LOCUS       NM_001162870            4945 bp    mRNA    linear   ROD 02-MAY-2024
DEFINITION  Mus musculus spastin (Spast), transcript variant 1, mRNA.
ACCESSION   NM_001162870
VERSION     NM_001162870.2
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 4945)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 4945)
  AUTHORS   Jin,Z., Zhang,Z.C., Xiao,C.Y., Li,M.Q., Li,Q.R. and Gao,L.L.
  TITLE     CRMP5 participates in oocyte meiosis by regulating spastin to
            correct microtubule-kinetochore misconnection
  JOURNAL   Zygote 32 (1), 21-27 (2024)
   PUBMED   38047349
  REMARK    GeneRIF: CRMP5 participates in oocyte meiosis by regulating spastin
            to correct microtubule-kinetochore misconnection.
REFERENCE   3  (bases 1 to 4945)
  AUTHORS   Liu,Q., Yang,H., Luo,J., Peng,C., Wang,K., Zhang,G., Lin,H. and
            Ji,Z.
  TITLE     14-3-3 protein augments the protein stability of phosphorylated
            spastin and promotes the recovery of spinal cord injury through its
            agonist intervention
  JOURNAL   Elife 12, 90184 (2024)
   PUBMED   38231910
  REMARK    GeneRIF: 14-3-3 protein augments the protein stability of
            phosphorylated spastin and promotes the recovery of spinal cord
            injury through its agonist intervention.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4945)
  AUTHORS   Ho,K.H., Candat,A., Scarpetta,V., Faucourt,M., Weill,S., Salio,C.,
            D'Este,E., Meschkat,M., Wurm,C.A., Kneussel,M., Janke,C.,
            Magiera,M.M., Genovesio,A., Meunier,A., Sassoe-Pognetto,M.,
            Brill,M.S., Spassky,N. and Patrizi,A.
  TITLE     Choroid plexuses carry nodal-like cilia that undergo axoneme
            regression from early adult stage
  JOURNAL   Dev Cell 58 (23), 2641-2651 (2023)
   PUBMED   37890489
REFERENCE   5  (bases 1 to 4945)
  AUTHORS   Cheers,S.R., O'Connor,A.E., Johnson,T.K., Merriner,D.J.,
            O'Bryan,M.K. and Dunleavy,J.E.M.
  TITLE     Spastin is an essential regulator of male meiosis, acrosome
            formation, manchette structure and nuclear integrity
  JOURNAL   Development 150 (6) (2023)
   PUBMED   36971361
  REMARK    GeneRIF: Spastin is an essential regulator of male meiosis,
            acrosome formation, manchette structure and nuclear integrity.
REFERENCE   6  (bases 1 to 4945)
  AUTHORS   Claudiani,P., Riano,E., Errico,A., Andolfi,G. and Rugarli,E.I.
  TITLE     Spastin subcellular localization is regulated through usage of
            different translation start sites and active export from the
            nucleus
  JOURNAL   Exp Cell Res 309 (2), 358-369 (2005)
   PUBMED   16026783
REFERENCE   7  (bases 1 to 4945)
  AUTHORS   Fink,J.K. and Rainier,S.
  TITLE     Hereditary spastic paraplegia: spastin phenotype and function
  JOURNAL   Arch Neurol 61 (6), 830-833 (2004)
   PUBMED   15210518
  REMARK    Review article
REFERENCE   8  (bases 1 to 4945)
  AUTHORS   Stryke,D., Kawamoto,M., Huang,C.C., Johns,S.J., King,L.A.,
            Harper,C.A., Meng,E.C., Lee,R.E., Yee,A., L'Italien,L.,
            Chuang,P.T., Young,S.G., Skarnes,W.C., Babbitt,P.C. and Ferrin,T.E.
  TITLE     BayGenomics: a resource of insertional mutations in mouse embryonic
            stem cells
  JOURNAL   Nucleic Acids Res 31 (1), 278-281 (2003)
   PUBMED   12520002
REFERENCE   9  (bases 1 to 4945)
  AUTHORS   Charvin,D., Cifuentes-Diaz,C., Fonknechten,N., Joshi,V., Hazan,J.,
            Melki,J. and Betuing,S.
  TITLE     Mutations of SPG4 are responsible for a loss of function of
            spastin, an abundant neuronal protein localized in the nucleus
  JOURNAL   Hum Mol Genet 12 (1), 71-78 (2003)
   PUBMED   12490534
REFERENCE   10 (bases 1 to 4945)
  AUTHORS   Hazan,J., Fonknechten,N., Mavel,D., Paternotte,C., Samson,D.,
            Artiguenave,F., Davoine,C.S., Cruaud,C., Durr,A., Wincker,P.,
            Brottier,P., Cattolico,L., Barbe,V., Burgunder,J.M.,
            Prud'homme,J.F., Brice,A., Fontaine,B., Heilig,B. and
            Weissenbach,J.
  TITLE     Spastin, a new AAA protein, is altered in the most frequent form of
            autosomal dominant spastic paraplegia
  JOURNAL   Nat Genet 23 (3), 296-303 (1999)
   PUBMED   10610178
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC169506.1.
            
            On Nov 14, 2022 this sequence version replaced NM_001162870.1.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript 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 :: AK129282.1, SRR13861890.71995.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-706               AC169506.1         144214-144919
            707-793             AC169506.1         157424-157510
            794-877             AC169506.1         161560-161643
            878-973             AC169506.1         164728-164823
            974-1161            AC169506.1         172722-172909
            1162-1295           AC169506.1         174302-174435
            1296-1389           AC169506.1         174666-174759
            1390-1464           AC169506.1         176904-176978
            1465-1536           AC169506.1         177733-177804
            1537-1612           AC169506.1         178758-178833
            1613-1704           AC169506.1         179137-179228
            1705-1784           AC169506.1         179597-179676
            1785-1827           AC169506.1         180557-180599
            1828-1907           AC169506.1         182515-182594
            1908-1978           AC169506.1         187444-187514
            1979-2019           AC169506.1         192508-192548
            2020-4945           AC169506.1         193664-196589
FEATURES             Location/Qualifiers
     source          1..4945
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="17"
                     /map="17 45.64 cM"
     gene            1..4945
                     /gene="Spast"
                     /gene_synonym="mKIAA1083; Spg4"
                     /note="spastin"
                     /db_xref="GeneID:50850"
                     /db_xref="MGI:MGI:1858896"
     exon            1..706
                     /gene="Spast"
                     /gene_synonym="mKIAA1083; Spg4"
                     /inference="alignment:Splign:2.1.0"
     CDS             298..2142
                     /gene="Spast"
                     /gene_synonym="mKIAA1083; Spg4"
                     /EC_number="5.6.1.1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     spastic paraplegia 4 homolog"
                     /codon_start=1
                     /product="spastin isoform 1"
                     /protein_id="NP_001156342.1"
                     /db_xref="CCDS:CCDS50181.1"
                     /db_xref="GeneID:50850"
                     /db_xref="MGI:MGI:1858896"
                     /translation="MSSPAGRRKKKGSGGASPAPARPPPPAAVPAPAAGPAPAAGSPP
                     KRNPSSFSSPLVVGFALLRLLACHLGLLFAWLCQRFSRALMAAKRSSGTAPAPASPSP
                     PEPGPGGEAESVRVFHKQAFEYISIALRIDEEEKAGQKEQAVEWYKKGIEELEKGIAV
                     IVTGQGEQYERARRLQAKMMTNLVMAKDRLQLLEKLQPVLQFSKSQTDVYNESTNLTC
                     RNGHLQSESGAVPKRKDPLTHASNSLPRSKTVLKSGSAGLSGHHRAPSCSGLSMVSGA
                     RPGPGPAATTHKGTPKPNRTNKPSTPTTAVRKKKDLKNFRNVDSNLANLIMNEIVDNG
                     TAVKFDDIAGQELAKQALQEIVILPSLRPELFTGLRAPARGLLLFGPPGNGKTMLAKA
                     VAAESNATFFNISAASLTSKYVGEGEKLVRALFAVARELQPSIIFIDEVDSLLCERRE
                     GEHDASRRLKTEFLIEFDGVQSAGDDRVLVMGATNRPQELDEAVLRRFIKRVYVSLPN
                     EETRLLLLKNLLCKQGSPLTQKELAQLARMTDGYSGSDLTALAKDAALGPIRELKPEQ
                     VKNMSASEMRNIRLSDFTESLKKIKRSVSPQTLEAYIRWNKDFGDTTV"
     exon            707..793
                     /gene="Spast"
                     /gene_synonym="mKIAA1083; Spg4"
                     /inference="alignment:Splign:2.1.0"
     exon            794..877
                     /gene="Spast"
                     /gene_synonym="mKIAA1083; Spg4"
                     /inference="alignment:Splign:2.1.0"
     exon            878..973
                     /gene="Spast"
                     /gene_synonym="mKIAA1083; Spg4"
                     /inference="alignment:Splign:2.1.0"
     exon            974..1161
                     /gene="Spast"
                     /gene_synonym="mKIAA1083; Spg4"
                     /inference="alignment:Splign:2.1.0"
     exon            1162..1295
                     /gene="Spast"
                     /gene_synonym="mKIAA1083; Spg4"
                     /inference="alignment:Splign:2.1.0"
     exon            1296..1389
                     /gene="Spast"
                     /gene_synonym="mKIAA1083; Spg4"
                     /inference="alignment:Splign:2.1.0"
     exon            1390..1464
                     /gene="Spast"
                     /gene_synonym="mKIAA1083; Spg4"
                     /inference="alignment:Splign:2.1.0"
     exon            1465..1536
                     /gene="Spast"
                     /gene_synonym="mKIAA1083; Spg4"
                     /inference="alignment:Splign:2.1.0"
     exon            1537..1612
                     /gene="Spast"
                     /gene_synonym="mKIAA1083; Spg4"
                     /inference="alignment:Splign:2.1.0"
     exon            1613..1704
                     /gene="Spast"
                     /gene_synonym="mKIAA1083; Spg4"
                     /inference="alignment:Splign:2.1.0"
     exon            1705..1784
                     /gene="Spast"
                     /gene_synonym="mKIAA1083; Spg4"
                     /inference="alignment:Splign:2.1.0"
     exon            1785..1827
                     /gene="Spast"
                     /gene_synonym="mKIAA1083; Spg4"
                     /inference="alignment:Splign:2.1.0"
     exon            1828..1907
                     /gene="Spast"
                     /gene_synonym="mKIAA1083; Spg4"
                     /inference="alignment:Splign:2.1.0"
     exon            1908..1978
                     /gene="Spast"
                     /gene_synonym="mKIAA1083; Spg4"
                     /inference="alignment:Splign:2.1.0"
     exon            1979..2019
                     /gene="Spast"
                     /gene_synonym="mKIAA1083; Spg4"
                     /inference="alignment:Splign:2.1.0"
     exon            2020..4945
                     /gene="Spast"
                     /gene_synonym="mKIAA1083; Spg4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2292..2297
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Spast"
                     /gene_synonym="mKIAA1083; Spg4"
                     /note="hexamer: AATAAA"
     polyA_site      2316
                     /gene="Spast"
                     /gene_synonym="mKIAA1083; Spg4"
                     /note="major polyA site"
     regulatory      4917..4922
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Spast"
                     /gene_synonym="mKIAA1083; Spg4"
                     /note="hexamer: AATAAA"
     polyA_site      4945
                     /gene="Spast"
                     /gene_synonym="mKIAA1083; Spg4"
                     /note="major polyA site"
ORIGIN      
        1 gcagcgaggt gccagcggcc caggggacag aaggaaagga ggggcaggag ccaccggccg
       61 cggcgggagg aggaggagga ggaggaggag acggggttgt gctcctgggc agctgaggag
      121 cgaggggcgg ggccggcgag cggcgcgtgc aggtgccagg ctcccgggct ccggctggcg
      181 cgcgagcggc tccgtgggcc cccgccgccg cagtggcagt ggccgccgcc gccgccgctt
      241 ggtcgccgtc ggtctgcggg aagcgggtta tggcggcggc ggcagtggga gctgtgaatg
      301 agttctccgg ccggacgacg gaagaagaaa ggctcgggcg gcgcgagccc ggcgcccgcc
      361 aggcctccgc cccccgccgc ggtccccgcc cctgccgccg gcccggcccc tgcggccggc
      421 tcgccgccta agcggaaccc gtcttctttc tcgtccccgc tggtcgtcgg cttcgccctg
      481 ctgcgcctgc tggcctgcca cctggggctc ctcttcgcgt ggctctgcca gcgcttctcc
      541 cgcgccctca tggccgccaa gaggagctcc gggaccgcgc cggcgcccgc ctcgccctcg
      601 cccccagagc ccggaccggg tggcgaggcc gagagcgtcc gcgtcttcca caagcaggcc
      661 ttcgagtaca tctccattgc cctgcgcatc gacgaggaag agaaagcagg acagaaggaa
      721 caagctgtgg aatggtataa gaaaggtatc gaagaactgg aaaaaggaat cgctgttata
      781 gttacgggcc aaggtgaaca gtatgaaaga gctagacgtc ttcaagccaa aatgatgact
      841 aatttagtta tggccaagga ccgtttacaa cttctagaga agctgcaacc agttttgcaa
      901 ttttccaagt cacagacgga cgtctataac gagagtacta acctgacatg ccgcaatgga
      961 catctccagt cagaaagtgg agcagttccg aagaggaaag accccttaac acatgctagt
     1021 aattcattgc ctcgatcaaa aactgtcctg aaaagtggct ccgcagggct ctccggtcac
     1081 cacagggcgc ctagttgcag tggtttgtcc atggtttctg gagcaagacc gggacctggt
     1141 cctgcagcta ccacacataa gggtactcca aaaccaaata gaaccaacaa accttctact
     1201 cccacaactg cagttcggaa aaagaaagac ttgaaaaatt ttaggaatgt ggacagcaat
     1261 cttgctaacc ttataatgaa tgaaattgtt gacaatggga cagctgttaa gtttgatgac
     1321 atagccgggc aggagctggc aaagcaagcg ctgcaggaga ttgtcatcct tccttctctg
     1381 cggcctgagt tgttcacagg gctcagagct cctgctagag gcttgttact cttcggtccg
     1441 ccaggaaacg gaaaaacaat gctggctaaa gcagtagctg cagagtctaa tgcgaccttt
     1501 ttcaacataa gtgctgccag tttaacttca aaatatgtgg gagaaggaga gaaattggtg
     1561 agagctctct ttgctgtggc tcgagaactt caaccatcta taatttttat agatgaagtt
     1621 gacagtcttt tgtgtgagag acgggaaggg gagcacgacg ctagcagacg gctaaagacg
     1681 gaatttttaa tagaatttga cggggtgcaa tctgctggag atgacagagt acttgtaatg
     1741 ggtgcaacta acaggcccca agagcttgat gaagctgttc tcaggcgttt cattaaacgg
     1801 gtatatgtgt ccttaccaaa tgaggagaca agactccttc tgcttaaaaa cctgttgtgt
     1861 aaacaaggaa gtccactgac ccaaaaagaa ctcgcacagc ttgctagaat gaccgatgga
     1921 tactctggaa gtgatctgac cgctttggcc aaggatgcag ccctgggtcc tatccgagaa
     1981 ctgaagccag agcaggtgaa gaatatgtct gccagtgaga tgagaaatat tcgattatct
     2041 gacttcacag aatccttaaa aaagataaaa cgcagtgtga gtcctcagac cttagaagca
     2101 tacatacgct ggaacaagga ttttggagac accactgttt aaaggaatgg atgcctctgt
     2161 gagcccatag aacatcgcac ttcacaggaa acaagagctt tggctacagg aacccagact
     2221 tcgtttacag gacgttttag agttttcatt tttgtgcacc aaacttgaag aggaacaaga
     2281 agacagacct aaataaaata tgcaatatga atggaatttt tgttcaaggc cttcttgcgt
     2341 gatggtgatg gttttgtttt ctcagtgggc actgttagtt agagcacagc aaaaacagat
     2401 tctggttcat tactgattat aatcattctg taaataataa tttgtacatt gcatccagat
     2461 gacagtattg cagagacagt gggtggtgga agacacagag ccctcccccc ggtgtctgtc
     2521 tcctggtgtc tgtcttgcag cagtctggtt tctggtttcc tgtcctactg ttccttagct
     2581 gtatccctgt gattgggata gcaagcgttc tgagctcttc ctgcttcctt accagctcag
     2641 tgtgccaagt ggaaatcttc ccatctgcag tgagagctgt agtgagactc ttgtccacct
     2701 ggatacacaa ccattaaaca cttagtgagt tcttcacctg gatacacaac cattagacac
     2761 ttagtgggtt ctttcacatt ctgtttttct cttttattgc cttgctgcca aacagtttag
     2821 aaagcaactt aatagcaaca gcaagagaaa atgtggcaca accagggttt gagagtttga
     2881 gtcactctgt gtagcatgtg catcagtcct tgtgtgccct gcagtatttt tttctaatat
     2941 gccagaaatc cactgtagac ttaacttact ccatctggaa ttcatttttg ttgaagttat
     3001 tctaatactt tagagagcca gttttaactc ataaattgag gtaccagtgt gagagaaggg
     3061 acatattagg agctaagaca tttctaactt attgcttatc actttcttac tgtttacaga
     3121 caactaaatg ccagtggcac taccacctct actaattact gtcccttcaa tgaaacttaa
     3181 aataccgaat ttttctacac ggcatatgtt ttataggttt cttgtgctta ctttgtaact
     3241 aaaaagcgct agcctaatgg tctacctttt gtttctgtaa aatgtatagt aattcgttgt
     3301 tgtttgtgta aatatggctg gacttttatt ataaaaatgc attataggaa gtagaggctc
     3361 atgtgaggcc ttttaagaac tgtataaagg caaatagata tttgccatta gtttactggt
     3421 taaaagtttg tttacagaat ttttctttgg tgcttaaacg atgctatgta aaacttcatg
     3481 ggtagaaggg ataattctgt ggtagcaaca ccaacatctc atgtaagaaa catgtctgag
     3541 aaaacatact aaaatccttg ctctttcccc ctctttcccc cagataaaat ttttatgata
     3601 aagacataca tcctcaattt tacccttgct cttgttaaag atttattact taaatataga
     3661 agatggatta tttcttttcc taggatcata tgctgtttat agctgtaatt taaatcatat
     3721 ctcttaatta tgattttaga catccctgga tcataaaaat gaagttttga tcaataggaa
     3781 aacaaattta accaaagctg tgcatagttt ttgttgtggg cagtgtcttt ttaaggtctc
     3841 aaatgttaat gcatcagtta taaaatactg atagtcccac ccggtgatgg tgcgaggaac
     3901 tgcagcagtc ctaagcagac atctacaatc aggctctaaa gctgcaccgc tttcacttag
     3961 gaggggcagt aacattcccc ctgtttatgt attaagacag gcatcagctc aatggttaaa
     4021 cagaagagcc tttaagatca gggttcattc ttgattcttt aaggacaaat tttaggtggt
     4081 aaaaatttta aatgtctaaa agatacaaaa tgaagttaac ccaaaactca aagttattgc
     4141 tgtgtgactg tccatcactc actgtagaga agcacctctg ttcatcaggt cgtaggttca
     4201 gctcctgtta atgttttctg tgatgctgta tgacccaggt agattgtagg ccattttgtt
     4261 actgtctttt aagatagggt ttcatggagc ctaagctggc ctagaactca atgggtagcc
     4321 tataaataaa taccttaaac tgatcttcat gcctgcatct cccaagtgct gggggtgctg
     4381 ctggtgtgca tcccacatca ggatgtttgc tctttttcag atagaagttg ctgggatttc
     4441 caaattaaca ttagattttt gtgttgagct ctgtttactg ttgaagataa tgtttaaata
     4501 ataaggattg gtagctcatg ttaacatgac agagtccttg taagctcggt gaacttactg
     4561 atcacctaac tgagccaaag gaaagactca atacaatctt tccaaatctg ctagggctac
     4621 aaaacttttc tgagactaga tgcccattgg atttattttt gtctctttgc gtttaacagg
     4681 acaaacagaa tttgaaatta catgtatgtg gcattctttg tttatactgt aaaattgttt
     4741 atatatcata caaaagctaa ttctttgata gactgaactg cttaatggtt tgctttttgt
     4801 tttcttaagt caggttttcc tttaaatgtc tgtctcagtt ttagtcttac ttttacttct
     4861 gcgaagcaaa tgacttaaag ggtgcataca gctacataac gtggggtttt gttgtaaata
     4921 aatgacaaac tttgttttgc cttaa
//
