LOCUS       NM_001113491            3733 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens septin 9 (SEPTIN9), transcript variant 1, mRNA.
ACCESSION   NM_001113491
VERSION     NM_001113491.2
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 3733)
  AUTHORS   Wang,W., Zhang,X., Gui,P., Zou,Q., Nie,Y., Ma,S. and Zhang,S.
  TITLE     SEPT9: From pan-cancer to lung squamous cell carcinoma
  JOURNAL   BMC Cancer 24 (1), 1105 (2024)
   PUBMED   39237897
  REMARK    GeneRIF: SEPT9: From pan-cancer to lung squamous cell carcinoma.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3733)
  AUTHORS   Yan,Z., Liu,H. and Wang,K.
  TITLE     Diagnostic efficacy of SEPT9 and PAX5 gene methylation in
            gastrointestinal cancer and precancerous lesions
  JOURNAL   Cell Mol Biol (Noisy-le-grand) 70 (7), 128-133 (2024)
   PUBMED   39097885
  REMARK    GeneRIF: Diagnostic efficacy of SEPT9 and PAX5 gene methylation in
            gastrointestinal cancer and precancerous lesions.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3733)
  AUTHORS   Hecht,M., Alber,N., Marhoffer,P., Johnsson,N. and Gronemeyer,T.
  TITLE     The concerted action of SEPT9 and EPLIN modulates the adhesion and
            migration of human fibroblasts
  JOURNAL   Life Sci Alliance 7 (7), e202201686 (2024)
   PUBMED   38719752
  REMARK    GeneRIF: The concerted action of SEPT9 and EPLIN modulates the
            adhesion and migration of human fibroblasts.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3733)
  AUTHORS   McDade,S.S., Hall,P.A. and Russell,S.E.
  TITLE     Translational control of SEPT9 isoforms is perturbed in disease
  JOURNAL   Hum Mol Genet 16 (7), 742-752 (2007)
   PUBMED   17468182
REFERENCE   5  (bases 1 to 3733)
  AUTHORS   Burrows,J.F., Chanduloy,S., McIlhatton,M.A., Nagar,H., Yeates,K.,
            Donaghy,P., Price,J., Godwin,A.K., Johnston,P.G. and Russell,S.E.
  TITLE     Altered expression of the septin gene, SEPT9, in ovarian neoplasia
  JOURNAL   J Pathol 201 (4), 581-588 (2003)
   PUBMED   14648661
REFERENCE   6  (bases 1 to 3733)
  AUTHORS   McIlhatton,M.A., Burrows,J.F., Donaghy,P.G., Chanduloy,S.,
            Johnston,P.G. and Russell,S.E.
  TITLE     Genomic organization, complex splicing pattern and expression of a
            human septin gene on chromosome 17q25.3
  JOURNAL   Oncogene 20 (41), 5930-5939 (2001)
   PUBMED   11593400
  REMARK    GeneRIF: Describes alternative splicing of this gene.
REFERENCE   7  (bases 1 to 3733)
  AUTHORS   Taki,T., Ohnishi,H., Shinohara,K., Sako,M., Bessho,F.,
            Yanagisawa,M. and Hayashi,Y.
  TITLE     AF17q25, a putative septin family gene, fuses the MLL gene in acute
            myeloid leukemia with t(11;17)(q23;q25)
  JOURNAL   Cancer Res 59 (17), 4261-4265 (1999)
   PUBMED   10485469
REFERENCE   8  (bases 1 to 3733)
  AUTHORS   Osaka,M., Rowley,J.D. and Zeleznik-Le,N.J.
  TITLE     MSF (MLL septin-like fusion), a fusion partner gene of MLL, in a
            therapy-related acute myeloid leukemia with a t(11;17)(q23;q25)
  JOURNAL   Proc Natl Acad Sci U S A 96 (11), 6428-6433 (1999)
   PUBMED   10339604
REFERENCE   9  (bases 1 to 3733)
  AUTHORS   Pellegrino,J.E., George,R.A., Biegel,J., Farlow,M.R., Gardner,K.,
            Caress,J., Brown,M.J., Rebbeck,T.R., Bird,T.D. and Chance,P.F.
  TITLE     Hereditary neuralgic amyotrophy: evidence for genetic homogeneity
            and mapping to chromosome 17q25
  JOURNAL   Hum Genet 101 (3), 277-283 (1997)
   PUBMED   9439655
REFERENCE   10 (bases 1 to 3733)
  AUTHORS   van Alfen,N., Hannibal,M.C., Chance,P.F. and van Engelen,B.G.M.
  TITLE     Hereditary Neuralgic Amyotrophy - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301569
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC068594.15, AC111182.21 and
            AC111170.11.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 29, 2018 this sequence version replaced NM_001113491.1.
            
            Summary: This gene is a member of the septin family involved in
            cytokinesis and cell cycle control. This gene is a candidate for
            the ovarian tumor suppressor gene. Mutations in this gene cause
            hereditary neuralgic amyotrophy, also known as neuritis with
            brachial predilection. A chromosomal translocation involving this
            gene on chromosome 17 and the MLL gene on chromosome 11 results in
            acute myelomonocytic leukemia. Multiple alternatively spliced
            transcript variants encoding different isoforms have been
            described.[provided by RefSeq, Mar 2009].
            
            Transcript Variant: This variant (1, also known as epsilon) encodes
            the longest isoform (a).
            
            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 :: AF189713.3, SRR14038197.1467570.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000427177.6/ ENSP00000391249.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-56                AC068594.15        150674-150729
            57-113              AC111182.21        56692-56748
            114-758             AC111182.21        151610-152254
            759-950             AC111170.11        119714-119905
            951-1079            AC111170.11        124994-125122
            1080-1161           AC111170.11        125810-125891
            1162-1299           AC111170.11        126297-126434
            1300-1417           AC111170.11        128312-128429
            1418-1513           AC111170.11        130191-130286
            1514-1610           AC111170.11        130550-130646
            1611-1662           AC111170.11        134885-134936
            1663-3733           AC111170.11        136093-138163
FEATURES             Location/Qualifiers
     source          1..3733
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     gene            1..3733
                     /gene="SEPTIN9"
                     /gene_synonym="AF17q25; MSF; MSF1; NAPB; PNUTL4; SEPT9;
                     SeptD1; SINT1"
                     /note="septin 9"
                     /db_xref="GeneID:10801"
                     /db_xref="HGNC:HGNC:7323"
                     /db_xref="MIM:604061"
     exon            1..56
                     /gene="SEPTIN9"
                     /gene_synonym="AF17q25; MSF; MSF1; NAPB; PNUTL4; SEPT9;
                     SeptD1; SINT1"
                     /inference="alignment:Splign:2.1.0"
     CDS             38..1798
                     /gene="SEPTIN9"
                     /gene_synonym="AF17q25; MSF; MSF1; NAPB; PNUTL4; SEPT9;
                     SeptD1; SINT1"
                     /note="isoform a is encoded by transcript variant 1;
                     septin D1; ovarian/breast septin; Ov/Br septin; MLL
                     septin-like fusion protein MSF-A; peanut-like 4"
                     /codon_start=1
                     /product="septin-9 isoform a"
                     /protein_id="NP_001106963.1"
                     /db_xref="CCDS:CCDS45790.1"
                     /db_xref="GeneID:10801"
                     /db_xref="HGNC:HGNC:7323"
                     /db_xref="MIM:604061"
                     /translation="MKKSYSGGTRTSSGRLRRLGDSSGPALKRSFEVEEVETPNSTPP
                     RRVQTPLLRATVASSTQKFQDLGVKNSEPSARHVDSLSQRSPKASLRRVELSGPKAAE
                     PVSRRTELSIDISSKQVENAGAIGPSRFGLKRAEVLGHKTPEPAPRRTEITIVKPQES
                     AHRRMEPPASKVPEVPTAPATDAAPKRVEIQMPKPAEAPTAPSPAQTLENSEPAPVSQ
                     LQSRLEPKPQPPVAEATPRSQEATEAAPSCVGDMADTPRDAGLKQAPASRNEKAPVDF
                     GYVGIDSILEQMRRKAMKQGFEFNIMVVGQSGLGKSTLINTLFKSKISRKSVQPTSEE
                     RIPKTIEIKSITHDIEEKGVRMKLTVIDTPGFGDHINNENCWQPIMKFINDQYEKYLQ
                     EEVNINRKKRIPDTRVHCCLYFIPATGHSLRPLDIEFMKRLSKVVNIVPVIAKADTLT
                     LEERVHFKQRITADLLSNGIDVYPQKEFDEDSEDRLVNEKFREMIPFAVVGSDHEYQV
                     NGKRILGRKTKWGTIEVENTTHCEFAYLRDLLIRTHMQNIKDITSSIHFEAYRVKRLN
                     EGSSAMANGMEEKEPEAPEM"
     exon            57..113
                     /gene="SEPTIN9"
                     /gene_synonym="AF17q25; MSF; MSF1; NAPB; PNUTL4; SEPT9;
                     SeptD1; SINT1"
                     /inference="alignment:Splign:2.1.0"
     exon            114..758
                     /gene="SEPTIN9"
                     /gene_synonym="AF17q25; MSF; MSF1; NAPB; PNUTL4; SEPT9;
                     SeptD1; SINT1"
                     /inference="alignment:Splign:2.1.0"
     exon            759..950
                     /gene="SEPTIN9"
                     /gene_synonym="AF17q25; MSF; MSF1; NAPB; PNUTL4; SEPT9;
                     SeptD1; SINT1"
                     /inference="alignment:Splign:2.1.0"
     exon            951..1079
                     /gene="SEPTIN9"
                     /gene_synonym="AF17q25; MSF; MSF1; NAPB; PNUTL4; SEPT9;
                     SeptD1; SINT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1080..1161
                     /gene="SEPTIN9"
                     /gene_synonym="AF17q25; MSF; MSF1; NAPB; PNUTL4; SEPT9;
                     SeptD1; SINT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1162..1299
                     /gene="SEPTIN9"
                     /gene_synonym="AF17q25; MSF; MSF1; NAPB; PNUTL4; SEPT9;
                     SeptD1; SINT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1300..1417
                     /gene="SEPTIN9"
                     /gene_synonym="AF17q25; MSF; MSF1; NAPB; PNUTL4; SEPT9;
                     SeptD1; SINT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1418..1513
                     /gene="SEPTIN9"
                     /gene_synonym="AF17q25; MSF; MSF1; NAPB; PNUTL4; SEPT9;
                     SeptD1; SINT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1514..1610
                     /gene="SEPTIN9"
                     /gene_synonym="AF17q25; MSF; MSF1; NAPB; PNUTL4; SEPT9;
                     SeptD1; SINT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1611..1662
                     /gene="SEPTIN9"
                     /gene_synonym="AF17q25; MSF; MSF1; NAPB; PNUTL4; SEPT9;
                     SeptD1; SINT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1663..3733
                     /gene="SEPTIN9"
                     /gene_synonym="AF17q25; MSF; MSF1; NAPB; PNUTL4; SEPT9;
                     SeptD1; SINT1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3707..3712
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SEPTIN9"
                     /gene_synonym="AF17q25; MSF; MSF1; NAPB; PNUTL4; SEPT9;
                     SeptD1; SINT1"
                     /note="hexamer: AATAAA"
     polyA_site      3733
                     /gene="SEPTIN9"
                     /gene_synonym="AF17q25; MSF; MSF1; NAPB; PNUTL4; SEPT9;
                     SeptD1; SINT1"
                     /note="major polyA site"
ORIGIN      
        1 gccacacttt cctgggagcg gcggccacgg aggcaccatg aagaagtctt actcaggagg
       61 cacgcggacc tccagtggcc ggctccggag gcttggtgac tccagtggcc cagccttgaa
      121 aagatctttt gaggtcgagg aggtcgagac acccaactcc accccacccc ggagggtcca
      181 gactccccta ctccgagcca ctgtggccag ctccacccag aaattccagg acctgggcgt
      241 gaagaactca gaaccctcgg cccgccatgt ggactcccta agccaacgct cccccaaggc
      301 gtccctgcgg agggtggagc tctcgggccc caaggcggcc gagccggtgt cccggcgcac
      361 tgagctgtcc attgacatct cgtccaagca ggtggagaac gccggggcca tcggcccgtc
      421 ccggttcggg ctcaagaggg ccgaggtgtt gggccacaag acgccagaac cggcccctcg
      481 gaggacggag atcaccatcg tcaaacccca ggagtcagcc caccggagga tggagccccc
      541 tgcctccaag gtccccgagg tgcccactgc ccctgccacc gacgcagccc ccaagagggt
      601 ggagatccag atgcccaagc ctgctgaggc gcccaccgcc cccagcccag cccagacctt
      661 ggagaattca gagcctgccc ctgtgtctca gctgcagagc aggctggagc ccaagcccca
      721 gccccctgtg gctgaggcta caccccggag ccaggaggcc actgaggcgg ctcccagctg
      781 cgttggcgac atggccgaca cccccagaga tgccgggctc aagcaggcgc ctgcatcacg
      841 gaacgagaag gccccggtgg acttcggcta cgtggggatt gactccatcc tggagcagat
      901 gcgccggaag gccatgaagc agggcttcga gttcaacatc atggtggtcg ggcagagcgg
      961 cttgggtaaa tccaccttaa tcaacaccct cttcaaatcc aaaatcagcc ggaagtcggt
     1021 gcagcccacc tcagaggagc gcatccccaa gaccatcgag atcaagtcca tcacgcacga
     1081 tattgaggag aaaggcgtcc ggatgaagct gacagtgatt gacacaccag ggttcgggga
     1141 ccacatcaac aacgagaact gctggcagcc catcatgaag ttcatcaatg accagtacga
     1201 gaaatacctg caggaggagg tcaacatcaa ccgcaagaag cgcatcccgg acacccgcgt
     1261 ccactgctgc ctctacttca tccccgccac cggccactcc ctcaggcccc tggacatcga
     1321 gtttatgaaa cgcctgagca aggtggtcaa catcgtccct gtcatcgcca aggcggacac
     1381 actcaccctg gaggagaggg tccacttcaa acagcggatc accgcagacc tgctgtccaa
     1441 cggcatcgac gtgtaccccc agaaggaatt tgatgaggac tcggaggacc ggctggtgaa
     1501 cgagaagttc cgggagatga tcccatttgc tgtggtgggc agtgaccacg agtaccaggt
     1561 caacggcaag aggatccttg ggaggaagac caagtggggt accatcgaag ttgaaaacac
     1621 cacacactgt gagtttgcct acctgcggga ccttctcatc aggacgcaca tgcagaacat
     1681 caaggacatc accagcagca tccacttcga ggcgtaccgt gtgaagcgcc tcaacgaggg
     1741 cagcagcgcc atggccaacg gcatggagga gaaggagcca gaagccccgg agatgtagac
     1801 gccaccctgc ccacccccgg gatcctgccc ccaagtcatt tccgtccccc cccaggccct
     1861 cccaccaccc cattttattt tatatgattt tctccatttg tcatcgttcc ccaccccttc
     1921 gacatgctgc caggaaacaa gggaaggggc ctccctccga gtgagtcagt gatgaggccg
     1981 cggcctcccc gaggttgtgg ggaggctgca ctggagccac aggcaggggt gagagcaccc
     2041 actgaattga catgaccctc tgtccccagg cctggctccc cgagggctca gaagagcagc
     2101 ttcggtgtgc agatcatccg tctgtgtggg gttctcagtg ccggaggcct tggggtgggg
     2161 gccaggcctc gcacttgcag aggagcccag tgggctgcac gctcccctcc atccccatcg
     2221 gccctgtccc ctggagtgtg tcagagccca ggggagaatg cagcccacca ggagcacctg
     2281 gaccccctgc ccgccacatg gtgtggccat cactcagccc ctacccctgc cctgctccta
     2341 agggtagaaa actccagggt cccctgccac cgactgccca gccactccaa gccccctggc
     2401 agctgcccct cctggagcag aaagtgcctt tatctcagcc atccgcagac tgcttggcca
     2461 gatgcgggga caggctggaa tgagggaggc gtcttcatct ccctgccatc cccctctcac
     2521 gccacccccg cccccaccgg gctgcaggtg ctgctgatgc gctgggatct gattgaggat
     2581 aaaaaggaag gagagatgac ccctaccccc tcatccccca gttttgaaaa ggtctaagca
     2641 agtgagtctg gtggaggagc tgagggaggg agccatggaa ggtgccagaa ggaaggttgg
     2701 cgggggcacg tgtgggccgt ggcttgggct ggtcagagtg gcgtgagctg cccggcgcct
     2761 gccctgccca agtgaccagg gaagtgtgtg tgtgtccatg tgtatgcgtg tccgtctgtc
     2821 tgtctagtgt ctgggtttgg cccaagactg ggctgtagtt acattaatgc ccagccagcc
     2881 acccctgcca ctcacccttc ctggcccagg ccttgctgac tctctgagct ggggaggtgg
     2941 gaggccaggc gagcctgact ctgttgatct acccgtgcct gggcccctcc cctcagagcc
     3001 catggtaacg aacccctaga aaggagagaa cgggcgtcag gggtgcacag tccacagctg
     3061 aagagcaagg tttcgtggca gcacggcccg gcccctcacc ctctgtcccc acgaggggac
     3121 ccatgggggc tgtctttgca gggcacagat gaccaaagtc ccttcctgct tcctgttacc
     3181 tgtcttgctc ctggggagaa agaggggcct gatgagactc cactcaggtg cacacatcac
     3241 caggtgcatc tgcaggcacc gggctggctg cttgcagcca ggagaaggtc agcgagaagg
     3301 agtgtatgag tgtgagtgtg tgtgcatgga agttggggca ctgggcgtct gactccctcc
     3361 ccacccaaga gaggaaggac ccctcaccac ccccactggt gagacagttt actttgccaa
     3421 cttgccatgt ttttgccaaa accaagattt tgaaggaaat gagtggccag cgccagggcc
     3481 caggccatgt ggcctgccca gcctcaatgt cacttggtgg cggggtgggg tgggggtggg
     3541 cagcagcatc ccagccttga gatgcttcac tttccttctc tgtaaccaga ctttgaaaaa
     3601 ttgttcgttt catcaggctc tgttcctcaa tggccttttg ctacgtgcct cccgagaaat
     3661 ttgtcttttt gtataaatga caaagtgttg aaaatgtatt tcctgaaata aatgtttcaa
     3721 atgcagaaac cca
//
