LOCUS       NM_007269               2489 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens syntaxin binding protein 3 (STXBP3), mRNA.
ACCESSION   NM_007269 XM_001129477 XM_001131280
VERSION     NM_007269.4
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 2489)
  AUTHORS   Ouahed,J., Kelsen,J.R., Spessott,W.A., Kooshesh,K., Sanmillan,M.L.,
            Dawany,N., Sullivan,K.E., Hamilton,K.E., Slowik,V., Nejentsev,S.,
            Neves,J.F., Flores,H., Chung,W.K., Wilson,A., Anyane-Yeboa,K.,
            Wou,K., Jain,P., Field,M., Tollefson,S., Dent,M.H., Li,D.,
            Naito,T., McGovern,D.P.B., Kwong,A.C., Taliaferro,F.,
            Ordovas-Montanes,J., Horwitz,B.H., Kotlarz,D., Klein,C., Evans,J.,
            Dorsey,J., Warner,N., Elkadri,A., Muise,A.M., Goldsmith,J.,
            Thompson,B., Engelhardt,K.R., Cant,A.J., Hambleton,S., Barclay,A.,
            Toth-Petroczy,A., Vuzman,D., Carmichael,N., Bodea,C., Cassa,C.A.,
            Devoto,M., Maas,R.L., Behrens,E.M., Giraudo,C.G. and Snapper,S.B.
  TITLE     Variants in STXBP3 are Associated with Very Early Onset
            Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss
            and Immune Dysregulation
  JOURNAL   J Crohns Colitis 15 (11), 1908-1919 (2021)
   PUBMED   33891011
  REMARK    GeneRIF: Variants in STXBP3 are Associated with Very Early Onset
            Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss
            and Immune Dysregulation.
REFERENCE   2  (bases 1 to 2489)
  AUTHORS   Dolai,S., Liang,T., Orabi,A.I., Xie,L., Holmyard,D., Javed,T.A.,
            Fernandez,N.A., Xie,H., Cattral,M.S., Thurmond,D.C., Thorn,P. and
            Gaisano,H.Y.
  TITLE     Depletion of the membrane-fusion regulator Munc18c attenuates
            caerulein hyperstimulation-induced pancreatitis
  JOURNAL   J Biol Chem 293 (7), 2510-2522 (2018)
   PUBMED   29284677
  REMARK    GeneRIF: Pancreatic acini from Munc18c-depleted mice (Munc18c(+/-))
            and human pancreas (lenti-Munc18c-shRNA-treated) exhibit normal
            apical exocytosis of zymogen granules (ZGs) in response to
            physiologic stimulation with the intestinal hormone cholecystokinin
            (CCK-8).
REFERENCE   3  (bases 1 to 2489)
  AUTHORS   Brasher,M.I., Martynowicz,D.M., Grafinger,O.R., Hucik,A.,
            Shanks-Skinner,E., Uniacke,J. and Coppolino,M.G.
  TITLE     Interaction of Munc18c and syntaxin4 facilitates invadopodium
            formation and extracellular matrix invasion of tumor cells
  JOURNAL   J Biol Chem 292 (39), 16199-16210 (2017)
   PUBMED   28798239
  REMARK    GeneRIF: Data suggest MUNC18C is required for STX4-mediated
            invadopodium formation and tumor invasion of extracellular matrix;
            N-terminal STX4 fragment binds to MUNC18C and inhibits interactions
            of STX4 with synaptosome-associated protein 23 (SNAP23) and
            vesicle-associated membrane protein 2 (VAMP2).
            Fibrosarcoma/adenocarcinoma cell lines were used in these studies.
            (MUNC18C = syntaxin binding protein MUNC18C; STX4 = syntaxin 4)
REFERENCE   4  (bases 1 to 2489)
  AUTHORS   Da,Q., Shaw,T., Pradhan,S., Roche,P.A., Cruz,M.A. and Vijayan,K.V.
  TITLE     Disruption of protein complexes containing protein phosphatase 2B
            and Munc18c reduces the secretion of von Willebrand factor from
            endothelial cells
  JOURNAL   J Thromb Haemost 15 (5), 1032-1039 (2017)
   PUBMED   28294518
  REMARK    GeneRIF: PP2B-Aalpha-Munc18c complex supports agonist-induced VWF
            secretion by HUVECs.
REFERENCE   5  (bases 1 to 2489)
  AUTHORS   Soo Hoo,L., Banna,C.D., Radeke,C.M., Sharma,N., Albertolle,M.E.,
            Low,S.H., Weimbs,T. and Vandenberg,C.A.
  TITLE     The SNARE Protein Syntaxin 3 Confers Specificity for Polarized
            Axonal Trafficking in Neurons
  JOURNAL   PLoS One 11 (9), e0163671 (2016)
   PUBMED   27662481
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2489)
  AUTHORS   Schraw,T.D., Lemons,P.P., Dean,W.L. and Whiteheart,S.W.
  TITLE     A role for Sec1/Munc18 proteins in platelet exocytosis
  JOURNAL   Biochem J 374 (Pt 1), 207-217 (2003)
   PUBMED   12773094
REFERENCE   7  (bases 1 to 2489)
  AUTHORS   Houng,A., Polgar,J. and Reed,G.L.
  TITLE     Munc18-syntaxin complexes and exocytosis in human platelets
  JOURNAL   J Biol Chem 278 (22), 19627-19633 (2003)
   PUBMED   12649283
REFERENCE   8  (bases 1 to 2489)
  AUTHORS   Baccon,J., Pellizzoni,L., Rappsilber,J., Mann,M. and Dreyfuss,G.
  TITLE     Identification and characterization of Gemin7, a novel component of
            the survival of motor neuron complex
  JOURNAL   J Biol Chem 277 (35), 31957-31962 (2002)
   PUBMED   12065586
REFERENCE   9  (bases 1 to 2489)
  AUTHORS   Reed,G.L., Houng,A.K. and Fitzgerald,M.L.
  TITLE     Human platelets contain SNARE proteins and a Sec1p homologue that
            interacts with syntaxin 4 and is phosphorylated after thrombin
            activation: implications for platelet secretion
  JOURNAL   Blood 93 (8), 2617-2626 (1999)
   PUBMED   10194441
REFERENCE   10 (bases 1 to 2489)
  AUTHORS   Gengyo-Ando,K., Kitayama,H., Mukaida,M. and Ikawa,Y.
  TITLE     A murine neural-specific homolog corrects cholinergic defects in
            Caenorhabditis elegans unc-18 mutants
  JOURNAL   J Neurosci 16 (21), 6695-6702 (1996)
   PUBMED   8824310
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CN409056.1 and AF032922.2.
            
            On Nov 22, 2018 this sequence version replaced NM_007269.3.
            
            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 :: SRR3476690.276237.1,
                                           SRR3476690.37711.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000370008.4/ ENSP00000359025.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-59                CN409056.1         36-94
            60-2489             AF032922.2         1-2430
FEATURES             Location/Qualifiers
     source          1..2489
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.3"
     gene            1..2489
                     /gene="STXBP3"
                     /gene_synonym="MUNC18-3; MUNC18C; PSP; UNC-18C"
                     /note="syntaxin binding protein 3"
                     /db_xref="GeneID:6814"
                     /db_xref="HGNC:HGNC:11446"
                     /db_xref="MIM:608339"
     exon            1..113
                     /gene="STXBP3"
                     /gene_synonym="MUNC18-3; MUNC18C; PSP; UNC-18C"
                     /inference="alignment:Splign:2.1.0"
     CDS             65..1843
                     /gene="STXBP3"
                     /gene_synonym="MUNC18-3; MUNC18C; PSP; UNC-18C"
                     /note="syntaxin 4 binding protein; unc18-3; platelet Sec1
                     protein; protein unc-18 homolog 3; protein unc-18 homolog
                     C"
                     /codon_start=1
                     /product="syntaxin-binding protein 3"
                     /protein_id="NP_009200.2"
                     /db_xref="CCDS:CCDS790.1"
                     /db_xref="GeneID:6814"
                     /db_xref="HGNC:HGNC:11446"
                     /db_xref="MIM:608339"
                     /translation="MAPPVAERGLKSVVWQKIKATVFDDCKKEGEWKIMLLDEFTTKL
                     LASCCKMTDLLEEGITVVENIYKNREPVRQMKALYFITPTSKSVDCFLHDFASKSENK
                     YKAAYIYFTDFCPDNLFNKIKASCSKSIRRCKEINISFIPHESQVYTLDVPDAFYYCY
                     SPDPGNAKGKDAIMETMADQIVTVCATLDENPGVRYKSKPLDNASKLAQLVEKKLEDY
                     YKIDEKSLIKGKTHSQLLIIDRGFDPVSTVLHELTFQAMAYDLLPIENDTYKYKTDGK
                     EKEAILEEEDDLWVRIRHRHIAVVLEEIPKLMKEISSTKKATEGKTSLSALTQLMKKM
                     PHFRKQITKQVVHLNLAEDCMNKFKLNIEKLCKTEQDLALGTDAEGQKVKDSMRVLLP
                     VLLNKNHDNCDKIRAILLYIFSINGTTEENLDRLIQNVKIENESDMIRNWSYLGVPIV
                     PQSQQGKPLRKDRSAEETFQLSRWTPFIKDIMEDAIDNRLDSKEWPYCSQCPAVWNGS
                     GAVSARQKPRANYLEDRKNGSKLIVFVIGGITYSEVRCAYEVSQAHKSCEVIIGSTHV
                     LTPKKLLDDIKMLNKPKDKVSLIKDE"
     exon            114..163
                     /gene="STXBP3"
                     /gene_synonym="MUNC18-3; MUNC18C; PSP; UNC-18C"
                     /inference="alignment:Splign:2.1.0"
     exon            164..245
                     /gene="STXBP3"
                     /gene_synonym="MUNC18-3; MUNC18C; PSP; UNC-18C"
                     /inference="alignment:Splign:2.1.0"
     exon            246..322
                     /gene="STXBP3"
                     /gene_synonym="MUNC18-3; MUNC18C; PSP; UNC-18C"
                     /inference="alignment:Splign:2.1.0"
     exon            323..401
                     /gene="STXBP3"
                     /gene_synonym="MUNC18-3; MUNC18C; PSP; UNC-18C"
                     /inference="alignment:Splign:2.1.0"
     exon            402..502
                     /gene="STXBP3"
                     /gene_synonym="MUNC18-3; MUNC18C; PSP; UNC-18C"
                     /inference="alignment:Splign:2.1.0"
     exon            503..657
                     /gene="STXBP3"
                     /gene_synonym="MUNC18-3; MUNC18C; PSP; UNC-18C"
                     /inference="alignment:Splign:2.1.0"
     exon            658..748
                     /gene="STXBP3"
                     /gene_synonym="MUNC18-3; MUNC18C; PSP; UNC-18C"
                     /inference="alignment:Splign:2.1.0"
     exon            749..873
                     /gene="STXBP3"
                     /gene_synonym="MUNC18-3; MUNC18C; PSP; UNC-18C"
                     /inference="alignment:Splign:2.1.0"
     exon            874..969
                     /gene="STXBP3"
                     /gene_synonym="MUNC18-3; MUNC18C; PSP; UNC-18C"
                     /inference="alignment:Splign:2.1.0"
     exon            970..1027
                     /gene="STXBP3"
                     /gene_synonym="MUNC18-3; MUNC18C; PSP; UNC-18C"
                     /inference="alignment:Splign:2.1.0"
     exon            1028..1093
                     /gene="STXBP3"
                     /gene_synonym="MUNC18-3; MUNC18C; PSP; UNC-18C"
                     /inference="alignment:Splign:2.1.0"
     exon            1094..1174
                     /gene="STXBP3"
                     /gene_synonym="MUNC18-3; MUNC18C; PSP; UNC-18C"
                     /inference="alignment:Splign:2.1.0"
     exon            1175..1313
                     /gene="STXBP3"
                     /gene_synonym="MUNC18-3; MUNC18C; PSP; UNC-18C"
                     /inference="alignment:Splign:2.1.0"
     exon            1314..1420
                     /gene="STXBP3"
                     /gene_synonym="MUNC18-3; MUNC18C; PSP; UNC-18C"
                     /inference="alignment:Splign:2.1.0"
     exon            1421..1513
                     /gene="STXBP3"
                     /gene_synonym="MUNC18-3; MUNC18C; PSP; UNC-18C"
                     /inference="alignment:Splign:2.1.0"
     exon            1514..1599
                     /gene="STXBP3"
                     /gene_synonym="MUNC18-3; MUNC18C; PSP; UNC-18C"
                     /inference="alignment:Splign:2.1.0"
     exon            1600..1748
                     /gene="STXBP3"
                     /gene_synonym="MUNC18-3; MUNC18C; PSP; UNC-18C"
                     /inference="alignment:Splign:2.1.0"
     exon            1749..2489
                     /gene="STXBP3"
                     /gene_synonym="MUNC18-3; MUNC18C; PSP; UNC-18C"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2472..2477
                     /regulatory_class="polyA_signal_sequence"
                     /gene="STXBP3"
                     /gene_synonym="MUNC18-3; MUNC18C; PSP; UNC-18C"
                     /note="hexamer: AATATA"
     polyA_site      2489
                     /gene="STXBP3"
                     /gene_synonym="MUNC18-3; MUNC18C; PSP; UNC-18C"
                     /note="major polyA site"
ORIGIN      
        1 gcttctgcgg ccaaagtagg ttgggagtgg aaggtggtgg ctgctgctcc gcagtgtcgg
       61 gaagatggcg ccgccggtgg cagagagggg gctaaagagc gtcgtgtggc agaagataaa
      121 agcaacagtg tttgatgact gcaagaaaga aggcgaatgg aagataatgc ttttagatga
      181 atttaccact aagcttttgg catcgtgttg caaaatgaca gatcttctag aagaaggtat
      241 tactgttgta gagaatattt ataagaaccg tgaacctgtc agacaaatga aagctcttta
      301 tttcatcact ccgacatcaa agtctgtaga ttgtttctta catgattttg caagtaaatc
      361 ggagaacaag tataaagcag catatattta cttcactgac ttttgccctg ataatctctt
      421 taacaaaatt aaggcttctt gctccaagtc aataagaaga tgtaaagaaa taaatatttc
      481 cttcattcca catgaatctc aggtgtatac tcttgatgta ccagatgcat tctattactg
      541 ttatagtcca gaccctggta atgcaaaggg aaaagatgcc attatggaaa caatggctga
      601 ccagatagtt acagtgtgtg ccaccttgga tgaaaatccc ggagtaagat ataaaagtaa
      661 acctctagat aatgccagta agcttgcaca gcttgttgaa aaaaagcttg aagactacta
      721 caagattgat gaaaagagcc taataaaggg taaaactcat tcacagctct taataattga
      781 tcgtggcttt gatcctgtgt ccactgtcct gcatgaactg acctttcagg caatggcata
      841 tgatctacta ccaattgaga atgatacata caaatataaa acagatggaa aagaaaagga
      901 ggccatcctt gaagaagaag atgacctctg ggttagaatt cgacatcgac atattgcggt
      961 tgtgttagag gaaattccca agcttatgaa agaaatttca tcaacaaaga aagcaacaga
     1021 aggaaagaca tcacttagtg ctcttaccca gctgatgaaa aagatgcccc atttccgaaa
     1081 acagattact aagcaagttg tccatcttaa cttagcagaa gattgcatga ataagttcaa
     1141 gcttaatata gaaaagctct gcaaaactga acaggacctg gcacttggaa ctgatgcaga
     1201 aggacagaag gtgaaagatt ccatgcgagt actccttcca gttctactca acaaaaatca
     1261 tgataattgt gataaaataa gagcaattct actttatatc ttcagtatta atggaactac
     1321 ggaagaaaat ttggacaggt tgatccagaa tgtaaagata gaaaatgaga gtgacatgat
     1381 tcgtaactgg agttaccttg gtgttcccat tgttccccaa tctcaacaag gcaaaccgtt
     1441 aagaaaggat cggtctgcag aagaaacttt tcagctctct cggtggacac cttttatcaa
     1501 agatattatg gaggatgcta ttgataatag attagattca aaagaatggc catattgttc
     1561 ccagtgtcca gcagtatgga atggttcagg agctgtaagt gctcgccaga aacccagagc
     1621 taattattta gaagaccgaa aaaatgggtc aaagctgatt gtttttgtaa ttggagggat
     1681 cacatactct gaagtgcgtt gtgcttatga agtttctcag gcacataaat cctgtgaagt
     1741 tattattggt tctacacatg ttttaacacc caaaaagctg ttggatgata taaagatgct
     1801 gaataaaccc aaggataaag tctccttaat taaagatgaa tagcatttct ttttggaggg
     1861 tttagagatt cttactaata tgttgaacta aaatagaaag aaaatgttgc tgtcatgtaa
     1921 tttaaacaat gtaaatattt tatggaataa tggcttttca aatacatttc ttaaggaact
     1981 gtttatgatt attactggat ttgtcatttt tgataattta aatattgctg ctgctttgta
     2041 gatgatgaga agaaatgtta aagtgctttc taaaaggaaa ttttttcacc tttggaggag
     2101 aatatattag agttgtgggt aatttttcac agccacctat gtacatacta attacccatt
     2161 ggatacttat atctaaaagt ctcatgctga agtatagttt ttgggaaaga atgattttaa
     2221 ataaagagat tgtaaaagta aaaaactgta aatgtatatg tatgatagaa ttgtttcctc
     2281 taagtgtagt ttttctttca actaaaattc agtttatgtg taaaataatt cagtcattaa
     2341 tagaaatgga gtgatttcac agtgtgtact gttttgccac atacttctaa agaacacaat
     2401 tttatataat tttgaaatca tgtatgttta aattagaaaa ccaaaaatca tgaacattct
     2461 aagagaaaat aaatatagaa tttaaaaaa
//
