   PUBMED   21516116
REFERENCE   7  (bases 1 to 3837)
  AUTHORS   Prekeris,R., Klumperman,J., Chen,Y.A. and Scheller,R.H.
  TITLE     Syntaxin 13 mediates cycling of plasma membrane proteins via
            tubulovesicular recycling endosomes
  JOURNAL   J Cell Biol 143 (4), 957-971 (1998)
   PUBMED   9817754
REFERENCE   8  (bases 1 to 3837)
  AUTHORS   Osten,P., Srivastava,S., Inman,G.J., Vilim,F.S., Khatri,L.,
            Lee,L.M., States,B.A., Einheber,S., Milner,T.A., Hanson,P.I. and
            Ziff,E.B.
  TITLE     The AMPA receptor GluR2 C terminus can mediate a reversible,
            ATP-dependent interaction with NSF and alpha- and beta-SNAPs
  JOURNAL   Neuron 21 (1), 99-110 (1998)
   PUBMED   9697855
REFERENCE   9  (bases 1 to 3837)
  AUTHORS   Whiteheart,S.W., Griff,I.C., Brunner,M., Clary,D.O., Mayer,T.,
            Buhrow,S.A. and Rothman,J.E.
  TITLE     SNAP family of NSF attachment proteins includes a brain-specific
            isoform
  JOURNAL   Nature 362 (6418), 353-355 (1993)
   PUBMED   8455721
REFERENCE   10 (bases 1 to 3837)
  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     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC335439.1, BC060840.1,
            AK125811.1 and AI285959.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 27, 2020 this sequence version replaced NM_022080.2.
            
            Summary: This gene encodes a member of the soluble
            N-ethyl-maleimide-sensitive fusion attachment protein (SNAP)
            family. SNAP proteins play a critical role in the docking and
            fusion of vesicles to target membranes as part of the 20S
            NSF-SNAP-SNARE complex. This gene encodes the SNAP beta isoform
            which has been shown to be preferentially expressed in brain
            tissue. The encoded protein also interacts with the GluR2
            alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionate (AMPA)
            receptor subunit C-terminus and may play a role as a chaperone in
            the molecular processing of the AMPA receptor. [provided by RefSeq,
            Mar 2017].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the 5' coding region, compared to variant 1,
            resulting in an isoform (b) that is shorter than isoform a.
            
            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 :: SRR14038196.2232025.1, BC060840.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000377026.4/ ENSP00000366225.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-44                DC335439.1         32-75
            45-1242             BC060840.1         1-1198
            1243-3572           AK125811.1         2133-4462
            3573-3837           AI285959.1         4-268               c
FEATURES             Location/Qualifiers
     source          1..3837
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p11.21"
     gene            1..3837
                     /gene="NAPB"
                     /gene_synonym="DEE107; SNAP-BETA; SNAPB"
                     /note="NSF attachment protein beta"
                     /db_xref="GeneID:63908"
                     /db_xref="HGNC:HGNC:15751"
                     /db_xref="MIM:611270"
     exon            1..184
                     /gene="NAPB"
                     /gene_synonym="DEE107; SNAP-BETA; SNAPB"
                     /inference="alignment:Splign:2.1.0"
     CDS             87..983
                     /gene="NAPB"
                     /gene_synonym="DEE107; SNAP-BETA; SNAPB"
                     /note="isoform b is encoded by transcript variant 2;
                     beta-soluble NSF attachment protein;
                     N-ethylmaleimide-sensitive factor attachment protein,
                     beta"
                     /codon_start=1
                     /product="beta-soluble NSF attachment protein isoform b"
                     /protein_id="NP_071363.1"
                     /db_xref="CCDS:CCDS13152.1"
                     /db_xref="GeneID:63908"
                     /db_xref="HGNC:HGNC:15751"
                     /db_xref="MIM:611270"
                     /translation="MDNAGKEREAVQLMAEAEKRVKASHSFLRGLFGGNTRIEEACEM
                     YTRAANMFKMAKNWSAAGNAFCQAAKLHMQLQSKHDSATSFVDAGNAYKKADPQEAIN
                     CLNAAIDIYTDMGRFTIAAKHHITIAEIYETELVDIEKAIAHYEQSADYYKGEESNSS
                     ANKCLLKVAAYAAQLEQYQKAIEIYEQVGANTMDNPLLKYSAKDYFFKAALCHFIVDE
                     LNAKLALEKYEEMFPAFTDSRECKLLKKLLEAHEEQNSEAYTEAVKEFDSISRLDQWL
                     TTMLLRIKKSIQGDGEGDGDLK"
     exon            185..264
                     /gene="NAPB"
                     /gene_synonym="DEE107; SNAP-BETA; SNAPB"
                     /inference="alignment:Splign:2.1.0"
     exon            265..381
                     /gene="NAPB"
                     /gene_synonym="DEE107; SNAP-BETA; SNAPB"
                     /inference="alignment:Splign:2.1.0"
     exon            382..428
                     /gene="NAPB"
                     /gene_synonym="DEE107; SNAP-BETA; SNAPB"
                     /inference="alignment:Splign:2.1.0"
     exon            429..506
                     /gene="NAPB"
                     /gene_synonym="DEE107; SNAP-BETA; SNAPB"
                     /inference="alignment:Splign:2.1.0"
     exon            507..562
                     /gene="NAPB"
                     /gene_synonym="DEE107; SNAP-BETA; SNAPB"
                     /inference="alignment:Splign:2.1.0"
     exon            563..647
                     /gene="NAPB"
                     /gene_synonym="DEE107; SNAP-BETA; SNAPB"
                     /inference="alignment:Splign:2.1.0"
     exon            648..752
                     /gene="NAPB"
                     /gene_synonym="DEE107; SNAP-BETA; SNAPB"
                     /inference="alignment:Splign:2.1.0"
     exon            753..821
                     /gene="NAPB"
                     /gene_synonym="DEE107; SNAP-BETA; SNAPB"
                     /inference="alignment:Splign:2.1.0"
     exon            822..872
                     /gene="NAPB"
                     /gene_synonym="DEE107; SNAP-BETA; SNAPB"
                     /inference="alignment:Splign:2.1.0"
     exon            873..3837
                     /gene="NAPB"
                     /gene_synonym="DEE107; SNAP-BETA; SNAPB"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3814..3819
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NAPB"
                     /gene_synonym="DEE107; SNAP-BETA; SNAPB"
                     /note="hexamer: AATAAA"
     polyA_site      3837
                     /gene="NAPB"
                     /gene_synonym="DEE107; SNAP-BETA; SNAPB"
                     /note="major polyA site"
ORIGIN      
        1 gtccctgcgg ccgccagagg gagggttaag gcgcctgggc gcacagcgag ccggctgagg
       61 gggctgtggc ggccgcggcg ggcgacatgg acaacgcggg gaaggagcgt gaggcagtac
      121 agctgatggc ggaggccgag aagcgagtca aggcctccca ctccttcctc cgagggctgt
      181 ttggaggaaa cacaagaata gaagaggctt gtgaaatgta taccagagct gcaaatatgt
      241 tcaagatggc taaaaattgg agtgctgcag gaaacgcatt ttgtcaggca gccaagctcc
      301 acatgcagct tcagagcaaa catgactctg ctaccagctt tgtggatgct ggaaatgctt
      361 acaaaaaggc agatccccaa gaggctatca actgcttaaa tgcagccatc gacatttaca
      421 cagacatggg aaggtttaca attgcagcca agcaccacat tactattgca gagatctatg
      481 agactgaact tgtagacatt gagaaggcta ttgcacatta tgaacaatct gctgattatt
      541 acaaaggaga agaatccaac agctcagcaa acaagtgtct gctgaaggtg gcagcatatg
      601 ctgcccagct tgagcagtac cagaaagcca ttgagatcta tgagcaggtt ggggcaaaca
      661 caatggataa tcctttgttg aaatacagtg caaaggatta cttcttcaaa gctgccctct
      721 gccacttcat agtagacgag ttgaatgcca agcttgctct tgagaaatat gaggaaatgt
      781 ttccagcatt tactgattca agagaatgta aattattgaa aaaactccta gaagctcatg
      841 aagaacagaa cagtgaagct tacactgaag cagtgaagga atttgactca atatctcgct
      901 tggatcagtg gctgaccacc atgttgcttc gcatcaaaaa gtccatccaa ggggatggag
      961 aaggagatgg agacctaaaa tgaaatgttt ttgtctttgt ggcatgcagc taactcctct
     1021 ttagttttgt cttagggtca agtgatcttt atgggatgcc tatttaatgg cttaattttg
     1081 ttgcatatga gccagacggc ctgtgtattg tttaagctcg ccaagtctgt gttgctgtga
     1141 aatgaatgaa ggagaggctc ctgttcatct tgtggtaatg atgggttgtt tcatgcttat
     1201 cagaaccccc agcgttttct gagaagtact tcagaatctc attcctcata tttcattggt
     1261 atttgtggag cctatgttta atgttgccac gtgtttttat gtcctttttg ttggacttga
     1321 gtactcagcc cagttgttct catagatgct ttgcattttc tctgtgcttt ggcatctgaa
     1381 tatgttcttt aaatgtgtgt ttagtttagg acagttacta ggaatgagtt tataacttca
     1441 ttagaaatca tttctatttt tgttatcctg tgattatttt gatggtgcta gtgactagtt
     1501 tctttgcttt ttgtgttgtt ccgtatgcta acatgtgcat ggcaaaaatt tagaatagcc
     1561 agggtctgta ggcatcacat tgtgaggaag ggagctttct ggaagtactt gcttcatgta
     1621 tggatgagtg tcaaagtgaa tttgatttgt acttagacac acgcgtttac acacacacac
     1681 atatcacaag atctgttaga aatggaattt ttctcttttt ctggagatag ttttcacttt
     1741 tagttggagt ggaaatccct ttatatttac attgaagtat tttaattggc atagcctgct
     1801 cattattttc atgtttatac actttcccac gttgaggtgg tgtgttctgt gctgtgacta
     1861 tagaaatctt ggtcagggct ggatagatta tctaagtcaa gcttgagaat gaatgtatgt
     1921 aattttcctg tttattgtac atgatgggtt aggtggggtg aatgtggtac aggaatgtcc
     1981 tgtatgccca agtgggcaag aaccccaact tgtttctcag gggacttgat tgttctctta
     2041 gctggtggaa tatgttggct tatgtgtttg aactctgtcg tgtttaattg gtttatataa
     2101 tatatgtatg ctatcttgat tcatgaactt gatcctatta atttatatgc tgatattgta
     2161 ctttagacat acgcttgtct cctgaatgtc ctctgaatat ttatagttaa atgatttata
     2221 tttgaaatgt gttgccagac ttaacccagc agacactctg acatcacgga gcttcactga
     2281 tgacaggtaa cgaaacttcc tatgttatgt caggtagtag taagtagtat tggaatgatg
     2341 ttttcatttt tggtggctct caactggaat tggtagtgtt tccaggccaa gggtcgactg
     2401 caggttgttt gagaaatgat gagtaggtca gtctaggaag aaagagaaag tagcaggaaa
     2461 ggaagtggga agggccagcc aaggacagac tgtagaggat ccacatcagg tggccacgag
     2521 gacttgcagg ctatagttat ggtggtgaca tgcatgaggt gggctggtag agcaggaagc
     2581 tctgtgatgt cagagcatct actgggacta caggtgcact gtagtcccca ctactggggg
     2641 tggcaatgaa gacactctgt ctgttgggcc ctagaattta atgtggattt cctccttcct
     2701 tccaagttct gagattctta aatgagagct ggctgtcttc tagaggtaag acctggaatg
     2761 gagtccagtt ggtacttttt cactccctct tagaatctct tatgaaaaaa tgatcagaga
     2821 gaaaagtggg gttttgtttc cccacctaat aatatatcct acaaccagcc aaatgcactt
     2881 ttgtgaaaat ggggtgtgag gagtggttct gcagcttgag tcctctggtt ttaagtagtt
     2941 tgtttctact tgtttaaaga atcttctggt ctgaccactt aaagtaaaaa ctacatgatt
     3001 tattttcggg caattatgtt tagctttcat cattatactc caacagaccc gtctgaaggg
     3061 gtattttttt ttaacaataa tgtttgtaac attttgttgt gtcaattaga gggtcacttg
     3121 tttgtattgc aataaacact gggaccagtt ccggggttaa gaattaattt ttgtttttaa
     3181 tatttcacat gaaaagaatc aaagtaattg taatggctag aagagacctg ccagaagatt
     3241 aaaaaaaaga atgagagaaa agcccagtta gtggtgtgca aacttacttc ctttaaatgt
     3301 cccatggatg taggacagtg ccatgtttca agatgcctgt gagctaggtc ttcaagattt
     3361 atagaatgtt acttatgaac aaaatataat tatttatggt acaattcttg tactttagca
     3421 aatctggagt tagttcatag tcaaagtcag ttaatatttc ttagaggaaa gttttgcttt
     3481 ttgtggcaac atttttatag cttgtgtgag ttctttttta tttaatgatt tgaaagcagt
     3541 atttttgcac agtcgtgacc gtgtgtggtg gcgtcactgt aaccaaagta tatgcaccag
     3601 cccttgtgca tttattgttt ctcctgattt tgtggattta aatgtccaaa tgcaaacctt
     3661 tgtgacttcc tttggaggac ttggcagcac agcatgcccc cgtgacctgc ctgctgtggt
     3721 atgagctatg accaagagca ggcttcctgc tccatggagt cctgagttgc tctggggcag
     3781 gggattacgt tatgaaaact aaccatgtgt aacaataaat ctaccttagc agaaaaa
//
