LOCUS       NM_014949               2961 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens KH domain containing 4, pre-mRNA splicing factor
            (KHDC4), mRNA.
ACCESSION   NM_014949 XM_375812
VERSION     NM_014949.4
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 2961)
  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   2  (bases 1 to 2961)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2961)
  AUTHORS   Yang,X., Coulombe-Huntington,J., Kang,S., Sheynkman,G.M., Hao,T.,
            Richardson,A., Sun,S., Yang,F., Shen,Y.A., Murray,R.R., Spirohn,K.,
            Begg,B.E., Duran-Frigola,M., MacWilliams,A., Pevzner,S.J.,
            Zhong,Q., Wanamaker,S.A., Tam,S., Ghamsari,L., Sahni,N., Yi,S.,
            Rodriguez,M.D., Balcha,D., Tan,G., Costanzo,M., Andrews,B.,
            Boone,C., Zhou,X.J., Salehi-Ashtiani,K., Charloteaux,B., Chen,A.A.,
            Calderwood,M.A., Aloy,P., Roth,F.P., Hill,D.E., Iakoucheva,L.M.,
            Xia,Y. and Vidal,M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   4  (bases 1 to 2961)
  AUTHORS   Crisci,A., Raleff,F., Bagdiul,I., Raabe,M., Urlaub,H., Rain,J.C.
            and Kramer,A.
  TITLE     Mammalian splicing factor SF1 interacts with SURP domains of U2
            snRNP-associated proteins
  JOURNAL   Nucleic Acids Res 43 (21), 10456-10473 (2015)
   PUBMED   26420826
REFERENCE   5  (bases 1 to 2961)
  AUTHORS   Mei,Y.P., Liao,J.P., Shen,J., Yu,L., Liu,B.L., Liu,L., Li,R.Y.,
            Ji,L., Dorsey,S.G., Jiang,Z.R., Katz,R.L., Wang,J.Y. and Jiang,F.
  TITLE     Small nucleolar RNA 42 acts as an oncogene in lung tumorigenesis
  JOURNAL   Oncogene 31 (22), 2794-2804 (2012)
   PUBMED   21986946
REFERENCE   6  (bases 1 to 2961)
  AUTHORS   Loscher,M., Schosserer,M., Dausse,E., Lee,K., Ajuh,P.,
            Grillari-Voglauer,R., Lamond,A.I., Toulme,J.J. and Grillari,J.
  TITLE     Inhibition of pre-mRNA splicing by a synthetic
            Blom7alpha-interacting small RNA
  JOURNAL   PLoS One 7 (10), e47497 (2012)
   PUBMED   23144703
  REMARK    GeneRIF: Results suggest that the RNA binding activity of
            Blom7alpha might be required for pre-mRNA splicing catalysis.
REFERENCE   7  (bases 1 to 2961)
  AUTHORS   Grillari,J., Loscher,M., Denegri,M., Lee,K., Fortschegger,K.,
            Eisenhaber,F., Ajuh,P., Lamond,A.I., Katinger,H. and
            Grillari-Voglauer,R.
  TITLE     Blom7alpha is a novel heterogeneous nuclear ribonucleoprotein K
            homology domain protein involved in pre-mRNA splicing that
            interacts with SNEVPrp19-Pso4
  JOURNAL   J Biol Chem 284 (42), 29193-29204 (2009)
   PUBMED   19641227
  REMARK    GeneRIF: Blom7alpha is a novel heterogeneous nuclear
            ribonucleoprotein K homology domain protein involved in pre-mRNA
            splicing and interacting with the CDC5L-SNEV(Prp19-Pso4) complex.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BI560023.1 and BC062637.1.
            
            On Nov 22, 2018 this sequence version replaced NM_014949.3.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC062637.1, SRR1163657.390659.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000368321.8/ ENSP00000357304.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-28                BI560023.1         40-67
            29-2961             BC062637.1         13-2945
FEATURES             Location/Qualifiers
     source          1..2961
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q22"
     gene            1..2961
                     /gene="KHDC4"
                     /gene_synonym="BLOM7; KIAA0907; SNORA80EHG"
                     /note="KH domain containing 4, pre-mRNA splicing factor"
                     /db_xref="GeneID:22889"
                     /db_xref="HGNC:HGNC:29145"
                     /db_xref="MIM:619370"
     exon            1..78
                     /gene="KHDC4"
                     /gene_synonym="BLOM7; KIAA0907; SNORA80EHG"
                     /inference="alignment:Splign:2.1.0"
     CDS             41..1885
                     /gene="KHDC4"
                     /gene_synonym="BLOM7; KIAA0907; SNORA80EHG"
                     /note="brings lots of money 7; protein BLOM7; pre-mRNA
                     splicing factor protein KHDC4"
                     /codon_start=1
                     /product="KH homology domain-containing protein 4"
                     /protein_id="NP_055764.2"
                     /db_xref="CCDS:CCDS30885.1"
                     /db_xref="GeneID:22889"
                     /db_xref="HGNC:HGNC:29145"
                     /db_xref="MIM:619370"
                     /translation="MSAGSATHPGAGGRRSKWDQPAPAPLLFLPPAAPGGEVTSSGGS
                     PGGTTAAPSGALDAAAAVAAKINAMLMAKGKLKPTQNASEKLQAPGKGLTSNKSKDDL
                     VVAEVEINDVPLTCRNLLTRGQTQDEISRLSGAAVSTRGRFMTTEEKAKVGPGDRPLY
                     LHVQGQTRELVDRAVNRIKEIITNGVVKAATGTSPTFNGATVTVYHQPAPIAQLSPAV
                     SQKPPFQSGMHYVQDKLFVGLEHAVPTFNVKEKVEGPGCSYLQHIQIETGAKVFLRGK
                     GSGCIEPASGREAFEPMYIYISHPKPEGLAAAKKLCENLLQTVHAEYSRFVNQINTAV
                     PLPGYTQPSAISSVPPQPPYYPSNGYQSGYPVVPPPQQPVQPPYGVPSIVPPAVSLAP
                     GVLPALPTGVPPVPTQYPITQVQPPASTGQSPMGGPFIPAAPVKTALPAGPQPQPQPQ
                     PPLPSQPQAQKRRFTEELPDERESGLLGYQHGPIHMTNLGTGFSSQNEIEGAGSKPAS
                     SSGKERERDRQLMPPPAFPVTGIKTESDERNGSGTLTGSHDYPAKKMKTTEKGFGLVA
                     YAADSSDEEEEHGGHKNASSFPQGWSLGYQYPSSQPRAKQQMPFWMAP"
     exon            79..295
                     /gene="KHDC4"
                     /gene_synonym="BLOM7; KIAA0907; SNORA80EHG"
                     /inference="alignment:Splign:2.1.0"
     exon            296..424
                     /gene="KHDC4"
                     /gene_synonym="BLOM7; KIAA0907; SNORA80EHG"
                     /inference="alignment:Splign:2.1.0"
     exon            425..504
                     /gene="KHDC4"
                     /gene_synonym="BLOM7; KIAA0907; SNORA80EHG"
                     /inference="alignment:Splign:2.1.0"
     exon            505..557
                     /gene="KHDC4"
                     /gene_synonym="BLOM7; KIAA0907; SNORA80EHG"
                     /inference="alignment:Splign:2.1.0"
     exon            558..721
                     /gene="KHDC4"
                     /gene_synonym="BLOM7; KIAA0907; SNORA80EHG"
                     /inference="alignment:Splign:2.1.0"
     exon            722..933
                     /gene="KHDC4"
                     /gene_synonym="BLOM7; KIAA0907; SNORA80EHG"
                     /inference="alignment:Splign:2.1.0"
     exon            934..994
                     /gene="KHDC4"
                     /gene_synonym="BLOM7; KIAA0907; SNORA80EHG"
                     /inference="alignment:Splign:2.1.0"
     exon            995..1052
                     /gene="KHDC4"
                     /gene_synonym="BLOM7; KIAA0907; SNORA80EHG"
                     /inference="alignment:Splign:2.1.0"
     exon            1053..1306
                     /gene="KHDC4"
                     /gene_synonym="BLOM7; KIAA0907; SNORA80EHG"
                     /inference="alignment:Splign:2.1.0"
     exon            1307..1480
                     /gene="KHDC4"
                     /gene_synonym="BLOM7; KIAA0907; SNORA80EHG"
                     /inference="alignment:Splign:2.1.0"
     exon            1481..1593
                     /gene="KHDC4"
                     /gene_synonym="BLOM7; KIAA0907; SNORA80EHG"
                     /inference="alignment:Splign:2.1.0"
     exon            1594..1685
                     /gene="KHDC4"
                     /gene_synonym="BLOM7; KIAA0907; SNORA80EHG"
                     /inference="alignment:Splign:2.1.0"
     exon            1686..2961
                     /gene="KHDC4"
                     /gene_synonym="BLOM7; KIAA0907; SNORA80EHG"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2943..2948
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KHDC4"
                     /gene_synonym="BLOM7; KIAA0907; SNORA80EHG"
                     /note="hexamer: AATAAA"
     polyA_site      2961
                     /gene="KHDC4"
                     /gene_synonym="BLOM7; KIAA0907; SNORA80EHG"
                     /note="major polyA site"
ORIGIN      
        1 agtcggatag ttggcgggtg gttgagtaga agcggtcgcc atgtccgcgg ggagcgcgac
       61 acatcctgga gctggcgggc gccgcagcaa atgggaccaa ccagctccag ccccacttct
      121 cttcctcccg ccagcggccc caggtgggga ggtcaccagc agtgggggaa gtcctggggg
      181 caccacagct gctccttcag gagccttgga tgctgctgct gctgtggctg ccaagattaa
      241 tgccatgctc atggcaaaag ggaagctgaa accaactcag aatgcttctg agaagcttca
      301 ggctcctggc aaaggcctaa ctagcaataa aagcaaggat gacctggtgg tagctgaagt
      361 agaaattaat gatgtgcctc tcacatgtag gaacttgctg actcgaggac agactcaaga
      421 cgagatcagc cgacttagtg gggctgcagt atcaactcga gggaggttca tgacaactga
      481 ggaaaaagcc aaagtgggac caggggatcg tccattatat cttcatgttc agggccagac
      541 acgggaatta gtggacagag ctgtaaaccg gatcaaagaa attatcacca atggagtggt
      601 aaaagctgcc acaggaacaa gtccaacttt taatggtgca acagtaactg tctatcacca
      661 gccagcaccc atcgctcagt tgtctccagc tgttagccag aagcctccct tccagtcagg
      721 gatgcattat gttcaagata aattatttgt gggtctagaa catgctgtac ccacttttaa
      781 tgtcaaggag aaggtggaag gtccaggctg ctcctatttg cagcacattc agattgaaac
      841 aggtgccaaa gtcttcctgc ggggcaaagg ttcaggctgc attgagccag catctggccg
      901 agaagctttt gaacctatgt atatttacat cagtcacccc aaaccagaag gcctggctgc
      961 tgccaagaag ctttgtgaga atcttttgca aacagttcat gctgaatact ctagatttgt
     1021 gaatcagatt aatactgctg tacctttacc aggctataca caaccctctg ctataagtag
     1081 tgtccctcct caaccaccat attatccatc caatggctat cagtctggtt accctgttgt
     1141 tccccctcct cagcagccag ttcaacctcc ctacggagta ccaagcatag tgccaccagc
     1201 tgtttcatta gcacctggag tcttgccggc attacctact ggagtcccac ctgtgccaac
     1261 acaatacccg ataacacaag tgcagcctcc agctagcact ggacagagtc cgatgggtgg
     1321 tccttttatt cctgctgctc ctgtcaaaac tgccttgcct gctggccccc agccccagcc
     1381 ccagccccag cccccactcc caagtcagcc ccaggcacag aagagacgat tcacagagga
     1441 gctaccagat gaacgggaat ctggactgct tggataccag catggaccca ttcatatgac
     1501 taatttaggt acaggcttct ccagtcagaa tgagattgaa ggtgcaggat cgaagccagc
     1561 aagttcctca ggcaaagaga gagagaggga caggcagttg atgcctccac cagcctttcc
     1621 agtgactgga ataaaaacag agtccgatga aaggaatggg tctgggacct taacagggag
     1681 ccatgattat ccagccaaga agatgaaaac tacagagaag ggatttggct tggtggctta
     1741 tgctgcagat tcatctgatg aagaggagga acatggaggt cataaaaatg caagtagttt
     1801 tccacagggc tggagtttgg gataccaata tccttcatca caaccacgag ctaaacaaca
     1861 gatgccattc tggatggctc cctaggaaac agtggaacag agttttgacc ctcagtgact
     1921 cttcttagca ataatgcatg catttgattt aacaagactc tggggcctgt gctgggaacc
     1981 atctggacct ttgcagaagt tagagattca gtgcccccct ttcttaaagg ggttccttaa
     2041 caaccacaaa aatccttatt tctgcagtgg catagaatct gttaaaattt aattagaatc
     2101 acaaatttat ctcagaagct ttttaacagt tggtgaaatg tgcttgtcca acaaagcatc
     2161 ctaacagggt cgttcccata cacatttgac ctggtcagcc ttttccaggt gaatagcccc
     2221 agttctgaca taaagaaagt tttatttgta ttttactact gtttggtcaa ttttgatata
     2281 taactggtta caaacagagc cttactattt attagtgggg aaatgatttt aagaccgtcc
     2341 ttttcagtat ttaattctga cagatctgca tccctgtttt gttttggatt atttctgttt
     2401 tggaaaatgc tgtctcattt aaaactgttg gatatagctg gatcctggat aggaaaatga
     2461 aattattttt tcattgtgtt ttttaattgg ggtgatccaa agctggcacc ttcaggcaca
     2521 ttggtctcat agccattact gtttttattg cccttctaag atcctgtctt cagctgggtc
     2581 agagaaaact tcttgactaa aactggtcag aactcatcac agaaatgaaa tacagtggtc
     2641 tctctctccc agaactggtt gcagctaaaa cagagagatc tgactgctgg ctataggatt
     2701 ttggacttaa tgactgaaat tgcaaattgt cctttttctt ggcattacag attttgccaa
     2761 aataactttt tgtatcaaat attgatgtgt gaaagtgaag gagctagtct gctgaaccag
     2821 gaatagtttg agatattgaa ctgtcatttt tgcacatttg aatactttgc aggctggctt
     2881 tgtataaact tatcctctgg tttcctatat gttgtaaata tttagaccat aatttcatta
     2941 taaataaatc tataaatatt c
//
