LOCUS       NM_011420               1227 bp    mRNA    linear   ROD 17-DEC-2024
DEFINITION  Mus musculus survival motor neuron 1 (Smn1), transcript variant 1,
            mRNA.
ACCESSION   NM_011420
VERSION     NM_011420.2
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 1227)
  AUTHORS   Sutton,E.R., Beauvais,A., Yaworski,R., De Repentigny,Y., Reilly,A.,
            Alves de Almeida,M.M., Deguise,M.O., Poulin,K.L., Parks,R.J.,
            Schneider,B.L. and Kothary,R.
  TITLE     Liver SMN restoration rescues the Smn2B/- mouse model of spinal
            muscular atrophy
  JOURNAL   EBioMedicine 110, 105444 (2024)
   PUBMED   39515026
REFERENCE   2  (bases 1 to 1227)
  AUTHORS   Salman,B., Bon,E., Delers,P., Cottin,S., Pasho,E., Ciura,S.,
            Sapaly,D. and Lefebvre,S.
  TITLE     Understanding the Role of the SMN Complex Component GEMIN5 and Its
            Functional Relationship with Demethylase KDM6B in the
            Flunarizine-Mediated Neuroprotection of Motor Neuron Disease Spinal
            Muscular Atrophy
  JOURNAL   Int J Mol Sci 25 (18), 10039 (2024)
   PUBMED   39337533
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1227)
  AUTHORS   Adami,R., Pezzotta,M., Cadile,F., Cuniolo,B., Rovati,G.,
            Canepari,M. and Bottai,D.
  TITLE     Physiological Features of the Neural Stem Cells Obtained from an
            Animal Model of Spinal Muscular Atrophy and Their Response to
            Antioxidant Curcumin
  JOURNAL   Int J Mol Sci 25 (15), 8364 (2024)
   PUBMED   39125934
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1227)
  AUTHORS   Hatanaka,F., Suzuki,K., Shojima,K., Yu,J., Takahashi,Y.,
            Sakamoto,A., Prieto,J., Shokhirev,M., Nunez Delicado,E., Rodriguez
            Esteban,C. and Izpisua Belmonte,J.C.
  TITLE     Therapeutic strategy for spinal muscular atrophy by combining gene
            supplementation and genome editing
  JOURNAL   Nat Commun 15 (1), 6191 (2024)
   PUBMED   39048567
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1227)
  AUTHORS   Karafoulidou,E., Kesidou,E., Theotokis,P., Konstantinou,C.,
            Nella,M.K., Michailidou,I., Touloumi,O., Polyzoidou,E.,
            Salamotas,I., Einstein,O., Chatzisotiriou,A., Boziki,M.K. and
            Grigoriadis,N.
  TITLE     Systemic LPS Administration Stimulates the Activation of
            Non-Neuronal Cells in an Experimental Model of Spinal Muscular
            Atrophy
  JOURNAL   Cells 13 (9), 785 (2024)
   PUBMED   38727321
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1227)
  AUTHORS   DiDonato,C.J., Chen,X.N., Noya,D., Korenberg,J.R., Nadeau,J.H. and
            Simard,L.R.
  TITLE     Cloning, characterization, and copy number of the murine survival
            motor neuron gene: homolog of the spinal muscular
            atrophy-determining gene
  JOURNAL   Genome Res 7 (4), 339-352 (1997)
   PUBMED   9110173
REFERENCE   7  (bases 1 to 1227)
  AUTHORS   Viollet,L., Bertrandy,S., Bueno Brunialti,A.L., Lefebvre,S.,
            Burlet,P., Clermont,O., Cruaud,C., Guenet,J.L., Munnich,A. and
            Melki,J.
  TITLE     cDNA isolation, expression, and chromosomal localization of the
            mouse survival motor neuron gene (Smn)
  JOURNAL   Genomics 40 (1), 185-188 (1997)
   PUBMED   9070939
REFERENCE   8  (bases 1 to 1227)
  AUTHORS   Scharf,J.M., Damron,D., Frisella,A., Bruno,S., Beggs,A.H.,
            Kunkel,L.M. and Dietrich,W.F.
  TITLE     The mouse region syntenic for human spinal muscular atrophy lies
            within the Lgn1 critical interval and contains multiple copies of
            Naip exon 5
  JOURNAL   Genomics 38 (3), 405-417 (1996)
   PUBMED   8975718
REFERENCE   9  (bases 1 to 1227)
  AUTHORS   Bussaglia,E., Clermont,O., Tizzano,E., Lefebvre,S., Burglen,L.,
            Cruaud,C., Urtizberea,J.A., Colomer,J., Munnich,A., Baiget,M. et
            al.
  TITLE     A frame-shift deletion in the survival motor neuron gene in Spanish
            spinal muscular atrophy patients
  JOURNAL   Nat Genet 11 (3), 335-337 (1995)
   PUBMED   7581461
REFERENCE   10 (bases 1 to 1227)
  AUTHORS   Lefebvre,S., Burglen,L., Reboullet,S., Clermont,O., Burlet,P.,
            Viollet,L., Benichou,B., Cruaud,C., Millasseau,P., Zeviani,M. et
            al.
  TITLE     Identification and characterization of a spinal muscular
            atrophy-determining gene
  JOURNAL   Cell 80 (1), 155-165 (1995)
   PUBMED   7813012
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CJ058980.1, U77714.1, AI849087.1 and BB059791.1.
            
            On Apr 19, 2007 this sequence version replaced NM_011420.1.
            
            Transcript Variant: This variant (1) encodes the longer 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 :: U63294.1, AK144778.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849375, SAMN00849380
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-183               CJ058980.1         2-184
            184-909             U77714.1           145-870
            910-1222            AI849087.1         15-327              c
            1223-1227           BB059791.1         230-234
FEATURES             Location/Qualifiers
     source          1..1227
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="13"
                     /map="13 52.99 cM"
     gene            1..1227
                     /gene="Smn1"
                     /gene_synonym="Gemin1; Smn"
                     /note="survival motor neuron 1"
                     /db_xref="GeneID:20595"
                     /db_xref="MGI:MGI:109257"
     exon            1..111
                     /gene="Smn1"
                     /gene_synonym="Gemin1; Smn"
                     /inference="alignment:Splign:2.1.0"
     exon            112..183
                     /gene="Smn1"
                     /gene_synonym="Gemin1; Smn"
                     /inference="alignment:Splign:2.1.0"
     exon            184..303
                     /gene="Smn1"
                     /gene_synonym="Gemin1; Smn"
                     /inference="alignment:Splign:2.1.0"
     exon            304..504
                     /gene="Smn1"
                     /gene_synonym="Gemin1; Smn"
                     /inference="alignment:Splign:2.1.0"
     exon            505..651
                     /gene="Smn1"
                     /gene_synonym="Gemin1; Smn"
                     /inference="alignment:Splign:2.1.0"
     exon            652..747
                     /gene="Smn1"
                     /gene_synonym="Gemin1; Smn"
                     /inference="alignment:Splign:2.1.0"
     exon            748..858
                     /gene="Smn1"
                     /gene_synonym="Gemin1; Smn"
                     /inference="alignment:Splign:2.1.0"
     exon            859..909
                     /gene="Smn1"
                     /gene_synonym="Gemin1; Smn"
                     /inference="alignment:Splign:2.1.0"
     exon            910..1227
                     /gene="Smn1"
                     /gene_synonym="Gemin1; Smn"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1198..1203
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Smn1"
                     /gene_synonym="Gemin1; Smn"
                     /note="hexamer: ATTAAA"
     regulatory      1202..1207
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Smn1"
                     /gene_synonym="Gemin1; Smn"
                     /note="hexamer: AATAAA"
     polyA_site      1218
                     /gene="Smn1"
                     /gene_synonym="Gemin1; Smn"
     polyA_site      1222
                     /gene="Smn1"
                     /gene_synonym="Gemin1; Smn"
                     /note="major polyA site"
ORIGIN      
        1 gtcattgagt gagcccggca gcgtccgtgg tagcaggcca tggcgatggg cagtggcgga
       61 gcgggctccg agcaggaaga tacggtgctg ttccggcgtg gcaccggcca gagtgatgat
      121 tctgacattt gggatgatac agcattgata aaagcttatg ataaagctgt ggcttccttt
      181 aagcatgctc taaagaacgg tgacatttgt gaaactccag ataagccaaa aggcacagcc
      241 agaagaaaac ctgccaagaa gaataaaagc caaaagaaga atgccacaac tcccttgaaa
      301 cagtggaaag ttggtgacaa gtgttctgct gtttggtcag aagacggctg catttaccca
      361 gctactatta cgtccattga ctttaagaga gaaacctgtg tcgtggttta tactggatat
      421 ggaaacagag aggagcaaaa cttatctgac ctactttccc cgacctgtga agtagctaat
      481 agtacagaac agaacactca ggagaatgaa agtcaagttt ccacagacga cagtgaacac
      541 tcctccagat cgctcagaag taaagcacac agcaagtcca aagctgctcc gtggacctca
      601 tttcttcctc caccaccccc aatgccaggg tcaggattag gaccaggaaa gccaggtcta
      661 aaattcaacg gcccgccgcc gccgcctcca ctaccccctc cccccttcct gccgtgctgg
      721 atgcccccgt tcccttcagg accaccaata atcccgccac cccctcccat ctctcccgac
      781 tgtctggatg acactgatgc cctgggcagt atgctaatct cttggtacat gagtggctac
      841 cacactggct actatatggg tttcagacaa aataaaaaag aaggaaagtg ctcacataca
      901 aattaagaag ttcagctctg tctcaggaga tggggtgtcg gtgtccctgg tcgacaagaa
      961 cagacgtctc ctcgtcatca gtggactctt ggctaagtgg tgtcgtcatc agcatctccc
     1021 cgctgtggga gtccatccat cctaagtcag cagcagagcg tgcctggggc gtgagcagtt
     1081 ggagggaccg accagtggag tgtgcgtgtc ggaaggcagt ctacccagtc gtgactgagc
     1141 acaaatgtgc aattgtcatt ttcttagcat gtcaagattt ttattaatgc ctttagaatt
     1201 aaataaaagt ccttttttga aatcttg
//
