LOCUS       NM_005598               2557 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens nescient helix-loop-helix 1 (NHLH1), mRNA.
ACCESSION   NM_005598
VERSION     NM_005598.4
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 2557)
  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 2557)
  AUTHORS   Yin,Y., Morgunova,E., Jolma,A., Kaasinen,E., Sahu,B.,
            Khund-Sayeed,S., Das,P.K., Kivioja,T., Dave,K., Zhong,F.,
            Nitta,K.R., Taipale,M., Popov,A., Ginno,P.A., Domcke,S., Yan,J.,
            Schubeler,D., Vinson,C. and Taipale,J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of
            human transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   3  (bases 1 to 2557)
  AUTHORS   Smith,J.G., Felix,J.F., Morrison,A.C., Kalogeropoulos,A.,
            Trompet,S., Wilk,J.B., Gidlof,O., Wang,X., Morley,M., Mendelson,M.,
            Joehanes,R., Ligthart,S., Shan,X., Bis,J.C., Wang,Y.A., Sjogren,M.,
            Ngwa,J., Brandimarto,J., Stott,D.J., Aguilar,D., Rice,K.M.,
            Sesso,H.D., Demissie,S., Buckley,B.M., Taylor,K.D., Ford,I.,
            Yao,C., Liu,C., Sotoodehnia,N., van der Harst,P., Stricker,B.H.,
            Kritchevsky,S.B., Liu,Y., Gaziano,J.M., Hofman,A., Moravec,C.S.,
            Uitterlinden,A.G., Kellis,M., van Meurs,J.B., Margulies,K.B.,
            Dehghan,A., Levy,D., Olde,B., Psaty,B.M., Cupples,L.A.,
            Jukema,J.W., Djousse,L., Franco,O.H., Boerwinkle,E., Boyer,L.A.,
            Newton-Cheh,C., Butler,J., Vasan,R.S., Cappola,T.P. and Smith,N.L.
  CONSRTM   CHARGE-SCD consortium; EchoGen consortium; QT-IGC consortium;
            CHARGE-QRS consortium
  TITLE     Discovery of Genetic Variation on Chromosome 5q22 Associated with
            Mortality in Heart Failure
  JOURNAL   PLoS Genet 12 (5), e1006034 (2016)
   PUBMED   27149122
  REMARK    GeneRIF: The polymorphism was further reproducibly associated with
            a DNA methylation signature in whole blood (P = 4.5x10-40) that
            also associated with allergic sensitization and expression in blood
            of the cytokine TSLP (P = 1.1x10-4). Knockdown of the transcription
            factor predicted to bind the enhancer region (NHLH1) in a human
            cell line (HEK293) expressing NHLH1 resulted in lower TSLP
            expression
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2557)
  AUTHORS   Chen,C., Zhang,C., Cheng,L., Reilly,J.L., Bishop,J.R.,
            Sweeney,J.A., Chen,H.Y., Gershon,E.S. and Liu,C.
  TITLE     Correlation between DNA methylation and gene expression in the
            brains of patients with bipolar disorder and schizophrenia
  JOURNAL   Bipolar Disord 16 (8), 790-799 (2014)
   PUBMED   25243493
  REMARK    GeneRIF: This study identified that CGPs was found to significantly
            correlate with the differential expression and methylation of genes
            encoding nescient helix-loop-helix 1.
REFERENCE   5  (bases 1 to 2557)
  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   6  (bases 1 to 2557)
  AUTHORS   Manetopoulos,C., Hansson,A., Karlsson,J., Jonsson,J.I. and
            Axelson,H.
  TITLE     The LIM-only protein LMO4 modulates the transcriptional activity of
            HEN1
  JOURNAL   Biochem Biophys Res Commun 307 (4), 891-899 (2003)
   PUBMED   12878195
REFERENCE   7  (bases 1 to 2557)
  AUTHORS   Bao,J., Talmage,D.A., Role,L.W. and Gautier,J.
  TITLE     Regulation of neurogenesis by interactions between HEN1 and
            neuronal LMO proteins
  JOURNAL   Development 127 (2), 425-435 (2000)
   PUBMED   10603358
REFERENCE   8  (bases 1 to 2557)
  AUTHORS   Lipkowitz,S., Gobel,V., Varterasian,M.L., Nakahara,K., Tchorz,K.
            and Kirsch,I.R.
  TITLE     A comparative structural characterization of the human NSCL-1 and
            NSCL-2 genes. Two basic helix-loop-helix genes expressed in the
            developing nervous system
  JOURNAL   J Biol Chem 267 (29), 21065-21071 (1992)
   PUBMED   1328219
  REMARK    GeneRIF: expression of NSCL-1 and NSCL-2 in the developing central
            and peripheral nervous system, most likely in developing neurons.
REFERENCE   9  (bases 1 to 2557)
  AUTHORS   Brown,L., Espinosa,R. 3rd, Le Beau,M.M., Siciliano,M.J. and Baer,R.
  TITLE     HEN1 and HEN2: a subgroup of basic helix-loop-helix genes that are
            coexpressed in a human neuroblastoma
  JOURNAL   Proc Natl Acad Sci U S A 89 (18), 8492-8496 (1992)
   PUBMED   1528853
REFERENCE   10 (bases 1 to 2557)
  AUTHORS   Begley,C.G., Lipkowitz,S., Gobel,V., Mahon,K.A., Bertness,V.,
            Green,A.R., Gough,N.M. and Kirsch,I.R.
  TITLE     Molecular characterization of NSCL, a gene encoding a
            helix-loop-helix protein expressed in the developing nervous system
  JOURNAL   Proc Natl Acad Sci U S A 89 (1), 38-42 (1992)
   PUBMED   1729708
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA612092.1, AL445230.11 and M96739.1.
            
            On Nov 22, 2018 this sequence version replaced NM_005598.3.
            
            Summary: The helix-loop-helix (HLH) proteins are a family of
            putative transcription factors, some of which have been shown to
            play an important role in growth and development of a wide variety
            of tissues and species. Four members of this family have been
            clearly implicated in tumorigenesis via their involvement in
            chromosomal translocations in lymphoid tumors: MYC (MIM 190080),
            LYL1 (MIM 151440), E2A (MIM 147141), and SCL (MIM 187040).[supplied
            by OMIM, Nov 2002].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because transcript sequence consistent with
            the reference genome assembly was not available for all regions of
            the RefSeq transcript. The extent of this transcript is supported
            by transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK313700.1, M96739.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000302101.6/ ENSP00000302189.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-537               DA612092.1         1-537
            538-2099            AL445230.11        31835-33396
            2100-2557           M96739.1           2106-2563
FEATURES             Location/Qualifiers
     source          1..2557
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.2"
     gene            1..2557
                     /gene="NHLH1"
                     /gene_synonym="bHLHa35; HEN1; NSCL; NSCL1"
                     /note="nescient helix-loop-helix 1"
                     /db_xref="GeneID:4807"
                     /db_xref="HGNC:HGNC:7817"
                     /db_xref="MIM:162360"
     exon            1..267
                     /gene="NHLH1"
                     /gene_synonym="bHLHa35; HEN1; NSCL; NSCL1"
                     /inference="alignment:Splign:2.1.0"
     exon            268..2557
                     /gene="NHLH1"
                     /gene_synonym="bHLHa35; HEN1; NSCL; NSCL1"
                     /inference="alignment:Splign:2.1.0"
     CDS             443..844
                     /gene="NHLH1"
                     /gene_synonym="bHLHa35; HEN1; NSCL; NSCL1"
                     /note="HEN-1; NSCL-1; class A basic helix-loop-helix
                     protein 35"
                     /codon_start=1
                     /product="helix-loop-helix protein 1"
                     /protein_id="NP_005589.1"
                     /db_xref="CCDS:CCDS1204.1"
                     /db_xref="GeneID:4807"
                     /db_xref="HGNC:HGNC:7817"
                     /db_xref="MIM:162360"
                     /translation="MMLNSDTMELDLPPTHSETESGFSDCGGGAGPDGAGPGGPGGGQ
                     ARGPEPGEPGRKDLQHLSREERRRRRRATAKYRTAHATRERIRVEAFNLAFAELRKLL
                     PTLPPDKKLSKIEILRLAICYISYLNHVLDV"
     regulatory      2531..2536
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NHLH1"
                     /gene_synonym="bHLHa35; HEN1; NSCL; NSCL1"
                     /note="hexamer: AATAAA"
     polyA_site      2557
                     /gene="NHLH1"
                     /gene_synonym="bHLHa35; HEN1; NSCL; NSCL1"
                     /note="major polyA site"
ORIGIN      
        1 gtgtgtgtct gagggtgtgt gtgtgagtgt ggctggcccc agtacctggc caagcccacc
       61 acttccacct gggccctaca cccccacaat gtgtacccct cttatctgcc ctggagcctg
      121 tacagccatg ccacgctacc cctgagagtc tagaaagctg gtcactaact ttgcagacgg
      181 atgagccttg agcacccaga ggagactggg gctgtcaacg ctgccccttg tcctgccggc
      241 ttggatcccc tgacagggtc cttctaggct tcagactggc accctgacca tggaaccctg
      301 aagtggcagt gacttctaga gctcagtggc agaccccacg acccttcctc ccccttcctc
      361 cccctcccac caccagcttt caagctccca gagggagggg tggggagggg atcctgatct
      421 cacagggcag ggggcttcca tcatgatgct caactcagac accatggagc tggacctgcc
      481 gcccacccac tcagagactg agtcgggctt cagtgactgt gggggcgggg cgggccctga
      541 tggtgccggg cctgggggtc cgggaggggg ccaggcccga ggcccagagc cgggagagcc
      601 tggccggaaa gacctgcagc atctgagccg cgaggagcgc cggcgccggc gccgcgccac
      661 agccaagtac cgcacggccc acgccacgcg agaacgcatc cgcgtggaag ccttcaacct
      721 ggccttcgcc gagctgcgca agctgctgcc tacgctgccc cccgacaaga agctctccaa
      781 gattgagatt ctgcgcctgg ccatctgcta tatctcctac ctgaaccacg tgctggacgt
      841 ctgaactcag cctgtctccc acctcccggg cctctctggg gcccctttcc accgctcact
      901 gcttagaaag gccgcatcct ccccgagccc ttataccttg gcatggagtc ccaaaggccc
      961 tgggcacagg cagagagccc accggctggt catgagggcc tcttcctttc tctgacccag
     1021 gcacctcgag ggctattctc ctgggttcct tccggggttt attgctgagg cccagctgtg
     1081 cagaattgtt tgctagtgtg gttggtatgg aatccttgct ggctttacta agccagccac
     1141 acttggagtc tgcccccaag ctctctcact gaatgctgcc tcttctaccc ctatgtccaa
     1201 attttcagcc accacagacc tcagctgtgt atcctatctg ttctagcttc tcctgcccct
     1261 ggtggggatg ggctgtcaga attgcaaggg aggaaggctg gggttagagt ggggagtggg
     1321 cttcttcctc caagatctca gtctctcagt gcttggcaga ggggtgaggc cctggggagg
     1381 caggggttgg tgccctgact cctgtgaggg gaatctcagt agctgggaat tatggaaaaa
     1441 ctcttcctgt ttctgtccat cttgttcctg tggcttagca catacagacc tcagatctta
     1501 cttggtagtg agtgccttgc cctctttgag ctatttggct acttccctgt ccctctgact
     1561 cctactgtcc caattttctc cctccctgtg tgtcactaga gaaaaaaaaa aacaaaaacc
     1621 tagattccgg attaggggat gacatcccaa acagcccgga gtatttgcag aaggctcagg
     1681 caacgagtgg gccacatctc acttctgctt cctcatctca gcccactctg aaaatgtgca
     1741 gcaccctcac tggttcctcc ccccaacgca aggaggatgc ccaattgttg ccctctgaaa
     1801 atgcacagtt ctcctggccc taggacttac ttattacatt tttttctctt tccttgagct
     1861 gcctttggca agggaagaga cccccaactc tgcgccccta ctccatgctg ctgatcccca
     1921 cctgcgcact atagctcagg gtcagcagtg gaatgaaggg ccttagaacc tgcatagaag
     1981 aaatgaactc actgcatttc tgtgctccct cctccctcgc accaaactcc tagctctaca
     2041 agtatattta tttatttatt tatttattca tctatttatt tacttattta tttatttata
     2101 aatattgcta tttattgccg agttgtgcac tttggggtag agtgaggggc tcccagcagc
     2161 tctagctggg tctctcttgc ttcctccctg cttacgcctt tccttttctt gctccttctt
     2221 caactcctgg tgtgtgtgag catgcccttt gcttgccaca ccatatcctt tccccagatc
     2281 cacctgtcct gacactctag tcctccagga tagtgctcct cccccagctc cagggctcct
     2341 ggatgtcctt cctcaactcc ctccacccct agacaatcct acctggtccc atctgcctct
     2401 tttctctccc cagcctgccc tgtgaccctt gcctcttcct gatactccca agagcaggcc
     2461 ccaggggtct gtgtcacata tctctgtgtg attccttctg gttgcatccc caatttcata
     2521 caaaaagaaa aataaaagtg acctcgttct agcacca
//
