LOCUS       NM_004814               1615 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens small nuclear ribonucleoprotein U5 subunit 40
            (SNRNP40), mRNA.
ACCESSION   NM_004814
VERSION     NM_004814.3
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 1615)
  AUTHORS   Kan,H., Liu,H., Mu,Y., Li,Y., Zhang,M., Cao,Y., Dong,Y., Li,Y.,
            Wang,K., Li,Q., Hu,A. and Zheng,Y.
  TITLE     Novel genetic variants linked to prelabor rupture of membranes
            among Chinese pregnant women
  JOURNAL   Placenta 137, 14-22 (2023)
   PUBMED   37054626
  REMARK    GeneRIF: Novel genetic variants linked to prelabor rupture of
            membranes among Chinese pregnant women.
REFERENCE   2  (bases 1 to 1615)
  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   3  (bases 1 to 1615)
  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   4  (bases 1 to 1615)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 1615)
  AUTHORS   Charenton,C., Wilkinson,M.E. and Nagai,K.
  TITLE     Mechanism of 5' splice site transfer for human spliceosome
            activation
  JOURNAL   Science 364 (6438), 362-367 (2019)
   PUBMED   30975767
REFERENCE   6  (bases 1 to 1615)
  AUTHORS   Zhou,Z., Licklider,L.J., Gygi,S.P. and Reed,R.
  TITLE     Comprehensive proteomic analysis of the human spliceosome
  JOURNAL   Nature 419 (6903), 182-185 (2002)
   PUBMED   12226669
REFERENCE   7  (bases 1 to 1615)
  AUTHORS   Jurica,M.S., Licklider,L.J., Gygi,S.R., Grigorieff,N. and
            Moore,M.J.
  TITLE     Purification and characterization of native spliceosomes suitable
            for three-dimensional structural analysis
  JOURNAL   RNA 8 (4), 426-439 (2002)
   PUBMED   11991638
REFERENCE   8  (bases 1 to 1615)
  AUTHORS   Makarov,E.M., Makarova,O.V., Achsel,T. and Luhrmann,R.
  TITLE     The human homologue of the yeast splicing factor prp6p contains
            multiple TPR elements and is stably associated with the U5 snRNP
            via protein-protein interactions
  JOURNAL   J Mol Biol 298 (4), 567-575 (2000)
   PUBMED   10788320
REFERENCE   9  (bases 1 to 1615)
  AUTHORS   Achsel,T., Ahrens,K., Brahms,H., Teigelkamp,S. and Luhrmann,R.
  TITLE     The human U5-220kD protein (hPrp8) forms a stable RNA-free complex
            with several U5-specific proteins, including an RNA unwindase, a
            homologue of ribosomal elongation factor EF-2, and a novel WD-40
            protein
  JOURNAL   Mol Cell Biol 18 (11), 6756-6766 (1998)
   PUBMED   9774689
REFERENCE   10 (bases 1 to 1615)
  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 CR736901.1, BC001494.2,
            AC114495.2 and BM150898.1.
            
            On Nov 24, 2018 this sequence version replaced NM_004814.2.
            
            Summary: This gene encodes a component of the U5 small nuclear
            ribonucleoprotein (snRNP) particle. The U5 snRNP is part of the
            spliceosome, a multiprotein complex that catalyzes the removal of
            introns from pre-messenger RNAs. [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 :: SRR3476690.246669.1,
                                           SRR5189658.116334.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000263694.9/ ENSP00000263694.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-15                CR736901.1         10-24
            16-1426             BC001494.2         1-1411
            1427-1588           AC114495.2         155801-155962       c
            1589-1615           BM150898.1         15-41               c
FEATURES             Location/Qualifiers
     source          1..1615
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p35.2"
     gene            1..1615
                     /gene="SNRNP40"
                     /gene_synonym="40K; HPRP8BP; PRP8BP; PRPF8BP; SPF38;
                     WDR57"
                     /note="small nuclear ribonucleoprotein U5 subunit 40"
                     /db_xref="GeneID:9410"
                     /db_xref="HGNC:HGNC:30857"
                     /db_xref="MIM:607797"
     exon            1..178
                     /gene="SNRNP40"
                     /gene_synonym="40K; HPRP8BP; PRP8BP; PRPF8BP; SPF38;
                     WDR57"
                     /inference="alignment:Splign:2.1.0"
     CDS             38..1111
                     /gene="SNRNP40"
                     /gene_synonym="40K; HPRP8BP; PRP8BP; PRPF8BP; SPF38;
                     WDR57"
                     /note="WD repeat domain 57 (U5 snRNP specific); 38
                     kDa-splicing factor; Prp8-binding protein; U5-40kD
                     protein; U5-40K; small nuclear ribonucleoprotein, U5 40kDa
                     subunit; U5 snRNP 40 kDa protein; WD repeat-containing
                     protein 57; U5 snRNP-specific 40 kDa protein; small
                     nuclear ribonucleoprotein 40kDa (U5)"
                     /codon_start=1
                     /product="U5 small nuclear ribonucleoprotein 40 kDa
                     protein"
                     /protein_id="NP_004805.2"
                     /db_xref="CCDS:CCDS340.1"
                     /db_xref="GeneID:9410"
                     /db_xref="HGNC:HGNC:30857"
                     /db_xref="MIM:607797"
                     /translation="MIEQQKRKGPELPLVPVKRQRHELLLGAGSGPGAGQQQATPGAL
                     LQAGPPRCSSLQAPIMLLSGHEGEVYCCKFHPNGSTLASAGFDRLILLWNVYGDCDNY
                     ATLKGHSGAVMELHYNTDGSMLFSASTDKTVAVWDSETGERVKRLKGHTSFVNSCYPA
                     RRGPQLVCTGSDDGTVKLWDIRKKAAIQTFQNTYQVLAVTFNDTSDQIISGGIDNDIK
                     VWDLRQNKLTYTMRGHADSVTGLSLSSEGSYLLSNAMDNTVRVWDVRPFAPKERCVKI
                     FQGNVHNFEKNLLRCSWSPDGSKIAAGSADRFVYVWDTTSRRILYKLPGHAGSINEVA
                     FHPDEPIIISASSDKRLYMGEIQ"
     exon            179..308
                     /gene="SNRNP40"
                     /gene_synonym="40K; HPRP8BP; PRP8BP; PRPF8BP; SPF38;
                     WDR57"
                     /inference="alignment:Splign:2.1.0"
     exon            309..402
                     /gene="SNRNP40"
                     /gene_synonym="40K; HPRP8BP; PRP8BP; PRPF8BP; SPF38;
                     WDR57"
                     /inference="alignment:Splign:2.1.0"
     exon            403..568
                     /gene="SNRNP40"
                     /gene_synonym="40K; HPRP8BP; PRP8BP; PRPF8BP; SPF38;
                     WDR57"
                     /inference="alignment:Splign:2.1.0"
     exon            569..691
                     /gene="SNRNP40"
                     /gene_synonym="40K; HPRP8BP; PRP8BP; PRPF8BP; SPF38;
                     WDR57"
                     /inference="alignment:Splign:2.1.0"
     exon            692..812
                     /gene="SNRNP40"
                     /gene_synonym="40K; HPRP8BP; PRP8BP; PRPF8BP; SPF38;
                     WDR57"
                     /inference="alignment:Splign:2.1.0"
     exon            813..895
                     /gene="SNRNP40"
                     /gene_synonym="40K; HPRP8BP; PRP8BP; PRPF8BP; SPF38;
                     WDR57"
                     /inference="alignment:Splign:2.1.0"
     exon            896..957
                     /gene="SNRNP40"
                     /gene_synonym="40K; HPRP8BP; PRP8BP; PRPF8BP; SPF38;
                     WDR57"
                     /inference="alignment:Splign:2.1.0"
     exon            958..1061
                     /gene="SNRNP40"
                     /gene_synonym="40K; HPRP8BP; PRP8BP; PRPF8BP; SPF38;
                     WDR57"
                     /inference="alignment:Splign:2.1.0"
     exon            1062..1615
                     /gene="SNRNP40"
                     /gene_synonym="40K; HPRP8BP; PRP8BP; PRPF8BP; SPF38;
                     WDR57"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1479..1484
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNRNP40"
                     /gene_synonym="40K; HPRP8BP; PRP8BP; PRPF8BP; SPF38;
                     WDR57"
                     /note="hexamer: ATTAAA"
     regulatory      1490..1495
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNRNP40"
                     /gene_synonym="40K; HPRP8BP; PRP8BP; PRPF8BP; SPF38;
                     WDR57"
                     /note="hexamer: AATAGA"
     polyA_site      1505
                     /gene="SNRNP40"
                     /gene_synonym="40K; HPRP8BP; PRP8BP; PRPF8BP; SPF38;
                     WDR57"
                     /note="major polyA site"
     polyA_site      1510
                     /gene="SNRNP40"
                     /gene_synonym="40K; HPRP8BP; PRP8BP; PRPF8BP; SPF38;
                     WDR57"
                     /note="major polyA site"
     regulatory      1592..1597
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNRNP40"
                     /gene_synonym="40K; HPRP8BP; PRP8BP; PRPF8BP; SPF38;
                     WDR57"
                     /note="hexamer: AATACA"
     polyA_site      1615
                     /gene="SNRNP40"
                     /gene_synonym="40K; HPRP8BP; PRP8BP; PRPF8BP; SPF38;
                     WDR57"
ORIGIN      
        1 gcggtcagtg gcggcgctga agagaccggt tgccgccatg atagaacagc agaagcgtaa
       61 gggcccagag ttgccgctgg ttccagtcaa gcggcagcgg catgagttgc tgttgggagc
      121 ggggtctggc ccaggagccg ggcagcagca ggcgacgccg ggagccttgc tgcaagcggg
      181 acctccaaga tgttcctccc ttcaagcccc aatcatgctg ctctctggac atgaagggga
      241 agtctactgc tgcaagttcc accccaacgg atccacctta gcatctgcag gatttgaccg
      301 actgatatta ctgtggaatg tctatggtga ctgtgataac tatgccacac tgaagggaca
      361 cagtggagca gtgatggaat tgcattacaa cacagatggc agtatgcttt tctcagcatc
      421 cacagataaa accgtggctg tgtgggatag tgaaacaggt gagagggtta aaaggctaaa
      481 gggacatact tcctttgtga attcctgtta tccagccagg agaggccctc agcttgtctg
      541 cactggcagt gacgatggca cagttaagct ttgggacatc cggaagaaag cagccatcca
      601 gacatttcag aacacgtacc aggtgttagc tgtgaccttc aatgacacaa gtgatcagat
      661 tatttctggt ggaatagaca atgatatcaa ggtctgggac ctgcgccaga acaagctaac
      721 ctacaccatg agaggccatg cagattcagt gactggcctg agtttaagtt ctgaaggctc
      781 ttatcttttg tccaatgcaa tggacaatac agttcgtgtc tgggatgtcc ggccatttgc
      841 ccccaaagag agatgtgtaa agatatttca aggaaatgtg cacaactttg aaaagaacct
      901 tctgagatgt tcttggtcac ctgatggaag caaaatagca gctggctcag ccgacaggtt
      961 tgtttatgtg tgggatacca caagcaggag aatattgtat aagctgcccg gccatgctgg
     1021 ctccatcaat gaagtggctt tccaccctga tgagcccatc attatctcag catcgagtga
     1081 caagagactg tatatgggag agattcagtg aagatatgga ctggaagact ccaaggccgc
     1141 ttgtctttga gacctcagac tgcataagtg atgccaaatg ttggatgtcc aggctagcac
     1201 cctcccttca gatgaccatt gctagcaaga aacaggaggc ggtggccata ttccaaaaac
     1261 cacttctgtc ccatttcacc aggatgacta aggcaagctc cctgtggcct ctaaaaacca
     1321 cctgccagat ttcagggact gttttttttt ttctttttct tttttcctgt tttctaatgc
     1381 aggcccaatg tgacaaattt gttggttggg attttttttt tttttttgta actggcttgt
     1441 atgatatttt ctttctgtat ttctctatat cattttgtat taaaagccaa atagatgcct
     1501 ttttacaaga gccatgtgga ttggatttat tgctgtcttt tttttgaggc ttgattgcta
     1561 taaatcagaa tagagcatga tgtggccaca gaatacaatt catttaaact tccaa
//
