LOCUS       NM_001368771            3303 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens septin 4 (SEPTIN4), transcript variant 11, mRNA.
ACCESSION   NM_001368771
VERSION     NM_001368771.2
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 3303)
  AUTHORS   Hao,Q., Chen,J., Lu,H. and Zhou,X.
  TITLE     The ARTS of p53-dependent mitochondrial apoptosis
  JOURNAL   J Mol Cell Biol 14 (10) (2023)
   PUBMED   36565718
  REMARK    GeneRIF: The ARTS of p53-dependent mitochondrial apoptosis.
            Review article
REFERENCE   2  (bases 1 to 3303)
  AUTHORS   Wang,G., Zhu,X., Gao,Y., Lv,M., Li,K., Tang,D., Wu,H., Xu,C.,
            Geng,H., Shen,Q., Zha,X., Duan,Z., Zhang,J., Hua,R., Tao,F.,
            Zhou,P., Wei,Z., Cao,Y., Guo,R. and He,X.
  TITLE     Biallelic loss-of-function mutations in SEPTIN4 (C17ORF47),
            encoding a conserved annulus protein, cause thin midpiece
            spermatozoa and male infertility in humans
  JOURNAL   Hum Mutat 43 (12), 2079-2090 (2022)
   PUBMED   36135717
  REMARK    GeneRIF: Biallelic loss-of-function mutations in SEPTIN4
            (C17ORF47), encoding a conserved annulus protein, cause thin
            midpiece spermatozoa and male infertility in humans.
REFERENCE   3  (bases 1 to 3303)
  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   4  (bases 1 to 3303)
  AUTHORS   Hao,Q., Chen,J., Liao,J., Huang,Y., Gan,Y., Larisch,S., Zeng,S.X.,
            Lu,H. and Zhou,X.
  TITLE     p53 induces ARTS to promote mitochondrial apoptosis
  JOURNAL   Cell Death Dis 12 (2), 204 (2021)
   PUBMED   33627621
  REMARK    GeneRIF: p53 induces ARTS to promote mitochondrial apoptosis.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3303)
  AUTHORS   Larisch,S.
  TITLE     The ARTS connection: role of ARTS in apoptosis and cancer
  JOURNAL   Cell Cycle 3 (8), 1021-1023 (2004)
   PUBMED   15254396
  REMARK    Review article
REFERENCE   6  (bases 1 to 3303)
  AUTHORS   Tanaka,M., Tanaka,T., Kijima,H., Itoh,J., Matsuda,T., Hori,S. and
            Yamamoto,M.
  TITLE     Characterization of tissue- and cell-type-specific expression of a
            novel human septin family gene, Bradeion
  JOURNAL   Biochem Biophys Res Commun 286 (3), 547-553 (2001)
   PUBMED   11511094
REFERENCE   7  (bases 1 to 3303)
  AUTHORS   Zieger,B., Tran,H., Hainmann,I., Wunderle,D., Zgaga-Griesz,A.,
            Blaser,S. and Ware,J.
  TITLE     Characterization and expression analysis of two human septin genes,
            PNUTL1 and PNUTL2
  JOURNAL   Gene 261 (2), 197-203 (2000)
   PUBMED   11167005
REFERENCE   8  (bases 1 to 3303)
  AUTHORS   Larisch,S., Yi,Y., Lotan,R., Kerner,H., Eimerl,S., Tony Parks,W.,
            Gottfried,Y., Birkey Reffey,S., de Caestecker,M.P., Danielpour,D.,
            Book-Melamed,N., Timberg,R., Duckett,C.S., Lechleider,R.J.,
            Steller,H., Orly,J., Kim,S.J. and Roberts,A.B.
  TITLE     A novel mitochondrial septin-like protein, ARTS, mediates apoptosis
            dependent on its P-loop motif
  JOURNAL   Nat Cell Biol 2 (12), 915-921 (2000)
   PUBMED   11146656
REFERENCE   9  (bases 1 to 3303)
  AUTHORS   Paavola,P., Horelli-Kuitunen,N., Palotie,A. and Peltonen,L.
  TITLE     Characterization of a novel gene, PNUTL2, on human chromosome
            17q22-q23 and its exclusion as the Meckel syndrome gene
  JOURNAL   Genomics 55 (1), 122-125 (1999)
   PUBMED   9889007
REFERENCE   10 (bases 1 to 3303)
  AUTHORS   Xie,H., Surka,M., Howard,J. and Trimble,W.S.
  TITLE     Characterization of the mammalian septin H5: distinct patterns of
            cytoskeletal and membrane association from other septin proteins
  JOURNAL   Cell Motil Cytoskeleton 43 (1), 52-62 (1999)
   PUBMED   10340703
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005666.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 27, 2019 this sequence version replaced NM_001368771.1.
            
            Summary: This gene is a member of the septin 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
            highly expressed in brain and heart. Alternatively spliced
            transcript variants encoding different isoforms have been described
            for this gene. One of the isoforms (known as ARTS) is distinct; it
            is localized to the mitochondria, and has a role in apoptosis and
            cancer. [provided by RefSeq, Nov 2010].
            
            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##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 11146656; reported by
                                                  MitoCarta
            MANE Ensembl match                 :: ENST00000672673.2/
                                                  ENSP00000500383.1
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1703              AC005666.1         120775-122477       c
            1704-1748           AC005666.1         120071-120115       c
            1749-1756           AC005666.1         118815-118822       c
            1757-2053           AC005666.1         104831-105127       c
            2054-2147           AC005666.1         104369-104462       c
            2148-2234           AC005666.1         103844-103930       c
            2235-2358           AC005666.1         103227-103350       c
            2359-2493           AC005666.1         100116-100250       c
            2494-2611           AC005666.1         99885-100002        c
            2612-2713           AC005666.1         99694-99795         c
            2714-2810           AC005666.1         99403-99499         c
            2811-2973           AC005666.1         99147-99309         c
            2974-3073           AC005666.1         98892-98991         c
            3074-3303           AC005666.1         98405-98634         c
FEATURES             Location/Qualifiers
     source          1..3303
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q22"
     gene            1..3303
                     /gene="SEPTIN4"
                     /gene_synonym="ARTS; BRADEION; C17orf47; CE5B3; H5;
                     hCDCREL-2; hucep-7; MART; PNUTL2; SEP4; SEPT4; Septin-4"
                     /note="septin 4"
                     /db_xref="GeneID:5414"
                     /db_xref="HGNC:HGNC:9165"
                     /db_xref="MIM:603696"
     exon            1..1703
                     /gene="SEPTIN4"
                     /gene_synonym="ARTS; BRADEION; C17orf47; CE5B3; H5;
                     hCDCREL-2; hucep-7; MART; PNUTL2; SEP4; SEPT4; Septin-4"
                     /inference="alignment:Splign:2.1.0"
     CDS             143..3133
                     /gene="SEPTIN4"
                     /gene_synonym="ARTS; BRADEION; C17orf47; CE5B3; H5;
                     hCDCREL-2; hucep-7; MART; PNUTL2; SEP4; SEPT4; Septin-4"
                     /note="isoform 11 is encoded by transcript variant 11;
                     septin-M; cell division control-related protein 2;
                     cerebral protein 7; CE5B3 beta; bradeion beta; brain
                     protein H5; peanut-like protein 2; apoptosis-related
                     protein in the TGF-beta signaling pathway; uncharacterized
                     protein C17orf47"
                     /codon_start=1
                     /product="septin-4 isoform 11"
                     /protein_id="NP_001355700.1"
                     /db_xref="CCDS:CCDS92368.1"
                     /db_xref="GeneID:5414"
                     /db_xref="HGNC:HGNC:9165"
                     /db_xref="MIM:603696"
                     /translation="MVKTNKPGAKVAVSAQRGSEVTTNTSPQQGHGYVLASSHRSAAV
                     SLNPSHRRSEAAHPTTPHSASDYPRSVSLQSGPGHYAVPTPRGPETGPRTESSRHSSP
                     HLKSQKTQTLASHASSRQWKVSPPREEAARRGSESKSGREVGHHASSIPDAKSTHQLS
                     FQDQKNNLQSQILEDDPPSKVQNPQGVRVPRRILSYPKDEAVQTEPIQRITTTSEIRS
                     PRSPSLLEHGSSCVSADYQTAQRRVPVEESETGPYGPIPSKPKALYRNMNLDSLLKLS
                     VLKDSDGVHRVSARVDPESLHKYSAYPETKPSAKVLVSSQVESNVRTPIRGNSEVGRR
                     VTISPGVQSVEPTHHVTVPSVSEGSHKSSMFVTPEPIYKQQTQKPPEITYMSQGPTPR
                     YPELSQKPSIHAELELTPRPLPPRSLPRYGPDSSWWPLLNPEVETPQSQLTTPDFEPK
                     CSPSLDLLLSGFKIDSSPFCEDLKFQREKASLSPPSPPKEFPSWAPLSEVPQTPKHTC
                     KQPIQRFTAFFLDVSEEMYNRVIWWLKDEEIKRFLEDTTDDGELSKFVKDFSGNASCH
                     PPEAKTWASRPQVPEPRPQAPDLYDDDLEFRPPSRPQSSDNQQYFCAPAPLSPSARPR
                     SPWGKLDPYDSSEDDKEYVGFATLPNQVHRKSVKKGFDFTLMVAGESGLGKSTLVNSL
                     FLTDLYRDRKLLGAEERIMQTVEITKHAVDIEEKGVRLRLTIVDTPGFGDAVNNTECW
                     KPVAEYIDQQFEQYFRDESGLNRKNIQDNRVHCCLYFISPFGHGLRPLDVEFMKALHQ
                     RVNIVPILAKADTLTPPEVDHKKRKIREEIEHFGIKIYQFPDCDSDEDEDFKLQDQAL
                     KESIPFAVIGSNTVVEARGRRVRGRLYPWGIVEVENPGHCDFVKLRTMLVRTHMQDLK
                     DVTRETHYENYRAQCIQSMTRLVVKERNRNKLTRESGTDFPIPAVPPGTDPETEKLIR
                     EKDEELRRMQEMLHKIQKQMKENY"
     exon            1704..1748
                     /gene="SEPTIN4"
                     /gene_synonym="ARTS; BRADEION; C17orf47; CE5B3; H5;
                     hCDCREL-2; hucep-7; MART; PNUTL2; SEP4; SEPT4; Septin-4"
                     /inference="alignment:Splign:2.1.0"
     exon            1749..1756
                     /gene="SEPTIN4"
                     /gene_synonym="ARTS; BRADEION; C17orf47; CE5B3; H5;
                     hCDCREL-2; hucep-7; MART; PNUTL2; SEP4; SEPT4; Septin-4"
                     /inference="alignment:Splign:2.1.0"
     exon            1757..2053
                     /gene="SEPTIN4"
                     /gene_synonym="ARTS; BRADEION; C17orf47; CE5B3; H5;
                     hCDCREL-2; hucep-7; MART; PNUTL2; SEP4; SEPT4; Septin-4"
                     /inference="alignment:Splign:2.1.0"
     exon            2054..2147
                     /gene="SEPTIN4"
                     /gene_synonym="ARTS; BRADEION; C17orf47; CE5B3; H5;
                     hCDCREL-2; hucep-7; MART; PNUTL2; SEP4; SEPT4; Septin-4"
                     /inference="alignment:Splign:2.1.0"
     exon            2148..2234
                     /gene="SEPTIN4"
                     /gene_synonym="ARTS; BRADEION; C17orf47; CE5B3; H5;
                     hCDCREL-2; hucep-7; MART; PNUTL2; SEP4; SEPT4; Septin-4"
                     /inference="alignment:Splign:2.1.0"
     exon            2235..2358
                     /gene="SEPTIN4"
                     /gene_synonym="ARTS; BRADEION; C17orf47; CE5B3; H5;
                     hCDCREL-2; hucep-7; MART; PNUTL2; SEP4; SEPT4; Septin-4"
                     /inference="alignment:Splign:2.1.0"
     exon            2359..2493
                     /gene="SEPTIN4"
                     /gene_synonym="ARTS; BRADEION; C17orf47; CE5B3; H5;
                     hCDCREL-2; hucep-7; MART; PNUTL2; SEP4; SEPT4; Septin-4"
                     /inference="alignment:Splign:2.1.0"
     exon            2494..2611
                     /gene="SEPTIN4"
                     /gene_synonym="ARTS; BRADEION; C17orf47; CE5B3; H5;
                     hCDCREL-2; hucep-7; MART; PNUTL2; SEP4; SEPT4; Septin-4"
                     /inference="alignment:Splign:2.1.0"
     exon            2612..2713
                     /gene="SEPTIN4"
                     /gene_synonym="ARTS; BRADEION; C17orf47; CE5B3; H5;
                     hCDCREL-2; hucep-7; MART; PNUTL2; SEP4; SEPT4; Septin-4"
                     /inference="alignment:Splign:2.1.0"
     exon            2714..2810
                     /gene="SEPTIN4"
                     /gene_synonym="ARTS; BRADEION; C17orf47; CE5B3; H5;
                     hCDCREL-2; hucep-7; MART; PNUTL2; SEP4; SEPT4; Septin-4"
                     /inference="alignment:Splign:2.1.0"
     exon            2811..2973
                     /gene="SEPTIN4"
                     /gene_synonym="ARTS; BRADEION; C17orf47; CE5B3; H5;
                     hCDCREL-2; hucep-7; MART; PNUTL2; SEP4; SEPT4; Septin-4"
                     /inference="alignment:Splign:2.1.0"
     exon            2974..3073
                     /gene="SEPTIN4"
                     /gene_synonym="ARTS; BRADEION; C17orf47; CE5B3; H5;
                     hCDCREL-2; hucep-7; MART; PNUTL2; SEP4; SEPT4; Septin-4"
                     /inference="alignment:Splign:2.1.0"
     exon            3074..3303
                     /gene="SEPTIN4"
                     /gene_synonym="ARTS; BRADEION; C17orf47; CE5B3; H5;
                     hCDCREL-2; hucep-7; MART; PNUTL2; SEP4; SEPT4; Septin-4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3276..3281
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SEPTIN4"
                     /gene_synonym="ARTS; BRADEION; C17orf47; CE5B3; H5;
                     hCDCREL-2; hucep-7; MART; PNUTL2; SEP4; SEPT4; Septin-4"
                     /note="hexamer: AATAAA"
     polyA_site      3303
                     /gene="SEPTIN4"
                     /gene_synonym="ARTS; BRADEION; C17orf47; CE5B3; H5;
                     hCDCREL-2; hucep-7; MART; PNUTL2; SEP4; SEPT4; Septin-4"
                     /note="major polyA site"
ORIGIN      
        1 actcttagaa caacagccac ttttgtggga gcccaagaaa cagcagcttt aaaacagggt
       61 aaatattcag gcatcattag gatcctgaat acaagccagc cagtaaaata cgggatctac
      121 tcagaagggc acaatctatc agatggtcaa gacaaataaa cctggggcca aggtagcggt
      181 ttcagcacag agagggtctg aggttactac taacacatcc cctcagcagg gacatgggta
      241 cgttcttgcc tcaagccatc gaagtgctgc agtctccctg aacccttccc accgaagatc
      301 agaagctgca catcccacca ctccccattc agcatcagac taccctcgat ctgtctccct
      361 ccagtcagga cctggacact atgcagtacc cactcctcgg ggacccgaga ctggaccaag
      421 aacagaatca tcccgccatt cctctcccca tctaaagagc cagaagactc agacactggc
      481 ttcccatgct tcaagcagac aatggaaagt tagtccaccc agagaggaag cagcacgaag
      541 aggcagtgag agcaagtcag ggcgcgaggt cggccatcat gcttcatcaa tcccagatgc
      601 caaatctact catcagttga gttttcaaga ccagaagaat aacttacaat cacaaatctt
      661 agaagatgac ccaccatcca aggtccagaa cccccaagga gtcagagttc cccgtaggat
      721 tttgtcttac ccaaaggatg aagcagtaca aactgagccc atccaaagaa ttacgactac
      781 tagtgagatc agatctccaa ggagtccctc tctcctagag cacggaagca gctgtgtctc
      841 tgcagactat cagacagccc agagaagggt ccctgtagaa gaatcagaaa caggtcctta
      901 cggtccaatt ccttcaaaac ccaaggcctt gtataggaat atgaacttgg actcattgct
      961 caaactctct gtccttaaag attctgatgg tgtacaccga gtttctgcac gggtagaccc
     1021 tgagtctctt cataagtatt ctgcctatcc tgaaaccaag ccctccgcaa aggtcttagt
     1081 atcatcacag gtggagtcca acgtgaggac cccaatccga ggaaacagcg aggttggccg
     1141 cagggtcacc atctccccag gggtacagtc agtagagcca actcaccatg tgacagttcc
     1201 atcagtgtct gagggctccc acaagtcatc catgtttgtt actccagagc ccatctataa
     1261 acagcaaacc caaaaacccc cagaaattac ttacatgtcc caaggaccta cacccaggta
     1321 tccagaactc tcgcaaaagc cctccatcca tgcagaactg gaactgaccc ctaggccctt
     1381 gcctcctcgg tccttaccta ggtacggacc tgactcctca tggtggccct tgctgaatcc
     1441 tgaagttgaa acaccccaaa gccagctgac aacaccggat tttgagccta agtgctctcc
     1501 ttccctagat cttttattgt ccggttttaa aatagactct agccctttct gtgaggatct
     1561 gaagttccag agagagaagg caagcctatc accaccatca ccaccaaagg agtttccaag
     1621 ttgggcacca ctgagtgaag tgccacagac ccccaagcac acctgcaaac aacccattca
     1681 aaggtttact gctttcttcc tggatgtctc tgaggaaatg tacaatcgtg tcatctggtg
     1741 gctaaaagat gaggagatca agcgtttcct ggaggacacc acggatgatg gagaactgag
     1801 caagttcgtg aaggatttct caggaaatgc gagctgccac ccaccagagg ctaagacctg
     1861 ggcatccagg ccccaagtcc cggagccaag gccccaggcc ccggacctct atgatgatga
     1921 cctggagttc agacccccct cgcggcccca gtcctctgac aaccagcagt acttctgtgc
     1981 cccagcccct ctcagcccat ctgccaggcc ccgcagccca tggggcaagc ttgatcccta
     2041 tgattcctct gaggatgaca aggagtatgt gggctttgca accctcccca accaagtcca
     2101 ccgaaagtcc gtgaagaaag gctttgactt taccctcatg gtggcaggag agtctggcct
     2161 gggcaaatcc acacttgtca atagcctctt cctcactgat ctgtaccggg accggaaact
     2221 tcttggtgct gaagagagga tcatgcaaac tgtggagatc actaagcatg cagtggacat
     2281 agaagagaag ggtgtgaggc tgcggctcac cattgtggac acaccaggtt ttggggatgc
     2341 agtcaacaac acagagtgct ggaagcctgt ggcagaatac attgatcagc agtttgagca
     2401 gtatttccga gacgagagtg gcctgaaccg aaagaacatc caagacaaca gggtgcactg
     2461 ctgcctgtac ttcatctcac ccttcggcca tgggctccgg ccattggatg ttgaattcat
     2521 gaaggccctg catcagcggg tcaacatcgt gcctatcctg gctaaggcag acacactgac
     2581 acctcccgaa gtggaccaca agaaacgcaa aatccgggag gagattgagc attttggaat
     2641 caagatctat caattcccag actgtgactc tgatgaggat gaggacttca aattgcagga
     2701 ccaagcccta aaggaaagca tcccatttgc agtaattggc agcaacactg tagtagaggc
     2761 cagagggcgg cgagttcggg gtcgactcta cccctggggc atcgtggaag tggaaaaccc
     2821 agggcactgc gactttgtga agctgaggac aatgctggta cgtacccaca tgcaggacct
     2881 gaaggatgtg acacgggaga cacattatga gaactaccgg gcacagtgca tccagagcat
     2941 gacccgcctg gtggtgaagg aacggaatcg caacaaactg actcgggaaa gtggtaccga
     3001 cttccccatc cctgctgtcc caccagggac agatccagaa actgagaagc ttatccgaga
     3061 gaaagatgag gagctgcggc ggatgcagga gatgctacac aaaatacaaa aacagatgaa
     3121 ggagaactat taactggctt tcagccctgg atatttaaat ctcctcctct tcttcctgtc
     3181 catgccggcc cctcccagca ccagctctgc tcaggcccct tcagctactg ccacttcgcc
     3241 ttacatccct gctgactgcc cagagactca gaggaaataa agtttaataa atctgtaggt
     3301 ggc
//
