LOCUS       NM_005871               4310 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens survival motor neuron domain containing 1 (SMNDC1),
            mRNA.
ACCESSION   NM_005871
VERSION     NM_005871.4
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 4310)
  AUTHORS   Khoroshkin,M., Buyan,A., Dodel,M., Navickas,A., Yu,J., Trejo,F.,
            Doty,A., Baratam,R., Zhou,S., Lee,S.B., Joshi,T., Garcia,K.,
            Choi,B., Miglani,S., Subramanyam,V., Modi,H., Carpenter,C.,
            Markett,D., Corces,M.R., Mardakheh,F.K., Kulakovskiy,I.V. and
            Goodarzi,H.
  TITLE     Systematic identification of post-transcriptional regulatory
            modules
  JOURNAL   Nat Commun 15 (1), 7872 (2024)
   PUBMED   39251607
  REMARK    Erratum:[Nat Commun. 2024 Oct 28;15(1):9277. doi:
            10.1038/s41467-024-52903-4.. PMID: 39468017]
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4310)
  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   3  (bases 1 to 4310)
  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   4  (bases 1 to 4310)
  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   5  (bases 1 to 4310)
  AUTHORS   Ishida,Y.I., Miyao,S., Saito,M., Hiraishi,N. and Nagahama,M.
  TITLE     Interactome analysis of the Tudor domain-containing protein SPF30
            which associates with the MTR4-exosome RNA-decay machinery under
            the regulation of AAA-ATPase NVL2
  JOURNAL   Int J Biochem Cell Biol 132, 105919 (2021)
   PUBMED   33422691
  REMARK    GeneRIF: Interactome analysis of the Tudor domain-containing
            protein SPF30 which associates with the MTR4-exosome RNA-decay
            machinery under the regulation of AAA-ATPase NVL2.
REFERENCE   6  (bases 1 to 4310)
  AUTHORS   Narayanan,U., Achsel,T., Luhrmann,R. and Matera,A.G.
  TITLE     Coupled in vitro import of U snRNPs and SMN, the spinal muscular
            atrophy protein
  JOURNAL   Mol Cell 16 (2), 223-234 (2004)
   PUBMED   15494309
REFERENCE   7  (bases 1 to 4310)
  AUTHORS   Rappsilber,J., Ajuh,P., Lamond,A.I. and Mann,M.
  TITLE     SPF30 is an essential human splicing factor required for assembly
            of the U4/U5/U6 tri-small nuclear ribonucleoprotein into the
            spliceosome
  JOURNAL   J Biol Chem 276 (33), 31142-31150 (2001)
   PUBMED   11331295
REFERENCE   8  (bases 1 to 4310)
  AUTHORS   Meister,G., Hannus,S., Plottner,O., Baars,T., Hartmann,E.,
            Fakan,S., Laggerbauer,B. and Fischer,U.
  TITLE     SMNrp is an essential pre-mRNA splicing factor required for the
            formation of the mature spliceosome
  JOURNAL   EMBO J 20 (9), 2304-2314 (2001)
   PUBMED   11331595
REFERENCE   9  (bases 1 to 4310)
  AUTHORS   Talbot,K., Miguel-Aliaga,I., Mohaghegh,P., Ponting,C.P. and
            Davies,K.E.
  TITLE     Characterization of a gene encoding survival motor neuron
            (SMN)-related protein, a constituent of the spliceosome complex
  JOURNAL   Hum Mol Genet 7 (13), 2149-2156 (1998)
   PUBMED   9817934
REFERENCE   10 (bases 1 to 4310)
  AUTHORS   Neubauer,G., King,A., Rappsilber,J., Calvio,C., Watson,M., Ajuh,P.,
            Sleeman,J., Lamond,A. and Mann,M.
  TITLE     Mass spectrometry and EST-database searching allows
            characterization of the multi-protein spliceosome complex
  JOURNAL   Nat Genet 20 (1), 46-50 (1998)
   PUBMED   9731529
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BQ694303.1, BC011234.1 and
            AL360182.15.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_005871.3.
            
            Summary: This gene is a paralog of SMN1 gene, which encodes the
            survival motor neuron protein, mutations in which are cause of
            autosomal recessive proximal spinal muscular atrophy. The protein
            encoded by this gene is a nuclear protein that has been identified
            as a constituent of the spliceosome complex. This gene is
            differentially expressed, with abundant levels in skeletal muscle,
            and may share similar cellular function as the SMN1 gene. [provided
            by RefSeq, Jul 2008].
            
            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 :: SRR14038197.1550391.1,
                                           SRR14038193.2094364.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000369603.10/ ENSP00000358616.4
            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
            1-356               BQ694303.1         41-396
            357-2000            BC011234.1         376-2019
            2001-4310           AL360182.15        110315-112624       c
FEATURES             Location/Qualifiers
     source          1..4310
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q25.2"
     gene            1..4310
                     /gene="SMNDC1"
                     /gene_synonym="SMNR; SPF30; TDRD16C"
                     /note="survival motor neuron domain containing 1"
                     /db_xref="GeneID:10285"
                     /db_xref="HGNC:HGNC:16900"
                     /db_xref="MIM:603519"
     exon            1..173
                     /gene="SMNDC1"
                     /gene_synonym="SMNR; SPF30; TDRD16C"
                     /inference="alignment:Splign:2.1.0"
     CDS             174..890
                     /gene="SMNDC1"
                     /gene_synonym="SMNR; SPF30; TDRD16C"
                     /note="splicing factor 30, survival of motor
                     neuron-related; SMN-related protein; 30 kDa splicing
                     factor SMNrp; survival motor neuron domain-containing
                     protein 1; tudor domain containing 16C"
                     /codon_start=1
                     /product="survival of motor neuron-related-splicing factor
                     30"
                     /protein_id="NP_005862.1"
                     /db_xref="CCDS:CCDS7565.1"
                     /db_xref="GeneID:10285"
                     /db_xref="HGNC:HGNC:16900"
                     /db_xref="MIM:603519"
                     /translation="MSEDLAKQLASYKAQLQQVEAALSGNGENEDLLKLKKDLQEVIE
                     LTKDLLSTQPSETLASSDSFASTQPTHSWKVGDKCMAVWSEDGQCYEAEIEEIDEENG
                     TAAITFAGYGNAEVTPLLNLKPVEEGRKAKEDSGNKPMSKKEMIAQQREYKKKKALKK
                     AQRIKELEQEREDQKVKWQQFNNRAYSKNKKGQVKRSIFASPESVTGKVGVGTCGIAD
                     KPMTQYQDTSKYNVRHLMPQ"
     exon            174..293
                     /gene="SMNDC1"
                     /gene_synonym="SMNR; SPF30; TDRD16C"
                     /inference="alignment:Splign:2.1.0"
     exon            294..436
                     /gene="SMNDC1"
                     /gene_synonym="SMNR; SPF30; TDRD16C"
                     /inference="alignment:Splign:2.1.0"
     exon            437..598
                     /gene="SMNDC1"
                     /gene_synonym="SMNR; SPF30; TDRD16C"
                     /inference="alignment:Splign:2.1.0"
     exon            599..752
                     /gene="SMNDC1"
                     /gene_synonym="SMNR; SPF30; TDRD16C"
                     /inference="alignment:Splign:2.1.0"
     exon            753..4310
                     /gene="SMNDC1"
                     /gene_synonym="SMNR; SPF30; TDRD16C"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1110..1115
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMNDC1"
                     /gene_synonym="SMNR; SPF30; TDRD16C"
                     /note="hexamer: AATAAA"
     polyA_site      1146
                     /gene="SMNDC1"
                     /gene_synonym="SMNR; SPF30; TDRD16C"
                     /note="major polyA site"
     polyA_site      1156
                     /gene="SMNDC1"
                     /gene_synonym="SMNR; SPF30; TDRD16C"
                     /note="major polyA site"
     regulatory      1977..1982
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMNDC1"
                     /gene_synonym="SMNR; SPF30; TDRD16C"
                     /note="hexamer: AATAAA"
     polyA_site      2000
                     /gene="SMNDC1"
                     /gene_synonym="SMNR; SPF30; TDRD16C"
                     /note="major polyA site"
     regulatory      2457..2462
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMNDC1"
                     /gene_synonym="SMNR; SPF30; TDRD16C"
                     /note="hexamer: AATATA"
     polyA_site      2476
                     /gene="SMNDC1"
                     /gene_synonym="SMNR; SPF30; TDRD16C"
     regulatory      2538..2543
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMNDC1"
                     /gene_synonym="SMNR; SPF30; TDRD16C"
                     /note="hexamer: ATTAAA"
     polyA_site      2559
                     /gene="SMNDC1"
                     /gene_synonym="SMNR; SPF30; TDRD16C"
     regulatory      4102..4107
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMNDC1"
                     /gene_synonym="SMNR; SPF30; TDRD16C"
                     /note="hexamer: CATAAA"
     polyA_site      4127
                     /gene="SMNDC1"
                     /gene_synonym="SMNR; SPF30; TDRD16C"
     regulatory      4268..4273
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMNDC1"
                     /gene_synonym="SMNR; SPF30; TDRD16C"
                     /note="hexamer: AAGAAA"
     polyA_site      4288
                     /gene="SMNDC1"
                     /gene_synonym="SMNR; SPF30; TDRD16C"
ORIGIN      
        1 gttcctccct tccccctcgc cgccgaccga gttcttcctt ttcagaccgg gtcgccttgc
       61 tgtcgtcgcg gtgattttcc tgctactgct actgctgctg ctgccaccgc cactaccact
      121 gggctcattt gccccgaccc cttcccgccg ccccgccccc agccccacac aagatgtcag
      181 aggatttagc aaagcagctg gcaagctaca aagctcagct ccagcaagtt gaagctgcat
      241 tatctggaaa tggagaaaat gaagatttgc taaaattgaa gaaagattta caagaagtta
      301 tagaactaac caaagacctt ctgtcaactc aaccttctga gacgcttgca agttcagaca
      361 gttttgcttc tactcaacct actcattcat ggaaagtagg agacaagtgt atggcagtct
      421 ggagtgaaga tggacagtgt tatgaagcgg agattgagga gatagatgaa gaaaatggca
      481 ccgctgcaat cacctttgct ggttatggca atgctgaagt gactccactg ttgaacctca
      541 agcctgtaga agaaggaagg aaggcaaagg aggacagtgg caacaaaccc atgtcaaaaa
      601 aagaaatgat tgcccagcag cgtgaatata aaaagaagaa agctttgaaa aaagctcaga
      661 gaataaaaga acttgagcag gaaagagagg accagaaagt gaaatggcaa caattcaaca
      721 acagagccta ttctaaaaac aaaaaaggcc aggtaaagag gagtattttt gcttcacctg
      781 agagtgtgac tggtaaagtt ggagtaggaa cctgtggaat tgctgataaa cctatgacac
      841 aatatcaaga tacctctaaa tacaatgtca ggcatttgat gcctcaataa tcagaaaaac
      901 tgttggattt catctctgca gggctttaca tttacctttt tatccttata tttttctaaa
      961 ggtaaattat ttgttagatg agtaagcaag ataccattgt cgtcattggt tggcttcagt
     1021 agaatgaaac gtgaagaaat tgcatttgat aactgctatt catttaactt ttctcattat
     1081 cagtaccacg gttccctcaa agtttgttga ataaagcaac ttttgtagat gctgtttcat
     1141 acagcactta gatgaattat tgatcttcct aatatcaggc gcctacttaa cctatggtgt
     1201 gtactttttg taagttgtaa cttgaaattt tcagatgctt tgaacttgac acatactcta
     1261 gcaattcatt ggaacaccaa ggcaaaaaca ccaacctgct aaaagagatc ttttcatttt
     1321 tcttattttc agctttaaaa cttagctgtc gttcagttaa gcttaaagat aggttaattt
     1381 gtaaatggca aagtttgttt tgaggttttt cctcaataac ttgtttccca ggcctattag
     1441 gccatctcta aaattgatct agctgtttta tttttatgta ctcttagttt tatgtaagaa
     1501 accttaggat gagctccctt ttctaaggtg tttttgtttt ttgtatgttt gcttttttcc
     1561 tgttttttgt tttttccatt tacggcagtg gtaccatgtt ttggatgtgt gatgtttata
     1621 tgggagaaca aaaagctgat gtatagccct gtatacagtg tagatactat ttttgtaaaa
     1681 acacaaggct aaattaatga acaagaatac tgaatatttc atcattaaaa atttcttgta
     1741 tttcttgtgc attaatctga cgataatttc cctgtatatt atgttcattt agctgtttgt
     1801 aatttttgtt aattagatca ggttgtctgc atttgttggt gtaagtgaac atcatcacag
     1861 ttatcctgag ttgagtttaa gccaaataca tgcatagaaa agggtcttcc tattaatgga
     1921 agaaggtaat ttttaggatg tgtattattt cagttttgta tgtttaactt ttattaaata
     1981 aagtgttttt aaaatctcca gggtgtgtta acaaaagggt aaagtcttta gctgtcagca
     2041 cttaaagcaa ttaaacctcc aagtacttgc acacggcatt catgcaagag aatactgagt
     2101 gtgtgagagg tttcagtaaa tgcttaagta ttccttccat tagaagaaat tggatcttaa
     2161 agggcaaacc aggcctgtgt ttataggatg tcctcatttt aatgggtgtt tgtagatttt
     2221 tggtggaagg ggaaaataag tttttatttc atgaatttta atttttttta taaattgaaa
     2281 cttaggacag tggtaggtag aattcttcat ctctcccttc cacacccacc cctctcaacc
     2341 caggagggtc actttttctt catataattc gtggccacag ggtaggacac aaaggacaga
     2401 aaggcacaaa ctgcagtaga aaaagggttt gttgaagcct gtaaacttct aaataaaata
     2461 tactttgtta ttgtaacatc ttaagagctt atcaataatc aagagtagcc ttgatggatt
     2521 gcaagagaat cctttgaatt aaaaagcact gggaagaaat ttggtgtcat tgtgtgaccc
     2581 cagaaaatgg ttgttgagat taccttggtg gtattagaat agtaattcac ttgatgtttg
     2641 tgtaggcagg actgttaaca gtcttgtccc tcttttgacc ctggggggcc ttagttttcc
     2701 cagaggactt tgcagtagga gagagaaaaa gaataaaagt gaccttaaaa aaaaatgttt
     2761 tgaaaataga cctttagaat gaaatcagca acctttgtgt caaagatcta gatgtggccc
     2821 tttggaaaat cctagtgtca ggatgatgtt tgtgtctctg aactaagagg caggactcct
     2881 ggggagacta cctgtcacag tgtgatactg aatttgagaa gatgctcaat gagaagcatg
     2941 atacccacag tattttacag ttgaaggtgg ttaagctctc tatattctga aacaaaatat
     3001 aaaccttgac cttaaaaagc tttgttagaa aatttaatgt agagttttcc ccattaagaa
     3061 aggagacttg aagctttgaa actgtgacag actgaaatgt taaatattga gttatgggcc
     3121 cctaagtaga aatggttgca tgtaacttac caaagcttga cgtttgactg ttgttaccat
     3181 ttcaaggaaa gaacagtcct aacctcccga aaataaaatg ttgagtttta gtggtaatca
     3241 caggtaacaa gtgctatttt aattaacatg tagggaggcc acagagcata ctggaaaaca
     3301 gcaaggactc tagagccaga ctagtgtttg tttattacca tttattacct gtgtattccc
     3361 atttattacc tgtgtattcc tctgattcat ttttctcagc tgtagaatgg aaaaatctgt
     3421 ttcagtttta aggattgaat tcaaatgtgt aaatagctta agagtatccg gcataagcac
     3481 tatagaagcg tctgctatta ctctgcagag tggcagtggt gaattatctg atattttttc
     3541 cttaacttga atagcaatcc acattacaat ggataacaat acccattgtt tatgatttga
     3601 ggcatccaat tataactgta ttattgaagt gttatcaaat taccaaggct gtagggtata
     3661 tttagtattc ctagttaaag gtttgaacta atttgtatac tagggcatgt ttcttaatgg
     3721 gaagggggtg aaggttataa taaaagtcac ccctaatgct tgtttaaaat taaagaggaa
     3781 tttgtgggcc tgggaccaac cttagactta tccaggccaa ggtatgttgt ttgacgaaca
     3841 ccgcaggtga tcctgatgtg catccccgtc tgagaactgt taactataaa agtttgactt
     3901 tggaaatgaa gaaaaattac cttttagcct aatcatgaag actaggcgtc aaaccaaaac
     3961 aagatgcatc agttactgta gcaacacatt ttttttaaaa aattgcttgt tgtcacaatg
     4021 aagggtgtgt gtctgtttcc agtatgcaat tctaatgcca aatgtctgcc ttaaaaatag
     4081 caaaggagac catcaggtta acataaagga aaactgtagt tgtgtgactc atgtgtctgt
     4141 agattgtaat tttataatta caatttttat aagataaaaa actaccagtt gtaaattcaa
     4201 ccaaaaaaaa tttaaagctt tgatttagct ttttgcttta acttgggtag taactgaaat
     4261 ataaaggaag aaaatctatt aaaaccaatg aggttttata tttttttaaa
//
