LOCUS       NM_172429               2186 bp    mRNA    linear   ROD 17-SEP-2024
DEFINITION  Mus musculus survival motor neuron domain containing 1 (Smndc1),
            transcript variant 1, mRNA.
ACCESSION   NM_172429
VERSION     NM_172429.3
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 2186)
  AUTHORS   Belleville,A.E., Thomas,J.D., Tonnies,J., Gabel,A.M., Borrero
            Rossi,A., Singh,P., Queitsch,C. and Bradley,R.K.
  TITLE     An autoregulatory poison exon in Smndc1 is conserved across
            kingdoms and influences organism growth
  JOURNAL   PLoS Genet 20 (8), e1011363 (2024)
   PUBMED   39150991
  REMARK    GeneRIF: An autoregulatory poison exon in Smndc1 is conserved
            across kingdoms and influences organism growth.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2186)
  AUTHORS   Casteels,T., Bajew,S., Reinis,J., Enders,L., Schuster,M.,
            Fontaine,F., Muller,A.C., Wagner,B.K., Bock,C. and Kubicek,S.
  TITLE     SMNDC1 links chromatin remodeling and splicing to regulate
            pancreatic hormone expression
  JOURNAL   Cell Rep 40 (9), 111288 (2022)
   PUBMED   36044849
  REMARK    GeneRIF: SMNDC1 links chromatin remodeling and splicing to regulate
            pancreatic hormone expression.
REFERENCE   3  (bases 1 to 2186)
  AUTHORS   McAninch,D.S., Heinaman,A.M., Lang,C.N., Moss,K.R., Bassell,G.J.,
            Rita Mihailescu,M. and Evans,T.L.
  TITLE     Fragile X mental retardation protein recognizes a G quadruplex
            structure within the survival motor neuron domain containing 1 mRNA
            5'-UTR
  JOURNAL   Mol Biosyst 13 (8), 1448-1457 (2017)
   PUBMED   28612854
  REMARK    GeneRIF: The results show that SMNDC1 mRNA 5'-UTR forms an
            intramolecular, parallel G quadruplex structure comprised of three
            G quartet planes, which is bound specifically by FMRP both in vitro
            and in mouse brain lysates.
REFERENCE   4  (bases 1 to 2186)
  AUTHORS   Clee,S.M., Yandell,B.S., Schueler,K.M., Rabaglia,M.E.,
            Richards,O.C., Raines,S.M., Kabara,E.A., Klass,D.M., Mui,E.T.,
            Stapleton,D.S., Gray-Keller,M.P., Young,M.B., Stoehr,J.P., Lan,H.,
            Boronenkov,I., Raess,P.W., Flowers,M.T. and Attie,A.D.
  TITLE     Positional cloning of Sorcs1, a type 2 diabetes quantitative trait
            locus
  JOURNAL   Nat Genet 38 (6), 688-693 (2006)
   PUBMED   16682971
REFERENCE   5  (bases 1 to 2186)
  AUTHORS   Taniwaki,T., Haruna,K., Nakamura,H., Sekimoto,T., Oike,Y.,
            Imaizumi,T., Saito,F., Muta,M., Soejima,Y., Utoh,A., Nakagata,N.,
            Araki,M., Yamamura,K. and Araki,K.
  TITLE     Characterization of an exchangeable gene trap using pU-17 carrying
            a stop codon-beta geo cassette
  JOURNAL   Dev Growth Differ 47 (3), 163-172 (2005)
   PUBMED   15840001
REFERENCE   6  (bases 1 to 2186)
  AUTHORS   Powles,N., Babbs,C., Ficker,M., Schimmang,T. and Maconochie,M.
  TITLE     Identification and analysis of genes from the mouse otic vesicle
            and their association with developmental subprocesses through in
            situ hybridization
  JOURNAL   Dev Biol 268 (1), 24-38 (2004)
   PUBMED   15031102
REFERENCE   7  (bases 1 to 2186)
  AUTHORS   Araki,K., Imaizumi,T., Sekimoto,T., Yoshinobu,K., Yoshimuta,J.,
            Akizuki,M., Miura,K., Araki,M. and Yamamura,K.
  TITLE     Exchangeable gene trap using the Cre/mutated lox system
  JOURNAL   Cell Mol Biol (Noisy-le-grand) 45 (5), 737-750 (1999)
   PUBMED   10512203
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CF750765.1, AC133451.14 and AK078834.1.
            
            On Oct 13, 2017 this sequence version replaced NM_172429.2.
            
            Transcript Variant: Variants 1 and 2 encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK078834.1, BC058779.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN01164134, SAMN01164137
                                           [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
            1-30                CF750765.1         1-30
            31-31               AC133451.14        145555-145555       c
            32-63               CF750765.1         32-63
            64-2186             AK078834.1         3-2125
FEATURES             Location/Qualifiers
     source          1..2186
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="19"
                     /map="19 47.67 cM"
     gene            1..2186
                     /gene="Smndc1"
                     /note="survival motor neuron domain containing 1"
                     /db_xref="GeneID:76479"
                     /db_xref="MGI:MGI:1923729"
     exon            1..219
                     /gene="Smndc1"
                     /inference="alignment:Splign:2.1.0"
     CDS             220..936
                     /gene="Smndc1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     survival of motor neuron-related-splicing factor 30;
                     SMN-related protein; 30 kDa splicing factor SMNrp;
                     survival motor neuron domain-containing protein 1"
                     /codon_start=1
                     /product="survival of motor neuron-related-splicing factor
                     30 isoform 1"
                     /protein_id="NP_766017.1"
                     /db_xref="CCDS:CCDS29902.1"
                     /db_xref="GeneID:76479"
                     /db_xref="MGI:MGI:1923729"
                     /translation="MSEDLAKQLASYKAQLQQVEAALSGNGENEDLLKLKKDLQEVIE
                     LTKDLLSTQPSETLASSDSFASTQPTHSWKVGDKCMAVWSEDGQCYEAEIEEIDEENG
                     TAAITFAVYGNAEVTPLLNLKPVEEGRKAKEDSGNKPMSKKEMIAQQREYKKKKALKK
                     AQRIKELEQEREDQKVKWQQFNNRAYSKNKKGQVKRSIFASPESVTGKVGVGTCGIAD
                     KPMTQYQDTSKYNVRHLMPQ"
     exon            220..339
                     /gene="Smndc1"
                     /inference="alignment:Splign:2.1.0"
     exon            340..482
                     /gene="Smndc1"
                     /inference="alignment:Splign:2.1.0"
     exon            483..644
                     /gene="Smndc1"
                     /inference="alignment:Splign:2.1.0"
     exon            645..798
                     /gene="Smndc1"
                     /inference="alignment:Splign:2.1.0"
     exon            799..2186
                     /gene="Smndc1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1987..1992
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Smndc1"
                     /note="hexamer: AATAAA"
     polyA_site      2006
                     /gene="Smndc1"
                     /note="major polyA site"
     regulatory      2166..2171
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Smndc1"
                     /note="hexamer: ATTAAA"
     polyA_site      2186
                     /gene="Smndc1"
ORIGIN      
        1 gagtccgtag gtctcgcgag atctcgctcg ccttgtctct ctctcctcct gcccgaggcc
       61 ggcttctctc ccctccccct cgctggcgga ctttctcctt ttccgaccga ggctcgtcgc
      121 ggcggaaaat ctttcccggc tgcagccgcc cctgacgccg ctcgcctcgc ctcgcctccc
      181 cgacccctgc ccgccgtccc gaccccagcc ccacccaaga tgtcagagga tctagcaaaa
      241 cagttggcta gctacaaagc tcaactccag caagtagaag ctgccctttc tggaaatgga
      301 gaaaatgaag atctattgaa actgaagaag gatttgcaag aagtaataga actgaccaaa
      361 gaccttctgt caactcagcc ttcggagacg ctcgcaagct cagacagttt tgcttctact
      421 cagcccactc attcatggaa agtaggggac aagtgcatgg ccgtgtggag tgaagacgga
      481 cagtgttacg aagcggagat tgaagagata gatgaagaaa atggcaccgc tgcaatcacc
      541 tttgctgttt atggcaatgc cgaagtgacg ccattgctga acctcaagcc tgtagaagaa
      601 ggaaggaagg cgaaagagga cagcggcaac aaacccatgt caaaaaaaga aatgatcgcc
      661 cagcagcgtg aatataaaaa gaaaaaagct ttgaaaaaag cacagagaat aaaagagttg
      721 gagcaggagc gagaggacca gaaggtgaaa tggcagcagt tcaacaacag ggcgtactcc
      781 aagaacaaga aaggccaggt aaagaggagt atttttgctt ctccagaaag tgtaacgggc
      841 aaagttggag taggaacttg tggaattgct gacaagccca tgacacagta tcaagataca
      901 tccaagtaca atgtcaggca tttgatgcct cagtaacctg aaaaactgct gcatttcatc
      961 tctgcagggc tttactttac actctccttt ttatccttgt atttttctaa aggtaactga
     1021 ttgcttagat gctgagtaag gaagatacat tgttgtcatt gtttggcttt ggtagaatga
     1081 aacttgaaga catttgataa ctgctctcat ttaacttcat tactacttac cacagcttcc
     1141 tcagtgtgtt gaacaaggca acttttctag gtaagtgctg cttaaatcag cacttagatg
     1201 acttctgaac gtcaggccca ttgaactgat gttgtgtaga ccgtttctaa gtcctaattt
     1261 ggaattttca gatgctttgc acttgacata ttccaacagt tcattggaac atggaggcaa
     1321 aacgccagcc tgctaaagag agcttcagtt ttacaacctg gccattgtcc agacaagccc
     1381 aagtataggt taatttataa acggcaaagt ttattttgag ggtttttttt tccttgaatt
     1441 acttatttcc tgggcctatt gactcacttt gtattttttg tcattgagtt tgaaatttat
     1501 attaaaaaac caaacaaacc atgtttagga tgtgcgcccc ttctctggtg tttatttggt
     1561 gttttgtatt gttttttcct ttgttgactt cacttgtagt ggtaccattt ttgggatgtg
     1621 tactgtttct atgggaagac aaaagctgat gtacagccct gtgtacagtg tagatactat
     1681 ttttgtaaaa atacaaggct aaattaatga acaagagtac tcagtgtttc atgattaaat
     1741 tttcctgtat ttcttgtgca ttaatctgac cataatttcc ctgtatatta tgttcatgta
     1801 gctgagtttg taatttttat taacgagatc aagttgccag catttgttgg cataagtgaa
     1861 gcaccacagt tatccaagtt gagtttaagc caaaacaaag gtagaaaaaa gggtcttcct
     1921 gttaattgga agaaaataat ttttagagtg tgtgttaatt tcagttttgt atgtttaact
     1981 ttaataaata aagtgttttt aaaatctcca gtgtgttaac aaaggggcgg agccttagac
     2041 ttgtacacag aactacaatg ctaaggctgg taaatggttc acagatcctt aagaattcct
     2101 tcattgggta taagaaatgg agtcataaag gattaattaa tgggcatgta tgcgattatt
     2161 tgtaaattaa attactttgt aaattt
//
