LOCUS       NM_002688               2031 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens septin 5 (SEPTIN5), transcript variant 1, mRNA.
ACCESSION   NM_002688
VERSION     NM_002688.6
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 2031)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   2  (bases 1 to 2031)
  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   3  (bases 1 to 2031)
  AUTHORS   Marttinen,M., Ferreira,C.B., Paldanius,K.M.A., Takalo,M.,
            Natunen,T., Makinen,P., Leppanen,L., Leinonen,V., Tanigaki,K.,
            Kang,G., Hiroi,N., Soininen,H., Rilla,K., Haapasalo,A. and
            Hiltunen,M.
  TITLE     Presynaptic Vesicle Protein SEPTIN5 Regulates the Degradation of
            APP C-Terminal Fragments and the Levels of Abeta
  JOURNAL   Cells 9 (11), 2482 (2020)
   PUBMED   33203136
  REMARK    GeneRIF: Presynaptic Vesicle Protein SEPTIN5 Regulates the
            Degradation of APP C-Terminal Fragments and the Levels of Abeta.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2031)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 2031)
  AUTHORS   Caltagarone,J., Rhodes,J., Honer,W.G. and Bowser,R.
  TITLE     Localization of a novel septin protein, hCDCrel-1, in neurons of
            human brain
  JOURNAL   Neuroreport 9 (12), 2907-2912 (1998)
   PUBMED   9760144
REFERENCE   6  (bases 1 to 2031)
  AUTHORS   Yagi,M., Zieger,B., Roth,G.J. and Ware,J.
  TITLE     Structure and expression of the human septin gene HCDCREL-1
  JOURNAL   Gene 212 (2), 229-236 (1998)
   PUBMED   9611266
REFERENCE   7  (bases 1 to 2031)
  AUTHORS   Hsu,S.C., Hazuka,C.D., Roth,R., Foletti,D.L., Heuser,J. and
            Scheller,R.H.
  TITLE     Subunit composition, protein interactions, and structures of the
            mammalian brain sec6/8 complex and septin filaments
  JOURNAL   Neuron 20 (6), 1111-1122 (1998)
   PUBMED   9655500
REFERENCE   8  (bases 1 to 2031)
  AUTHORS   Megonigal,M.D., Rappaport,E.F., Jones,D.H., Williams,T.M.,
            Lovett,B.D., Kelly,K.M., Lerou,P.H., Moulton,T., Budarf,M.L. and
            Felix,C.A.
  TITLE     t(11;22)(q23;q11.2) In acute myeloid leukemia of infant twins fuses
            MLL with hCDCrel, a cell division cycle gene in the genomic region
            of deletion in DiGeorge and velocardiofacial syndromes
  JOURNAL   Proc Natl Acad Sci U S A 95 (11), 6413-6418 (1998)
   PUBMED   9600980
  REMARK    Erratum:[Proc Natl Acad Sci U S A 1998 Aug 18;95(17):10344]
REFERENCE   9  (bases 1 to 2031)
  AUTHORS   McKie,J.M., Sutherland,H.F., Harvey,E., Kim,U.J. and Scambler,P.J.
  TITLE     A human gene similar to Drosophila melanogaster peanut maps to the
            DiGeorge syndrome region of 22q11
  JOURNAL   Hum Genet 101 (1), 6-12 (1997)
   PUBMED   9385360
REFERENCE   10 (bases 1 to 2031)
  AUTHORS   Zieger,B., Hashimoto,Y. and Ware,J.
  TITLE     Alternative expression of platelet glycoprotein Ib(beta) mRNA from
            an adjacent 5' gene with an imperfect polyadenylation signal
            sequence
  JOURNAL   J Clin Invest 99 (3), 520-525 (1997)
   PUBMED   9022087
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC025261.1.
            
            On Nov 22, 2018 this sequence version replaced NM_002688.5.
            
            Summary: This gene is a member of the septin gene family of
            nucleotide binding proteins, originally described in yeast as cell
            division cycle regulatory proteins. Septins are highly conserved in
            yeast, Drosophila, and mouse and appear to regulate cytoskeletal
            organization. Disruption of septin function disturbs cytokinesis
            and results in large multinucleate or polyploid cells. This gene is
            mapped to 22q11, the region frequently deleted in DiGeorge and
            velocardiofacial syndromes. A translocation involving the MLL gene
            and this gene has also been reported in patients with acute myeloid
            leukemia. Alternative splicing results in multiple transcript
            variants. The presence of a non-consensus polyA signal (AACAAT) in
            this gene also results in read-through transcription into the
            downstream neighboring gene (GP1BB; platelet glycoprotein Ib),
            whereby larger, non-coding transcripts are produced. [provided by
            RefSeq, Dec 2010].
            
            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 :: BC025261.1, U74628.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000455784.7/ ENSP00000391311.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2031              BC025261.1         4-2034
FEATURES             Location/Qualifiers
     source          1..2031
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.21"
     gene            1..2031
                     /gene="SEPTIN5"
                     /gene_synonym="CDCREL; CDCREL-1; CDCREL1; H5; HCDCREL-1;
                     PNUTL1; SEPT5; Septin-5"
                     /note="septin 5"
                     /db_xref="GeneID:5413"
                     /db_xref="HGNC:HGNC:9164"
                     /db_xref="MIM:602724"
     exon            1..129
                     /gene="SEPTIN5"
                     /gene_synonym="CDCREL; CDCREL-1; CDCREL1; H5; HCDCREL-1;
                     PNUTL1; SEPT5; Septin-5"
                     /inference="alignment:Splign:2.1.0"
     CDS             87..1196
                     /gene="SEPTIN5"
                     /gene_synonym="CDCREL; CDCREL-1; CDCREL1; H5; HCDCREL-1;
                     PNUTL1; SEPT5; Septin-5"
                     /EC_number="3.1.5.1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     peanut-like 1; cell division control related protein 1;
                     platelet glycoprotein Ib beta chain"
                     /codon_start=1
                     /product="septin-5 isoform 1"
                     /protein_id="NP_002679.2"
                     /db_xref="CCDS:CCDS13764.1"
                     /db_xref="GeneID:5413"
                     /db_xref="HGNC:HGNC:9164"
                     /db_xref="MIM:602724"
                     /translation="MSTGLRYKSKLATPEDKQDIDKQYVGFATLPNQVHRKSVKKGFD
                     FTLMVAGESGLGKSTLVHSLFLTDLYKDRKLLSAEERISQTVEILKHTVDIEEKGVKL
                     KLTIVDTPGFGDAVNNTECWKPITDYVDQQFEQYFRDESGLNRKNIQDNRVHCCLYFI
                     SPFGHGLRPVDVGFMKALHEKVNIVPLIAKADCLVPSEIRKLKERIREEIDKFGIHVY
                     QFPECDSDEDEDFKQQDRELKESAPFAVIGSNTVVEAKGQRVRGRLYPWGIVEVENQA
                     HCDFVKLRNMLIRTHMHDLKDVTCDVHYENYRAHCIQQMTSKLTQDSRMESPIPILPL
                     PTPDAETEKLIRMKDEELRRMQEMLQRMKQQMQDQ"
     exon            130..140
                     /gene="SEPTIN5"
                     /gene_synonym="CDCREL; CDCREL-1; CDCREL1; H5; HCDCREL-1;
                     PNUTL1; SEPT5; Septin-5"
                     /inference="alignment:Splign:2.1.0"
     exon            141..237
                     /gene="SEPTIN5"
                     /gene_synonym="CDCREL; CDCREL-1; CDCREL1; H5; HCDCREL-1;
                     PNUTL1; SEPT5; Septin-5"
                     /inference="alignment:Splign:2.1.0"
     exon            238..324
                     /gene="SEPTIN5"
                     /gene_synonym="CDCREL; CDCREL-1; CDCREL1; H5; HCDCREL-1;
                     PNUTL1; SEPT5; Septin-5"
                     /inference="alignment:Splign:2.1.0"
     exon            325..448
                     /gene="SEPTIN5"
                     /gene_synonym="CDCREL; CDCREL-1; CDCREL1; H5; HCDCREL-1;
                     PNUTL1; SEPT5; Septin-5"
                     /inference="alignment:Splign:2.1.0"
     exon            449..583
                     /gene="SEPTIN5"
                     /gene_synonym="CDCREL; CDCREL-1; CDCREL1; H5; HCDCREL-1;
                     PNUTL1; SEPT5; Septin-5"
                     /inference="alignment:Splign:2.1.0"
     exon            584..701
                     /gene="SEPTIN5"
                     /gene_synonym="CDCREL; CDCREL-1; CDCREL1; H5; HCDCREL-1;
                     PNUTL1; SEPT5; Septin-5"
                     /inference="alignment:Splign:2.1.0"
     exon            702..803
                     /gene="SEPTIN5"
                     /gene_synonym="CDCREL; CDCREL-1; CDCREL1; H5; HCDCREL-1;
                     PNUTL1; SEPT5; Septin-5"
                     /inference="alignment:Splign:2.1.0"
     exon            804..900
                     /gene="SEPTIN5"
                     /gene_synonym="CDCREL; CDCREL-1; CDCREL1; H5; HCDCREL-1;
                     PNUTL1; SEPT5; Septin-5"
                     /inference="alignment:Splign:2.1.0"
     exon            901..1036
                     /gene="SEPTIN5"
                     /gene_synonym="CDCREL; CDCREL-1; CDCREL1; H5; HCDCREL-1;
                     PNUTL1; SEPT5; Septin-5"
                     /inference="alignment:Splign:2.1.0"
     exon            1037..1139
                     /gene="SEPTIN5"
                     /gene_synonym="CDCREL; CDCREL-1; CDCREL1; H5; HCDCREL-1;
                     PNUTL1; SEPT5; Septin-5"
                     /inference="alignment:Splign:2.1.0"
     exon            1140..2031
                     /gene="SEPTIN5"
                     /gene_synonym="CDCREL; CDCREL-1; CDCREL1; H5; HCDCREL-1;
                     PNUTL1; SEPT5; Septin-5"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      2031
                     /gene="SEPTIN5"
                     /gene_synonym="CDCREL; CDCREL-1; CDCREL1; H5; HCDCREL-1;
                     PNUTL1; SEPT5; Septin-5"
                     /note="major polyA site"
ORIGIN      
        1 accccgcagc ccggcctcgg cctccgccgc ttgtcgtcgc gccccgcccg cgagcccgcc
       61 ccgcacgtcc cccgccggcg gccaccatga gcacaggcct gcggtacaag agcaagctgg
      121 cgaccccaga ggacaagcag gacattgaca agcagtacgt gggcttcgcc acactgccca
      181 accaggtgca ccgcaagtcg gtgaagaaag gctttgactt cacactcatg gtggctggtg
      241 agtcaggcct ggggaagtcc acactggtcc acagcctctt cctgacagac ttgtacaagg
      301 accggaagct gctcagtgct gaggagcgca tcagccagac ggtagagatt ctaaaacaca
      361 cggtggacat tgaggagaag ggagtcaagc tgaagctcac catcgtggac acgccgggat
      421 tcggggacgc tgtcaacaac accgagtgct ggaagcccat caccgactat gtggaccagc
      481 agtttgagca gtacttccgt gatgagagcg gcctcaaccg aaagaacatc caagacaacc
      541 gagtgcactg ctgcctatac ttcatctccc ccttcgggca tgggctgcgg ccagtggatg
      601 tgggtttcat gaaggcattg catgagaagg tcaacatcgt gcctctcatc gccaaagctg
      661 actgtcttgt ccccagtgag atccggaagc tgaaggagcg gatccgggag gagattgaca
      721 agtttgggat ccatgtatac cagttccctg agtgtgactc ggacgaggat gaggacttca
      781 agcagcagga ccgggaactg aaggagagcg cgcccttcgc cgttataggc agcaacacgg
      841 tggtggaggc caaggggcag cgggtccggg gccgactgta cccctggggg atcgtggagg
      901 tggagaacca ggcgcattgc gacttcgtga agctgcgcaa catgctcatc cgcacgcata
      961 tgcacgacct caaggacgtg acgtgcgacg tgcactacga gaactaccgc gcgcactgca
     1021 tccagcagat gaccagcaaa ctgacccagg acagccgcat ggagagcccc atcccgatcc
     1081 tgccgctgcc caccccggac gccgagactg agaagcttat caggatgaag gatgaggaac
     1141 tgaggcgcat gcaggagatg ctgcagagga tgaagcagca gatgcaggac cagtgacgct
     1201 cgccgcggac acaccgtccg tctccgggac gccctcgcac ccctggacac cagaccggac
     1261 tgttcccgac ccggagacgc ggggccacag cccccagctg accctaattt attctcagca
     1321 ccaccccctc ccaggtcatt gtgtctgttt ccgaggggcc tggaccgtag cccccgccca
     1381 gctggccctc tctgaccttg ggggatcagg agcgaagttg ggcgggactt cagagatccg
     1441 cctcccttgc ccttcccccg cccccggacg gtcacagcac ccaaaccgca ggccctgctc
     1501 tggcaggcag gcaaagctag gcagaagagg attcccagga tcctgggtct gttccctgcc
     1561 ccagtgctgc agaacggact tgggagccct cctttgcctg ctcccgcggg tcacccagcg
     1621 agtgctgaga ccccattttc tgtcgaggcg ggccgagtct tcccttatcc ccagacgcct
     1681 agcgggcagg gttgggctga atcaaatggg agccctccag acataaggag gccagaggct
     1741 gcaaggagcg gggtcgtgac cgcttacacc ccttctccac agcccggccc gacctggagg
     1801 gcccccgggg cactgggcgg tgagccacct cctggcaact ctcggtgccg tcccctgccc
     1861 tcgctcgagg cctcttctcc ccagcaccgc tgtggtgtgc cgggatcctg agcctaggcc
     1921 tcccgatgtt cccacccgca tgatcccttc ccgccacacg atgctccgtt ttcttccgtt
     1981 gtgaatgccg cgtcctgtcc tggtgacagg agaacaatgt tggtgaacgt c
//
