LOCUS       NM_014571               4077 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens hes related family bHLH transcription factor with YRPW
            motif like (HEYL), mRNA.
ACCESSION   NM_014571
VERSION     NM_014571.4
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 4077)
  AUTHORS   Feugray,G., Grall,M., Dumesnil,C., Benhamou,Y., Brunel,V., Le Cam
            Duchez,V., Lahary,A. and Billoir,P.
  TITLE     Hypercoagulability evaluation in congenital red blood cell
            disorders using thrombin generation assay
  JOURNAL   Thromb Res 227, 82-85 (2023)
   PUBMED   37024320
  REMARK    GeneRIF: Hypercoagulability evaluation in congenital red blood cell
            disorders using thrombin generation assay.
REFERENCE   2  (bases 1 to 4077)
  AUTHORS   Brahim,S., Negulescu,A.M., Geneste,C., Schott,T., Lin,S.,
            Morel,L.O., Rama,N., Gadot,N., Treilleux,I., Mehlen,P. and
            Meurette,O.
  TITLE     Notch3 regulates Mybl2 via HeyL to limit proliferation and tumor
            initiation in breast cancer
  JOURNAL   Cell Death Dis 14 (2), 171 (2023)
   PUBMED   36854682
  REMARK    GeneRIF: Notch3 regulates Mybl2 via HeyL to limit proliferation and
            tumor initiation in breast cancer.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4077)
  AUTHORS   Fadel,H.H., Ahmed,M.A.E., Gharbeya,K.M., Mohamed,M.A.K.,
            Roushdy,M.N. and Almiry,R.
  TITLE     Partial-Methylated HeyL Promoter Predicts the Severe Illness in
            Egyptian COVID-19 Patients
  JOURNAL   Dis Markers 2022, 6780710 (2022)
   PUBMED   35655915
  REMARK    GeneRIF: Partial-Methylated HeyL Promoter Predicts the Severe
            Illness in Egyptian COVID-19 Patients.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4077)
  AUTHORS   Bodas,M., Subramaniyan,B., Moore,A.R., Metcalf,J.P., Ocanas,S.R.,
            Freeman,W.M., Georgescu,C., Wren,J.D. and Walters,M.S.
  TITLE     The NOTCH3 Downstream Target HEYL Is Required for Efficient Human
            Airway Basal Cell Differentiation
  JOURNAL   Cells 10 (11), 3215 (2021)
   PUBMED   34831437
  REMARK    GeneRIF: The NOTCH3 Downstream Target HEYL Is Required for
            Efficient Human Airway Basal Cell Differentiation.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4077)
  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   6  (bases 1 to 4077)
  AUTHORS   Nakagawa,O., McFadden,D.G., Nakagawa,M., Yanagisawa,H., Hu,T.,
            Srivastava,D. and Olson,E.N.
  TITLE     Members of the HRT family of basic helix-loop-helix proteins act as
            transcriptional repressors downstream of Notch signaling
  JOURNAL   Proc Natl Acad Sci U S A 97 (25), 13655-13660 (2000)
   PUBMED   11095750
REFERENCE   7  (bases 1 to 4077)
  AUTHORS   Firulli,B.A., Hadzic,D.B., McDaid,J.R. and Firulli,A.B.
  TITLE     The basic helix-loop-helix transcription factors dHAND and eHAND
            exhibit dimerization characteristics that suggest complex
            regulation of function
  JOURNAL   J Biol Chem 275 (43), 33567-33573 (2000)
   PUBMED   10924525
REFERENCE   8  (bases 1 to 4077)
  AUTHORS   Maier,M.M. and Gessler,M.
  TITLE     Comparative analysis of the human and mouse Hey1 promoter: Hey
            genes are new Notch target genes
  JOURNAL   Biochem Biophys Res Commun 275 (2), 652-660 (2000)
   PUBMED   10964718
REFERENCE   9  (bases 1 to 4077)
  AUTHORS   Steidl,C., Leimeister,C., Klamt,B., Maier,M., Nanda,I., Dixon,M.,
            Clarke,R., Schmid,M. and Gessler,M.
  TITLE     Characterization of the human and mouse HEY1, HEY2, and HEYL genes:
            cloning, mapping, and mutation screening of a new bHLH gene family
  JOURNAL   Genomics 66 (2), 195-203 (2000)
   PUBMED   10860664
REFERENCE   10 (bases 1 to 4077)
  AUTHORS   Leimeister,C., Externbrink,A., Klamt,B. and Gessler,M.
  TITLE     Hey genes: a novel subfamily of hairy- and Enhancer of split
            related genes specifically expressed during mouse embryogenesis
  JOURNAL   Mech Dev 85 (1-2), 173-177 (1999)
   PUBMED   10415358
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL035404.20.
            
            On Nov 23, 2018 this sequence version replaced NM_014571.3.
            
            Summary: This gene encodes a member of the hairy and enhancer of
            split-related (HESR) family of basic helix-loop-helix (bHLH)-type
            transcription factors. The sequence of the encoded protein contains
            a conserved bHLH and orange domain, but its YRPW motif has diverged
            from other HESR family members. It is thought to be an effector of
            Notch signaling and a regulator of cell fate decisions.
            Alternatively spliced transcript variants have been found, but
            their biological validity has not been determined. [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 :: SRR1803613.46681.1,
                                           SRR1803616.44887.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA2162946
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372852.4/ ENSP00000361943.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-98                AL035404.20        54071-54168         c
            99-165              AL035404.20        47174-47240         c
            166-249             AL035404.20        46021-46104         c
            250-331             AL035404.20        44752-44833         c
            332-4077            AL035404.20        37960-41705         c
FEATURES             Location/Qualifiers
     source          1..4077
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.2"
     gene            1..4077
                     /gene="HEYL"
                     /gene_synonym="bHLHb33; HESR3; HEY3; HRT3"
                     /note="hes related family bHLH transcription factor with
                     YRPW motif like"
                     /db_xref="GeneID:26508"
                     /db_xref="HGNC:HGNC:4882"
                     /db_xref="MIM:609034"
     exon            1..98
                     /gene="HEYL"
                     /gene_synonym="bHLHb33; HESR3; HEY3; HRT3"
                     /inference="alignment:Splign:2.1.0"
     CDS             19..1005
                     /gene="HEYL"
                     /gene_synonym="bHLHb33; HESR3; HEY3; HRT3"
                     /note="hairy/enhancer-of-split related with YRPW motif 3;
                     HEY-like protein; hairy-related transcription factor 3;
                     HRT-3; hHRT3; hHeyL; class B basic helix-loop-helix
                     protein 33"
                     /codon_start=1
                     /product="hairy/enhancer-of-split related with YRPW
                     motif-like protein"
                     /protein_id="NP_055386.2"
                     /db_xref="CCDS:CCDS439.1"
                     /db_xref="GeneID:26508"
                     /db_xref="HGNC:HGNC:4882"
                     /db_xref="MIM:609034"
                     /translation="MKRPKEPSGSDGESDGPIDVGQEGQLSQMARPLSTPSSSQMQAR
                     KKHRGIIEKRRRDRINSSLSELRRLVPTAFEKQGSSKLEKAEVLQMTVDHLKMLHATG
                     GTGFFDARALAVDFRSIGFRECLTEVIRYLGVLEGPSSRADPVRIRLLSHLNSYAAEM
                     EPSPTPTGPLAFPAWPWSFFHSCPGLPALSNQLAILGRVPSPVLPGVSSPAYPIPALR
                     TAPLRRATGIILPARRNVLPSRGASSTRRARPLERPATPVPVAPSSRAARSSHIAPLL
                     QSSSPTPPGPTGSAAYVAVPTPNSSSPGPAGRPAGAMLYHSWVSEITEIGAF"
     exon            99..165
                     /gene="HEYL"
                     /gene_synonym="bHLHb33; HESR3; HEY3; HRT3"
                     /inference="alignment:Splign:2.1.0"
     exon            166..249
                     /gene="HEYL"
                     /gene_synonym="bHLHb33; HESR3; HEY3; HRT3"
                     /inference="alignment:Splign:2.1.0"
     exon            250..331
                     /gene="HEYL"
                     /gene_synonym="bHLHb33; HESR3; HEY3; HRT3"
                     /inference="alignment:Splign:2.1.0"
     exon            332..4077
                     /gene="HEYL"
                     /gene_synonym="bHLHb33; HESR3; HEY3; HRT3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3331..3336
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HEYL"
                     /gene_synonym="bHLHb33; HESR3; HEY3; HRT3"
                     /note="hexamer: AATAAA"
     polyA_site      3359
                     /gene="HEYL"
                     /gene_synonym="bHLHb33; HESR3; HEY3; HRT3"
                     /note="major polyA site"
     polyA_site      3386
                     /gene="HEYL"
                     /gene_synonym="bHLHb33; HESR3; HEY3; HRT3"
     regulatory      4053..4058
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HEYL"
                     /gene_synonym="bHLHb33; HESR3; HEY3; HRT3"
                     /note="hexamer: AATAAA"
     polyA_site      4077
                     /gene="HEYL"
                     /gene_synonym="bHLHb33; HESR3; HEY3; HRT3"
ORIGIN      
        1 aggcagcctg cgttcgccat gaagcgaccc aaggagccga gcggctccga cggggagtcc
       61 gacggaccca tcgacgtggg ccaagagggc cagctgagcc agatggccag gccgctgtcc
      121 acccccagct cttcgcagat gcaagccagg aagaaacaca gagggatcat agagaaacgg
      181 cgtcgagacc gcatcaacag tagcctttct gaattgcgac gcttggtccc cactgccttt
      241 gagaaacagg gctcttccaa gctggagaaa gccgaggtct tgcagatgac ggtggatcac
      301 ttgaaaatgc tccatgccac tggtgggaca ggattctttg atgcccgagc cctggcagtt
      361 gacttccgga gcattggttt tcgggagtgc ctcactgagg tcatcaggta cctgggggtc
      421 cttgaagggc ccagcagccg tgcagacccc gtccggattc gccttctctc ccacctcaac
      481 agctacgcag ccgagatgga gccttcgccc acgcccactg gccctttggc cttccctgcc
      541 tggccctggt ctttcttcca tagctgtcca gggctgccag ccctgagcaa ccagctcgcc
      601 atcctgggaa gagtgcccag ccctgtcctc cccggtgtct cctctcctgc ttaccccatc
      661 ccagccctcc gaaccgctcc ccttcgcaga gccacaggca tcatcctgcc agcccggagg
      721 aatgtgctgc ccagtcgagg ggcatcttcc acccggaggg cccgccccct agagaggcca
      781 gcgacccctg tgcctgtcgc ccccagcagc agggctgcca ggagcagcca catcgctccc
      841 ctcctgcagt cttcctcccc aacaccccct ggtcctacag ggtcggctgc ttacgtggct
      901 gttcccaccc ccaactcatc ctccccaggg ccagctggga ggccagcggg agccatgctc
      961 taccactcct gggtctctga aatcactgaa atcggggctt tctgagctgc cccttcacca
     1021 ccccgcccca aggaataagg aaggttcttt taccaggagc ccaaaaaagg gcactgcctt
     1081 ttctgctttg cttcatggac tggctcatat gtgaaggcac gttctccagc catcagaggc
     1141 cccctcctcc tccaacccat ctctccttct cactgttatc ccagcttatc cacccagctc
     1201 tcctggagct gttctggtct cagaggcttg gttccatttc tcacctgaac agatgagtcc
     1261 tgggagagac cctcagagat ccgcccagac ccctctcctg ccctctgcac accagcagca
     1321 ggcatgaacc ttgggtctgg gaaaaagctt taacctgcag ggcaccagga cccaaggcag
     1381 gctgttcctt ggggcggtca gaccccagtc aggagcaatg actgactggc tgcagccttc
     1441 ccacgccaag aggctggaac atagtgtctg cctcgcttcc tggagatagt aactgagcag
     1501 gggctacaaa gaggtctcct gggaaccctg tctgcccctt cccacctgtc cttgggccac
     1561 accatcacac tgaaccacag gacagaccct ttctccacca cagccaaggc ctggagactg
     1621 ggggcccagc agagcctgct cccaccctcc tcccagcagc agacacccac cctctcactg
     1681 actaacaggt ccctgcacac agctggcctg gtaaacccag ctgggaggtt tctaggcagc
     1741 agcaaaactc tgtgacaggg tgtcctcaca ccaggccttg gacagctctc ccagacagga
     1801 gccagggttg agcaatggag agcccagccc ccacgtctta cagtcgccat cctccaggcg
     1861 tgtggtccct ccccattggg tgcacagtgc agaggggccg tggccccatg tgatggtgcg
     1921 cagagaggaa cctcttggga ttcagcacca gacgtctgtg ctgcctggtt tgcatccggc
     1981 tcacagagcc cagactgctg gaacagccaa ggactgtcag gctggacaaa aataactgca
     2041 aggaggggca agagaaagga tgattcgagg caccttggcc cttcaaggtc atgcagtggg
     2101 tcgagcgcct gagatcctgt tcaccaggac tccacagagc tggctctgct cagaagccat
     2161 ttcattcccc ggctccaccc taggccactt tttctaacag aggaaacaaa tggtccagca
     2221 gtcgttccca gcagaacagc ggagcctgga ctgacaccca gtgggaccag tgttgccaca
     2281 ccagttgata aaatgcagaa acccttctgt actcgttggt aaatatctac tcccccaagt
     2341 gactccaggt gccccccacc gcctggcact tcccccagga ctcctacgat ctggttactg
     2401 cctggccgat ccaaggctgt ggagtcccag agccagcagt tcactggtgc tcattccaca
     2461 ctggttagat acttcagttg tcacccctgg gaagattctc ccacctcctc cctttgatgg
     2521 aaccaccctc cccagaggct gcattgagga gactccacag actgaaaagt gagtttgcag
     2581 aaaccttggg gaaaagggcc ctttcaaaga agtggataag agggaggaga tcattgagtg
     2641 acccagaaag ctcttttgaa aagacagact cctcaaggag agataaagag gaaagcacct
     2701 ctttcatttt ttagtgtgag ctaattccat cagactgctg tcctcctgga cccatctgag
     2761 atgtgcagta gcaaggagag gggggatcat tttagagagt gggtcattgg cagggagtgc
     2821 tccggaggga ggcagagggg agactgtggt agaaggaaga cagaactcac acatgctccc
     2881 aggattgggg acagggacag aggaggtaac agaaggcaaa ggccagtttc cccgttatca
     2941 tgaaggggcc cactcaggac aggaacaagg acaactcctc ctcctcctcc tcctctcctg
     3001 ctgctcctgg gataccaggt cagtgatgta gtcttgcagt ttggcaactt cctagcctga
     3061 gaatccctag tggggctgtg ggaaacacat ttccacgttg caagcatgca actccaaaga
     3121 atctgtgatg ccactgaaat gagatgggaa tgatccagct ctttcagcat cttggttgaa
     3181 cttgctttca ttgtccctgg gatattgtgg aaggaaaggt gactgtgtga tctgattctg
     3241 tggtcaagga cttgcatctt gtgtttctat ccccaagcct tcctggtgtc tccaactcct
     3301 accccattgc atgggttgtt gcggacatcc aataaagatt tttttagtgc ttctggaaac
     3361 ttccagtaga ttctacttct aaactatctc tggagtccat ccacttctgt ctgcacccac
     3421 agccatcctg gccaggccac atcacctccc ccagatcact gccctggcct cagaaaggtc
     3481 ttccctcttg ctttgtcaat cagttctcag tagcagcaga gagaaattga aagctgcagg
     3541 tcatatcgta tcatctttag tttgaaaacc tcactctctt accctattgt tctaaaggtc
     3601 ttcttttggt cccaacctca tttccagcct catttcttgc cagtcccaga cttgctccct
     3661 gagcttctgc cacctgccct tccttcattt cctcgacatt ccagccttgt tcccacctcc
     3721 agcactttgc atatgctgtt ccctttgcca agaatgctct tcccctaccc tgtgcatggc
     3781 tgagttctgc agaccctcag gccttggctt caacgttgcc tcgtccaaga ggccttcctc
     3841 gactacttta cttgtggagt tcctctatca caaggcctct gttctttccc ttcatggaga
     3901 atttgccact gcatatccat ttgtgtaatt tacttgttgg ttgactgtgc ctcccactcg
     3961 agtgtaagct catgaggcca ggtgccatgc ctggttcagt ctccactctg tacccagcat
     4021 tgagcacagg gcctggtcca tagttggcgt tcaataaata cttgttgaag aagtgaa
//
