LOCUS       NM_052874               4674 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens syntaxin 1B (STX1B), mRNA.
ACCESSION   NM_052874 XM_001720609 XM_001720999 XM_001725688
VERSION     NM_052874.5
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 4674)
  AUTHORS   Lee,C.Y., Hubrich,D., Varga,J.K., Schafer,C., Welzel,M.,
            Schumbera,E., Djokic,M., Strom,J.M., Schonfeld,J., Geist,J.L.,
            Polat,F., Gibson,T.J., Keller Valsecchi,C.I., Kumar,M.,
            Schueler-Furman,O. and Luck,K.
  TITLE     Systematic discovery of protein interaction interfaces using
            AlphaFold and experimental validation
  JOURNAL   Mol Syst Biol 20 (2), 75-97 (2024)
   PUBMED   38225382
REFERENCE   2  (bases 1 to 4674)
  AUTHORS   Turkevi-Nagy,S., Bathori,A., Bocz,J., Krenacs,L., Cserni,G. and
            Kovari,B.
  TITLE     Syntaxin-1 and Insulinoma-Associated Protein 1 Expression in Breast
            Neoplasms with Neuroendocrine Features
  JOURNAL   Pathol Oncol Res 27, 1610039 (2021)
   PUBMED   34764822
  REMARK    GeneRIF: Syntaxin-1 and Insulinoma-Associated Protein 1 Expression
            in Breast Neoplasms with Neuroendocrine Features.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4674)
  AUTHORS   Krenn,M., Schloegl,M., Pataraia,E., Gelpi,E., Schroder,S.,
            Rauscher,C., Mayr,J.A., Kotzot,D., Zimprich,F., Meitinger,T. and
            Wagner,M.
  TITLE     Delineation of epileptic and neurodevelopmental phenotypes
            associated with variants in STX1B
  JOURNAL   Seizure 87, 25-29 (2021)
   PUBMED   33677401
  REMARK    GeneRIF: Delineation of epileptic and neurodevelopmental phenotypes
            associated with variants in STX1B.
REFERENCE   4  (bases 1 to 4674)
  AUTHORS   Wang,J.Y., Gong,M.Y., Ye,Y.L., Ye,J.M., Lin,G.L., Zhuang,Q.Q.,
            Zhang,X. and Zhu,J.H.
  TITLE     The RIT2 and STX1B polymorphisms are associated with Parkinson's
            disease
  JOURNAL   Parkinsonism Relat Disord 21 (3), 300-302 (2015)
   PUBMED   25534083
  REMARK    GeneRIF: The data of this study suggested that the STX1B
            polymorphisms are associated with Parkinson disease etiology.
REFERENCE   5  (bases 1 to 4674)
  AUTHORS   Schubert,J., Siekierska,A., Langlois,M., May,P., Huneau,C.,
            Becker,F., Muhle,H., Suls,A., Lemke,J.R., de Kovel,C.G., Thiele,H.,
            Konrad,K., Kawalia,A., Toliat,M.R., Sander,T., Ruschendorf,F.,
            Caliebe,A., Nagel,I., Kohl,B., Kecskes,A., Jacmin,M., Hardies,K.,
            Weckhuysen,S., Riesch,E., Dorn,T., Brilstra,E.H., Baulac,S.,
            Moller,R.S., Hjalgrim,H., Koeleman,B.P., Jurkat-Rott,K.,
            Lehman-Horn,F., Roach,J.C., Glusman,G., Hood,L., Galas,D.J.,
            Martin,B., de Witte,P.A., Biskup,S., De Jonghe,P., Helbig,I.,
            Balling,R., Nurnberg,P., Crawford,A.D., Esguerra,C.V., Weber,Y.G.
            and Lerche,H.
  CONSRTM   EuroEPINOMICS RES Consortium
  TITLE     Mutations in STX1B, encoding a presynaptic protein, cause
            fever-associated epilepsy syndromes
  JOURNAL   Nat Genet 46 (12), 1327-1332 (2014)
   PUBMED   25362483
  REMARK    GeneRIF: STX1B and the presynaptic release machinery may have a
            role in fever-associated epilepsy syndromes
REFERENCE   6  (bases 1 to 4674)
  AUTHORS   Nalls,M.A., Pankratz,N., Lill,C.M., Do,C.B., Hernandez,D.G.,
            Saad,M., DeStefano,A.L., Kara,E., Bras,J., Sharma,M., Schulte,C.,
            Keller,M.F., Arepalli,S., Letson,C., Edsall,C., Stefansson,H.,
            Liu,X., Pliner,H., Lee,J.H., Cheng,R., Ikram,M.A., Ioannidis,J.P.,
            Hadjigeorgiou,G.M., Bis,J.C., Martinez,M., Perlmutter,J.S.,
            Goate,A., Marder,K., Fiske,B., Sutherland,M., Xiromerisiou,G.,
            Myers,R.H., Clark,L.N., Stefansson,K., Hardy,J.A., Heutink,P.,
            Chen,H., Wood,N.W., Houlden,H., Payami,H., Brice,A., Scott,W.K.,
            Gasser,T., Bertram,L., Eriksson,N., Foroud,T. and Singleton,A.B.
  CONSRTM   International Parkinson's Disease Genomics Consortium (IPDGC);
            Parkinson's Study Group (PSG) Parkinson's Research: The Organized
            GENetics Initiative (PROGENI); 23andMe; GenePD; NeuroGenetics
            Research Consortium (NGRC); Hussman Institute of Human Genomics
            (HIHG); Ashkenazi Jewish Dataset Investigator; Cohorts for Health
            and Aging Research in Genetic Epidemiology (CHARGE); North American
            Brain Expression Consortium (NABEC); United Kingdom Brain
            Expression Consortium (UKBEC); Greek Parkinson's Disease
            Consortium; Alzheimer Genetic Analysis Group
  TITLE     Large-scale meta-analysis of genome-wide association data
            identifies six new risk loci for Parkinson's disease
  JOURNAL   Nat Genet 46 (9), 989-993 (2014)
   PUBMED   25064009
REFERENCE   7  (bases 1 to 4674)
  AUTHORS   Martins-de-Souza,D., Guest,P.C., Mann,D.M., Roeber,S., Rahmoune,H.,
            Bauder,C., Kretzschmar,H., Volk,B., Baborie,A. and Bahn,S.
  TITLE     Proteomic analysis identifies dysfunction in cellular transport,
            energy, and protein metabolism in different brain regions of
            atypical frontotemporal lobar degeneration
  JOURNAL   J Proteome Res 11 (4), 2533-2543 (2012)
   PUBMED   22360420
  REMARK    GeneRIF: A protein encoded by this locus was found to be
            differentially expressed in postmortem brains from patients with
            atypical frontotemporal lobar degeneration.
REFERENCE   8  (bases 1 to 4674)
  AUTHORS   Pereira,S., Massacrier,A., Roll,P., Verine,A.,
            Etienne-Grimaldi,M.C., Poitelon,Y., Robaglia-Schlupp,A., Jamali,S.,
            Roeckel-Trevisiol,N., Royer,B., Pontarotti,P., Leveque,C.,
            Seagar,M., Levy,N., Cau,P. and Szepetowski,P.
  TITLE     Nuclear localization of a novel human syntaxin 1B isoform
  JOURNAL   Gene 423 (2), 160-171 (2008)
   PUBMED   18691641
  REMARK    GeneRIF: The STX1B-Delta transmembrane domain is characterized as
            the first nucleoplasmic syntaxin with no transmembrane domain.
REFERENCE   9  (bases 1 to 4674)
  AUTHORS   Smirnova,T., Miniou,P., Viegas-Pequignot,E. and Mallet,J.
  TITLE     Assignment of the human syntaxin 1B gene (STX) to chromosome
            16p11.2 by fluorescence in situ hybridization
  JOURNAL   Genomics 36 (3), 551-553 (1996)
   PUBMED   8884284
REFERENCE   10 (bases 1 to 4674)
  AUTHORS   Kurahashi,H. and Hirose,S.
  TITLE     Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301348
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC135050.3 and AC135048.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_052874.4.
            
            Summary: The protein encoded by this gene belongs to a family of
            proteins thought to play a role in the exocytosis of synaptic
            vesicles. Vesicle exocytosis releases vesicular contents and is
            important to various cellular functions. For instance, the
            secretion of transmitters from neurons plays an important role in
            synaptic transmission. After exocytosis, the membrane and proteins
            from the vesicle are retrieved from the plasma membrane through the
            process of endocytosis. Mutations in this gene have been identified
            as one cause of fever-associated epilepsy syndromes. A possible
            link between this gene and Parkinson's disease has also been
            suggested. [provided by RefSeq, Jan 2015].
            
            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 :: AY028792.1, SRR3476690.311163.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000215095.11/ ENSP00000215095.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-272               AC135050.3         66245-66516         c
            273-347             AC135048.2         5127-5201
            348-447             AC135048.2         5537-5636
            448-522             AC135048.2         5728-5802
            523-596             AC135048.2         9155-9228
            597-705             AC135048.2         9671-9779
            706-779             AC135048.2         9974-10047
            780-917             AC135048.2         13246-13383
            918-1028            AC135048.2         13490-13600
            1029-4674           AC135048.2         13829-17474
FEATURES             Location/Qualifiers
     source          1..4674
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     gene            1..4674
                     /gene="STX1B"
                     /gene_synonym="GEFSP9; STX1B1; STX1B2"
                     /note="syntaxin 1B"
                     /db_xref="GeneID:112755"
                     /db_xref="HGNC:HGNC:18539"
                     /db_xref="MIM:601485"
     exon            1..272
                     /gene="STX1B"
                     /gene_synonym="GEFSP9; STX1B1; STX1B2"
                     /inference="alignment:Splign:2.1.0"
     CDS             243..1109
                     /gene="STX1B"
                     /gene_synonym="GEFSP9; STX1B1; STX1B2"
                     /note="syntaxin-1B1; syntaxin-1B2"
                     /codon_start=1
                     /product="syntaxin-1B"
                     /protein_id="NP_443106.1"
                     /db_xref="CCDS:CCDS10699.1"
                     /db_xref="GeneID:112755"
                     /db_xref="HGNC:HGNC:18539"
                     /db_xref="MIM:601485"
                     /translation="MKDRTQELRSAKDSDDEEEVVHVDRDHFMDEFFEQVEEIRGCIE
                     KLSEDVEQVKKQHSAILAAPNPDEKTKQELEDLTADIKKTANKVRSKLKAIEQSIEQE
                     EGLNRSSADLRIRKTQHSTLSRKFVEVMTEYNATQSKYRDRCKDRIQRQLEITGRTTT
                     NEELEDMLESGKLAIFTDDIKMDSQMTKQALNEIETRHNEIIKLETSIRELHDMFVDM
                     AMLVESQGEMIDRIEYNVEHSVDYVERAVSDTKKAVKYQSKARRKKIMIIICCVVLGV
                     VLASSIGGTLGL"
     exon            273..347
                     /gene="STX1B"
                     /gene_synonym="GEFSP9; STX1B1; STX1B2"
                     /inference="alignment:Splign:2.1.0"
     exon            348..447
                     /gene="STX1B"
                     /gene_synonym="GEFSP9; STX1B1; STX1B2"
                     /inference="alignment:Splign:2.1.0"
     exon            448..522
                     /gene="STX1B"
                     /gene_synonym="GEFSP9; STX1B1; STX1B2"
                     /inference="alignment:Splign:2.1.0"
     exon            523..596
                     /gene="STX1B"
                     /gene_synonym="GEFSP9; STX1B1; STX1B2"
                     /inference="alignment:Splign:2.1.0"
     exon            597..705
                     /gene="STX1B"
                     /gene_synonym="GEFSP9; STX1B1; STX1B2"
                     /inference="alignment:Splign:2.1.0"
     exon            706..779
                     /gene="STX1B"
                     /gene_synonym="GEFSP9; STX1B1; STX1B2"
                     /inference="alignment:Splign:2.1.0"
     exon            780..917
                     /gene="STX1B"
                     /gene_synonym="GEFSP9; STX1B1; STX1B2"
                     /inference="alignment:Splign:2.1.0"
     exon            918..1028
                     /gene="STX1B"
                     /gene_synonym="GEFSP9; STX1B1; STX1B2"
                     /inference="alignment:Splign:2.1.0"
     exon            1029..4674
                     /gene="STX1B"
                     /gene_synonym="GEFSP9; STX1B1; STX1B2"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      4674
                     /gene="STX1B"
                     /gene_synonym="GEFSP9; STX1B1; STX1B2"
                     /note="major polyA site"
ORIGIN      
        1 atcctaccct gtgccgcagc cgcatcgcca ccgcagcccg gcagagccga gcccggccca
       61 ggcccctgcc cctgcccggc cctcggccag tcgcccccgg ccccgccccc gcccgcaggc
      121 cccccgcagc ggccgcggcg ccccccggcg cccccagacc ccggcctccg gcacagaggc
      181 gggagacccg gagcagcagc agaggcagga ggactaggag gaggaggagg agccgtcgca
      241 ggatgaagga tcggactcaa gagctgcgga gtgcgaaaga cagtgatgat gaagaggagg
      301 tggtccacgt ggatcgggac cacttcatgg atgagttctt tgaacaggtg gaagagatcc
      361 ggggctgcat tgagaaactg tcggaggatg tggagcaggt gaaaaaacag catagcgcca
      421 tcctggccgc acccaaccca gatgagaaga ccaaacagga gctggaggat ctcactgcag
      481 acatcaagaa gacggccaac aaggttcggt ccaaattgaa agcgatcgag caaagcattg
      541 aacaggagga ggggctgaac cgttcctccg cggacctgcg catccgcaag acccagcact
      601 ccacactgtc ccggaagttc gtggaggtaa tgaccgaata taacgcgacc cagtccaagt
      661 accgggaccg ctgcaaggac cggatccagc ggcaactgga gatcactgga aggaccacca
      721 ccaacgaaga actggaagac atgctggaga gcgggaagct ggccatcttc acagatgaca
      781 tcaaaatgga ctcacagatg acgaagcagg cgctgaatga gattgagacg aggcacaatg
      841 agatcatcaa gctggagacc agcatccgcg agctgcacga tatgtttgtg gacatggcca
      901 tgctcgtaga gagccaggga gagatgattg accgcatcga gtacaacgtg gaacattctg
      961 tggactacgt ggagcgagct gtgtctgaca ccaagaaagc agtgaaatat cagagcaagg
     1021 cccggaggaa gaaaatcatg atcatcattt gctgtgtggt gctgggggtg gtcttggcgt
     1081 catccattgg ggggacgctg ggcttgtagg ccccccccac ccttctctct cccagaccct
     1141 tcccccacca catcgggagc aataccccca ccaccccttt cactccatcc cctgctccag
     1201 gctcactccc aaaacagacc caggcagccc cacccccacg gcagaccctg gtgtccctgg
     1261 acctcaccgg gccatggacc ccccccccgt ccccgcacgt agatcgcagc aggcgtgatt
     1321 acacatgcac accaacatgc atgccgccgg cacatgctcg agacgtgtgg acaccccagc
     1381 gtgcgtgtgc gtgtgatgtg tgtgatgcac cagagcaccc cctccacccc caccttgggt
     1441 gtgtgtgcgt ggtctgagct tcccccttca ccggggctgt tgtgtagact gcagccaagt
     1501 gtaacacagc agtccatcac gccctctctg tcctctgtga acagtgtgtg tgcgtgcgtg
     1561 agaccacaga tctgtggaca caccatttgt gtacgtggaa ttttgtgttt cagtgtttga
     1621 acctaatgca acagcaacaa agccactgat acctgagccc tttgtgtctg ctacaaacca
     1681 ggcaggtggt gtgtgtggac tcacactcac attctcagag gatccaggga ggcccaggta
     1741 cacacaggcc atggcagaca ccccatgtct ttgttacccc aggggctgtg gcatgtccca
     1801 ggagggtgtg catgtgtgtg tgtgtgtgtg tgtgtgtgtc caggatgtgc ctgaagtatt
     1861 gataggtctt ctcagataga gccctccaca ctgtggactg gacacctgtt ttgggagggc
     1921 acagaaatgt gtatttcttg ctacctagaa tgcagctgtg tgtgtgtggc gtgcgtgtgt
     1981 atgcacgtgt gtgtgtgtgt taggggctct ctacatggtg tgctttttaa tttttttttg
     2041 ttttttgttt tttgtttttt tcgagacgga gtcttgctct gtcacccagg ctggagtgca
     2101 gtggcgcaat ctcagctcac tgcaacctgt gcctccctga cgcaagcgat tctcatgcct
     2161 cagcctccca agtagctggg actacaggcg cctgccacca cgcctggcta attttagaat
     2221 tttagtagag atgaggtttt gacatgttgg ccaggctggt ctcgaactcc tgacctcagg
     2281 tgatccgccc actttggcct ccctaagtgc tggcattaca ggcctgagcc accacgcctg
     2341 gcctacatga tgtgtttctg tcctgcctga cctacatggt gtgtttctgc cctgcgtatt
     2401 acacacacac acacacacgt gcgtgcacac acacttctaa ggacgtggcc ccatctggct
     2461 ttgtctctcc agttgtcctt gccctgcccc cctccccaga ggtgctgccc agtgctggtg
     2521 tggccacaca cggctacatc attgtgcagg cagagctccc tgcctgccca gcctcagggc
     2581 tctgcatgct cacacctaga tcctcatctt cctccatgtc tctgcccagc atagccccga
     2641 gcccctggaa gctggtaccc ctcagtgtgc tcacacgtgg caaggccgag gtggccccag
     2701 gcaggggcca taccaggcac aaaccatgca cgctggcatg ggtgcgggga tcacacgaat
     2761 gcctcctgga aggaaagggc tacttgtagg aatgttactg atgaggcaag atgccaagga
     2821 cttccctgca gggatcaaag atcaggacac gaccccttcc tcacacaccc acctcagacc
     2881 tgggagagga ctgtgtgtcc cccactgccc catcggatgc tctgggctct gcctcaggga
     2941 actcgggttt ggggaaatgt ctatttcaga agtactggag tggccagtgt ggcagtggcc
     3001 actcagggtg ggctgggtcc tgagacccat ccccgacacc tctcctgctg aaccctcagg
     3061 ctgctcccca caccagggtg tgactgaggg gtacacaggc ctggatttct ggtgtgagga
     3121 aggggctagc acctcccctg ttgtgtagcc agcacaggca caatttgtgg gtttggtggc
     3181 aggtaggtgg tgcgtgggag aaaggacagt gttagaggtc cccactccgt ggtctaggat
     3241 catgaaaggt gaacacacaa gtacacaaat gtgccatgcc ctggcatggg gcttatgtgt
     3301 gcacaggcaa ggcactcggt gtgtgtgtgc ggaccccagg gtcccaggtc atgtgaagcg
     3361 tacgtgtgtg tgcattgtat gtgtgtgtac attgtgtgtg cattgtgtgt gcatgtggcc
     3421 aaacagatgt gacctcccag aacacagtac ccctccacct ctacccgagc tcagacagcc
     3481 gagctctccc ttgtcctgtg tgtgtgtcag tgtggccacg tgcgtaaccc caggtgggct
     3541 gtcctgagct gggggcctgc ctgtcccttc ccagaacgcc cctctgcagg acaggaagtc
     3601 tgccccaagt ctggccacgg ccctcctgct cccatctcgg gctgcttggg agacatcaga
     3661 gcaggcccca gcccccagtc ccctcttccg gccgcctgga caggaccccc attcagccca
     3721 ggtgtttccg gaagtcccac ggccttgggg ccacaggaga agggttgaag cgtggctggg
     3781 gcaccactcc ccccacctgg agtggcattg ggcccacagc tgcccatctc tgggcctcag
     3841 gtggaccagg ggatctctaa gggtctgctg tgccctttct atgcgtcctc cacatcctat
     3901 gatgtgcctg cttgttggct gctgtctgtg tgcgtcctgg catgttgtct ggaggctggt
     3961 gtcttttgca tgttcttgga caaatgtgtg ctacctgccc aggcgcctgc aaccattgag
     4021 cccacatgtg ccccacgtgt gccctgcggg tggtcccggg cctggccagg gctcagtgct
     4081 cctcttcccc ctcctccctg ttcccacccc tcatgaagca cactgcgtgt ccatcccatg
     4141 tacccgtggg tcgacacacg ctcttgccac gccctgagcg tgtacacatg atgtgttcta
     4201 tgcattcacc ctgcccccca gcccgccctg cagaggacaa gatgggtggc cccggctccc
     4261 tttcccctaa ccgcccctgc ccgctgtgca gccgtgtgcg ttggcgtgtg tttctgtgtc
     4321 actggcgtgt cacgtgatgt agccgtgttt gctgacatga gcccctgccc ccttctctgt
     4381 ttctccgttg gtttctagag ctctctccct ccccttctca gaggggacag gactcctggg
     4441 gcctggctgg ggcccagagc caggccgccc tctcctgtta gccctcagag tcccatttct
     4501 gttagccctc agagtcccat ttctattggt gaccaacttg caaatggata aaacacagga
     4561 aaatcctgcc ccccccttcc tccctgcatg tcctgtcccc agagcccccc accccaccct
     4621 gggccaggtc aggccctgtg ggacgggaga aatagcaacc aatccaacag cggg
//
