LOCUS       NM_145799               4495 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens septin 6 (SEPTIN6), transcript variant 1, mRNA.
ACCESSION   NM_145799
VERSION     NM_145799.4
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 4495)
  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 4495)
  AUTHORS   Hong,Y., Li,X. and Zhu,J.
  TITLE     LSD1-mediated stabilization of SEPT6 protein activates the
            TGF-beta1 pathway and regulates non-small-cell lung cancer
            metastasis
  JOURNAL   Cancer Gene Ther 29 (2), 189-201 (2022)
   PUBMED   33664458
  REMARK    GeneRIF: LSD1-mediated stabilization of SEPT6 protein activates the
            TGF-beta1 pathway and regulates non-small-cell lung cancer
            metastasis.
REFERENCE   3  (bases 1 to 4495)
  AUTHORS   Mendonca,D.C., Guimaraes,S.L., Pereira,H.D., Pinto,A.A., de
            Farias,M.A., de Godoy,A.S., Araujo,A.P.U., van Heel,M.,
            Portugal,R.V. and Garratt,R.C.
  TITLE     An atomic model for the human septin hexamer by cryo-EM
  JOURNAL   J Mol Biol 433 (15), 167096 (2021)
   PUBMED   34116125
  REMARK    GeneRIF: An atomic model for the human septin hexamer by cryo-EM.
REFERENCE   4  (bases 1 to 4495)
  AUTHORS   Fan,Y., Du,Z., Ding,Q., Zhang,J., Op Den Winkel,M., Gerbes,A.L.,
            Liu,M. and Steib,C.J.
  TITLE     SEPT6 drives hepatocellular carcinoma cell proliferation, migration
            and invasion via the Hippo/YAP signaling pathway
  JOURNAL   Int J Oncol 58 (6) (2021)
   PUBMED   33846777
  REMARK    GeneRIF: SEPT6 drives hepatocellular carcinoma cell proliferation,
            migration and invasion via the Hippo/YAP signaling pathway.
REFERENCE   5  (bases 1 to 4495)
  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   6  (bases 1 to 4495)
  AUTHORS   Sheffield,P.J., Oliver,C.J., Kremer,B.E., Sheng,S., Shao,Z. and
            Macara,I.G.
  TITLE     Borg/septin interactions and the assembly of mammalian septin
            heterodimers, trimers, and filaments
  JOURNAL   J Biol Chem 278 (5), 3483-3488 (2003)
   PUBMED   12446710
REFERENCE   7  (bases 1 to 4495)
  AUTHORS   Surka,M.C., Tsang,C.W. and Trimble,W.S.
  TITLE     The mammalian septin MSF localizes with microtubules and is
            required for completion of cytokinesis
  JOURNAL   Mol Biol Cell 13 (10), 3532-3545 (2002)
   PUBMED   12388755
REFERENCE   8  (bases 1 to 4495)
  AUTHORS   Slater,D.J., Hilgenfeld,E., Rappaport,E.F., Shah,N., Meek,R.G.,
            Williams,W.R., Lovett,B.D., Osheroff,N., Autar,R.S., Ried,T. and
            Felix,C.A.
  TITLE     MLL-SEPTIN6 fusion recurs in novel translocation of chromosomes 3,
            X, and 11 in infant acute myelomonocytic leukaemia and in t(X;11)
            in infant acute myeloid leukaemia, and MLL genomic breakpoint in
            complex MLL-SEPTIN6 rearrangement is a DNA topoisomerase II
            cleavage site
  JOURNAL   Oncogene 21 (30), 4706-4714 (2002)
   PUBMED   12096348
  REMARK    GeneRIF: MLL-SEPTIN6 fusion recurs in novel translocation of
            chromosomes 3, X, and 11 in infant acute myelomonocytic leukaemia
            and in t(X;11) in infant acute myeloid leukaemia
REFERENCE   9  (bases 1 to 4495)
  AUTHORS   Ono,R., Taki,T., Taketani,T., Kawaguchi,H., Taniwaki,M.,
            Okamura,T., Kawa,K., Hanada,R., Kobayashi,M. and Hayashi,Y.
  TITLE     SEPTIN6, a human homologue to mouse Septin6, is fused to MLL in
            infant acute myeloid leukemia with complex chromosomal
            abnormalities involving 11q23 and Xq24
  JOURNAL   Cancer Res 62 (2), 333-337 (2002)
   PUBMED   11809673
REFERENCE   10 (bases 1 to 4495)
  AUTHORS   Kinoshita,A., Noda,M. and Kinoshita,M.
  TITLE     Differential localization of septins in the mouse brain
  JOURNAL   J Comp Neurol 428 (2), 223-239 (2000)
   PUBMED   11064363
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY005981.1, AC004913.2 and
            AY034177.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_145799.3.
            
            Summary: This gene is a member of the septin family of GTPases.
            Members of this family are required for cytokinesis. One version of
            pediatric acute myeloid leukemia is the result of a reciprocal
            translocation between chromosomes 11 and X, with the breakpoint
            associated with the genes encoding the mixed-lineage leukemia and
            septin 2 proteins. This gene encodes four transcript variants
            encoding three distinct isoforms. An additional transcript variant
            has been identified, but its biological validity has not been
            determined. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (I) contains an additional segment
            in the 3' coding region, which leads to a frameshift and immediate
            translation termination, as compared to variant II. The resulting
            isoform (A) is truncated at the C-terminus, as compared to isoform
            B.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: AY034177.1, SRR14038191.698623.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000394610.7/ ENSP00000378108.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2260              AY005981.1         95-2354
            2261-4340           AC004913.2         55854-57933         c
            4341-4495           AY034177.1         4524-4678
FEATURES             Location/Qualifiers
     source          1..4495
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq24"
     gene            1..4495
                     /gene="SEPTIN6"
                     /gene_synonym="SEP2; SEPT2; SEPT6; Septin-6"
                     /note="septin 6"
                     /db_xref="GeneID:23157"
                     /db_xref="HGNC:HGNC:15848"
                     /db_xref="MIM:300683"
     exon            1..93
                     /gene="SEPTIN6"
                     /gene_synonym="SEP2; SEPT2; SEPT6; Septin-6"
                     /inference="alignment:Splign:2.1.0"
     CDS             64..1347
                     /gene="SEPTIN6"
                     /gene_synonym="SEP2; SEPT2; SEPT6; Septin-6"
                     /note="isoform A is encoded by transcript variant 1;
                     septin 2"
                     /codon_start=1
                     /product="septin-6 isoform A"
                     /protein_id="NP_665798.1"
                     /db_xref="CCDS:CCDS14585.1"
                     /db_xref="GeneID:23157"
                     /db_xref="HGNC:HGNC:15848"
                     /db_xref="MIM:300683"
                     /translation="MAATDIARQVGEGCRTVPLAGHVGFDSLPDQLVNKSVSQGFCFN
                     ILCVGETGLGKSTLMDTLFNTKFEGEPATHTQPGVQLQSNTYDLQESNVRLKLTIVST
                     VGFGDQINKEDSYKPIVEFIDAQFEAYLQEELKIRRVLHTYHDSRIHVCLYFIAPTGH
                     SLKSLDLVTMKKLDSKVNIIPIIAKADAISKSELTKFKIKITSELVSNGVQIYQFPTD
                     DESVAEINGTMNAHLPFAVIGSTEELKIGNKMMRARQYPWGTVQVENEAHCDFVKLRE
                     MLIRVNMEDLREQTHTRHYELYRRCKLEEMGFKDTDPDSKPFSLQETYEAKRNEFLGE
                     LQKKEEEMRQMFVQRVKEKEAELKEAEKELHEKFDRLKKLHQDEKKKLEDKKKSLDDE
                     VNAFKQRKTAAELLQSQGSQAGGSQTLKRDKEKKN"
     exon            94..208
                     /gene="SEPTIN6"
                     /gene_synonym="SEP2; SEPT2; SEPT6; Septin-6"
                     /inference="alignment:Splign:2.1.0"
     exon            209..404
                     /gene="SEPTIN6"
                     /gene_synonym="SEP2; SEPT2; SEPT6; Septin-6"
                     /inference="alignment:Splign:2.1.0"
     exon            405..591
                     /gene="SEPTIN6"
                     /gene_synonym="SEP2; SEPT2; SEPT6; Septin-6"
                     /inference="alignment:Splign:2.1.0"
     exon            592..753
                     /gene="SEPTIN6"
                     /gene_synonym="SEP2; SEPT2; SEPT6; Septin-6"
                     /inference="alignment:Splign:2.1.0"
     exon            754..850
                     /gene="SEPTIN6"
                     /gene_synonym="SEP2; SEPT2; SEPT6; Septin-6"
                     /inference="alignment:Splign:2.1.0"
     exon            851..1019
                     /gene="SEPTIN6"
                     /gene_synonym="SEP2; SEPT2; SEPT6; Septin-6"
                     /inference="alignment:Splign:2.1.0"
     exon            1020..1152
                     /gene="SEPTIN6"
                     /gene_synonym="SEP2; SEPT2; SEPT6; Septin-6"
                     /inference="alignment:Splign:2.1.0"
     exon            1153..1343
                     /gene="SEPTIN6"
                     /gene_synonym="SEP2; SEPT2; SEPT6; Septin-6"
                     /inference="alignment:Splign:2.1.0"
     exon            1344..1388
                     /gene="SEPTIN6"
                     /gene_synonym="SEP2; SEPT2; SEPT6; Septin-6"
                     /inference="alignment:Splign:2.1.0"
     exon            1389..4495
                     /gene="SEPTIN6"
                     /gene_synonym="SEP2; SEPT2; SEPT6; Septin-6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2097..2102
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SEPTIN6"
                     /gene_synonym="SEP2; SEPT2; SEPT6; Septin-6"
                     /note="hexamer: AATAAA"
     polyA_site      2119
                     /gene="SEPTIN6"
                     /gene_synonym="SEP2; SEPT2; SEPT6; Septin-6"
                     /note="major polyA site"
     regulatory      4475..4480
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SEPTIN6"
                     /gene_synonym="SEP2; SEPT2; SEPT6; Septin-6"
                     /note="hexamer: ATTAAA"
     polyA_site      4495
                     /gene="SEPTIN6"
                     /gene_synonym="SEP2; SEPT2; SEPT6; Septin-6"
ORIGIN      
        1 gtttcctgtg cagtagctcc cgttgcggcg gcacccgtgg cagccctggc ggacgcagga
       61 gcgatggcag cgaccgatat agctcgccag gtgggtgaag gttgccgaac tgtccccctg
      121 gctggacatg tggggtttga cagcttgcct gaccagctgg tgaataagtc cgtcagccag
      181 ggcttctgct tcaacatcct gtgcgtggga gagacaggtt tgggcaagtc caccctcatg
      241 gacaccctgt tcaacaccaa attcgaaggg gagccagcca cccacacaca gccgggtgtc
      301 cagctccagt ctaataccta tgacctccaa gagagcaacg tgaggctaaa gctcacgatc
      361 gttagcacag ttggctttgg ggaccagatc aacaaagagg acagctacaa gcctatcgtg
      421 gaattcatcg atgcacaatt cgaggcctac ctgcaggaag agctaaagat ccgaagagtg
      481 ctacacacct accatgactc ccgaatccat gtctgcttgt atttcattgc ccccacgggt
      541 cattccctga agtctctgga cctagtgact atgaagaagc tggacagtaa ggtgaacatc
      601 atccccatca ttgccaaagc agatgccatt tcgaagagtg agctaacaaa gttcaaaatc
      661 aaaatcacca gcgagcttgt cagcaacgga gtccagatct atcagtttcc tacagatgat
      721 gagtcggtgg cagagatcaa tggaaccatg aacgcccacc tgccgtttgc tgtcattggc
      781 agcacagaag aactgaagat aggcaacaag atgatgaggg cgcggcagta tccttggggc
      841 actgtgcagg ttgaaaacga ggcccactgc gactttgtga agctgcggga gatgctgatt
      901 cgggtcaaca tggaggatct gcgggagcag acccacaccc ggcactatga gctgtatcgc
      961 cgctgtaagc tggaggagat gggcttcaag gacaccgacc ctgacagcaa acccttcagt
     1021 ttacaggaga catatgaggc caaaaggaac gagttcctag gggaactcca gaaaaaagaa
     1081 gaggagatga gacagatgtt cgtccagcga gtcaaagaga aagaagcgga gctcaaagag
     1141 gcagagaaag agctgcacga gaagtttgac cgtctgaaga aactgcacca ggacgagaag
     1201 aagaaactgg aggataagaa gaaatccctg gatgatgaag tgaatgcttt caagcaaaga
     1261 aagacggcgg ctgagctgct ccagtcccag ggctcccagg ctggaggctc acagactctg
     1321 aagagagaca aagagaagaa aaattaactc tgctgtttgc tgcatgctgc atgagaccca
     1381 gggtcctgtt tgggcttcct gtagacaccc ttttcctgcg caacagagct gggcctccct
     1441 ttctctaatt tcccccttaa catgcctggg gggcatacaa tccaacccgc gccctctcct
     1501 ctcttcctgc caaggtttat agaaacctga gaatctgagg gtgatgtctg gccgctggtc
     1561 aagaagccaa cagtcatgtg gctcgcagat gcatcctgca tcccagtccc cctcccagca
     1621 cccccagcca tcccccctgt cttcccccac atctttgcca gaggtgtgac atggtcaggg
     1681 ggcccatctg ctactctttc ccaccagctc ccctgttcca gttctggttg ctgttagttt
     1741 ccctgaggta tttgcaacca ccatggctgg gtaaccaccg atcagcacag ctgtcccctt
     1801 ggtctcctgt atcccagtca ctagtcctcc ctggtccacc ccaccctcat cctcaggagc
     1861 cacagccatt tcttagaggg tttcaaaagg acagcctttg gcgccttttc cttctaacct
     1921 ttgagtccag ccctttccag ttttcattca ctcgaagtaa ctgcactcaa gctgtgctca
     1981 aaatcggcaa cgcatttatt tacaccaagc ccttcccata aaacacaact gctgaagaaa
     2041 atagcagacg tttcccctct ctctaactct gggtatccca cagatgcaaa agggagaata
     2101 aacctgaata ttattaccag cctagagtct tgaatgatag ccttaccgaa ttcttcttgt
     2161 gaggtatttc agcatctcgg ggggtaattt ccggaagggc tccatactgt cccaataagg
     2221 tgaggccagt agcaggaata ataaatccca ctttgtaggc tggaaaactg agctgtcaaa
     2281 agaatcaagt gtttgggggt ttgctctgat gagtcttcta gttcatttgg tgaatgtcat
     2341 gatgattttt aacatgcatt ttgcatgcat cccccaataa gaagagatga gactcggccg
     2401 gagagaagaa aaggccctta actttctttc caatttaagg agttgagagt ttaaaaatat
     2461 tccagcccta agtttttatc atgggtccca tctgatagtg gctttgggaa cctctgtgaa
     2521 gtagagagcc ctcccttgtc agggttatga ggcacagtgg cctttggtgt ttggccagtg
     2581 acagtgtgag agatggagtt gacctggcaa tgatctgtgg ctaacatgcc gtctctctgc
     2641 ccttcctttg cagtaatcca tggctgtgta ctgaatagta ttccccgcta cagctggact
     2701 ggactccatt tagcctttta agccgaggtt cctattttaa ctgacagctt tcctttgggg
     2761 tgccaggcag cgaggccccc cacccctatc ctgccatgta cttcaagctc acttcttctt
     2821 tttgagttcc gcaacttgct cctgcctccc agccccactg gcactgacca tgaccaccta
     2881 cttctatttt ttttttagag tttctttttt tgatcactta ctttcaaagc acacagtcaa
     2941 acaaggttat gccaaatttc caggcctttt tgaagtattg agaaggggaa ggggatttct
     3001 cacttcaatt atagatcata ataggaagca aaaagaaaaa aatgaaaagc aaacatatgc
     3061 acgcactttt cttgttgaca aagcaagaat ataggtttgc tgtgtaggtt tggtgctcta
     3121 ttgattggtg agtgaccaga gcaagtatga aggtgatgct gccaaagcac aagccagttt
     3181 cttgggaaaa ttcaagttac agtggagtat ttttttgaag accatatgct tggaggtaga
     3241 aacaaaccaa cgaccaaaaa aaaaaaaaaa aaaatctgct cagatactca gccagtagct
     3301 cagagagatg ctgagttagg cctgtcaggt ctccttggga aaggcttcat atttgcaact
     3361 ttgatgattc tatgtccagc ttcagagctg ctttcccaga aattcacgct taaacaacca
     3421 accggtaacc accacttccc cacaccgccg cccggtaatt atttgcatta caaaccggag
     3481 gcgccctcat ttgcatttgt gtacagatta actagttaag gcttgagaag ctctgaataa
     3541 ttcaaaagta ttagacccac acagccttgg agagaccttc agaaactaag gaggagtttt
     3601 atattaaggg agacatttta gtcagtaaga cgatataacc tacttactcc gtaaggggaa
     3661 atgaaggccc agagaaggga agggacttga ccgaggtccc acttctgttt cgaggcagaa
     3721 gccagactaa ttttcatgcc tcctgactcc caatcagttt cacaaaggga ttcaatctgt
     3781 ttatatacgt tacattcctg gatacgaggt cttttgatgt tcagagtaac tgactagtta
     3841 gtattagaag accctcgagg tttttttcca cagaaaaaca tctgaagatg gattgggtga
     3901 gggctggcaa aacgaaggca tgccgggcca gctccttaac ccaatgaccc agtgatgctg
     3961 caaggctgga acggggtcca ggagactgtg tgtaacaggt gccctaggtg acccttataa
     4021 tcagggaagt ttggtgaaca aaaatcgaac ccatgagtga acataaatta aaaagttgat
     4081 caacctatta aaatgtgtat ttcattgggt agcttttctc actgtagaca gattttttcc
     4141 ttcttcaatg aaaaggcttt taaattagta caactgttac tatttaaaaa aaaaataccc
     4201 taagtactct gtttacttct ggtgaaacaa aaccagtcat tagaaatggt ctgtgctttt
     4261 attttcccag actggagtgg cttttctgaa acacacacac acacacacac acacacacac
     4321 acacacacac acacacacac gtacacacat ccctcacttc tcttaagcca agaagtttgc
     4381 tttccctagc tgcagtgtag atggctcttg tttttgtttt tttgttttaa tcatttggca
     4441 ttcacatgtg gctgttaata tgtgcttgtt tttaattaaa acaagaagct ttaaa
//
