LOCUS       NM_004603               2102 bp    mRNA    linear   PRI 24-APR-2024
DEFINITION  Homo sapiens syntaxin 1A (STX1A), transcript variant 1, mRNA.
ACCESSION   NM_004603
VERSION     NM_004603.4
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 2102)
  AUTHORS   Habib,C.A., El-Sebai,A.A., Fouad,M.M., El-Mohamdy,M.A., Abdel
            Ghani,A.M. and Bawady,S.A.
  TITLE     Assessment of Stx-1A gene polymorphism (rs1569061) in relation to
            the development of multiple sclerosis in Egyptian patients
  JOURNAL   Egypt J Immunol 31 (2), 18-27 (2024)
   PUBMED   38615201
  REMARK    GeneRIF: Assessment of Stx-1A gene polymorphism (rs1569061) in
            relation to the development of multiple sclerosis in Egyptian
            patients.
REFERENCE   2  (bases 1 to 2102)
  AUTHORS   Iadarola,M.J., Sapio,M.R., Loydpierson,A.J., Mervis,C.B.,
            Fehrenbacher,J.C., Vasko,M.R., Maric,D., Eisenberg,D.P., Nash,T.A.,
            Kippenhan,J.S., Garvey,M.H., Mannes,A.J., Gregory,M.D. and
            Berman,K.F.
  TITLE     Syntaxin1A overexpression and pain insensitivity in individuals
            with 7q11.23 duplication syndrome
  JOURNAL   JCI Insight 9 (4), e176147 (2024)
   PUBMED   38261410
  REMARK    GeneRIF: Syntaxin1A overexpression and pain insensitivity in
            individuals with 7q11.23 duplication syndrome.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2102)
  AUTHORS   Luppe,J., Sticht,H., Lecoquierre,F., Goldenberg,A., Gorman,K.M.,
            Molloy,B., Agolini,E., Novelli,A., Briuglia,S., Kuismin,O.,
            Marcelis,C., Vitobello,A., Denomme-Pichon,A.S., Julia,S.,
            Lemke,J.R., Abou Jamra,R. and Platzer,K.
  TITLE     Heterozygous and homozygous variants in STX1A cause a
            neurodevelopmental disorder with or without epilepsy
  JOURNAL   Eur J Hum Genet 31 (3), 345-352 (2023)
   PUBMED   36564538
  REMARK    GeneRIF: Heterozygous and homozygous variants in STX1A cause a
            neurodevelopmental disorder with or without epilepsy.
REFERENCE   4  (bases 1 to 2102)
  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   5  (bases 1 to 2102)
  AUTHORS   Agliardi,C., Meloni,M., Guerini,F.R., Zanzottera,M., Bolognesi,E.,
            Baglio,F. and Clerici,M.
  TITLE     Oligomeric alpha-Syn and SNARE complex proteins in peripheral
            extracellular vesicles of neural origin are biomarkers for
            Parkinson's disease
  JOURNAL   Neurobiol Dis 148, 105185 (2021)
   PUBMED   33217562
  REMARK    GeneRIF: Oligomeric alpha-Syn and SNARE complex proteins in
            peripheral extracellular vesicles of neural origin are biomarkers
            for Parkinson's disease.
REFERENCE   6  (bases 1 to 2102)
  AUTHORS   McMahon,H.T., Missler,M., Li,C. and Sudhof,T.C.
  TITLE     Complexins: cytosolic proteins that regulate SNAP receptor function
  JOURNAL   Cell 83 (1), 111-119 (1995)
   PUBMED   7553862
REFERENCE   7  (bases 1 to 2102)
  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 2102)
  AUTHORS   Zhang,R., Maksymowych,A.B. and Simpson,L.L.
  TITLE     Cloning and sequence analysis of a cDNA encoding human syntaxin 1A,
            a polypeptide essential for exocytosis
  JOURNAL   Gene 159 (2), 293-294 (1995)
   PUBMED   7622072
REFERENCE   9  (bases 1 to 2102)
  AUTHORS   Bennett,M.K., Calakos,N. and Scheller,R.H.
  TITLE     Syntaxin: a synaptic protein implicated in docking of synaptic
            vesicles at presynaptic active zones
  JOURNAL   Science 257 (5067), 255-259 (1992)
   PUBMED   1321498
REFERENCE   10 (bases 1 to 2102)
  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 DA159446.1, BC064644.1 and
            BC003011.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_004603.3.
            
            Summary: This gene encodes a member of the syntaxin superfamily.
            Syntaxins are nervous system-specific proteins implicated in the
            docking of synaptic vesicles with the presynaptic plasma membrane.
            Syntaxins possess a single C-terminal transmembrane domain, a SNARE
            [Soluble NSF (N-ethylmaleimide-sensitive fusion protein)-Attachment
            protein REceptor] domain (known as H3), and an N-terminal
            regulatory domain (Habc). Syntaxins bind synaptotagmin in a
            calcium-dependent fashion and interact with voltage dependent
            calcium and potassium channels via the C-terminal H3 domain. This
            gene product is a key molecule in ion channel regulation and
            synaptic exocytosis. Alternatively spliced transcript variants
            encoding different isoforms have been found for this gene.[provided
            by RefSeq, Sep 2009].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            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 :: BC064644.1, D37932.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000222812.8/ ENSP00000222812.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-11                DA159446.1         19-29
            12-1264             BC064644.1         1-1253
            1265-2102           BC003011.1         1209-2046
FEATURES             Location/Qualifiers
     source          1..2102
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.23"
     gene            1..2102
                     /gene="STX1A"
                     /gene_synonym="HPC-1; P35-1; STX1; SYN1A"
                     /note="syntaxin 1A"
                     /db_xref="GeneID:6804"
                     /db_xref="HGNC:HGNC:11433"
                     /db_xref="MIM:186590"
     exon            1..68
                     /gene="STX1A"
                     /gene_synonym="HPC-1; P35-1; STX1; SYN1A"
                     /inference="alignment:Splign:2.1.0"
     CDS             39..905
                     /gene="STX1A"
                     /gene_synonym="HPC-1; P35-1; STX1; SYN1A"
                     /note="isoform 1 is encoded by transcript variant 1;
                     neuron-specific antigen HPC-1; syntaxin 1A (brain)"
                     /codon_start=1
                     /product="syntaxin-1A isoform 1"
                     /protein_id="NP_004594.1"
                     /db_xref="CCDS:CCDS34655.1"
                     /db_xref="GeneID:6804"
                     /db_xref="HGNC:HGNC:11433"
                     /db_xref="MIM:186590"
                     /translation="MKDRTQELRTAKDSDDDDDVAVTVDRDRFMDEFFEQVEEIRGFI
                     DKIAENVEEVKRKHSAILASPNPDEKTKEELEELMSDIKKTANKVRSKLKSIEQSIEQ
                     EEGLNRSSADLRIRKTQHSTLSRKFVEVMSEYNATQSDYRERCKGRIQRQLEITGRTT
                     TSEELEDMLESGNPAIFASGIIMDSSISKQALSEIETRHSEIIKLENSIRELHDMFMD
                     MAMLVESQGEMIDRIEYNVEHAVDYVERAVSDTKKAVKYQSKARRKKIMIIICCVILG
                     IVIASTVGGIFA"
     exon            69..146
                     /gene="STX1A"
                     /gene_synonym="HPC-1; P35-1; STX1; SYN1A"
                     /inference="alignment:Splign:2.1.0"
     exon            147..246
                     /gene="STX1A"
                     /gene_synonym="HPC-1; P35-1; STX1; SYN1A"
                     /inference="alignment:Splign:2.1.0"
     exon            247..321
                     /gene="STX1A"
                     /gene_synonym="HPC-1; P35-1; STX1; SYN1A"
                     /inference="alignment:Splign:2.1.0"
     exon            322..395
                     /gene="STX1A"
                     /gene_synonym="HPC-1; P35-1; STX1; SYN1A"
                     /inference="alignment:Splign:2.1.0"
     exon            396..504
                     /gene="STX1A"
                     /gene_synonym="HPC-1; P35-1; STX1; SYN1A"
                     /inference="alignment:Splign:2.1.0"
     exon            505..578
                     /gene="STX1A"
                     /gene_synonym="HPC-1; P35-1; STX1; SYN1A"
                     /inference="alignment:Splign:2.1.0"
     exon            579..716
                     /gene="STX1A"
                     /gene_synonym="HPC-1; P35-1; STX1; SYN1A"
                     /inference="alignment:Splign:2.1.0"
     exon            717..827
                     /gene="STX1A"
                     /gene_synonym="HPC-1; P35-1; STX1; SYN1A"
                     /inference="alignment:Splign:2.1.0"
     exon            828..2102
                     /gene="STX1A"
                     /gene_synonym="HPC-1; P35-1; STX1; SYN1A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2083..2088
                     /regulatory_class="polyA_signal_sequence"
                     /gene="STX1A"
                     /gene_synonym="HPC-1; P35-1; STX1; SYN1A"
                     /note="hexamer: AATAAA"
     polyA_site      2102
                     /gene="STX1A"
                     /gene_synonym="HPC-1; P35-1; STX1; SYN1A"
                     /note="major polyA site"
ORIGIN      
        1 acacggctgc agccggcgcc gctgccactc ccgggagcat gaaggaccga acccaggagc
       61 tccgcacggc caaggacagc gatgatgatg atgatgtcgc tgtcaccgtg gaccgagacc
      121 gcttcatgga tgagttcttt gagcaggtgg aggagattcg aggcttcatt gacaagatcg
      181 cagagaacgt ggaggaggtg aagcggaagc acagtgccat cctggcatcc cccaaccccg
      241 atgagaagac gaaggaggag ctggaagaac tcatgtccga cataaagaag acagcaaaca
      301 aagttcgttc caagttaaag agcatcgagc agtccatcga gcaagaggaa ggcctgaacc
      361 gctcctccgc tgacctgagg atccggaaga cacagcactc cacgctgtcc agaaagtttg
      421 tggaggtcat gtcggagtac aacgccacgc agtccgacta ccgcgagcgc tgcaaaggcc
      481 gcatccagag gcagctggag atcaccggca ggaccacgac cagtgaggag ctggaggaca
      541 tgctggagag tgggaacccc gccatctttg cctctgggat catcatggac tccagcatct
      601 cgaagcaggc tctgagcgag attgagacgc ggcacagtga gatcatcaag ctggagaaca
      661 gcatccgtga gctacacgac atgttcatgg acatggccat gctcgtggag agccagggag
      721 agatgattga caggatcgag tacaatgtgg aacacgcggt agactatgtg gagagggccg
      781 tgtctgacac caagaaggcc gtcaagtacc agagcaaggc gcgccggaag aaaatcatga
      841 tcatcatctg ctgtgtgatc ctgggcatcg tcatcgcctc cactgttggg ggcatcttcg
      901 cctagaagcc acccaaactg ccactccact ccaggtgggc cactccaagg aggccctggc
      961 tgctgccacc tggctgggct gccctcccaa cccccgcctc tggctcagag caccctccct
     1021 cccggccccc atgctccctt ctctgccatg ggccctccgt ccccgccccg tgtcgtgtgc
     1081 atgatctctg tgagtgtgcg tctgtacggg aagaggcaga gggaggcagc cagcggggcg
     1141 tgatgcagtg tgcacagcga ggagcagacc caggcagggc cgccagggtg acacaggcca
     1201 cccttccttg ccttcagtaa ctcggtgggc ccaggttctg ctcttccctg gggaccctaa
     1261 cctcgcctcc agctgacctg ccctgtcctc tccagctgtc cccacaagca gagccctgag
     1321 gggtggggac cagctggcca catggtgctg cttttcaggt taggggagag gtggccctga
     1381 gggacagccc agctctgagt ctcagtcgct gatcactgcc agggaggctc aggctgccat
     1441 ggctccaggc tccctcccct gcctaggggc aaagtccatc gggtcctggg cctcagcttc
     1501 ccttcccaca ttcctccggc cccaggagca accccttggg ctaggtctga ccccaggtgt
     1561 ccctctggaa ggggctggct ggtgccctat ttccagccac cccagcagct agggaggcaa
     1621 agcaggctgc agtcagtccc tcaagccagc gttgcatgtt tgggatggtg gctcctgttg
     1681 tcttgcgctc tgggaagtca gatgtcattt caggcctgca gtctcatcct gcccttgcca
     1741 tcctcccatc gatgtgccac gtgggtgtca cgtgtcccag atgcagtatt cggcagccag
     1801 ccggggaggg ctacctcctc ctcctcacca ccttggggct tctcatggga aatgtgcccc
     1861 cgccccagga ccctctccct tgtggacagg cagggagatg catgcgagtg catgcagcag
     1921 gggatggggc cgtgtccgtg tgccccaccc tccctcggct ttactcctgc ccagtgactg
     1981 tgaccactgt ccgtgttgcc ttcttgaaca gcgattcccc ccaacccctt caccaaaggt
     2041 cttggtacaa ccagctgccc attttgtgaa atttttatgt agaataaaca tttgtatctg
     2101 ta
//
