LOCUS       NM_006938               4858 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens small nuclear ribonucleoprotein D1 polypeptide
            (SNRPD1), transcript variant 1, mRNA.
ACCESSION   NM_006938
VERSION     NM_006938.4
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 4858)
  AUTHORS   Polverini,E., Squeri,P. and Gherardi,V.
  TITLE     Effect of E134K pathogenic mutation of SMN protein on SMN-SmD1
            interaction, with implication in spinal muscular atrophy: A
            molecular dynamics study
  JOURNAL   Int J Biol Macromol 275 (Pt 2), 133663 (2024)
   PUBMED   38969036
  REMARK    GeneRIF: Effect of E134K pathogenic mutation of SMN protein on
            SMN-SmD1 interaction, with implication in spinal muscular atrophy:
            A molecular dynamics study.
REFERENCE   2  (bases 1 to 4858)
  AUTHORS   Wang,H., Chen,M., Yang,C., Hu,H., Jiang,Y., Yang,F. and Lv,L.
  TITLE     SNRPD1 inhibition suppresses the proliferation of hepatocellular
            carcinoma and promotes autophagy through the PI3K/AKT/mTOR/4EBP1
            pathway
  JOURNAL   Arch Biochem Biophys 743, 109661 (2023)
   PUBMED   37268273
  REMARK    GeneRIF: SNRPD1 inhibition suppresses the proliferation of
            hepatocellular carcinoma and promotes autophagy through the
            PI3K/AKT/mTOR/4EBP1 pathway.
REFERENCE   3  (bases 1 to 4858)
  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   4  (bases 1 to 4858)
  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   5  (bases 1 to 4858)
  AUTHORS   Campagne,S., de Vries,T., Malard,F., Afanasyev,P., Dorn,G.,
            Dedic,E., Kohlbrecher,J., Boehringer,D., Clery,A. and Allain,F.H.
  TITLE     An in vitro reconstituted U1 snRNP allows the study of the
            disordered regions of the particle and the interactions with
            proteins and ligands
  JOURNAL   Nucleic Acids Res 49 (11), e63 (2021)
   PUBMED   33677607
REFERENCE   6  (bases 1 to 4858)
  AUTHORS   Sun,D., Ou,Y.C. and Hoch,S.O.
  TITLE     Analysis of genes for human snRNP Sm-D1 protein and identification
            of the promoter sequence which shows segmental homology to the
            promoters of Sm-E and U1 snRNA genes
  JOURNAL   Gene 189 (2), 245-254 (1997)
   PUBMED   9168134
REFERENCE   7  (bases 1 to 4858)
  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   8  (bases 1 to 4858)
  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
REFERENCE   9  (bases 1 to 4858)
  AUTHORS   Renz,M., Heim,C., Braunling,O., Czichos,A., Wieland,C. and
            Seelig,H.P.
  TITLE     Expression of the major human ribonucleoprotein (RNP) autoantigens
            in Escherichia coli and their use in an EIA for screening sera from
            patients with autoimmune diseases
  JOURNAL   Clin Chem 35 (9), 1861-1863 (1989)
   PUBMED   2528429
REFERENCE   10 (bases 1 to 4858)
  AUTHORS   Rokeach,L.A., Haselby,J.A. and Hoch,S.O.
  TITLE     Molecular cloning of a cDNA encoding the human Sm-D autoantigen
  JOURNAL   Proc Natl Acad Sci U S A 85 (13), 4832-4836 (1988)
   PUBMED   3260384
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from J03798.1 and AC106037.9.
            
            On Nov 23, 2018 this sequence version replaced NM_006938.3.
            
            Summary: This gene encodes a small nuclear ribonucleoprotein that
            belongs to the SNRNP core protein family. The protein may act as a
            charged protein scaffold to promote SNRNP assembly or strengthen
            SNRNP-SNRNP interactions through nonspecific electrostatic contacts
            with RNA. Two transcript variants encoding different isoforms have
            been found for this gene. [provided by RefSeq, May 2014].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and 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 :: SRR1660807.234484.1,
                                           SRR1803614.129970.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000300413.10/ ENSP00000300413.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1129              J03798.1           35-1163
            1130-1135           AC106037.9         85747-85752         c
            1136-1585           J03798.1           1170-1619
            1586-4858           AC106037.9         82024-85296         c
FEATURES             Location/Qualifiers
     source          1..4858
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q11.2"
     gene            1..4858
                     /gene="SNRPD1"
                     /gene_synonym="HsT2456; Sm-D1; SMD1; SNRPD"
                     /note="small nuclear ribonucleoprotein D1 polypeptide"
                     /db_xref="GeneID:6632"
                     /db_xref="HGNC:HGNC:11158"
                     /db_xref="MIM:601063"
     exon            1..130
                     /gene="SNRPD1"
                     /gene_synonym="HsT2456; Sm-D1; SMD1; SNRPD"
                     /inference="alignment:Splign:2.1.0"
     CDS             117..476
                     /gene="SNRPD1"
                     /gene_synonym="HsT2456; Sm-D1; SMD1; SNRPD"
                     /note="isoform 1 is encoded by transcript variant 1; snRNP
                     core protein D1; Sm-D autoantigen; small nuclear
                     ribonucleoprotein Sm D1; small nuclear ribonucleoprotein
                     D1 polypeptide 16kDa pseudogene"
                     /codon_start=1
                     /product="small nuclear ribonucleoprotein Sm D1 isoform 1"
                     /protein_id="NP_008869.1"
                     /db_xref="CCDS:CCDS32801.1"
                     /db_xref="GeneID:6632"
                     /db_xref="HGNC:HGNC:11158"
                     /db_xref="MIM:601063"
                     /translation="MKLVRFLMKLSHETVTIELKNGTQVHGTITGVDVSMNTHLKAVK
                     MTLKNREPVQLETLSIRGNNIRYFILPDSLPLDTLLVDVEPKVKSKKREAVAGRGRGR
                     GRGRGRGRGRGRGGPRR"
     exon            131..207
                     /gene="SNRPD1"
                     /gene_synonym="HsT2456; Sm-D1; SMD1; SNRPD"
                     /inference="alignment:Splign:2.1.0"
     exon            208..399
                     /gene="SNRPD1"
                     /gene_synonym="HsT2456; Sm-D1; SMD1; SNRPD"
                     /inference="alignment:Splign:2.1.0"
     exon            400..4858
                     /gene="SNRPD1"
                     /gene_synonym="HsT2456; Sm-D1; SMD1; SNRPD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      553..558
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNRPD1"
                     /gene_synonym="HsT2456; Sm-D1; SMD1; SNRPD"
                     /note="hexamer: AATAAA"
     polyA_site      573
                     /gene="SNRPD1"
                     /gene_synonym="HsT2456; Sm-D1; SMD1; SNRPD"
                     /note="major polyA site"
     regulatory      740..745
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNRPD1"
                     /gene_synonym="HsT2456; Sm-D1; SMD1; SNRPD"
                     /note="hexamer: AATAAA"
     polyA_site      763
                     /gene="SNRPD1"
                     /gene_synonym="HsT2456; Sm-D1; SMD1; SNRPD"
     regulatory      1548..1553
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNRPD1"
                     /gene_synonym="HsT2456; Sm-D1; SMD1; SNRPD"
                     /note="hexamer: AATAAA"
     polyA_site      1585
                     /gene="SNRPD1"
                     /gene_synonym="HsT2456; Sm-D1; SMD1; SNRPD"
     regulatory      4840..4845
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNRPD1"
                     /gene_synonym="HsT2456; Sm-D1; SMD1; SNRPD"
                     /note="hexamer: AATAAA"
     polyA_site      4858
                     /gene="SNRPD1"
                     /gene_synonym="HsT2456; Sm-D1; SMD1; SNRPD"
ORIGIN      
        1 cttgacgtcc ggagcccctg gagtaggcgc ttccggccat tcatactgca gtcggtcagt
       61 gttcggttga aggattctgt gtgctgtcgg acccagaggg tgacggcgcc gctaggatga
      121 agctcgtgag atttttgatg aaattgagtc atgaaactgt aaccattgaa ttgaagaacg
      181 gaacacaggt ccatggaaca atcacaggtg tggatgtcag catgaataca catcttaaag
      241 ctgtgaaaat gaccctgaag aacagagaac ctgtacagct ggaaacgctg agtattcgag
      301 gaaataacat tcggtatttt attctaccag acagtttacc tctggataca ctacttgtgg
      361 atgttgaacc taaggtgaaa tctaagaaaa gggaagctgt tgcaggaaga ggcagaggaa
      421 gaggaagagg aagaggacgt ggccgtggca gaggaagagg gggtcctagg cgataatgtc
      481 tctcaagatt tcaaagtcat atgagatttg ggatattttt tgtacaggtt gtgtttgttt
      541 atgtcagttt ttaataaaca taaatgtggg acagagctgt ctatttagta tatcaaagtt
      601 ttagtagttt cctccacatt cacgaaatta ccacagtgag agctaagcat ttctactggg
      661 cagtttcatt tttagttgat caggttttaa gtttttgaac taaaattttt ctttttcttt
      721 ttatgatgaa taaggttaaa ataaaagcct tagacaaatt aaatttggca gagtttaatt
      781 gagcaaagga caattcacaa atcaggtagc ccctgaacca taataggctc agaggcttca
      841 gcccagctgc atagttgaag atttatggac agaaggaaag tgatgtatgg aaaatggaag
      901 tgagatacag caacagccgg attagttaca gttcagcgtt tgccttattt gaatatggtt
      961 tgaacagttc gctgtctttg gttggctgaa acttagtgat tgccacaaga gtagggtacc
     1021 gtctgtttac acgtccagtt aggctacagt tctatgtact gagaaacctt taagctgaac
     1081 ttgagatatg taaagagact ttaggctaaa cttaacaata tatataggat atataccctt
     1141 ctacttcaca tgcactgaat atgcatttta ttgctttact cttcattctg tggcacctac
     1201 ccacagggga agtaagaagt ttgttttggt atttcggaaa ctaaagtcct tatgggatgg
     1261 ggtctagaat tgattctcct ttcctgagtt ttactccacg gagtcttagg tacctggtaa
     1321 aaagttgtct tctaaattaa gggtcattgc tttgttgtct agctgctaat gtcttacttt
     1381 tgtttctttt gctttttaat cagttcttaa taggatatag ttttatgttt tccaagttat
     1441 aacttggagt taatggtcac tagattatca gttatgagca gtgttaaaat ctcctattaa
     1501 tgtgtaatgt acctgtcagt gcctccttta ttaaggggtt ctttgagaat aaaagagaaa
     1561 agacctactt tatttgacag caaaactgtt ctaattgtta ataaggactt ttaaaaattg
     1621 tttttgattt gctaagctca gaaaaaatgt ctctcagtgc atcagttctt tgtaaagctt
     1681 actacgaagt atttatatgc taaggaaaac aactgaggat gtgggtggct taaatctgta
     1741 ttttcatcat gtatgtgagt tttttttttt ttaagtaaag aaattttctg caaagatcgt
     1801 taccttaaaa aagtttagcc tgggtgtggt ggctcacgcc tgtaatccca gcactttggg
     1861 aggccgaggc aggtggatca cgaggtcagg agttgaagac cagcttggcc aagagggtga
     1921 aaccccattt ctactaaaaa tacaaaagtt agccaggtgc agtgacaggc gcctgtaatc
     1981 ccagctactc atgaggccga ggcaggagaa ttgcttgaac ccaggaggcg gaggttgcag
     2041 tgagccgaga ttgtgccact gcactccagc ctgggcgatg gagtgagact acgtctcaaa
     2101 aaaaaatcga gagagagata tatatatgta tttatatata tatgtattta tactaatata
     2161 taaatatata ctaatagata tattagtata catgtagaat gtacctgtca tatatattag
     2221 atatataaat gtatatattg gtataaataa atactagata tatatttttt taagtatctt
     2281 acctcatcaa gtaaattcaa atgctttttg atttttccac agttgataat ttttttttgt
     2341 aagtcattga agttatatag taattagcgt tttttccccc acaaattatt ggcagtggtc
     2401 acccagttgt attacaggtt ctatgatcca aaaagggatg tatgaaattc atgatgatta
     2461 agacaatttt ttctttcttt cttttgagac agagtcttgc tgtgtcaccc aggctggagt
     2521 gcagtggtgc gatcttggct cactgcaacc tctgcgtccc gggttcaaga gattattgtg
     2581 cctcagcctc cagagtagct gggattataa gcgtgcgcca ccacacccag ctaatttttt
     2641 tgtattttta gtagagacgg ggtttcacca tgttggccag acttaagaca attctttaat
     2701 agtaaatata ttaaaggtga gttggcttga caagatacaa ccaatatgta atttttctcc
     2761 acacgttttt tttttttttt tttttttttt tctggagaca gtcttgctct gttgcccagg
     2821 ctggagtaca gtggcgcgat cttggctcac tgcaagctct gcctcccggg ttcaggccat
     2881 tctcctgcct cagcctcccg agtagctggg actacaggtg cctgccacca cacccagcta
     2941 attttttgtc tttttagtag agacggggtt tcactgtgtt aggatggtct cgttctcctg
     3001 acctcatgat ctgcacgagg cctcccaatg tgctgggatt acaggcgtga gccaccgtgc
     3061 gtccccggcc tatacctttc attaattaat aagctggggg aataaataac tggatttcat
     3121 tcttttccat cttctgacct gttggtgctc ctattgcttg tatccaagta gaaggcaaaa
     3181 ggcaagagac ccctgtaatg cagcaagtgg agagatttgt tgaaggggtc aaacaaaacc
     3241 ctgcaagagt aggaaataaa cagttggctc ctgtcctcgt ggagcttata gacagaagca
     3301 gataacaaat aaaaattgga gcttagtgcc gtggtgcaca cttgtagtcc ctgctactgg
     3361 ggaggctaag gcaagaggat cgctatagcc tgggaatttg aagctgtagc gtgctatgat
     3421 tgcaagcagc ctgggtaacc tagtgagacc tggctcttaa atttaaaatt taaatgaaaa
     3481 tggccactta gcataagaga tctaaaatta cgttttgtcc tggcatggtg gctcatgcct
     3541 gtgacctcag cactttggga ggccgagatg ggcgaatcac ttgaggtcag gagttcgaga
     3601 ccagcctggg taacatggtg aaaccctgtc tactgaaaat acaaaaatta gcttggtgtg
     3661 gtggcgggtg cctgtaatct cagttactca ggaggcttag gcaggagaat cacttgaacc
     3721 ctggaggcag aggttgcagt gagctgagat cacaccactg cacttcagcc tgagtgacag
     3781 agcgagactg tttcaaaaaa aaaaaaaaaa tttgttttga gagtttttgt gtctaggatg
     3841 tttgcagtgt gaagccagtc tagtaacagt ttaaatgtaa taataaatca cagtgggtac
     3901 tagattgagt ttattccact agaggtcatt atttcatttc catgtgaaag ggctaaaatt
     3961 gggtgaagaa aaagctattt gaactgatta ccatcatttg ctataaagga agcattatag
     4021 tatgaataga aaacagacta gagtttaaca tgcttctctt gacccctctt caccaccccc
     4081 taaaaggcag atgggatctt aggactgcag cattttgtac acatctgata tttaatgaga
     4141 tgttacatat gaactttagt tttttttctt ttcttttctt ttcttttctt ttcttttttt
     4201 ttttttgaga cagagtctag ctctgtcacc caggctggag tgcagtggtg caatctcggc
     4261 tcactgcaaa ctctgcctcc cgggttcacg ccattctcct gcctcagcct cctgagtagc
     4321 tgagactaca ggtgcccacc actatgcccg gctaatgttt tgtactttta gtagagacgg
     4381 ggtttcactg tgttagccag gatggtctga atctcctgac ctcgtgattc gcccgcctcg
     4441 gcctcccaaa gtgctgggat tacaggcgtg agccaccgcg tccggccgaa cattagtttt
     4501 taaagaaatg tattatgaat atagatagaa aacccaaagt gaaggaatag aaaatgaaat
     4561 atcagtttct tttaatctat cataattatg tgagcataac ttagtatttt gaaatagatt
     4621 aatgtagtca gcaaacaatt catgtattac ctataataga tatcatacat ataacattta
     4681 ataacataca gttcttgttc ctgaagactt aacctagaaa ataactccat aacaagaaga
     4741 atctctgtca taataaacca acagcagaca ttttctaaag gcattaaaag tatatctgat
     4801 actggccttt attaatgtga aattcttgtg gatctgtgaa ataaagagga gtactttc
//
