LOCUS       NM_014276               2502 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens recombination signal binding protein for
            immunoglobulin kappa J region like (RBPJL), transcript variant 1,
            mRNA.
ACCESSION   NM_014276
VERSION     NM_014276.4
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 2502)
  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   2  (bases 1 to 2502)
  AUTHORS   Nair,A.K., Sutherland,J.R., Traurig,M., Piaggi,P., Chen,P.,
            Kobes,S., Hanson,R.L., Bogardus,C. and Baier,L.J.
  TITLE     Functional and association analysis of an Amerindian-derived
            population-specific p.(Thr280Met) variant in RBPJL, a component of
            the PTF1 complex
  JOURNAL   Eur J Hum Genet 26 (2), 238-246 (2018)
   PUBMED   29302047
  REMARK    GeneRIF: Amerindian-derived population-specific Thr280Met variant
            may modify risk of diabetes mellitus by regulating exocrine enzyme
            expression.
REFERENCE   3  (bases 1 to 2502)
  AUTHORS   Vaquerizas,J.M., Kummerfeld,S.K., Teichmann,S.A. and Luscombe,N.M.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   4  (bases 1 to 2502)
  AUTHORS   Beres,T.M., Masui,T., Swift,G.H., Shi,L., Henke,R.M. and
            MacDonald,R.J.
  TITLE     PTF1 is an organ-specific and Notch-independent basic
            helix-loop-helix complex containing the mammalian Suppressor of
            Hairless (RBP-J) or its paralogue, RBP-L
  JOURNAL   Mol Cell Biol 26 (1), 117-130 (2006)
   PUBMED   16354684
  REMARK    GeneRIF: P48 interacts with the RBP-L and RBP-J subunits primarily
            through two short conserved tryptophan-containing motifs, similar
            to the motif of the Notch intracellular domain (NotchIC) that
            interacts with RBP-J.
REFERENCE   5  (bases 1 to 2502)
  AUTHORS   Tani,S., Taniwaki,M., Taniguchi,Y., Minoguchi,S., Kuroda,K.,
            Han,H., Aoki,T., Miyatake,S., Hashimoto,N. and Honjo,T.
  TITLE     Chromosomal mapping of two RBP-J-related genes: Kyo-T and RBP-L
  JOURNAL   J Hum Genet 44 (1), 73-75 (1999)
   PUBMED   9929984
REFERENCE   6  (bases 1 to 2502)
  AUTHORS   Minoguchi,S., Taniguchi,Y., Kato,H., Okazaki,T., Strobl,L.J.,
            Zimber-Strobl,U., Bornkamm,G.W. and Honjo,T.
  TITLE     RBP-L, a transcription factor related to RBP-Jkappa
  JOURNAL   Mol Cell Biol 17 (5), 2679-2687 (1997)
   PUBMED   9111338
  REMARK    GeneRIF: In mouse, there is cooperative transcriptional activity of
            RBP-L with EBNA-2.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL021578.4, DA045470.1,
            CA950939.1, AB024964.1 and BC030213.1.
            
            On Nov 23, 2018 this sequence version replaced NM_014276.3.
            
            Summary: This gene encodes a member of the suppressor of hairless
            protein family. A similar protein in mouse is a transcription
            factor that binds to DNA sequences almost identical to that bound
            by the Notch receptor signaling pathway transcription factor
            recombining binding protein J. The mouse protein has been shown to
            activate transcription in concert with Epstein-Barr virus nuclear
            antigen-2. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Jul 2013].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            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. There are no
            full-length human transcripts supporting this exon combination;
            inferred from partial human transcripts and full-length transcript
            support from the mouse ortholog (GeneID: 19668, AK131814.1).
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2151405,
                              SAMEA2153347 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000343694.8/ ENSP00000341243.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 AL021578.4         18110-18112
            4-7                 DA045470.1         1-4
            8-83                CA950939.1         4-79
            84-1363             AB024964.1         1-1280
            1364-2329           BC030213.1         523-1488
            2330-2502           AL021578.4         28922-29094
FEATURES             Location/Qualifiers
     source          1..2502
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.12"
     gene            1..2502
                     /gene="RBPJL"
                     /gene_synonym="RBPL; RBPSUHL; SUHL"
                     /note="recombination signal binding protein for
                     immunoglobulin kappa J region like"
                     /db_xref="GeneID:11317"
                     /db_xref="HGNC:HGNC:13761"
                     /db_xref="MIM:616104"
     exon            1..105
                     /gene="RBPJL"
                     /gene_synonym="RBPL; RBPSUHL; SUHL"
                     /inference="alignment:Splign:2.1.0"
     CDS             84..1637
                     /gene="RBPJL"
                     /gene_synonym="RBPL; RBPSUHL; SUHL"
                     /note="isoform 1 is encoded by transcript variant 1;
                     recombining binding protein suppressor of hairless-like
                     protein; transcription factor RBP-L"
                     /codon_start=1
                     /product="recombining binding protein suppressor of
                     hairless-like protein isoform 1"
                     /protein_id="NP_055091.2"
                     /db_xref="CCDS:CCDS13349.1"
                     /db_xref="GeneID:11317"
                     /db_xref="HGNC:HGNC:13761"
                     /db_xref="MIM:616104"
                     /translation="MDPAGAADPSVPPNPLTHLSLQDRSEMQLQSEADRRSLPGTWTR
                     SSPEHTTILRGGVRRCLQQQCEQTVRILHAKVAQKSYGNEKRFFCPPPCVYLSGPGWR
                     VKPGQDQAHQAGETGPTVCGYMGLDSASGSATETQKLNFEQQPDSREFGCAKTLYISD
                     ADKRKHFRLVLRLVLRGGRELGTFHSRLIKVISKPSQKKQSLKNTDLCISSGSKVSLF
                     NRLRSQTVSTRYLSVEDGAFVASARQWAAFTLHLADGHSAQGDFPPREGYVRYGSLVQ
                     LVCTVTGITLPPMIIRKVAKQCALLDVDEPISQLHKCAFQFPGSPPGGGGTYLCLATE
                     KVVQFQASPCPKEANRALLNDSSCWTIIGTESVEFSFSTSLACTLEPVTPVPLISTLE
                     LSGGGDVATLELHGENFHAGLKVWFGDVEAETMYRSPRSLVCVVPDVAAFCSDWRWLR
                     APITIPMSLVRADGLFYPSAFSFTYTPEYSVRPGHPGVPEPATDADALLESIHQEFTR
                     TNFHLFIQT"
     exon            106..214
                     /gene="RBPJL"
                     /gene_synonym="RBPL; RBPSUHL; SUHL"
                     /inference="alignment:Splign:2.1.0"
     exon            215..340
                     /gene="RBPJL"
                     /gene_synonym="RBPL; RBPSUHL; SUHL"
                     /inference="alignment:Splign:2.1.0"
     exon            341..411
                     /gene="RBPJL"
                     /gene_synonym="RBPL; RBPSUHL; SUHL"
                     /inference="alignment:Splign:2.1.0"
     exon            412..527
                     /gene="RBPJL"
                     /gene_synonym="RBPL; RBPSUHL; SUHL"
                     /inference="alignment:Splign:2.1.0"
     exon            528..702
                     /gene="RBPJL"
                     /gene_synonym="RBPL; RBPSUHL; SUHL"
                     /inference="alignment:Splign:2.1.0"
     exon            703..840
                     /gene="RBPJL"
                     /gene_synonym="RBPL; RBPSUHL; SUHL"
                     /inference="alignment:Splign:2.1.0"
     exon            841..950
                     /gene="RBPJL"
                     /gene_synonym="RBPL; RBPSUHL; SUHL"
                     /inference="alignment:Splign:2.1.0"
     exon            951..1103
                     /gene="RBPJL"
                     /gene_synonym="RBPL; RBPSUHL; SUHL"
                     /inference="alignment:Splign:2.1.0"
     exon            1104..1259
                     /gene="RBPJL"
                     /gene_synonym="RBPL; RBPSUHL; SUHL"
                     /inference="alignment:Splign:2.1.0"
     exon            1260..1363
                     /gene="RBPJL"
                     /gene_synonym="RBPL; RBPSUHL; SUHL"
                     /inference="alignment:Splign:2.1.0"
     exon            1364..2502
                     /gene="RBPJL"
                     /gene_synonym="RBPL; RBPSUHL; SUHL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2482..2487
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RBPJL"
                     /gene_synonym="RBPL; RBPSUHL; SUHL"
                     /note="hexamer: ATTAAA"
     polyA_site      2502
                     /gene="RBPJL"
                     /gene_synonym="RBPL; RBPSUHL; SUHL"
                     /note="major polyA site"
ORIGIN      
        1 ggggtgtgca gggttccagc gacagcagca ctggactcgt ccagagggcg gcgggtgagc
       61 ggctggggcc ccgtggagcc accatggacc ccgcaggggc agcagacccc tcagtgcctc
      121 ccaatccttt gactcacctg agcctgcagg acagatcaga gatgcagctg cagagcgaag
      181 ccgacaggcg gagcctcccg ggcacttgga ccaggtcatc cccagagcac accaccattc
      241 tgaggggagg cgtgcgcagg tgcctgcagc aacagtgtga acagactgtg cggatcctgc
      301 atgccaaggt ggcccagaaa tcatacggaa atgagaagcg gttcttctgc cccccgccct
      361 gtgtctacct ctcggggcct ggctggaggg tgaagccagg gcaggatcaa gctcaccagg
      421 cgggggaaac ggggcccacg gtctgcggtt acatgggact ggacagcgcg tccggcagcg
      481 ccactgagac gcagaagctg aatttcgagc agcagccgga ctccagggaa ttcggctgcg
      541 ccaagaccct gtacatctca gatgcagaca agaggaagca ctttcggctg gtgctgcggc
      601 tggtgctgcg cgggggccgg gagctgggta ccttccacag ccgccttatc aaggtcatct
      661 cgaagccctc gcagaagaag cagtcgctga aaaacaccga tctgtgcata tcctccggct
      721 caaaggtctc cctcttcaac cgcctgcgct ctcagacggt ctccacacgc tacctctctg
      781 tggaggatgg ggcctttgtg gccagtgcac gacagtgggc tgccttcacg ctccacctgg
      841 ctgatgggca ctctgcccaa ggagacttcc caccgcgaga gggctacgtt cgctatggct
      901 ccctggtgca gctcgtctgc acggtcaccg gcatcacact acctcccatg atcatccgta
      961 aagtagcaaa acagtgtgcg ctccttgatg tggatgagcc catctcccag ctgcacaagt
     1021 gtgcattcca gtttccaggc agtcccccag gagggggtgg cacctactta tgccttgcca
     1081 cagagaaggt ggtgcaattt caggcctctc cctgccccaa ggaggcgaac agggctctgc
     1141 ttaacgacag ctcttgctgg accatcatcg gcaccgagtc ggtggaattt tccttcagca
     1201 ccagcctggc gtgtaccctg gagccggtca ctccggtgcc tctcatcagc accctagagc
     1261 tgagcggcgg gggcgacgtg gccacgctgg agctccacgg agagaacttc cacgcggggc
     1321 tcaaggtgtg gtttggggac gtggaggcag aaaccatgta caggagcccg cggtccctgg
     1381 tgtgcgtggt gccggacgtg gcggccttct gcagcgactg gcgctggctg cgcgctccca
     1441 tcacaatccc catgagcctg gtgcgcgccg acgggctctt ctaccctagt gccttctcct
     1501 tcacctacac cccggaatac agcgtgcggc cgggtcaccc cggcgtcccc gagcccgcca
     1561 ccgacgccga cgcgctcctg gagagcatcc atcaggagtt cacgcgcacc aacttccacc
     1621 tcttcatcca gacttaggcg cgcccggtag ccccggctgc ccaccctgga gggctgcgcc
     1681 cgcgccaggc gcggggacgt gtttctgggt tctaggccct gcttccttgc ccctttgctg
     1741 cagaagggca gctgaaggct caccctagaa accgggcctg gtgggtctta cccggctcac
     1801 tccctccctt gtccttacac atacaggaag acaagacctg agtggtgctg tctttgtgtc
     1861 cgtcgtgtat ggctctccct gtcttcattt cttctcactc tgtctctaaa cctctctctc
     1921 tctcccttcc ccctcagtac ttagtctaca gacctatgtg cgtgtcccta tccttctgtc
     1981 cttttctctc ttcagctctc cctgcctctc acacacaatt ttacatgccc cgaggagcca
     2041 agtttgggac atttaccctc caggcatctg tgtcccctct tgaagagaaa acacacagct
     2101 tcacacatcc aggcataggg ggcaagctct tggggcatca ggaccctgga gcaccaggtc
     2161 cttcctggaa tattagatcc acctggagca ccgggtctct ctaagtctca cctggggaat
     2221 tcggtcccac ctggggcacc agttcccacc tagagcactg tgtcctgccc tagagcacaa
     2281 agacctgctc ctcccgagac tctctctgac tgcagccagg catagtacct ttgcctgtgt
     2341 ttgctccctg gtccacagat ttggtggctg ggcaggtgcc tggacagtga tgaggtcttg
     2401 ccgccttaac tgtccccccc agtcacttct cccacaggcc cagcaggacg cagtcctgag
     2461 gatcagggat tctacagctg cattaaaatc aatcctatcc aa
//
