LOCUS       NM_012258               2197 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens hes related family bHLH transcription factor with YRPW
            motif 1 (HEY1), transcript variant 1, mRNA.
ACCESSION   NM_012258
VERSION     NM_012258.4
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 2197)
  AUTHORS   Ren,R., Ding,S., Ma,K., Jiang,Y., Wang,Y., Chen,J., Wang,Y.,
            Kou,Y., Fan,X., Zhu,X., Qin,L., Qiu,C., Simons,M., Wei,X. and Yu,L.
  TITLE     SUMOylation Fine-Tunes Endothelial HEY1 in the Regulation of
            Angiogenesis
  JOURNAL   Circ Res 134 (2), 203-222 (2024)
   PUBMED   38166414
  REMARK    GeneRIF: SUMOylation Fine-Tunes Endothelial HEY1 in the Regulation
            of Angiogenesis.
REFERENCE   2  (bases 1 to 2197)
  AUTHORS   Gao,J., Li,Y., Zou,X., Lei,T., Xu,T., Chen,Y. and Wang,Z.
  TITLE     HEY1-mediated cisplatin resistance in lung adenocarcinoma via
            epithelial-mesenchymal transition
  JOURNAL   Med Oncol 40 (1), 18 (2022)
   PUBMED   36396748
  REMARK    GeneRIF: HEY1-mediated cisplatin resistance in lung adenocarcinoma
            via epithelial-mesenchymal transition.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2197)
  AUTHORS   Wang,G., Li,H. and Hou,Y.
  TITLE     LncRNA MAGI2-AS3 inhibits tumor progression and angiogenesis by
            regulating ACY1 via interacting with transcription factor HEY1 in
            clear cell renal cell carcinoma
  JOURNAL   Cancer Gene Ther 29 (5), 585-596 (2022)
   PUBMED   34002044
  REMARK    GeneRIF: LncRNA MAGI2-AS3 inhibits tumor progression and
            angiogenesis by regulating ACY1 via interacting with transcription
            factor HEY1 in clear cell renal cell carcinoma.
REFERENCE   4  (bases 1 to 2197)
  AUTHORS   Qin,Y., Huttlin,E.L., Winsnes,C.F., Gosztyla,M.L., Wacheul,L.,
            Kelly,M.R., Blue,S.M., Zheng,F., Chen,M., Schaffer,L.V., Licon,K.,
            Backstrom,A., Vaites,L.P., Lee,J.J., Ouyang,W., Liu,S.N., Zhang,T.,
            Silva,E., Park,J., Pitea,A., Kreisberg,J.F., Gygi,S.P., Ma,J.,
            Harper,J.W., Yeo,G.W., Lafontaine,D.L.J., Lundberg,E. and Ideker,T.
  TITLE     A multi-scale map of cell structure fusing protein images and
            interactions
  JOURNAL   Nature 600 (7889), 536-542 (2021)
   PUBMED   34819669
REFERENCE   5  (bases 1 to 2197)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   6  (bases 1 to 2197)
  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   7  (bases 1 to 2197)
  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   8  (bases 1 to 2197)
  AUTHORS   Chin,M.T., Maemura,K., Fukumoto,S., Jain,M.K., Layne,M.D.,
            Watanabe,M., Hsieh,C.M. and Lee,M.E.
  TITLE     Cardiovascular basic helix loop helix factor 1, a novel
            transcriptional repressor expressed preferentially in the
            developing and adult cardiovascular system
  JOURNAL   J Biol Chem 275 (9), 6381-6387 (2000)
   PUBMED   10692439
REFERENCE   9  (bases 1 to 2197)
  AUTHORS   Kokubo,H., Lun,Y. and Johnson,R.L.
  TITLE     Identification and expression of a novel family of bHLH cDNAs
            related to Drosophila hairy and enhancer of split
  JOURNAL   Biochem Biophys Res Commun 260 (2), 459-465 (1999)
   PUBMED   10403790
REFERENCE   10 (bases 1 to 2197)
  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 DA561783.1, BC001873.1 and
            AF232239.1.
            
            On Nov 23, 2018 this sequence version replaced NM_012258.3.
            
            Summary: This gene encodes a nuclear protein belonging to the hairy
            and enhancer of split-related (HESR) family of basic
            helix-loop-helix (bHLH)-type transcriptional repressors. Expression
            of this gene is induced by the Notch and c-Jun signal transduction
            pathways. Two similar and redundant genes in mouse are required for
            embryonic cardiovascular development, and are also implicated in
            neurogenesis and somitogenesis. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the predominant
            isoform (a).
            
            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 :: AK226041.1, SRR1803613.170156.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2157437, SAMN03267763
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000354724.8/ ENSP00000346761.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-7                 DA561783.1         98-104
            8-2176              BC001873.1         1-2169
            2177-2197           AF232239.1         2177-2197
FEATURES             Location/Qualifiers
     source          1..2197
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q21.13"
     gene            1..2197
                     /gene="HEY1"
                     /gene_synonym="BHLHb31; CHF2; HERP2; HESR1; hHRT1; HRT-1;
                     NERP2; OAF1"
                     /note="hes related family bHLH transcription factor with
                     YRPW motif 1"
                     /db_xref="GeneID:23462"
                     /db_xref="HGNC:HGNC:4880"
                     /db_xref="MIM:602953"
     exon            1..193
                     /gene="HEY1"
                     /gene_synonym="BHLHb31; CHF2; HERP2; HESR1; hHRT1; HRT-1;
                     NERP2; OAF1"
                     /inference="alignment:Splign:2.1.0"
     CDS             105..1019
                     /gene="HEY1"
                     /gene_synonym="BHLHb31; CHF2; HERP2; HESR1; hHRT1; HRT-1;
                     NERP2; OAF1"
                     /note="isoform a is encoded by transcript variant 1;
                     HES-related repressor protein 2; cardiovascular
                     helix-loop-helix factor 2; hairy-related transcription
                     factor 1; basic helix-loop-helix protein OAF1;
                     hairy/enhancer-of-split related with YRPW motif protein 1;
                     HES-related repressor protein 1; class B basic
                     helix-loop-helix protein 31; hairy and enhancer of
                     split-related protein 1; hairy/enhancer-of-split related
                     with YRPW motif 1"
                     /codon_start=1
                     /product="hairy/enhancer-of-split related with YRPW motif
                     protein 1 isoform a"
                     /protein_id="NP_036390.3"
                     /db_xref="CCDS:CCDS6225.1"
                     /db_xref="GeneID:23462"
                     /db_xref="HGNC:HGNC:4880"
                     /db_xref="MIM:602953"
                     /translation="MKRAHPEYSSSDSELDETIEVEKESADENGNLSSALGSMSPTTS
                     SQILARKRRRGIIEKRRRDRINNSLSELRRLVPSAFEKQGSAKLEKAEILQMTVDHLK
                     MLHTAGGKGYFDAHALAMDYRSLGFRECLAEVARYLSIIEGLDASDPLRVRLVSHLNN
                     YASQREAASGAHAGLGHIPWGTVFGHHPHIAHPLLLPQNGHGNAGTTASPTEPHHQGR
                     LGSAHPEAPALRAPPSGSLGPVLPVVTSASKLSPPLLSSVASLSAFPFSFGSFHLLSP
                     NALSPSAPTQAANLGKPYRPWGTEIGAF"
     exon            194..269
                     /gene="HEY1"
                     /gene_synonym="BHLHb31; CHF2; HERP2; HESR1; hHRT1; HRT-1;
                     NERP2; OAF1"
                     /inference="alignment:Splign:2.1.0"
     exon            270..353
                     /gene="HEY1"
                     /gene_synonym="BHLHb31; CHF2; HERP2; HESR1; hHRT1; HRT-1;
                     NERP2; OAF1"
                     /inference="alignment:Splign:2.1.0"
     exon            354..435
                     /gene="HEY1"
                     /gene_synonym="BHLHb31; CHF2; HERP2; HESR1; hHRT1; HRT-1;
                     NERP2; OAF1"
                     /inference="alignment:Splign:2.1.0"
     exon            436..2197
                     /gene="HEY1"
                     /gene_synonym="BHLHb31; CHF2; HERP2; HESR1; hHRT1; HRT-1;
                     NERP2; OAF1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2175..2180
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HEY1"
                     /gene_synonym="BHLHb31; CHF2; HERP2; HESR1; hHRT1; HRT-1;
                     NERP2; OAF1"
                     /note="hexamer: AATAAA"
     polyA_site      2183
                     /gene="HEY1"
                     /gene_synonym="BHLHb31; CHF2; HERP2; HESR1; hHRT1; HRT-1;
                     NERP2; OAF1"
                     /note="major polyA site"
     polyA_site      2197
                     /gene="HEY1"
                     /gene_synonym="BHLHb31; CHF2; HERP2; HESR1; hHRT1; HRT-1;
                     NERP2; OAF1"
                     /note="major polyA site"
ORIGIN      
        1 agtgtgtgcg gaacgcaagc agccgagagc ggagaggcgc cgctgtagtt aactcctccc
       61 tgcccgccgc gccgaccctc cccaggaacc cccagggagc cagcatgaag cgagctcacc
      121 ccgagtacag ctcctcggac agcgagctgg acgagaccat cgaggtggag aaggagagtg
      181 cggacgagaa tggaaacttg agttcggctc taggttccat gtccccaact acatcttccc
      241 agattttggc cagaaaaaga cggagaggaa taattgagaa gcgccgacga gaccggatca
      301 ataacagttt gtctgagctg agaaggctgg tacccagtgc ttttgagaag cagggatctg
      361 ctaagctaga aaaagccgag atcctgcaga tgaccgtgga tcacctgaaa atgctgcata
      421 cggcaggagg gaaaggttac tttgacgcgc acgcccttgc tatggactat cggagtttgg
      481 gatttcggga atgcctggca gaagttgcgc gttatctgag catcattgaa ggactagatg
      541 cctctgaccc gcttcgagtt cgactggttt cgcatctcaa caactacgct tcccagcggg
      601 aagccgcgag cggcgcccac gcgggcctcg gacacattcc ctgggggacc gtcttcggac
      661 atcacccgca catcgcgcac ccgctgttgc tgccccagaa cggccacggg aacgcgggca
      721 ccacggcctc acccacggaa ccgcaccacc agggcaggct gggctcggca catccggagg
      781 cgcctgcttt gcgagcgccc cctagcggca gcctcggacc ggtgctccct gtggtcacct
      841 ccgcctccaa actgtcgccg cctctgctct cctcagtggc ctccctgtcg gccttcccct
      901 tctctttcgg ctccttccac ttactgtctc ccaatgcact gagcccttca gcacccacgc
      961 aggctgcaaa ccttggcaag ccctatagac cttgggggac ggagatcgga gctttttaaa
     1021 gaactgatgt agaatgaggg aggggaaagt ttaaaatccc agctgggctg gactgttgcc
     1081 aacatcacct taaagtcgtc agtaaaagta aaaaggaaaa aggtacactt tcagataatt
     1141 ttttttttaa agactaaagg tttgttggtt tacttttatc ttttttaatg tttttttcat
     1201 catgtcatgt attagcagtt tttaaaaact agttgttaaa ttttgttcaa gacattaaat
     1261 tgaaatagtg agtataagcc aacactttgt gataggtttg tactgtgcct aatttacttt
     1321 gtaaaccaga atgattccgt ttttgcctca aaatttgggg aatcttaaca tttagtattt
     1381 ttggtctgtt tttctccttg tatagttatg gtctgttttt agaattaatt ttccaaacca
     1441 ctatgcttaa tgttaacatg attctgtttg ttaatatttt gacagattaa ggtgttgtat
     1501 aaataatatt cttttggggg gaggggaact atattgaatt ttatatttct gagcaaagcg
     1561 ttgacaaatc agatgatcag ctttatccaa gaaagaagac tagtaaattg tctgcctcct
     1621 atagcagaaa ggtgaatgta caaactgttg gtggccctga atccatctga ccagctgctg
     1681 gtatctgcca ggactggcag ttctgattta gttaggagag agccgctgat aggttaggtc
     1741 tcatttggag tgttggtgga aaggaaactg aaggtaattg aatagaatac gcctgcattt
     1801 accagcccca gcaacacaaa gaatttttaa tcacacggat ctcaaattca caaatgttaa
     1861 catggataag tgatcatggt gtgcgagtgg tcaattgagt agtacagtgg aaactgttaa
     1921 atgcataacc taattttcct gggactgcca tattttcttt taactggaaa tttttatgtg
     1981 agttttcctt ttggtgcatg gaactgtggt tgccaaggta tttaaaaggg ctttcctgcc
     2041 tccttctctt tgatttattt aatttgattt gggctataaa atatcatttt tcaggtttat
     2101 tcttttagca ggtgtagtta aacgacctcc actgaactgg gtttgacctc tgttgtactg
     2161 atgtgttgtg actaaataaa aaagaaagaa caaagta
//
