LOCUS       NM_030762               3743 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens basic helix-loop-helix family member e41 (BHLHE41),
            mRNA.
ACCESSION   NM_030762
VERSION     NM_030762.3
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 3743)
  AUTHORS   Tuerxun,M., Zheng,X., Xu,J., Yang,Q., Yuan,T., Zhang,C. and Zhou,S.
  TITLE     High expression of DEC2 distinguishes chondroblastic osteosarcoma
            and promotes tumour growth by activating the VEGFC/VEGFR2
            signalling pathway
  JOURNAL   J Cell Mol Med 28 (11), e18462 (2024)
   PUBMED   38847478
  REMARK    GeneRIF: High expression of DEC2 distinguishes chondroblastic
            osteosarcoma and promotes tumour growth by activating the
            VEGFC/VEGFR2 signalling pathway.
REFERENCE   2  (bases 1 to 3743)
  AUTHORS   Podlesny-Drabiniok,A., Novikova,G., Liu,Y., Dunst,J., Temizer,R.,
            Giannarelli,C., Marro,S., Kreslavsky,T., Marcora,E. and Goate,A.M.
  TITLE     BHLHE40/41 regulate microglia and peripheral macrophage responses
            associated with Alzheimer's disease and other disorders of
            lipid-rich tissues
  JOURNAL   Nat Commun 15 (1), 2058 (2024)
   PUBMED   38448474
  REMARK    GeneRIF: BHLHE40/41 regulate microglia and peripheral macrophage
            responses associated with Alzheimer's disease and other disorders
            of lipid-rich tissues.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3743)
  AUTHORS   Furukawa,T., Mimami,K., Nagata,T., Yamamoto,M., Sato,M. and
            Tanimoto,A.
  TITLE     Approach to Functions of BHLHE41/DEC2 in Non-Small Lung Cancer
            Development
  JOURNAL   Int J Mol Sci 24 (14), 11731 (2023)
   PUBMED   37511489
  REMARK    GeneRIF: Approach to Functions of BHLHE41/DEC2 in Non-Small Lung
            Cancer Development.
            Review article
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3743)
  AUTHORS   Nagata,T., Minami,K., Yamamoto,M., Hiraki,T., Idogawa,M.,
            Fujimoto,K., Kageyama,S., Tabata,K., Kawahara,K., Ueda,K.,
            Ikeda,R., Kato,Y., Komatsu,M., Tanimoto,A., Furukawa,T. and Sato,M.
  TITLE     BHLHE41/DEC2 Expression Induces Autophagic Cell Death in Lung
            Cancer Cells and Is Associated with Favorable Prognosis for
            Patients with Lung Adenocarcinoma
  JOURNAL   Int J Mol Sci 22 (21), 11509 (2021)
   PUBMED   34768959
  REMARK    GeneRIF: BHLHE41/DEC2 Expression Induces Autophagic Cell Death in
            Lung Cancer Cells and Is Associated with Favorable Prognosis for
            Patients with Lung Adenocarcinoma.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3743)
  AUTHORS   Wang,X., Sato,F., Tanimoto,K., Rajeshwaran,N., Thangavelu,L.,
            Makishima,M. and Bhawal,U.K.
  TITLE     The Potential Roles of Dec1 and Dec2 in Periodontal Inflammation
  JOURNAL   Int J Mol Sci 22 (19), 10349 (2021)
   PUBMED   34638690
  REMARK    GeneRIF: The Potential Roles of Dec1 and Dec2 in Periodontal
            Inflammation.
            Review article
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3743)
  AUTHORS   Miyazaki,K., Kawamoto,T., Tanimoto,K., Nishiyama,M., Honda,H. and
            Kato,Y.
  TITLE     Identification of functional hypoxia response elements in the
            promoter region of the DEC1 and DEC2 genes
  JOURNAL   J Biol Chem 277 (49), 47014-47021 (2002)
   PUBMED   12354771
  REMARK    GeneRIF: DEC1 and DEC2 may play a crucial role in the adaptation to
            hypoxia
REFERENCE   7  (bases 1 to 3743)
  AUTHORS   Honma,S., Kawamoto,T., Takagi,Y., Fujimoto,K., Sato,F., Noshiro,M.,
            Kato,Y. and Honma,K.
  TITLE     Dec1 and Dec2 are regulators of the mammalian molecular clock
  JOURNAL   Nature 419 (6909), 841-844 (2002)
   PUBMED   12397359
  REMARK    GeneRIF: Dec1 and Dec2 are regulators of the mammalian molecular
            clock, and form a fifth clock-gene family. [dec1]
REFERENCE   8  (bases 1 to 3743)
  AUTHORS   Garriga-Canut,M., Roopra,A. and Buckley,N.J.
  TITLE     The basic helix-loop-helix protein, sharp-1, represses
            transcription by a histone deacetylase-dependent and histone
            deacetylase-independent mechanism
  JOURNAL   J Biol Chem 276 (18), 14821-14828 (2001)
   PUBMED   11278948
REFERENCE   9  (bases 1 to 3743)
  AUTHORS   Fujimoto,K., Shen,M., Noshiro,M., Matsubara,K., Shingu,S.,
            Honda,K., Yoshida,E., Suardita,K., Matsuda,Y. and Kato,Y.
  TITLE     Molecular cloning and characterization of DEC2, a new member of
            basic helix-loop-helix proteins
  JOURNAL   Biochem Biophys Res Commun 280 (1), 164-171 (2001)
   PUBMED   11162494
REFERENCE   10 (bases 1 to 3743)
  AUTHORS   Grottke,C., Mantwill,K., Dietel,M., Schadendorf,D. and Lage,H.
  TITLE     Identification of differentially expressed genes in human melanoma
            cells with acquired resistance to various antineoplastic drugs
  JOURNAL   Int J Cancer 88 (4), 535-546 (2000)
   PUBMED   11058868
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC025968.1, AB044088.1 and
            AW500664.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_030762.2.
            
            Summary: This gene encodes a basic helix-loop-helix protein
            expressed in various tissues. The encoded protein can interact with
            ARNTL or compete for E-box binding sites in the promoter of PER1
            and repress CLOCK/ARNTL's transactivation of PER1. This gene is
            believed to be involved in the control of circadian rhythm and cell
            differentiation. Defects in this gene are associated with the short
            sleep phenotype. [provided by RefSeq, Feb 2014].
            
            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 :: AB044088.1, BC025968.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000242728.5/ ENSP00000242728.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1150              BC025968.1         34-1183
            1151-2249           AB044088.1         1027-2125
            2250-3357           BC025968.1         2283-3390
            3358-3703           AW500664.1         7-352               c
            3704-3743           AB044088.1         3582-3621
FEATURES             Location/Qualifiers
     source          1..3743
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p12.1"
     gene            1..3743
                     /gene="BHLHE41"
                     /gene_synonym="BHLHB3; DEC2; FNSS1; hDEC2; SHARP1"
                     /note="basic helix-loop-helix family member e41"
                     /db_xref="GeneID:79365"
                     /db_xref="HGNC:HGNC:16617"
                     /db_xref="MIM:606200"
     exon            1..320
                     /gene="BHLHE41"
                     /gene_synonym="BHLHB3; DEC2; FNSS1; hDEC2; SHARP1"
                     /inference="alignment:Splign:2.1.0"
     CDS             259..1707
                     /gene="BHLHE41"
                     /gene_synonym="BHLHB3; DEC2; FNSS1; hDEC2; SHARP1"
                     /note="basic helix-loop-helix domain containing, class B,
                     3; enhancer-of-split and hairy-related protein 1;
                     differentially expressed in chondrocytes protein 2"
                     /codon_start=1
                     /product="class E basic helix-loop-helix protein 41"
                     /protein_id="NP_110389.1"
                     /db_xref="CCDS:CCDS8706.1"
                     /db_xref="GeneID:79365"
                     /db_xref="HGNC:HGNC:16617"
                     /db_xref="MIM:606200"
                     /translation="MDEGIPHLQERQLLEHRDFIGLDYSSLYMCKPKRSMKRDDTKDT
                     YKLPHRLIEKKRRDRINECIAQLKDLLPEHLKLTTLGHLEKAVVLELTLKHLKALTAL
                     TEQQHQKIIALQNGERSLKSPIQSDLDAFHSGFQTCAKEVLQYLSRFESWTPREPRCV
                     QLINHLHAVATQFLPTPQLLTQQVPLSKGTGAPSAAGSAAAPCLERAGQKLEPLAYCV
                     PVIQRTQPSAELAAENDTDTDSGYGGEAEARPDREKGKGAGASRVTIKQEPPGEDSPA
                     PKRMKLDSRGGGSGGGPGGGAAAAAAALLGPDPAAAAALLRPDAALLSSLVAFGGGGG
                     APFPQPAAAAAPFCLPFCFLSPSAAAAYVQPFLDKSGLEKYLYPAAAAAPFPLLYPGI
                     PAPAAAAAAAAAAAAAAAAFPCLSSVLSPPPEKAGAAAATLLPHEVAPLGAPHPQHPH
                     GRTHLPFAGPREPGNPESSAQEDPSQPGKEAP"
     exon            321..384
                     /gene="BHLHE41"
                     /gene_synonym="BHLHB3; DEC2; FNSS1; hDEC2; SHARP1"
                     /inference="alignment:Splign:2.1.0"
     exon            385..492
                     /gene="BHLHE41"
                     /gene_synonym="BHLHB3; DEC2; FNSS1; hDEC2; SHARP1"
                     /inference="alignment:Splign:2.1.0"
     exon            493..604
                     /gene="BHLHE41"
                     /gene_synonym="BHLHB3; DEC2; FNSS1; hDEC2; SHARP1"
                     /inference="alignment:Splign:2.1.0"
     exon            605..3743
                     /gene="BHLHE41"
                     /gene_synonym="BHLHB3; DEC2; FNSS1; hDEC2; SHARP1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3336..3341
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BHLHE41"
                     /gene_synonym="BHLHB3; DEC2; FNSS1; hDEC2; SHARP1"
                     /note="hexamer: AATAAA"
     polyA_site      3360
                     /gene="BHLHE41"
                     /gene_synonym="BHLHB3; DEC2; FNSS1; hDEC2; SHARP1"
                     /note="major polyA site"
     regulatory      3494..3499
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BHLHE41"
                     /gene_synonym="BHLHB3; DEC2; FNSS1; hDEC2; SHARP1"
                     /note="hexamer: AATAAA"
     polyA_site      3514
                     /gene="BHLHE41"
                     /gene_synonym="BHLHB3; DEC2; FNSS1; hDEC2; SHARP1"
                     /note="major polyA site"
     regulatory      3714..3719
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BHLHE41"
                     /gene_synonym="BHLHB3; DEC2; FNSS1; hDEC2; SHARP1"
                     /note="hexamer: AATGAA"
     polyA_site      3743
                     /gene="BHLHE41"
                     /gene_synonym="BHLHB3; DEC2; FNSS1; hDEC2; SHARP1"
ORIGIN      
        1 caaacactgc ctggagtgag agcaaactac cagcgcagtg gggccggcgc gagtgtgcgt
       61 gtgtgtgcgt gtgtgtgtgc gagcgcggtg gagggggggg accaactgct tcacactttc
      121 aacactgcac tgaagaggga gagcgagaga gagactggag acgcacagat ccccccaagg
      181 tctcccaagc ctaccgtccc acagattatt gtacagagcc ccaaaaatcg aaacagagga
      241 aacgaacagc agttgaacat ggacgaagga attcctcatt tgcaagagag acagttactg
      301 gaacatagag attttatagg actggactat tcctctttgt atatgtgtaa acccaaaagg
      361 agcatgaaac gagacgacac caaggatacc tacaaattac cgcacagatt aatagaaaag
      421 aaaagaagag accgaattaa tgaatgcatt gctcagctga aagatttact gcctgaacat
      481 ctgaaattga caactctggg acatctggag aaagctgtag tcttggaatt aactttgaaa
      541 cacttaaaag ctttaaccgc cttaaccgag caacagcatc agaagataat tgctttacag
      601 aatggggagc gatctctgaa atcgcccatt cagtccgact tggatgcgtt ccactcggga
      661 tttcaaacat gcgccaaaga agtcttgcaa tacctctccc ggtttgagag ctggacaccc
      721 agggagccgc ggtgtgtcca gctgatcaac cacttgcacg ccgtggccac ccagttcttg
      781 cccaccccgc agctgttgac tcaacaggtc cctctgagca aaggcaccgg cgctccctcg
      841 gccgccgggt ccgcggccgc cccctgcctg gagcgcgcgg ggcagaagct ggagcccctc
      901 gcctactgcg tgcccgtcat ccagcggact cagcccagcg ccgagctcgc cgccgagaac
      961 gacacggaca ccgacagcgg ctacggcggc gaagccgagg cccggccgga ccgcgagaaa
     1021 ggcaaaggcg cgggggcgag ccgcgtcacc atcaagcagg agcctcccgg ggaggactcg
     1081 ccggcgccca agaggatgaa gctggattcc cgcggcggcg gcagcggcgg cggcccgggg
     1141 ggcggcgcgg cggcggcggc agccgcgctt ctggggcccg accctgccgc cgcggccgcg
     1201 ctgctgagac ccgacgccgc cctgctcagc tcgctggtgg cgttcggcgg aggcggaggc
     1261 gcgcccttcc cgcagcccgc ggccgccgcg gcccccttct gcctgccctt ctgcttcctc
     1321 tcgccttctg cagctgccgc ctacgtgcag cccttcctgg acaagagcgg cctggagaag
     1381 tatctgtacc cggcggcggc tgccgccccg ttcccgctgc tataccccgg catccccgcc
     1441 ccggcggcag ccgcggcagc cgccgccgcc gctgccgccg ccgccgccgc gttcccctgc
     1501 ctgtcctcgg tgttgtcgcc ccctcccgag aaggcgggcg ccgccgccgc gaccctcctg
     1561 ccgcacgagg tggcgcccct tggggcgccg cacccccagc acccgcacgg ccgcacccac
     1621 ctgcccttcg ccgggccccg cgagccgggg aacccggaga gctctgctca ggaagatccc
     1681 tcgcagccag gaaaggaagc tccctgaatc cttgcgtccc gaaggacgga ggttcaagca
     1741 gagtgagaag ttaaaatacc cttaaggagg ttcaagcaga gtgagaagtt aaaataccct
     1801 taaggtcttt aagggaggaa gtgtaataga tgcacgacag gcataaacaa gaacaacaaa
     1861 acaggtgtta tgtgtacatt cggagttcct gttttgctca tcccgcacca ccccaccctc
     1921 cacacactaa catccctttc ttccccccac cagctgtaaa agatcctatg cgaaagacac
     1981 tggctctttt ttttaatccc ccaaataaat tttgccccct tttaggccat gttccattat
     2041 ctcttaaaat tggaacctaa ttcgagagga agtaagaagg gtctgttctg tggctgagct
     2101 aggtgaaccc cggggtaggg gaaagatgtt aacacctttg acgtctttgg agttgacatg
     2161 gaacagcagg tagttgttat gtagagctag ttctcaaagc tgccctgcct gttttaggag
     2221 gcgttccaca aacagattga ggctctttta gaattgaatt tactcttcag tattttctaa
     2281 tgttcagctt tctaaaaggc atatattttt caaagaagtg aggatgcagt ttctcacgtt
     2341 gcaacctatt ctgaagtggt ttaaatggta tctcttagta acttgcactc gttaaagaaa
     2401 cacggagctg ggccatcgtc agaactaagt cagggaagga gatggatgag aaggccagaa
     2461 tcattcctag tacatttgct aacactttat tgagaaattg accatgaatt aatggactca
     2521 tcttaatttc ttctaagtcc atatatagat agatatctat ctgtacagat ttctatttat
     2581 ccatagatag gtatctatac atacacatct caagtgcatc tattcccact ctcattaatc
     2641 catcatgttc ctaaattttt gtaatcttac tgtaaaaaaa agtgcactga acttcaaaac
     2701 aaaacaaaaa acaacaacaa caaaaaacaa gtccaaactg atatatccta tattctgtta
     2761 aaattcaaaa gtgaacgaaa gcatttaact ggccagtttt gattgcaaat gctgtaaaga
     2821 tatagaatga agtcctgtga ggccttccta tctccaagtc tatgtatttt ctggagacca
     2881 aaccagatac cagataatca caaagaaagc ttttttaata aggcttaaac caagaccttg
     2941 tctagatatt tttagtttgt tgccaaggta gcactgtgag aaatctcact tggatgttat
     3001 gtaaggggtg agacacaaca gtctgactat gagtgaggaa aatatctggg tcttttcgtc
     3061 agtttggtgc atttgctgct gctgttgcta ctgtttgcct caaacgctgt gtttaaacaa
     3121 cgttaaactc ttagcctaca aggtggctct tatgtacata gttgttaata catccaatta
     3181 atgatgtctg acatgctatt tttgtaggga gaaaatatgt gctaatgata ttttgagtta
     3241 aaatatcttt tggggaggat ttgctgaaaa gttgcacttt tgttacaatg cttatgcttg
     3301 gtacaagctt atgctgtctt aaattatttt aaaaaaataa atactgtctg tgagaaacca
     3361 gctggtttag aaaagtttag tatgtgacga taaactagaa attaccttta tattctagta
     3421 ttttcagcac tccataaatt ctattaccta aatattgcca cactattttg tgatttaaaa
     3481 attcttacta aggaataaaa actttaatat acgatatgat attgtctaat aattaaaaaa
     3541 gacataatgg atgctcaatt agttttaaga tatctataac tatagggata caaatcacta
     3601 cagttctcag atttacagct tttttttgtc attggcttga tgtcacacat ttccaatctc
     3661 ttgcaagcct ccaggctctg gctttgtcta cctgctcgtt cccaatgtat cttaatgaaa
     3721 agtgcaaaag aaaaacctac caa
//
