LOCUS       NM_001394410            4190 bp    mRNA    linear   PRI 13-FEB-2025
DEFINITION  Homo sapiens syntaxin binding protein 6 (STXBP6), transcript
            variant 8, mRNA.
ACCESSION   NM_001394410 XM_017021231
VERSION     NM_001394410.1
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 4190)
  AUTHORS   Qian,Y., Chen,S., Wang,Y., Zhang,Y., Zhang,J., Jiang,L., Dai,H.,
            Shen,M., He,Y., Jiang,H., Yang,T., Fu,Q. and Xu,K.
  TITLE     A functional variant rs912304 for late-onset T1D risk contributes
            to islet dysfunction by regulating proinflammatory
            cytokine-responsive gene STXBP6 expression
  JOURNAL   BMC Med 22 (1), 357 (2024)
   PUBMED   39227839
  REMARK    GeneRIF: A functional variant rs912304 for late-onset T1D risk
            contributes to islet dysfunction by regulating proinflammatory
            cytokine-responsive gene STXBP6 expression.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4190)
  AUTHORS   Liu,Y., Huang,Z., Wei,Y., Zhang,M., Li,X., Yang,S. and Wang,H.
  TITLE     Identification of STXBP6-IRF1 positive feedback loop in regulation
            of PD-L1 in cancer
  JOURNAL   Cancer Immunol Immunother 70 (2), 275-287 (2021)
   PUBMED   32700091
  REMARK    GeneRIF: Identification of STXBP6-IRF1 positive feedback loop in
            regulation of PD-L1 in cancer.
REFERENCE   3  (bases 1 to 4190)
  AUTHORS   Lenka,G., Tsai,M.H., Lin,H.C., Hsiao,J.H., Lee,Y.C., Lu,T.P.,
            Lee,J.M., Hsu,C.P., Lai,L.C. and Chuang,E.Y.
  TITLE     Identification of Methylation-Driven, Differentially Expressed
            STXBP6 as a Novel Biomarker in Lung Adenocarcinoma
  JOURNAL   Sci Rep 7, 42573 (2017)
   PUBMED   28198450
  REMARK    GeneRIF: Our results provide a basis for the genetic etiology of
            lung adenocarcinoma by demonstrating the possible role of
            hypermethylation of STXBP6 in poor clinical outcomes in lung cancer
            patients.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4190)
  AUTHORS   Guo,Z., Neilson,L.J., Zhong,H., Murray,P.S., Zanivan,S. and
            Zaidel-Bar,R.
  TITLE     E-cadherin interactome complexity and robustness resolved by
            quantitative proteomics
  JOURNAL   Sci Signal 7 (354), rs7 (2014)
   PUBMED   25468996
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4190)
  AUTHORS   Scannell Bryan,M., Argos,M., Pierce,B., Tong,L., Rakibuz-Zaman,M.,
            Ahmed,A., Rahman,M., Islam,T., Yunus,M., Parvez,F., Roy,S.,
            Jasmine,F., Baron,J.A., Kibriya,M.G. and Ahsan,H.
  TITLE     Genome-wide association studies and heritability estimates of body
            mass index related phenotypes in Bangladeshi adults
  JOURNAL   PLoS One 9 (8), e105062 (2014)
   PUBMED   25133637
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4190)
  AUTHORS   Furney,S.J., Simmons,A., Breen,G., Pedroso,I., Lunnon,K.,
            Proitsi,P., Hodges,A., Powell,J., Wahlund,L.O., Kloszewska,I.,
            Mecocci,P., Soininen,H., Tsolaki,M., Vellas,B., Spenger,C.,
            Lathrop,M., Shen,L., Kim,S., Saykin,A.J., Weiner,M.W. and
            Lovestone,S.
  CONSRTM   Alzheimer's Disease Neuroimaging Initiative; AddNeuroMed Consortium
  TITLE     Genome-wide association with MRI atrophy measures as a quantitative
            trait locus for Alzheimer's disease
  JOURNAL   Mol Psychiatry 16 (11), 1130-1138 (2011)
   PUBMED   21116278
REFERENCE   7  (bases 1 to 4190)
  AUTHORS   Oh,J.H., Yang,J.O., Hahn,Y., Kim,M.R., Byun,S.S., Jeon,Y.J.,
            Kim,J.M., Song,K.S., Noh,S.M., Kim,S., Yoo,H.S., Kim,Y.S. and
            Kim,N.S.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   8  (bases 1 to 4190)
  AUTHORS   Sudhof,T.C.
  TITLE     The synaptic vesicle cycle
  JOURNAL   Annu Rev Neurosci 27, 509-547 (2004)
   PUBMED   15217342
  REMARK    Review article
REFERENCE   9  (bases 1 to 4190)
  AUTHORS   Heilig,R., Eckenberg,R., Petit,J.L., Fonknechten,N., Da Silva,C.,
            Cattolico,L., Levy,M., Barbe,V., de Berardinis,V., Ureta-Vidal,A.,
            Pelletier,E., Vico,V., Anthouard,V., Rowen,L., Madan,A., Qin,S.,
            Sun,H., Du,H., Pepin,K., Artiguenave,F., Robert,C., Cruaud,C.,
            Bruls,T., Jaillon,O., Friedlander,L., Samson,G., Brottier,P.,
            Cure,S., Segurens,B., Aniere,F., Samain,S., Crespeau,H., Abbasi,N.,
            Aiach,N., Boscus,D., Dickhoff,R., Dors,M., Dubois,I., Friedman,C.,
            Gouyvenoux,M., James,R., Madan,A., Mairey-Estrada,B., Mangenot,S.,
            Martins,N., Menard,M., Oztas,S., Ratcliffe,A., Shaffer,T.,
            Trask,B., Vacherie,B., Bellemere,C., Belser,C., Besnard-Gonnet,M.,
            Bartol-Mavel,D., Boutard,M., Briez-Silla,S., Combette,S.,
            Dufosse-Laurent,V., Ferron,C., Lechaplais,C., Louesse,C.,
            Muselet,D., Magdelenat,G., Pateau,E., Petit,E.,
            Sirvain-Trukniewicz,P., Trybou,A., Vega-Czarny,N., Bataille,E.,
            Bluet,E., Bordelais,I., Dubois,M., Dumont,C., Guerin,T.,
            Haffray,S., Hammadi,R., Muanga,J., Pellouin,V., Robert,D.,
            Wunderle,E., Gauguet,G., Roy,A., Sainte-Marthe,L., Verdier,J.,
            Verdier-Discala,C., Hillier,L., Fulton,L., McPherson,J.,
            Matsuda,F., Wilson,R., Scarpelli,C., Gyapay,G., Wincker,P.,
            Saurin,W., Quetier,F., Waterston,R., Hood,L. and Weissenbach,J.
  TITLE     The DNA sequence and analysis of human chromosome 14
  JOURNAL   Nature 421 (6923), 601-607 (2003)
   PUBMED   12508121
  REMARK    Erratum:[Nature. 2023 Aug;620(7973):E17. doi:
            10.1038/s41586-023-06403-y.. PMID: 37491470]
REFERENCE   10 (bases 1 to 4190)
  AUTHORS   Scales,S.J., Hesser,B.A., Masuda,E.S. and Scheller,R.H.
  TITLE     Amisyn, a novel syntaxin-binding protein that may regulate SNARE
            complex assembly
  JOURNAL   J Biol Chem 277 (31), 28271-28279 (2002)
   PUBMED   12145319
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL161666.4, AL137164.3 and AL161663.4.
            
            On Apr 19, 2021 this sequence version replaced XM_017021231.2.
            
            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 :: SRR11853558.6853.1,
                                           SRR11853561.8797.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000323944.10/ ENSP00000324302.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-270               AL161666.4         40636-40905         c
            271-456             AL137164.3         38734-38919
            457-587             AL161663.4         131657-131787       c
            588-753             AL161663.4         130566-130731       c
            754-911             AL161663.4         93667-93824         c
            912-4190            AL161663.4         84084-87362         c
FEATURES             Location/Qualifiers
     source          1..4190
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q12"
     gene            1..4190
                     /gene="STXBP6"
                     /gene_synonym="amisyn; HSPC156"
                     /note="syntaxin binding protein 6"
                     /db_xref="GeneID:29091"
                     /db_xref="HGNC:HGNC:19666"
                     /db_xref="MIM:607958"
     exon            1..270
                     /gene="STXBP6"
                     /gene_synonym="amisyn; HSPC156"
                     /inference="alignment:Splign:2.1.0"
     exon            271..456
                     /gene="STXBP6"
                     /gene_synonym="amisyn; HSPC156"
                     /inference="alignment:Splign:2.1.0"
     CDS             303..935
                     /gene="STXBP6"
                     /gene_synonym="amisyn; HSPC156"
                     /note="isoform 1 is encoded by transcript variant 8"
                     /codon_start=1
                     /product="syntaxin-binding protein 6 isoform 1"
                     /protein_id="NP_001381339.1"
                     /db_xref="CCDS:CCDS9634.1"
                     /db_xref="GeneID:29091"
                     /db_xref="HGNC:HGNC:19666"
                     /db_xref="MIM:607958"
                     /translation="MSAKSAISKEIFAPLDERMLGAVQVKRRTKKKIPFLATGGQGEY
                     LTYICLSVTNKKPTQASITKVKQFEGSTSFVRRSQWMLEQLRQVNGIDPNGDSAEFDL
                     LFENAFDQWVASTASEKCTFFQILHHTCQRYLTDRKPEFINCQSKIMGGNSILHSAAD
                     SVTSAVQKASQALNERGERLGRAEEKTEDLKNSAQQFAETAHKLAMKHKC"
     exon            457..587
                     /gene="STXBP6"
                     /gene_synonym="amisyn; HSPC156"
                     /inference="alignment:Splign:2.1.0"
     exon            588..753
                     /gene="STXBP6"
                     /gene_synonym="amisyn; HSPC156"
                     /inference="alignment:Splign:2.1.0"
     exon            754..911
                     /gene="STXBP6"
                     /gene_synonym="amisyn; HSPC156"
                     /inference="alignment:Splign:2.1.0"
     exon            912..4190
                     /gene="STXBP6"
                     /gene_synonym="amisyn; HSPC156"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1131..1136
                     /regulatory_class="polyA_signal_sequence"
                     /gene="STXBP6"
                     /gene_synonym="amisyn; HSPC156"
                     /note="hexamer: AATAAA"
     polyA_site      1158
                     /gene="STXBP6"
                     /gene_synonym="amisyn; HSPC156"
                     /note="major polyA site"
     regulatory      3964..3969
                     /regulatory_class="polyA_signal_sequence"
                     /gene="STXBP6"
                     /gene_synonym="amisyn; HSPC156"
                     /note="hexamer: ATTAAA"
     polyA_site      3990
                     /gene="STXBP6"
                     /gene_synonym="amisyn; HSPC156"
                     /note="major polyA site"
     regulatory      4172..4177
                     /regulatory_class="polyA_signal_sequence"
                     /gene="STXBP6"
                     /gene_synonym="amisyn; HSPC156"
                     /note="hexamer: ACTAAA"
     polyA_site      4190
                     /gene="STXBP6"
                     /gene_synonym="amisyn; HSPC156"
ORIGIN      
        1 gcactcggcg gcgggcgggc gcgcggctgc agctggagct ccagcgcccg gagttggagt
       61 tgccgggagt ttccccccaa cccctccctt ttcgcgcgcg gcagcaggag ccggcgcggg
      121 agccgcgagc ggcggcgagc cagcacccgg gccggctaag ccttgtccgg agcccggagc
      181 cccgcgcggg gcagcccccc ggggaggagc ctcgtgctct gggacgcgtg ccgcgcactg
      241 gcacggcagg ggcgcgagcc aggctgcacg attcactgcg tgctgtcctc acttgttcta
      301 caatgagtgc caaatctgct atcagcaagg aaatttttgc acctcttgat gaaaggatgc
      361 tgggagctgt ccaagtcaag aggaggacaa agaaaaagat tcctttcttg gcaactggag
      421 gtcaaggcga atatttaact tatatctgcc tgtcagtgac aaacaagaaa cccacacagg
      481 cgtccatcac aaaggtcaaa cagtttgaag gctccacatc atttgttcgg agatcacagt
      541 ggatgctcga gcagcttcgc caggttaatg gtatcgatcc taatggggat tcggcagagt
      601 ttgatttgtt gtttgaaaat gcttttgacc agtgggtagc cagcacagcg tcagaaaaat
      661 gcaccttctt ccagatcctc caccatacct gccagaggta cctcacggac aggaagccag
      721 agtttattaa ctgccaatcc aaaattatgg gaggaaacag catcctccat tcagctgctg
      781 acagcgtgac cagcgcagtg cagaaggcaa gccaggcctt gaatgagcgt ggagagcgat
      841 taggccgagc agaggagaag acagaagacc tgaagaacag cgcccagcag tttgcagaaa
      901 ctgcgcacaa gcttgccatg aagcacaaat gttgagaaac tgcctatcct ggtgactctt
      961 cttaagagaa actgaagagt ttgttcagca gtttttacaa gaattcggga cctccgcttg
     1021 cttctttttt tccaatattt ggacacttag agtggttttt gttttttctt ttcagatgtt
     1081 aatgtgaaag aaagggtgtt gcatttttac atttccctaa tgatcttgct aataaatgct
     1141 acaatagcat cagcttcatt ttgggttttt gcctcctccc actgtgtgta tgtgtgtata
     1201 tgtatgtttt gaatatgttt tctttattaa aaaatatttt ttgtagtttg aatatgaaat
     1261 ttggaccaaa tgataaactg cgctgagtct aaactggcaa catgtatttt tttctctgat
     1321 attaagcagg aaggcatttt aatgtggtga catcagatgt tatttttcct agatgaaaat
     1381 aaaagtcaag cagtgattag tttcactcac tgtcctagct acacttaatt tgaagattaa
     1441 aattctacat tgtggaaaac aattgaattt attgggaaaa acagcagtct tagattttgc
     1501 tccttgcata gtaatctttt gcatgaacca tcaccagcgt tcaaaaaaaa aaaaaaatca
     1561 gaatcgcaga tagaaatctc tttcctgagt tacagtttaa atactcttgc tacttgtatc
     1621 cagggtgttt acttggaatt atcatatgaa gggtaaaaat ttgagagtaa agccctaaag
     1681 aaaagcctac ctaaaaccct ctgtgtactc acagatgttt ctcttgtcac tgtcatagtg
     1741 atggtcgctg gtatggaaaa gtgcttatat ttttatcaaa aaattgattt gtccaggtaa
     1801 aggtctgtgt caatgataat gtgaacaagt agtacattta aaatgtttgt cttgtctttt
     1861 tacagtcatg cctattttag agacaccttc ataatgtcct tgggagaggg cctttagttt
     1921 cttggtatct ggattttgga ggttttgatg ttgtttttgc tatctattta tttaatgtaa
     1981 tttaatatgt gagtttcttg acaaattgca tttcatggca attgcacctt gcctggtctg
     2041 atataaaaca ccacaatcac aaacctttac attgcagtca gtttcaatac agttggtcac
     2101 acacctcgtg attttctatt actcaagata ataaggggct tagggtctag aagttctgtt
     2161 tcctagaggg ttaaaatgct aaacataaaa aaagctgtgc tttttttgtg aaactaggag
     2221 acaagctgca catctcagac acattgtaag cctaccactg cagcgcattg atttttaagc
     2281 tgcctgaatc ttcaggaccc ctatctattc catcctatcc attttgctga ttgagtcgat
     2341 atgtattgca gcctcttaca taggagcata agatgacttt tggattgtta atactgattt
     2401 aaatagctga agttctccta ataaagcatt cccaaggaga gagaaagttt gtctactggg
     2461 ggtaaaaata tcagatggtg cacattaaaa gggagatgag atttgtcgga gacagatttc
     2521 agaatccttt tagatgatcc aattcaagaa aaccctctat aaaatttaat aaactgtata
     2581 agttaactat aatattttat actttctttt tggtgtctta aaaatttaaa gaagcgagga
     2641 acatgccatt tggtgagtac cgttggaagc tattttaatt tctaggaaaa gccccaaata
     2701 tcactccaaa tagattttgt ttgcagatct cagttcagaa tgcacacaca cacacacaca
     2761 cacacacaca cacacacaga gatgtattta tctttccaaa ttggattctg gtttcagaga
     2821 tagagagttg gtataaataa ttgaaaggat aaatctaaaa ccccctgaca gtccgccaaa
     2881 ttcaagaaca gaagtggttg ccaactctct aacaacaatg tttgggaagc tgattccaaa
     2941 gtagctgagg atgaggtcat aagcatactg tgaaacccaa gattcttctt ccctggtaga
     3001 attacaatag ttactcttga taaatataag tattccatgt cttgccctct ttcctcactc
     3061 tctgcttatc cttttagacc taagtttcat tggaaatagc ctgaattaga agaaagccca
     3121 tccgaatctt tattagcccc ctctaatgat tagtttccag gctgcgttca tacctttgac
     3181 ctctcagtgt caaagtccta cctaggcctc cccacaacag agagggccgt aacagcaatc
     3241 cctgcccctc ctttacctcc cagcctcttg cagaggagcc cagtgataac acatgtgaag
     3301 ttctttgctg tcctcttgta gaaggtgctg cagtgcaaag tattaatacg gtcttagaca
     3361 aaataactgt catgatttgg gaccagtttg gttgagcttg tcagaagaca tttcatttgt
     3421 ttcatttctg cacttctcta tgaattttgg gatactatat ttctgtgaag gacttattgt
     3481 atagacaact caaaaaggaa agaaactttc cagtattacc acttcttcct ggaatatagc
     3541 tgtagtattt ctcactagta ttattagata cctgtgtaca gaaagtatgc agttattcag
     3601 gttaatgttt catattaaag aatgtatttg taaaatgtaa catgatcagt agttaccttt
     3661 tttcaagctc tgaagaagtt cagattacgt gttagactta agttacagtg aaaactgttt
     3721 taatactact tttgtggcta gcaaaggttg tgcatctatt taaaattatt tacaggatgc
     3781 tctaaataag gggcattaaa gataggttta gctcttaatt ttagaaattg tgacactact
     3841 gatgtctgtc atacagttat tcttcagaag ttctctgaga tgtcaaatat aatttttgtt
     3901 taattcagag ataagtaaca cctgctctat tgattcacta ttacaacaaa ccctaatttt
     3961 gtcattaaat attttaactc tgtgatgaaa tttgtttctt gcagttattt atgaactcta
     4021 taaaacacta ccaaataagt acatgtcacc acatttttta tgctaatagg aaaatcttat
     4081 gtgcctaagg ggaaacctca gaactagtat tagcatgatg ataaaatgtc attacatatg
     4141 ttctaatgga aaagcttgga atgtaataaa gactaaagag ctaaccttaa
//
