LOCUS       NM_001365977            1437 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens septin 1 (SEPTIN1), transcript variant 1, mRNA.
ACCESSION   NM_001365977
VERSION     NM_001365977.2
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 1437)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (bases 1 to 1437)
  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 1437)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1437)
  AUTHORS   Song,K., Gras,C., Capin,G., Gimber,N., Lehmann,M., Mohd,S.,
            Puchkov,D., Rodiger,M., Wilhelmi,I., Daumke,O., Schmoranzer,J.,
            Schurmann,A. and Krauss,M.
  TITLE     A SEPT1-based scaffold is required for Golgi integrity and function
  JOURNAL   J Cell Sci 132 (3) (2019)
   PUBMED   30709970
  REMARK    GeneRIF: SEPT1 function depends on the Golgi matrix protein GOLGA2
            and on centrosomal proteins, including CEP170 and components of
            gamma-tubulin ring complex, to facilitate the perinuclear
            concentration of Golgi membranes.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1437)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   6  (bases 1 to 1437)
  AUTHORS   Qi,M., Yu,W., Liu,S., Jia,H., Tang,L., Shen,M., Yan,X., Saiyin,H.,
            Lang,Q., Wan,B., Zhao,S. and Yu,L.
  TITLE     Septin1, a new interaction partner for human serine/threonine
            kinase aurora-B
  JOURNAL   Biochem Biophys Res Commun 336 (3), 994-1000 (2005)
   PUBMED   16179162
  REMARK    GeneRIF: Aurora-B binds and phosphorylates Septin1.
REFERENCE   7  (bases 1 to 1437)
  AUTHORS   Hall,P.A., Jung,K., Hillan,K.J. and Russell,S.E.
  TITLE     Expression profiling the human septin gene family
  JOURNAL   J Pathol 206 (3), 269-278 (2005)
   PUBMED   15915442
REFERENCE   8  (bases 1 to 1437)
  AUTHORS   Macara,I.G., Baldarelli,R., Field,C.M., Glotzer,M., Hayashi,Y.,
            Hsu,S.C., Kennedy,M.B., Kinoshita,M., Longtine,M., Low,C.,
            Maltais,L.J., McKenzie,L., Mitchison,T.J., Nishikawa,T., Noda,M.,
            Petty,E.M., Peifer,M., Pringle,J.R., Robinson,P.J., Roth,D.,
            Russell,S.E., Stuhlmann,H., Tanaka,M., Tanaka,T., Trimble,W.S.,
            Ware,J., Zeleznik-Le,N.J. and Zieger,B.
  TITLE     Mammalian septins nomenclature
  JOURNAL   Mol Biol Cell 13 (12), 4111-4113 (2002)
   PUBMED   12475938
REFERENCE   9  (bases 1 to 1437)
  AUTHORS   Kinoshita,A., Kinoshita,M., Akiyama,H., Tomimoto,H., Akiguchi,I.,
            Kumar,S., Noda,M. and Kimura,J.
  TITLE     Identification of septins in neurofibrillary tangles in Alzheimer's
            disease
  JOURNAL   Am J Pathol 153 (5), 1551-1560 (1998)
   PUBMED   9811347
REFERENCE   10 (bases 1 to 1437)
  AUTHORS   Nottenburg,C., Gallatin,W.M. and St John,T.
  TITLE     Lymphocyte HEV adhesion variants differ in the expression of
            multiple gene sequences
  JOURNAL   Gene 95 (2), 279-284 (1990)
   PUBMED   2174398
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BQ072902.1, BC012161.1 and
            BM663465.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001365977.1.
            
            Summary: This gene is a member of the septin family of GTPases.
            Members of this family are required for cytokinesis and the
            maintenance of cellular morphology. This gene encodes a protein
            that can form homo- and heterooligomeric filaments, and may
            contribute to the formation of neurofibrillary tangles in
            Alzheimer's disease. Alternatively spliced transcript variants have
            been found but the full-length nature of these variants has not
            been determined. [provided by RefSeq, Dec 2012].
            
            Transcript Variant: This variant (1) represents transcription from
            an alternate promoter, relative to variant 2, and has a shorter 5'
            UTR than variant 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 :: AY034176.1, BC012161.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000321367.8/ ENSP00000324511.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-25                BQ072902.1         167-191
            26-1435             BC012161.1         1-1410
            1436-1437           BM663465.1         20-21               c
FEATURES             Location/Qualifiers
     source          1..1437
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     gene            1..1437
                     /gene="SEPTIN1"
                     /gene_synonym="DIFF6; LARP; PNUTL3; SEP1; SEPT1; Septin-1"
                     /note="septin 1"
                     /db_xref="GeneID:1731"
                     /db_xref="HGNC:HGNC:2879"
                     /db_xref="MIM:612897"
     exon            1..37
                     /gene="SEPTIN1"
                     /gene_synonym="DIFF6; LARP; PNUTL3; SEP1; SEPT1; Septin-1"
                     /inference="alignment:Splign:2.1.0"
     CDS             20..1138
                     /gene="SEPTIN1"
                     /gene_synonym="DIFF6; LARP; PNUTL3; SEP1; SEPT1; Septin-1"
                     /EC_number="3.1.5.1"
                     /note="differentiation 6 (deoxyguanosine triphosphate
                     triphosphohydrolase); serologically defined breast cancer
                     antigen NY-BR-24; peanut-like protein 3"
                     /codon_start=1
                     /product="septin-1"
                     /protein_id="NP_001352906.1"
                     /db_xref="CCDS:CCDS10678.4"
                     /db_xref="GeneID:1731"
                     /db_xref="HGNC:HGNC:2879"
                     /db_xref="MIM:612897"
                     /translation="MAGGVMDKEYVGFAALPNQLHRKSVKKGFDFTLMVAGESGLGKS
                     TLINSLFLTNLYEDRQVPEASARLTQTLAIERRGVEIEEGGVKVKLTLVDTPGFGDSV
                     DCSDCWLPVVKFIEEQFEQYLRDESGLNRKNIQDSRVHCCLYFISPFGRGLRPLDVAF
                     LRAVHEKVNIIPVIGKADALMPQETQALKQKIRDQLKEEEIHIYQFPECDSDEDEDFK
                     RQDAEMKESIPFAVVGSCEVVRDGGNRPVRGRRYSWGTVEVENPHHCDFLNLRRMLVQ
                     THLQDLKEVTHDLLYEGYRARCLQSLARPGARDRASRSKLSRQSATEIPLPMLPLADT
                     EKLIREKDEELRRMQEMLEKMQAQMQQSQAQGEQSDAL"
     exon            38..128
                     /gene="SEPTIN1"
                     /gene_synonym="DIFF6; LARP; PNUTL3; SEP1; SEPT1; Septin-1"
                     /inference="alignment:Splign:2.1.0"
     exon            129..215
                     /gene="SEPTIN1"
                     /gene_synonym="DIFF6; LARP; PNUTL3; SEP1; SEPT1; Septin-1"
                     /inference="alignment:Splign:2.1.0"
     exon            216..339
                     /gene="SEPTIN1"
                     /gene_synonym="DIFF6; LARP; PNUTL3; SEP1; SEPT1; Septin-1"
                     /inference="alignment:Splign:2.1.0"
     exon            340..474
                     /gene="SEPTIN1"
                     /gene_synonym="DIFF6; LARP; PNUTL3; SEP1; SEPT1; Septin-1"
                     /inference="alignment:Splign:2.1.0"
     exon            475..592
                     /gene="SEPTIN1"
                     /gene_synonym="DIFF6; LARP; PNUTL3; SEP1; SEPT1; Septin-1"
                     /inference="alignment:Splign:2.1.0"
     exon            593..694
                     /gene="SEPTIN1"
                     /gene_synonym="DIFF6; LARP; PNUTL3; SEP1; SEPT1; Septin-1"
                     /inference="alignment:Splign:2.1.0"
     exon            695..794
                     /gene="SEPTIN1"
                     /gene_synonym="DIFF6; LARP; PNUTL3; SEP1; SEPT1; Septin-1"
                     /inference="alignment:Splign:2.1.0"
     exon            795..960
                     /gene="SEPTIN1"
                     /gene_synonym="DIFF6; LARP; PNUTL3; SEP1; SEPT1; Septin-1"
                     /inference="alignment:Splign:2.1.0"
     exon            961..1051
                     /gene="SEPTIN1"
                     /gene_synonym="DIFF6; LARP; PNUTL3; SEP1; SEPT1; Septin-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1052..1437
                     /gene="SEPTIN1"
                     /gene_synonym="DIFF6; LARP; PNUTL3; SEP1; SEPT1; Septin-1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1412..1417
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SEPTIN1"
                     /gene_synonym="DIFF6; LARP; PNUTL3; SEP1; SEPT1; Septin-1"
                     /note="hexamer: AATAAA"
     polyA_site      1419
                     /gene="SEPTIN1"
                     /gene_synonym="DIFF6; LARP; PNUTL3; SEP1; SEPT1; Septin-1"
     polyA_site      1437
                     /gene="SEPTIN1"
                     /gene_synonym="DIFF6; LARP; PNUTL3; SEP1; SEPT1; Septin-1"
                     /note="major polyA site"
ORIGIN      
        1 agagacggca ggtgcagtga tggctggcgg agtcatggac aaggagtacg tgggttttgc
       61 tgccctcccc aaccagctgc accgcaagtc tgtcaagaag gggtttgact tcacgctaat
      121 ggtggcaggg gagtcaggcc tagggaaatc caccctcatc aacagcctct tcctcaccaa
      181 cctctatgag gatcgccagg tgccagaggc cagtgctcgc ttgacacaga ccctggccat
      241 tgagcgccgg ggcgtagaga ttgaggaagg gggtgtgaaa gtgaagctga cccttgtgga
      301 cacacctggc tttggggact cagtggactg ctctgactgc tggcttccgg tggtgaaatt
      361 catcgaggag caatttgagc agtaccttag ggatgagagt ggcctgaacc ggaagaacat
      421 ccaggactcc cgagtccact gctgcctcta cttcatctca cccttcggcc gggggctccg
      481 gcccctagat gtggccttcc tccgggcagt acacgagaaa gtcaacatca tcccagtcat
      541 tggcaaagcg gatgctctga tgccccagga aacccaggcc ctcaagcaga agatccggga
      601 tcagttgaag gaagaggaga tccacatcta ccagttcccc gaatgtgact ctgatgaaga
      661 tgaagacttc aagaggcagg atgcagagat gaaggaaagc atcccttttg cagtcgtggg
      721 atcatgcgag gtggtgaggg atggcgggaa ccggccggtg aggggacgcc gctactcctg
      781 ggggaccgtg gaggtggaga acccacatca ctgcgatttc ctgaacctgc gacggatgct
      841 ggtgcagaca cacctgcagg acctgaaaga ggtgacgcac gatctgctct acgagggcta
      901 ccgggcccgc tgcctacaga gcctggcccg gcctggggct cgcgatcgag ccagccgcag
      961 taagctttcc cgccagagcg ccacagagat cccgctgccc atgctgcctc tggcggacac
     1021 cgagaagctg atccgcgaga aagacgaaga gctgcgccgc atgcaagaga tgctggagaa
     1081 gatgcaggcc caaatgcagc agagccaggc ccagggcgag cagtcagacg ccctctgagg
     1141 ccacgccccg cccggcctta cctcggctcc gccttcagtc ggcctcttgt ccaatccccg
     1201 cgccccacac tgcccagcgc cccccgggac ctccgcgggt gccgccctcg cgcgggctag
     1261 ggggaggttc tcccagcctg agtccgtagc cccgccccgg cgctggtccc gcccacccag
     1321 acaccgccca cttcccggcc cggggcctgc acaatctccg accgcatcac tgtcttccgg
     1381 agtccccctt cttctcccag actctgtctt caataaaaac tgagcttccc gcggcca
//
