LOCUS       NM_004175               3466 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens small nuclear ribonucleoprotein D3 polypeptide
            (SNRPD3), transcript variant 1, mRNA.
ACCESSION   NM_004175
VERSION     NM_004175.5
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 3466)
  AUTHORS   Satoh,S., Miyake,K., Adachi,Y., Masuhiro,K., Futami,S., Naito,Y.,
            Shiroyama,T., Koyama,S., Yamaguchi,Y., Konaka,H., Takamatsu,H.,
            Okuzaki,D., Nagatomo,I., Takeda,Y. and Kumanogoh,A.
  TITLE     Cancer-associated SNRPD3 mutation confers resistance to hypoxia,
            which is attenuated by DRP1 inhibition
  JOURNAL   Biochem Biophys Res Commun 696, 149511 (2024)
   PUBMED   38241813
  REMARK    GeneRIF: Cancer-associated SNRPD3 mutation confers resistance to
            hypoxia, which is attenuated by DRP1 inhibition.
REFERENCE   2  (bases 1 to 3466)
  AUTHORS   Salib,A., Jayatilleke,N., Seneviratne,J.A., Mayoh,C., De Preter,K.,
            Speleman,F., Cheung,B.B., Carter,D.R. and Marshall,G.M.
  TITLE     MYCN and SNRPD3 cooperate to maintain a balance of alternative
            splicing events that drives neuroblastoma progression
  JOURNAL   Oncogene 43 (5), 363-377 (2024)
   PUBMED   38049564
  REMARK    GeneRIF: MYCN and SNRPD3 cooperate to maintain a balance of
            alternative splicing events that drives neuroblastoma progression.
REFERENCE   3  (bases 1 to 3466)
  AUTHORS   Lin,J.Q., Khuperkar,D., Pavlou,S., Makarchuk,S., Patikas,N.,
            Lee,F.C., Zbiegly,J.M., Kang,J., Field,S.F., Bailey,D.M.,
            Freeman,J.L., Ule,J., Metzakopian,E., Ruepp,M.D. and Mallucci,G.R.
  TITLE     HNRNPH1 regulates the neuroprotective cold-shock protein RBM3
            expression through poison exon exclusion
  JOURNAL   EMBO J 42 (14), e113168 (2023)
   PUBMED   37248947
REFERENCE   4  (bases 1 to 3466)
  AUTHORS   Yang,F., Bian,T., Zhan,X., Chen,Z., Xing,Z., Larsen,N.A., Zhang,X.
            and Shi,Y.
  TITLE     Mechanisms of the RNA helicases DDX42 and DDX46 in human U2 snRNP
            assembly
  JOURNAL   Nat Commun 14 (1), 897 (2023)
   PUBMED   36797247
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3466)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   6  (bases 1 to 3466)
  AUTHORS   Kambach,C., Walke,S., Young,R., Avis,J.M., de la Fortelle,E.,
            Raker,V.A., Luhrmann,R., Li,J. and Nagai,K.
  TITLE     Crystal structures of two Sm protein complexes and their
            implications for the assembly of the spliceosomal snRNPs
  JOURNAL   Cell 96 (3), 375-387 (1999)
   PUBMED   10025403
REFERENCE   7  (bases 1 to 3466)
  AUTHORS   Fury,M.G., Zhang,W., Christodoulopoulos,I. and Zieve,G.W.
  TITLE     Multiple protein: protein interactions between the snRNP common
            core proteins
  JOURNAL   Exp Cell Res 237 (1), 63-69 (1997)
   PUBMED   9417867
REFERENCE   8  (bases 1 to 3466)
  AUTHORS   Liu,Q., Fischer,U., Wang,F. and Dreyfuss,G.
  TITLE     The spinal muscular atrophy disease gene product, SMN, and its
            associated protein SIP1 are in a complex with spliceosomal snRNP
            proteins
  JOURNAL   Cell 90 (6), 1013-1021 (1997)
   PUBMED   9323129
REFERENCE   9  (bases 1 to 3466)
  AUTHORS   Lehmeier,T., Raker,V., Hermann,H. and Luhrmann,R.
  TITLE     cDNA cloning of the Sm proteins D2 and D3 from human small nuclear
            ribonucleoproteins: evidence for a direct D1-D2 interaction
  JOURNAL   Proc Natl Acad Sci U S A 91 (25), 12317-12321 (1994)
   PUBMED   7527560
REFERENCE   10 (bases 1 to 3466)
  AUTHORS   Lehmeier,T., Foulaki,K. and Luhrmann,R.
  TITLE     Evidence for three distinct D proteins, which react differentially
            with anti-Sm autoantibodies, in the cores of the major snRNPs U1,
            U2, U4/U6 and U5
  JOURNAL   Nucleic Acids Res 18 (22), 6475-6484 (1990)
   PUBMED   1701240
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC000457.2, CN286602.1 and
            AP000356.1.
            
            On Nov 23, 2018 this sequence version replaced NM_004175.4.
            
            Summary: This gene encodes a core component of the spliceosome,
            which is a nuclear ribonucleoprotein complex that functions in
            pre-mRNA splicing. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Jul 2013].
            
            Transcript Variant: This variant (1) represents the longest
            transcript. Variants 1 and 2 encode the same protein.
            
            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 :: SRR1163655.12982.1,
                                           SRR1803615.212856.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000215829.8/ ENSP00000215829.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-393               BC000457.2         6-398
            394-774             CN286602.1         383-763
            775-3466            AP000356.1         64580-67271
FEATURES             Location/Qualifiers
     source          1..3466
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.23"
     gene            1..3466
                     /gene="SNRPD3"
                     /gene_synonym="Sm-D3; SMD3"
                     /note="small nuclear ribonucleoprotein D3 polypeptide"
                     /db_xref="GeneID:6634"
                     /db_xref="HGNC:HGNC:11160"
                     /db_xref="MIM:601062"
     exon            1..73
                     /gene="SNRPD3"
                     /gene_synonym="Sm-D3; SMD3"
                     /inference="alignment:Splign:2.1.0"
     exon            74..217
                     /gene="SNRPD3"
                     /gene_synonym="Sm-D3; SMD3"
                     /inference="alignment:Splign:2.1.0"
     CDS             92..472
                     /gene="SNRPD3"
                     /gene_synonym="Sm-D3; SMD3"
                     /note="snRNP core protein D3; small nuclear
                     ribonucleoprotein D3 polypeptide 18kDa"
                     /codon_start=1
                     /product="small nuclear ribonucleoprotein Sm D3"
                     /protein_id="NP_004166.1"
                     /db_xref="CCDS:CCDS13828.1"
                     /db_xref="GeneID:6634"
                     /db_xref="HGNC:HGNC:11160"
                     /db_xref="MIM:601062"
                     /translation="MSIGVPIKVLHEAEGHIVTCETNTGEVYRGKLIEAEDNMNCQMS
                     NITVTYRDGRVAQLEQVYIRGSKIRFLILPDMLKNAPMLKSMKNKNQGSGAGRGKAAI
                     LKAQVAARGRGRGMGRGNIFQKRR"
     exon            218..410
                     /gene="SNRPD3"
                     /gene_synonym="Sm-D3; SMD3"
                     /inference="alignment:Splign:2.1.0"
     exon            411..3466
                     /gene="SNRPD3"
                     /gene_synonym="Sm-D3; SMD3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      605..610
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNRPD3"
                     /gene_synonym="Sm-D3; SMD3"
                     /note="hexamer: AATAAA"
     polyA_site      629
                     /gene="SNRPD3"
                     /gene_synonym="Sm-D3; SMD3"
                     /note="major polyA site"
     regulatory      3448..3453
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNRPD3"
                     /gene_synonym="Sm-D3; SMD3"
                     /note="hexamer: ATTAAA"
     polyA_site      3466
                     /gene="SNRPD3"
                     /gene_synonym="Sm-D3; SMD3"
ORIGIN      
        1 attcgcttga ctcacgcctt cgccgtagca tctttcgcag cggaccgaag agaagaaaag
       61 taggccagag ccgaactctc ttcctgccaa gatgtctatt ggtgtgccga ttaaagtact
      121 gcatgaggcc gagggccaca ttgtgacatg tgagacgaac accggtgagg tatatcgggg
      181 gaagctcatt gaagcagagg acaacatgaa ctgccagatg tccaacatca cagtcacata
      241 cagagatggc cgagtggcac agctggagca ggtatacatc cgtggcagca aaatccgctt
      301 tctgattttg cctgacatgc tgaagaacgc acccatgtta aagagcatga aaaataaaaa
      361 ccaaggctca ggggctggcc gaggaaaagc tgctattctc aaggcccaag tggccgcaag
      421 aggaagagga cgtggaatgg gacgtggaaa catctttcaa aagcgaagat aattttctaa
      481 gttgaacaga actttgtcct tttttctttc aggttatctg agttcattgg agtgggtgct
      541 tgtgcatata tgctaggtat cttttgccat ctttctcttt agatcagggg aaatgtttaa
      601 gctaaataaa tctggggggt tttttgttct gttttgtttt gttttctttg agaaaataag
      661 gactttgtgt tcatttgaag tttgctttgg ctaaattttg acaccctggg ggatgtcctg
      721 ggagaatgcc agtactttga aatagcacag ctattgatga gattttaagc tgctgttcct
      781 ggccagttgc aggttaagcc ccagaaaagt tcaccttgga gaagctccga gaacacacag
      841 attgtgtctc attcatcttc agacacaggc acatagtgtg gcactttgtt cagttaacat
      901 ttgtggagct gtcatcagct cagctttaac aacacaggtg actctttccc ttgataaagt
      961 cataggtaat tcaggggctg ggtgcggcgg ctcacgcatg taatcccagc actttgggag
     1021 gccaaggcgg gcggatcacg aggtcaggag ttcgagacca gcctggccaa tatggtgaaa
     1081 cctcgtgtgt actaaaaata aaaaaattag ccgggtgcgg tggcatgtac ctgtagtccc
     1141 agctactcgg gaggctgagg cagaagattc gcttgaaccc aggaggtgga cattgcagtg
     1201 agcagagatc atgccactgt actccagctt gggtgacaga gcgagactgc acctcaaaaa
     1261 aaaaaaagta attcagggga tcctagtggc cagcttcctt ggctcgtata ctggctacaa
     1321 caagtagttt tgtggtgatt tgtggaaaca gattcttggg agcatatcag agcatctcag
     1381 cattgattgg cacatccata gttgttaatg taggaagggt gaccagcagc tcagcacagt
     1441 ggcttgcttc cagcactctg ggaggctgag gtagaggatt gtttgagagg agttcaaaac
     1501 cagcccgcga gacatagtga gaccctgtct ctacaaaaaa ttctaaaaat taacttggca
     1561 tggtggtgca cacctgtagt cctcgctact agggaggctg aggtgggagg atcacttgag
     1621 cctgggagta tgaggctgca gtgagctatg accttgccac tgtactccag cctgggcaaa
     1681 agagcaagac tttgtcttta aagaaaaata agtagtagta aagagtataa gatacacagg
     1741 gtgaataatt gtgacaaaaa cacagaaact ggaaaagcag cctgaaaaaa tcaaatcacc
     1801 aaaaagaggt cttgccaggt attcattatg gtatgagcta cagcataagc catcaagagg
     1861 aaaactgatc aattattggc ttttagaata ttgctcattg aacagattat tcaagtaatg
     1921 aaagaggagg ggaaaaaaat ccagcacatt agttaacctg gcatcaatta atgaggttct
     1981 aataagcttt gtcttatgat actacctgga ggttacagag ctggtattct gaggaataag
     2041 catcagtgag ttggtcagat acaatagacg tttaaaatag ggcttcaggc caaacatggt
     2101 gccccacgcc tataatgcca gcactttggg aggtcgaggc gggaggatca cttgaaccta
     2161 ggagtttgag actagcctgg gctgttaagc tttgttaacc aagaccgcat ctctacaaaa
     2221 aattgaaaag tagctgggca cagctgatgc ctgcagtccc agctatcctg gaggttgagg
     2281 caggacgacc acatgagccc aggagattaa ggctgcagtg agctataatt gcaccactgc
     2341 actccagcct ggatgacagt gagaccctgt ctcttaaata aaaaacaaat gaaagcagtg
     2401 gttttcaaca tcaactaagg atcttattag aaatgaagac tgcaagccgc acacctggag
     2461 tggggcccag gaatctgcat tttaaacaat tccctggtcc ccagataagt aattcttaag
     2521 tattctatct taagtagacc taaagccgta ttttgaccct gtactagtat gttattttag
     2581 tataatcatt actgaattca tcatactttt acagtaaaca gtacttactt tgaataataa
     2641 cacattacac ttaatagtag tgaactgcat cctcgatatc aaaagcgact tttgatgtag
     2701 ttcactctgg acccgtacag gaacaccagc cttgcagatt ctccacgcaa tggaaactgg
     2761 ctataaccct acctagatct gaaaagtgaa gggggatcaa cctaaaatat gtagctttgt
     2821 aaacagtttt atatcctgca tcttaggggg gaaaatcagt tgacgcagat tgaaaacaag
     2881 ttgttccata aggtttatta tgaaaaacag tagccctcct accctgcctt taccccactt
     2941 tccttgcctc acagtagtct gtccaactct tggctgattt gtttgtattt acctccatgt
     3001 ctcaatatga acatgttttc atgactattc cttgatggtt ttttgtttgc ttgttttaag
     3061 acggtctcac tcttccccag gcgggagtgc aatggcacaa tcatggctca ctgcagcctc
     3121 aaccttctcg ggctcaggtg attctcccac ctcagcctcc tgagtagcta gaaatactgg
     3181 tgcacaccac catgcctagc taatttttgt attttttgta gagacagggt tttgccatgt
     3241 tgcccaagct ggtcttgaac tccggggctc aagtgatctg cccgcctcgg cctgctggga
     3301 ttataggtgt gagccactgc acccggccac cattatcttt tgaatcctct cttcctcctg
     3361 cccaccatga atttacttcc tctcacccat ctccctgata ttgtaattct ggttagatca
     3421 tattcagtgt caaattatta agatgtgatt aaacttttta aaaata
//
