LOCUS       NM_144605               1356 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens septin 12 (SEPTIN12), transcript variant 2, mRNA.
ACCESSION   NM_144605
VERSION     NM_144605.5
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 1356)
  AUTHORS   Zhang,Y., Liu,G., Huang,L., He,X., Su,Y., Nie,X., Mao,Z. and
            Xing,X.
  TITLE     SUN5 interacts with nuclear membrane LaminB1 and cytoskeletal
            GTPase Septin12 mediating the sperm head-and-tail junction
  JOURNAL   Mol Hum Reprod 30 (7) (2024)
   PUBMED   38870534
  REMARK    GeneRIF: SUN5 interacts with nuclear membrane LaminB1 and
            cytoskeletal GTPase Septin12 mediating the sperm head-and-tail
            junction.
REFERENCE   2  (bases 1 to 1356)
  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 1356)
  AUTHORS   Ozkara,G. and Ersoy Tunali,N.
  TITLE     SEPTIN12 c.474 G > A polymorphism as a risk factor in
            teratozoospermic patients
  JOURNAL   Mol Biol Rep 48 (5), 4073-4081 (2021)
   PUBMED   34057684
  REMARK    GeneRIF: SEPTIN12 c.474 G > A polymorphism as a risk factor in
            teratozoospermic patients.
REFERENCE   4  (bases 1 to 1356)
  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 1356)
  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   6  (bases 1 to 1356)
  AUTHORS   Lin,Y.H., Lin,Y.M., Wang,Y.Y., Yu,I.S., Lin,Y.W., Wang,Y.H.,
            Wu,C.M., Pan,H.A., Chao,S.C., Yen,P.H., Lin,S.W. and Kuo,P.L.
  TITLE     The expression level of septin12 is critical for spermiogenesis
  JOURNAL   Am J Pathol 174 (5), 1857-1868 (2009)
   PUBMED   19359518
  REMARK    GeneRIF: Decreases in SEPTIN12 expression is associated with male
            infertility.
REFERENCE   7  (bases 1 to 1356)
  AUTHORS   Ding,X., Yu,W., Liu,M., Shen,S., Chen,F., Cao,L., Wan,B. and Yu,L.
  TITLE     GTP binding is required for SEPT12 to form filaments and to
            interact with SEPT11
  JOURNAL   Mol Cells 25 (3), 385-389 (2008)
   PUBMED   18443421
REFERENCE   8  (bases 1 to 1356)
  AUTHORS   Ding,X., Yu,W., Liu,M., Shen,S., Chen,F., Wan,B. and Yu,L.
  TITLE     SEPT12 interacts with SEPT6 and this interaction alters the
            filament structure of SEPT6 in Hela cells
  JOURNAL   J Biochem Mol Biol 40 (6), 973-978 (2007)
   PUBMED   18047794
  REMARK    GeneRIF: While SEPT12 formed filamentous structures at interphase,
            it was localized to the central spindle and to midbody during
            anaphase and cytokinesis, respectively.
REFERENCE   9  (bases 1 to 1356)
  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   10 (bases 1 to 1356)
  AUTHORS   Kinoshita,M.
  TITLE     The septins
  JOURNAL   Genome Biol 4 (11), 236 (2003)
   PUBMED   14611653
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from EF620906.1 and AC020663.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_144605.4.
            
            Summary: This gene encodes a guanine-nucleotide binding protein and
            member of the septin family of cytoskeletal GTPases. Septins play
            important roles in cytokinesis, exocytosis, embryonic development,
            and membrane dynamics. Multiple transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Oct 2011].
            
            Transcript Variant: This variant (2) contains an alternate exon in
            the coding region compared to variant 1. The encoded isoform (2) is
            longer but has the identical N- and C-termini 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 :: EF620906.1, DQ517531.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968832,
                                           SAMEA1968968 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000268231.13/ ENSP00000268231.8
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1348              EF620906.1         177-1524
            1349-1356           AC020663.1         70367-70374         c
FEATURES             Location/Qualifiers
     source          1..1356
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..1356
                     /gene="SEPTIN12"
                     /gene_synonym="SEPT12; SPGF10"
                     /note="septin 12"
                     /db_xref="GeneID:124404"
                     /db_xref="HGNC:HGNC:26348"
                     /db_xref="MIM:611562"
     exon            1..66
                     /gene="SEPTIN12"
                     /gene_synonym="SEPT12; SPGF10"
                     /inference="alignment:Splign:2.1.0"
     exon            67..254
                     /gene="SEPTIN12"
                     /gene_synonym="SEPT12; SPGF10"
                     /inference="alignment:Splign:2.1.0"
     CDS             89..1165
                     /gene="SEPTIN12"
                     /gene_synonym="SEPT12; SPGF10"
                     /note="isoform 2 is encoded by transcript variant 2;
                     testicular tissue protein Li 168"
                     /codon_start=1
                     /product="septin-12 isoform 2"
                     /protein_id="NP_653206.2"
                     /db_xref="CCDS:CCDS10522.1"
                     /db_xref="GeneID:124404"
                     /db_xref="HGNC:HGNC:26348"
                     /db_xref="MIM:611562"
                     /translation="MDPLRRSPSPCLSSQPSSPSTPPCEMLGPVGIEAVLDQLKIKAM
                     KMGFEFNIMVVGQSGLGKSTMVNTLFKSKVWKSNPPGLGVPTPQTLQLHSLTHVIEEK
                     GVKLKLTVTDTPGFGDQINNDNCWDPILGYINEQYEQYLQEEILITRQRHIPDTRVHC
                     CVYFVPPTGHCLRPLDIEFLQRLCRTVNVVPVIARADSLTMEEREAFRRRIQQNLRTH
                     CIDVYPQMCFDEDINDKILNSKLRDRIPFAVVGADQEHLVNGRCVLGRKTKWGIIEVE
                     NMAHCEFPLLRDLLIRSHLQDLKDITHNIHYENYRVIRLNESHLLPRGPGWVNLAPAS
                     PGQLTTPRTFKVCRGAHDDSDDEF"
     exon            255..380
                     /gene="SEPTIN12"
                     /gene_synonym="SEPT12; SPGF10"
                     /inference="alignment:Splign:2.1.0"
     exon            381..462
                     /gene="SEPTIN12"
                     /gene_synonym="SEPT12; SPGF10"
                     /inference="alignment:Splign:2.1.0"
     exon            463..600
                     /gene="SEPTIN12"
                     /gene_synonym="SEPT12; SPGF10"
                     /inference="alignment:Splign:2.1.0"
     exon            601..718
                     /gene="SEPTIN12"
                     /gene_synonym="SEPT12; SPGF10"
                     /inference="alignment:Splign:2.1.0"
     exon            719..814
                     /gene="SEPTIN12"
                     /gene_synonym="SEPT12; SPGF10"
                     /inference="alignment:Splign:2.1.0"
     exon            815..911
                     /gene="SEPTIN12"
                     /gene_synonym="SEPT12; SPGF10"
                     /inference="alignment:Splign:2.1.0"
     exon            912..963
                     /gene="SEPTIN12"
                     /gene_synonym="SEPT12; SPGF10"
                     /inference="alignment:Splign:2.1.0"
     exon            964..1356
                     /gene="SEPTIN12"
                     /gene_synonym="SEPT12; SPGF10"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      1293
                     /gene="SEPTIN12"
                     /gene_synonym="SEPT12; SPGF10"
                     /note="major polyA site"
     regulatory      1329..1334
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SEPTIN12"
                     /gene_synonym="SEPT12; SPGF10"
                     /note="hexamer: AATAAA"
     polyA_site      1356
                     /gene="SEPTIN12"
                     /gene_synonym="SEPT12; SPGF10"
ORIGIN      
        1 acacacacca ggccctgcca ggacaaggca gctcctggaa gctccaccag gacccacgtc
       61 caccaggcat ctcgaaccct tggcccccat ggaccccctg aggcgctccc cctctccctg
      121 cctgtcctcg cagccctcca gccccagcac cccaccctgc gagatgcttg gtcctgtggg
      181 cattgaggct gtgctggacc agctgaagat caaggctatg aagatggggt ttgagttcaa
      241 catcatggtg gtggggcaaa gcgggctggg caagtccacg atggtgaaca cgctgttcaa
      301 gtccaaagtg tggaagtcaa acccaccggg cttgggggtg cccacacccc agacgctgca
      361 gctgcattca ctgacccatg tcatagagga gaagggtgtg aagctgaagc tgacggtgac
      421 ggacacgccc ggcttcgggg accagatcaa caatgacaac tgctgggacc ccatcctggg
      481 ctacatcaac gagcaatacg agcagtacct gcaggaggag atcctcatca cccgccagcg
      541 ccacatccca gacacccggg tgcactgctg cgtgtacttt gtaccaccca ctgggcactg
      601 cctgcggccc ctggacattg agttcctgca gcggctgtgc cggactgtga atgtggtgcc
      661 cgtgattgcc agggccgaca gcctgaccat ggaggagcga gaggccttca ggcgcaggat
      721 ccagcagaac ctgaggaccc actgcatcga cgtctacccc cagatgtgct ttgacgagga
      781 catcaatgac aaaatcctca acagcaagtt acgggaccga atcccttttg ccgtggtagg
      841 ggctgaccaa gagcacctgg tgaacgggag gtgtgtcctg ggccggaaga ccaagtgggg
      901 catcattgaa gtggagaaca tggcgcactg tgaatttcct ctcctgagag acctgcttat
      961 ccgctcccac ctccaagacc tgaaggacat aacccacaac atccactatg agaactaccg
     1021 cgtcatcaga ctcaatgaaa gccacctgct gccccgcggg cccggctggg tgaacctggc
     1081 cccggcctcc ccaggacagc tgaccacccc ccggaccttc aaggtctgca ggggggccca
     1141 tgacgattct gatgatgagt tctgaccacc ggcggatccc ggggctgctg ggcttcctga
     1201 gtccccagcg gctctcaaca cacacctatg taccagagca tctattaaat gtgagccttg
     1261 ctttttatga aaagctgtgc tttgaaaaca aaaggcattt tgtaaatgac ttctttgagc
     1321 tatccacaaa taaaaaggct gggtgtcact ctgtta
//
