LOCUS       NM_001165967            1694 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens hes family bHLH transcription factor 7 (HES7),
            transcript variant 1, mRNA.
ACCESSION   NM_001165967
VERSION     NM_001165967.2
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 1694)
  AUTHORS   Matsuda,M., Hayashi,H., Garcia-Ojalvo,J., Yoshioka-Kobayashi,K.,
            Kageyama,R., Yamanaka,Y., Ikeya,M., Toguchida,J., Alev,C. and
            Ebisuya,M.
  TITLE     Species-specific segmentation clock periods are due to differential
            biochemical reaction speeds
  JOURNAL   Science 369 (6510), 1450-1455 (2020)
   PUBMED   32943519
  REMARK    GeneRIF: Species-specific segmentation clock periods are due to
            differential biochemical reaction speeds.
REFERENCE   2  (bases 1 to 1694)
  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 1694)
  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   4  (bases 1 to 1694)
  AUTHORS   Netravathi,M., Kumari,R., Kapoor,S., Dakle,P., Dwivedi,M.K.,
            Roy,S.D., Pandey,P., Saini,J., Ramakrishna,A., Navalli,D.,
            Satishchandra,P., Pal,P.K., Kumar,A. and Faruq,M.
  TITLE     Whole exome sequencing in an Indian family links Coats plus
            syndrome and dextrocardia with a homozygous novel CTC1 and a rare
            HES7 variation
  JOURNAL   BMC Med Genet 16, 5 (2015)
   PUBMED   25928698
  REMARK    GeneRIF: an Indian family links Coats plus syndrome and
            dextrocardia with a homozygous novel CTC1 and a rare HES7 variation
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1694)
  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 1694)
  AUTHORS   Sparrow,D.B., Guillen-Navarro,E., Fatkin,D. and Dunwoodie,S.L.
  TITLE     Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes
            spondylocostal dysostosis
  JOURNAL   Hum Mol Genet 17 (23), 3761-3766 (2008)
   PUBMED   18775957
  REMARK    GeneRIF: R25W missense mutation of HES7 is causative of
            Spondylocostal dysostosis.
REFERENCE   7  (bases 1 to 1694)
  AUTHORS   Katoh,M. and Katoh,M.
  TITLE     Integrative genomic analyses on HES/HEY family: Notch-independent
            HES1, HES3 transcription in undifferentiated ES cells, and
            Notch-dependent HES1, HES5, HEY1, HEY2, HEYL transcription in fetal
            tissues, adult tissues, or cancer
  JOURNAL   Int J Oncol 31 (2), 461-466 (2007)
   PUBMED   17611704
REFERENCE   8  (bases 1 to 1694)
  AUTHORS   Bessho,Y., Miyoshi,G., Sakata,R. and Kageyama,R.
  TITLE     Hes7: a bHLH-type repressor gene regulated by Notch and expressed
            in the presomitic mesoderm
  JOURNAL   Genes Cells 6 (2), 175-185 (2001)
   PUBMED   11260262
REFERENCE   9  (bases 1 to 1694)
  AUTHORS   Turnpenny,P.D., Sloman,M. and Dunwoodie,S.
  TITLE     Spondylocostal Dysostosis, Autosomal Recessive
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301771
REFERENCE   10 (bases 1 to 1694)
  AUTHORS   Longoni,M., Pober,B.R. and High,F.A.
  TITLE     Congenital Diaphragmatic Hernia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301533
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC129492.6, BI259590.1 and
            BC039887.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001165967.1.
            
            Summary: This gene encodes a member of the hairy and enhancer of
            split family of bHLH transcription factors. The mouse ortholog of
            this gene is regulated by Notch signaling. The protein functions as
            a transcriptional repressor, and is implicated in correct
            patterning of the axial skeleton. A mutation in this gene has been
            shown to result in spondylocostal dysostosis. Multiple transcript
            variants encoding different isoforms have been found for this
            gene.[provided by RefSeq, Sep 2009].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer 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.
            
            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 :: BC039887.1, BI335370.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN02400288, SAMN02400289
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000541682.7/ ENSP00000446205.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-14                AC129492.6         118969-118982       c
            15-27               BI259590.1         1-13
            28-1366             BC039887.1         12-1350
            1367-1386           AC129492.6         115776-115795       c
            1387-1694           BC039887.1         1371-1678
FEATURES             Location/Qualifiers
     source          1..1694
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.1"
     gene            1..1694
                     /gene="HES7"
                     /gene_synonym="bHLHb37; hHes7; SCDO4"
                     /note="hes family bHLH transcription factor 7"
                     /db_xref="GeneID:84667"
                     /db_xref="HGNC:HGNC:15977"
                     /db_xref="MIM:608059"
     exon            1..64
                     /gene="HES7"
                     /gene_synonym="bHLHb37; hHes7; SCDO4"
                     /inference="alignment:Splign:2.1.0"
     CDS             23..715
                     /gene="HES7"
                     /gene_synonym="bHLHb37; hHes7; SCDO4"
                     /note="isoform 1 is encoded by transcript variant 1; bHLH
                     factor Hes7; transcription factor HES-7; class B basic
                     helix-loop-helix protein 37; hairy and enhancer of split
                     7"
                     /codon_start=1
                     /product="transcription factor HES-7 isoform 1"
                     /protein_id="NP_001159439.1"
                     /db_xref="CCDS:CCDS54085.1"
                     /db_xref="GeneID:84667"
                     /db_xref="HGNC:HGNC:15977"
                     /db_xref="MIM:608059"
                     /translation="MVTRDRAENRDGPKMLKPLVEKRRRDRINRSLEELRLLLLERTR
                     DQNLRNPKLEKAEILEFAVGYLRERSRVEPPAAAAPGVPRSPVQDAEALASCYLSGFR
                     ECLLRLAAFAHDASPAARAQLFSALHGYLRPKPPRPKPVDPRPPAPRPSLDPAAPALG
                     PALHQRPPVHQGHPSPRCAWSPSLCSPRAGDSGAPAPLTGLLPPPPPPHRQDGAPKAP
                     LPPPPAFWRPWP"
     exon            65..160
                     /gene="HES7"
                     /gene_synonym="bHLHb37; hHes7; SCDO4"
                     /inference="alignment:Splign:2.1.0"
     exon            161..248
                     /gene="HES7"
                     /gene_synonym="bHLHb37; hHes7; SCDO4"
                     /inference="alignment:Splign:2.1.0"
     exon            249..1694
                     /gene="HES7"
                     /gene_synonym="bHLHb37; hHes7; SCDO4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1001..1006
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HES7"
                     /gene_synonym="bHLHb37; hHes7; SCDO4"
                     /note="hexamer: AATAAA"
     polyA_site      1022
                     /gene="HES7"
                     /gene_synonym="bHLHb37; hHes7; SCDO4"
                     /note="major polyA site"
     regulatory      1266..1271
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HES7"
                     /gene_synonym="bHLHb37; hHes7; SCDO4"
                     /note="hexamer: AATAAA"
     polyA_site      1308
                     /gene="HES7"
                     /gene_synonym="bHLHb37; hHes7; SCDO4"
     regulatory      1673..1678
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HES7"
                     /gene_synonym="bHLHb37; hHes7; SCDO4"
                     /note="hexamer: AATAAA"
     polyA_site      1694
                     /gene="HES7"
                     /gene_synonym="bHLHb37; hHes7; SCDO4"
ORIGIN      
        1 ccacacaggg tccggaggag caatggtcac ccgggatcga gctgagaata gggacggccc
       61 caagatgctc aagccgcttg tggagaagcg gcgccgggac cgcatcaacc gcagcctgga
      121 agagctgagg ctgctgctgc tggagcggac ccgggaccag aacctccgga acccgaagct
      181 ggagaaagcg gagatattgg agttcgccgt gggctacttg agggagcgaa gccgggtgga
      241 gcccccggcc gccgcggctc caggggttcc ccggtcccca gtccaggacg ccgaggcgct
      301 cgccagctgc tacttgtccg gtttccgcga gtgcctgctt cgcttggcgg ccttcgcgca
      361 cgacgccagc ccggccgccc gcgcccagct cttctccgcg ctgcacggct atctgcgccc
      421 caaaccgccc cggcccaagc cggtagatcc gaggcctcca gcgccgcgcc catccctgga
      481 ccccgccgca ccggcccttg gccctgcgct gcaccagcgc cccccagtgc accagggcca
      541 ccctagcccg cgctgcgcat ggtccccatc cctctgctcc ccgcgcgccg gggattctgg
      601 cgcgccggcg cccctcaccg gactgctgcc gccgccaccg ccgcctcaca gacaagacgg
      661 ggcgcccaag gccccgctgc ccccgccgcc cgctttctgg agaccttggc cctgagcctt
      721 ggggggtggt gggggcgggg tctaggggtg gggtagagac tccagcccga gggcagcaga
      781 gggacccggg cgtccgggcg agcaggtgtt ggggagggca gtggggcgcg cgggctcagc
      841 gcgcgggtga gatgtggtct atattagagt atctatataa atatatattt ccctggttcc
      901 tgtccctttt ccctgcccca acttctccct tgcgtctagg attgtactct ctctgcccct
      961 cagcccagtc ccagtccctt cccgagtccc tagtgcatgg aataaagtgg ttattaaatc
     1021 cccgtgtgtc cccgagccag gggcctgcct ttatctcgac gtccacgccc actttccctt
     1081 cccttctgtc tcccaccctc agtcctgctc tccatggccc aagccccggg gcagacaggt
     1141 aagtaaagaa gagagcagag cgggaactga gatcgaaatt gaaaccaggt ggaaagagag
     1201 agatagggta gggggagaag ggatgggggc ctttaagaaa aaaacggata aaaaggaaaa
     1261 attgaaataa aatcgactct ggtgggattc gaacccacaa cctttgaatt gctctattcg
     1321 tcactagaag tccaatgcgc tatccattgc gccacagagc cacccgacga acggcggcgt
     1381 cttgtagctt acgggtacta gagtgggaat ggggcagggt tggggagcgg ggctaaggga
     1441 cttgggcggg acatgccagg agggcgcggt ttggatctca gaggccaagc caggtagagg
     1501 tagcgggcgc aaagcatgtt agccaggtga gagagagggc gcacatgggt cgaaaaaaca
     1561 gggagggaga gcaaccgaaa atggctgagc gagcgagtgc agagctccgg ctgcccgctt
     1621 ggggggtgtt tccggctcag gcgctcccca ctcccagata tagtcccacc caaataaact
     1681 agttttgttg taaa
//
