LOCUS       NM_014723               5016 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens syntaphilin (SNPH), transcript variant 2, mRNA.
ACCESSION   NM_014723
VERSION     NM_014723.4
KEYWORDS    RefSeq.
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 5016)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   2  (bases 1 to 5016)
  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   3  (bases 1 to 5016)
  AUTHORS   Hwang,M.J., Bryant,K.G., Seo,J.H., Liu,Q., Humphrey,P.A.,
            Melnick,M.A.C., Altieri,D.C. and Robert,M.E.
  TITLE     Syntaphilin Is a Novel Biphasic Biomarker of Aggressive Prostate
            Cancer and a Metastasis Predictor
  JOURNAL   Am J Pathol 189 (6), 1180-1189 (2019)
   PUBMED   31079810
  REMARK    GeneRIF: These data suggest that SNPH is a novel marker of high
            Gleason grade prostate cancer, differentially expressed at the
            invasive front compared with the central tumor bulk, and is
            potentially down-regulated in metastatic disease.
REFERENCE   4  (bases 1 to 5016)
  AUTHORS   Seo,J.H., Agarwal,E., Bryant,K.G., Caino,M.C., Kim,E.T.,
            Kossenkov,A.V., Tang,H.Y., Languino,L.R., Gabrilovich,D.I.,
            Cohen,A.R., Speicher,D.W. and Altieri,D.C.
  TITLE     Syntaphilin Ubiquitination Regulates Mitochondrial Dynamics and
            Tumor Cell Movements
  JOURNAL   Cancer Res 78 (15), 4215-4228 (2018)
   PUBMED   29898993
  REMARK    GeneRIF: By establishing the role of SNPH ubiquitination.
REFERENCE   5  (bases 1 to 5016)
  AUTHORS   Caino,M.C., Seo,J.H., Wang,Y., Rivadeneira,D.B., Gabrilovich,D.I.,
            Kim,E.T., Weeraratna,A.T., Languino,L.R. and Altieri,D.C.
  TITLE     Syntaphilin controls a mitochondrial rheostat for
            proliferation-motility decisions in cancer
  JOURNAL   J Clin Invest 127 (10), 3755-3769 (2017)
   PUBMED   28891816
  REMARK    GeneRIF: SNPH is a stress-regulated mitochondrial switch of the
            cell proliferation-motility balance in cancer, and its pathway may
            represent a therapeutic target.
REFERENCE   6  (bases 1 to 5016)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 5016)
  AUTHORS   Su,Q., Cai,Q., Gerwin,C., Smith,C.L. and Sheng,Z.H.
  TITLE     Syntabulin is a microtubule-associated protein implicated in
            syntaxin transport in neurons
  JOURNAL   Nat Cell Biol 6 (10), 941-953 (2004)
   PUBMED   15459722
REFERENCE   8  (bases 1 to 5016)
  AUTHORS   Das,S., Gerwin,C. and Sheng,Z.H.
  TITLE     Syntaphilin binds to dynamin-1 and inhibits dynamin-dependent
            endocytosis
  JOURNAL   J Biol Chem 278 (42), 41221-41226 (2003)
   PUBMED   12896979
  REMARK    GeneRIF: syntaphilin is an inhibitor of both SNARE-based fusion and
            dynamin-mediated endocytosis
REFERENCE   9  (bases 1 to 5016)
  AUTHORS   Deloukas,P., Matthews,L.H., Ashurst,J., Burton,J., Gilbert,J.G.,
            Jones,M., Stavrides,G., Almeida,J.P., Babbage,A.K., Bagguley,C.L.,
            Bailey,J., Barlow,K.F., Bates,K.N., Beard,L.M., Beare,D.M.,
            Beasley,O.P., Bird,C.P., Blakey,S.E., Bridgeman,A.M., Brown,A.J.,
            Buck,D., Burrill,W., Butler,A.P., Carder,C., Carter,N.P.,
            Chapman,J.C., Clamp,M., Clark,G., Clark,L.N., Clark,S.Y.,
            Clee,C.M., Clegg,S., Cobley,V.E., Collier,R.E., Connor,R.,
            Corby,N.R., Coulson,A., Coville,G.J., Deadman,R., Dhami,P.,
            Dunn,M., Ellington,A.G., Frankland,J.A., Fraser,A., French,L.,
            Garner,P., Grafham,D.V., Griffiths,C., Griffiths,M.N., Gwilliam,R.,
            Hall,R.E., Hammond,S., Harley,J.L., Heath,P.D., Ho,S., Holden,J.L.,
            Howden,P.J., Huckle,E., Hunt,A.R., Hunt,S.E., Jekosch,K.,
            Johnson,C.M., Johnson,D., Kay,M.P., Kimberley,A.M., King,A.,
            Knights,A., Laird,G.K., Lawlor,S., Lehvaslaiho,M.H., Leversha,M.,
            Lloyd,C., Lloyd,D.M., Lovell,J.D., Marsh,V.L., Martin,S.L.,
            McConnachie,L.J., McLay,K., McMurray,A.A., Milne,S., Mistry,D.,
            Moore,M.J., Mullikin,J.C., Nickerson,T., Oliver,K., Parker,A.,
            Patel,R., Pearce,T.A., Peck,A.I., Phillimore,B.J.,
            Prathalingam,S.R., Plumb,R.W., Ramsay,H., Rice,C.M., Ross,M.T.,
            Scott,C.E., Sehra,H.K., Shownkeen,R., Sims,S., Skuce,C.D.,
            Smith,M.L., Soderlund,C., Steward,C.A., Sulston,J.E., Swann,M.,
            Sycamore,N., Taylor,R., Tee,L., Thomas,D.W., Thorpe,A., Tracey,A.,
            Tromans,A.C., Vaudin,M., Wall,M., Wallis,J.M., Whitehead,S.L.,
            Whittaker,P., Willey,D.L., Williams,L., Williams,S.A., Wilming,L.,
            Wray,P.W., Hubbard,T., Durbin,R.M., Bentley,D.R., Beck,S. and
            Rogers,J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
REFERENCE   10 (bases 1 to 5016)
  AUTHORS   Lao,G., Scheuss,V., Gerwin,C.M., Su,Q., Mochida,S., Rettig,J. and
            Sheng,Z.H.
  TITLE     Syntaphilin: a syntaxin-1 clamp that controls SNARE assembly
  JOURNAL   Neuron 25 (1), 191-201 (2000)
   PUBMED   10707983
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL136531.16.
            
            On May 31, 2019 this sequence version replaced NM_014723.3.
            
            Summary: Syntaxin-1, synaptobrevin/VAMP, and SNAP25 interact to
            form the SNARE complex, which is required for synaptic vesicle
            docking and fusion. The protein encoded by this gene is
            membrane-associated and inhibits SNARE complex formation by binding
            free syntaxin-1. Expression of this gene appears to be
            brain-specific. Alternative splicing results in multiple transcript
            variants encoding different isoforms. [provided by RefSeq, Dec
            2015].
            
            Transcript Variant: This variant (2) contains a distinct 5' UTR and
            lacks an in-frame portion of the 5' coding region, compared to
            variant 1. The resulting isoform (2) has a shorter N-terminus,
            compared to 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 :: BC035788.1, SRR1803613.10516.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-104               AL136531.16        8267-8370
            105-211             AL136531.16        8627-8733
            212-308             AL136531.16        38298-38394
            309-416             AL136531.16        39118-39225
            417-566             AL136531.16        42535-42684
            567-5016            AL136531.16        46851-51300
FEATURES             Location/Qualifiers
     source          1..5016
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p13"
     gene            1..5016
                     /gene="SNPH"
                     /note="syntaphilin"
                     /db_xref="GeneID:9751"
                     /db_xref="HGNC:HGNC:15931"
                     /db_xref="MIM:604942"
     exon            1..104
                     /gene="SNPH"
                     /inference="alignment:Splign:2.1.0"
     exon            105..211
                     /gene="SNPH"
                     /inference="alignment:Splign:2.1.0"
     exon            212..308
                     /gene="SNPH"
                     /inference="alignment:Splign:2.1.0"
     CDS             259..1743
                     /gene="SNPH"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /codon_start=1
                     /product="syntaphilin isoform 2"
                     /protein_id="NP_055538.2"
                     /db_xref="CCDS:CCDS13012.1"
                     /db_xref="GeneID:9751"
                     /db_xref="HGNC:HGNC:15931"
                     /db_xref="MIM:604942"
                     /translation="MAMSLPGSRRTSAGSRRRTSPPVSVRDAYGTSSLSSSSNSGSYK
                     GSDSSPTPRRSMKYTLCSDNHGIKPPTPEQYLTPLQQKEVCIRHLKARLKDTQDRLQD
                     RDTEIDDLKTQLSRMQEDWIEEECHRVEAQLALKEARKEIKQLKQVIDTVKNNLIDKD
                     KGLQKYFVDINIQNKKLETLLHSMEVAQNGMAKEDGTGESAGGSPARSLTRSSTYTKL
                     SDPAVCGDRQPGDPSSGSAEDGADSGFAAADDTLSRTDALEASSLLSSGVDCGTEETS
                     LHSSFGLGPRFPASNTYEKLLCGMEAGVQASCMQERAIQTDFVQYQPDLDTILEKVTQ
                     AQVCGTDPESGDRCPELDAHPSGPRDPNSAVVVTVGDELEAPEPITRGPTPQRPGANP
                     NPGQSVSVVCPMEEEEEAAVAEKEPKSYWSRHYIVDLLAVVVPAVPTVAWLCRSQRRQ
                     GQPIYNISSLLRGCCTVALHSIRRISCRSLSQPSPSPAGGGSQL"
     exon            309..416
                     /gene="SNPH"
                     /inference="alignment:Splign:2.1.0"
     exon            417..566
                     /gene="SNPH"
                     /inference="alignment:Splign:2.1.0"
     exon            567..5016
                     /gene="SNPH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4994..4999
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNPH"
                     /note="hexamer: ATTAAA"
     polyA_site      5016
                     /gene="SNPH"
                     /note="major polyA site"
ORIGIN      
        1 agccccagcc ccggcgagca cccagctagc cgcctcctgc aggggctcgg gagagcaatt
       61 cggcggcccc tgcagggcag ctgaagccat ggaagcctcc gcaggtcgct gatcagggcc
      121 aggcggctgc agcagcgact gcagaggcgc tgcgccaagc cgggccggag tggtgcgagc
      181 cggcggggct gcggagggcc agtggactca gcccccggga taccgcccat cccacccctt
      241 actcggaccc acagcctcat ggccatgtcc ctgccaggaa gtagacggac ctctgctgga
      301 tcacgcaggc gcacctctcc acctgtgagc gtgcgggatg cctacggcac ctcttcgctc
      361 agcagcagca gcaattctgg ctcctacaag ggcagtgaca gcagtcccac gccaaggcgc
      421 tccatgaaat acacgctgtg cagtgacaac catggcatca agcccccgac cccggagcag
      481 tacctgaccc ccctgcagca gaaggaggtg tgcatccggc acctgaaagc ccggctgaag
      541 gacacacagg accggctcca ggaccgggac acagagattg atgacctgaa gacgcagctg
      601 tcacgcatgc aggaggactg gattgaggag gagtgccacc gcgtggaggc ccagctggcc
      661 ctgaaggagg cccgaaagga gatcaagcag ctcaagcagg tcatcgacac tgtcaagaac
      721 aacctgattg acaaggacaa ggggctgcag aagtacttcg tggacatcaa catccagaac
      781 aagaagctgg agacgctgct gcacagcatg gaggtggccc agaatggcat ggccaaggag
      841 gatggcactg gggagtcagc cggtgggtcc cctgcccgct ccctcacccg cagctccacc
      901 tacaccaagc tgagtgaccc ggctgtctgt ggtgaccgcc agccgggtga tccctccagc
      961 ggctctgctg aggatggggc agacagtggc tttgcagcag ccgatgacac actgagccgg
     1021 acggacgcgc tggaagccag cagcctgctg tcgtcggggg tggactgtgg caccgaggag
     1081 acctcgctgc acagctcctt cggcctgggc ccccgcttcc ctgccagcaa cacctatgag
     1141 aagctgctgt gtggcatgga ggctggtgtg caggccagct gcatgcagga gcgtgccatc
     1201 cagacagact tcgtgcagta ccagcctgac cttgacacca tcctggagaa agtgacccag
     1261 gcccaggtct gtgggacaga ccctgagtca ggggacaggt gcccagagct ggatgcccac
     1321 ccttcagggc ccagagaccc caactcagca gtggtggtga cagtgggtga tgagctagag
     1381 gccccagagc ccatcacccg tggacccacc ccacagcggc ctggtgccaa ccccaaccct
     1441 ggccagtcgg tgagcgtggt gtgccccatg gaagaggagg aggaggctgc cgtggctgag
     1501 aaggagccca agagctactg gagccgccac tacatcgtgg atctgctggc tgtggtggtg
     1561 ccggccgtgc ccacggtggc ctggctttgc cgctcccagc ggcgccaggg ccagcccatc
     1621 tacaacatca gctccctgct gcggggctgc tgcactgtgg ccttgcactc catccgcagg
     1681 atcagctgcc gctcgctgag ccagccgagt cccagcccag cgggcggcgg ctcccagctc
     1741 tgagggggcc cattctggca gcggcgcctg cggcctgacc actgattgta gggatgccgt
     1801 tcccccctcc cttctcccat gggcatcatc ttatttattt agttttgggt gtggaactgt
     1861 ttcttttttt caagatgtta aaacagtccc gtggaaggag caggggttgg agaaaggcat
     1921 cccaaagctt cgatggagag cagggaaggg ggacccaagg caggaggtac accagctgga
     1981 caaattgcag ggaggggagg gagcgagggc caacccggcc cctctgtccc cttggctctt
     2041 cagacagggc cagccctgct caggaagtct ctggctgtct tcatgtgggg aagccgggct
     2101 tgagttgccc ataggcccct gccctgcacc atcctgtcca gtgccctgcg cactccatgc
     2161 cgtctcttcc aagccacctt gcccgcagcc caggctcctg ggccagtgct ctctcctcaa
     2221 atggaggcag ccatggcctg aagtgcagat cactgaccca gggctcagag cagaggccag
     2281 aaccactggg ccggccggca ttccagcctc cccagactgc tgcccacctt gggactcagg
     2341 agctcagtca aggccacagg ctggaggaga gacggggctg ggcgcaaggt ggcggagggc
     2401 agtgtgggtt ctgtgtctgt ctgttcatcc caggctttcc cgtcatccct ttcctcttgg
     2461 cacttctggg tgtgtcagtc attattcctg tgaggtagct aagcccggca agctcagtgc
     2521 tggggtagga gggcctgcct gagtcccagc tcccagctgg agaatccacc agcacaagaa
     2581 gaggaggcag gggcagaaac ccaagggggc tcccccagcc ttccaaggtg aggccatctc
     2641 atctgcaggc tgggaggcag ggctggactc aggaacccac agcttactga aaaagccaga
     2701 ggccatgact gcccccagaa acttgccccg agtttctctg gggccctcgg gcccaacttc
     2761 tgctttgcac tatgttcact ttggggttgg ttctcagcca tccaagggtc tccagtgagg
     2821 tggctgcttg ctgtctgaga tgagggttcc taaaccttaa acctctctgc ctctggagga
     2881 gggtggggta ttctggcagg atgaatcgca ggatggcgcg tactgaagcc acgatgttca
     2941 tccaggccaa agcagggtgt cctgggatag gtttcctagg caggggcgtg gcagagcagg
     3001 taggcgccct gcagcctccc tgctcccagc ccaaggccag tcggcctggg aagttcactg
     3061 ccccaactct tttcccggga ccatactgag tcccccagcc acgctgctga cattaccatt
     3121 attattttac caagtaaact cactcctttt cccccacagg ggttacaccc atctggttgt
     3181 cccacccact cttcagaggc taggccccac ctctgggggt tggagggacc ctgtgtctta
     3241 ctcgcccctc tggcctaagg gccactctgg ttatctgcca aggttgcttg ccctcacccc
     3301 aatgctccaa cagccattgc ctaactcatg ggctctgccc ttctgctcgg tgccctccac
     3361 gtgaggcggg gcacctgcat gcactgggag ggggcggctg gcccagccct cggggcagga
     3421 gccccctctg ccacacgctt tgtgcctcca aagctccccc cgccttggtc agggcctcag
     3481 accagccaac ctttgtggaa taagccccag cccagccaaa ccaaacccag atgcctgagg
     3541 cctggctggg gctgcccccg caggacactg tggccatgcc acggaggggg cagtggacaa
     3601 aaccaatcca aagccaagcc gggactggct gcggacccag cctcctgtgc cgcgcactca
     3661 cggagctgcg tagtctcctc agacatagtc aaagctttgc cgagaaaaga aatgtatgaa
     3721 ctatatttga caacataaaa tctctctatt tttcaccact ggaatttagt caagcttcag
     3781 gcccctctgc tcctgtctgt gtcttgcgtc tgtggccttc ctattgtgtc ttgtgttttg
     3841 gtggatgtga cagggctggg gccacagtct actctgtctc tgctgctaga gaagccacct
     3901 gtggaggact gggctgtggt tgggcctgag gcctgtggag gaggtgagtg tagccagcag
     3961 cggccgtcta ctcctgttct ggcctgagac caccggtgtg ggtcacgagg gccctggccc
     4021 acagtgttga gggtcctctc tttcgggggc tctcctgggg ccttcgatgg gcttttcttc
     4081 ttgtcagtgg agggagcagc tccccactca gccctgggac aggccctggg actgtggtgg
     4141 ccggtggccc tggcccagct ctggagtgca tgtgtgtgtg ctcagatccc gcatctatgc
     4201 aaaggtgcag gctgcctgtg aggctccagg cggtggaggt gcggcagctg ctgctcaggt
     4261 gccatgccct gaagaggcag ggtacacatg gggctgggag ggcaaagatg gggcggggcc
     4321 tccccctgag agagctcacc ctccacagtg acccttttcc ttcctgccta atacctcctc
     4381 ccgttgggct gtgacttttc ctcctgccct cagcctctga aacagaaatc tttggggcct
     4441 cccctttccc cagcgtctgg caagagctga tgaggtcctg aggaacagtg tccccaggaa
     4501 ccaccttctg gagcctagcg gccagacgtg gcttctcctg agttctaggg ctcgggccag
     4561 agtggcacta ctgcccggcc agtccaggct caggcaggaa tcggacgctg gggcccgggc
     4621 tctgcacaga gagctgggct tgagtggagt ttattgtaga tttctcccaa ggggatcact
     4681 tagcttctca ctgacacacc cttcccaatt gccacaagcg caggggtatc ttacagcact
     4741 ttggggaggg gtgggacaaa ctgcaaggtt ctggggccaa ggcctaccca ggggcctctg
     4801 cccagagaac tcacaacccc ctctctgacc tgggggacaa tgcaaacagg tcacagtgca
     4861 ttcccatatt aggccatccc cttcacgaag aattcagggg atgtgggaag tggggaggcg
     4921 gggagggatc ttgactcttg tctcctttgt ccttttgttc agacagagtt gtacctgcag
     4981 cagacaactc tgaattaaag catgaaaaca cagcaa
//
