LOCUS       NM_001297719            2787 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens basic helix-loop-helix ARNT like 1 (BMAL1), transcript
            variant 4, mRNA.
ACCESSION   NM_001297719 XM_005252929
VERSION     NM_001297719.2
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 2787)
  AUTHORS   Han,Q., Li,M., Su,D., Fan,H. and Xia,H.
  TITLE     Bmal1 regulates the stemness and tumorigenesis of gliomas with the
            Wnt/beta-catenin signaling pathway
  JOURNAL   Gene 933, 148940 (2025)
   PUBMED   39265843
  REMARK    GeneRIF: Bmal1 regulates the stemness and tumorigenesis of gliomas
            with the Wnt/beta-catenin signaling pathway.
REFERENCE   2  (bases 1 to 2787)
  AUTHORS   Wang,J., Jia,Q., Sun,J., Wu,S., Wei,L. and Yao,W.
  TITLE     Arntl-induced upregulation of DUSP1 inhibits tumor progression in
            esophageal squamous cell carcinoma by inactivating ERK signaling
  JOURNAL   Cancer Biol Ther 25 (1), 2408042 (2024)
   PUBMED   39341782
  REMARK    GeneRIF: Arntl-induced upregulation of DUSP1 inhibits tumor
            progression in esophageal squamous cell carcinoma by inactivating
            ERK signaling.
REFERENCE   3  (bases 1 to 2787)
  AUTHORS   Zeng,T., Liang,L., Deng,W., Xie,M., Zhao,M., Wang,S., Liu,J. and
            Yang,M.
  TITLE     BMAL1 plays a crucial role in immune homeostasis during
            sepsis-induced acute lung injury
  JOURNAL   Biochem Pharmacol 226, 116379 (2024)
   PUBMED   38908531
  REMARK    GeneRIF: BMAL1 plays a crucial role in immune homeostasis during
            sepsis-induced acute lung injury.
REFERENCE   4  (bases 1 to 2787)
  AUTHORS   Zeng,H., Yang,X., Liao,K., Zuo,X., Liang,L., He,D., Ju,R., Wang,B.
            and Yuan,J.
  TITLE     Circadian disruption reduces MUC4 expression via the clock molecule
            BMAL1 during dry eye development
  JOURNAL   Exp Mol Med 56 (7), 1655-1666 (2024)
   PUBMED   38956298
  REMARK    GeneRIF: Circadian disruption reduces MUC4 expression via the clock
            molecule BMAL1 during dry eye development.
REFERENCE   5  (bases 1 to 2787)
  AUTHORS   Otobe,Y., Jeong,E.M., Ito,S., Shinohara,Y., Kurabayashi,N.,
            Aiba,A., Fukada,Y., Kim,J.K. and Yoshitane,H.
  TITLE     Phosphorylation of DNA-binding domains of CLOCK-BMAL1 complex for
            PER-dependent inhibition in circadian clock of mammalian cells
  JOURNAL   Proc Natl Acad Sci U S A 121 (23), e2316858121 (2024)
   PUBMED   38805270
  REMARK    GeneRIF: Phosphorylation of DNA-binding domains of CLOCK-BMAL1
            complex for PER-dependent inhibition in circadian clock of
            mammalian cells.
REFERENCE   6  (bases 1 to 2787)
  AUTHORS   Takahata,S., Sogawa,K., Kobayashi,A., Ema,M., Mimura,J., Ozaki,N.
            and Fujii-Kuriyama,Y.
  TITLE     Transcriptionally active heterodimer formation of an Arnt-like PAS
            protein, Arnt3, with HIF-1a, HLF, and clock
  JOURNAL   Biochem Biophys Res Commun 248 (3), 789-794 (1998)
   PUBMED   9704006
REFERENCE   7  (bases 1 to 2787)
  AUTHORS   Gekakis,N., Staknis,D., Nguyen,H.B., Davis,F.C., Wilsbacher,L.D.,
            King,D.P., Takahashi,J.S. and Weitz,C.J.
  TITLE     Role of the CLOCK protein in the mammalian circadian mechanism
  JOURNAL   Science 280 (5369), 1564-1569 (1998)
   PUBMED   9616112
REFERENCE   8  (bases 1 to 2787)
  AUTHORS   Hogenesch,J.B., Gu,Y.Z., Jain,S. and Bradfield,C.A.
  TITLE     The basic-helix-loop-helix-PAS orphan MOP3 forms transcriptionally
            active complexes with circadian and hypoxia factors
  JOURNAL   Proc Natl Acad Sci U S A 95 (10), 5474-5479 (1998)
   PUBMED   9576906
REFERENCE   9  (bases 1 to 2787)
  AUTHORS   Ikeda,M. and Nomura,M.
  TITLE     cDNA cloning and tissue-specific expression of a novel basic
            helix-loop-helix/PAS protein (BMAL1) and identification of
            alternatively spliced variants with alternative translation
            initiation site usage
  JOURNAL   Biochem Biophys Res Commun 233 (1), 258-264 (1997)
   PUBMED   9144434
REFERENCE   10 (bases 1 to 2787)
  AUTHORS   Hogenesch,J.B., Chan,W.K., Jackiw,V.H., Brown,R.C., Gu,Y.Z.,
            Pray-Grant,M., Perdew,G.H. and Bradfield,C.A.
  TITLE     Characterization of a subset of the basic-helix-loop-helix-PAS
            superfamily that interacts with components of the dioxin signaling
            pathway
  JOURNAL   J Biol Chem 272 (13), 8581-8593 (1997)
   PUBMED   9079689
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BE391243.1, AK315174.1,
            AC016884.10 and AF044288.1.
            
            On May 20, 2020 this sequence version replaced NM_001297719.1.
            
            Summary: The protein encoded by this gene is a basic
            helix-loop-helix protein that forms a heterodimer with CLOCK. This
            heterodimer binds E-box enhancer elements upstream of Period (PER1,
            PER2, PER3) and Cryptochrome (CRY1, CRY2) genes and activates
            transcription of these genes. PER and CRY proteins heterodimerize
            and repress their own transcription by interacting in a feedback
            loop with CLOCK/ARNTL complexes. Defects in this gene have been
            linked to infertility, problems with gluconeogenesis and
            lipogenesis, and altered sleep patterns. The protein regulates
            interferon-stimulated gene expression and is an important factor in
            viral infection, including COVID-19. [provided by RefSeq, Oct
            2021].
            
            Transcript Variant: This variant (4) encodes isoform c. Variants 4,
            5, and 9 all encode the same isoform (c).
            
            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 :: AF044288.1, AK315174.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related    :: involved in immune response or antiviral
                                      activity
            MANE Ensembl match     :: ENST00000403290.6/ ENSP00000384517.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-157               BE391243.1         66-222
            158-1957            AK315174.1         159-1958
            1958-1958           AC016884.10        134741-134741       c
            1959-2277           AK315174.1         1960-2278
            2278-2787           AF044288.1         2251-2760
FEATURES             Location/Qualifiers
     source          1..2787
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.3"
     gene            1..2787
                     /gene="BMAL1"
                     /gene_synonym="ARNTL; ARNTL1; bHLHe5; BMAL1c; JAP3; MOP3;
                     PASD3; TIC"
                     /note="basic helix-loop-helix ARNT like 1"
                     /db_xref="GeneID:406"
                     /db_xref="HGNC:HGNC:701"
                     /db_xref="MIM:602550"
     exon            1..134
                     /gene="BMAL1"
                     /gene_synonym="ARNTL; ARNTL1; bHLHe5; BMAL1c; JAP3; MOP3;
                     PASD3; TIC"
                     /inference="alignment:Splign:2.1.0"
     exon            135..207
                     /gene="BMAL1"
                     /gene_synonym="ARNTL; ARNTL1; bHLHe5; BMAL1c; JAP3; MOP3;
                     PASD3; TIC"
                     /inference="alignment:Splign:2.1.0"
     exon            208..262
                     /gene="BMAL1"
                     /gene_synonym="ARNTL; ARNTL1; bHLHe5; BMAL1c; JAP3; MOP3;
                     PASD3; TIC"
                     /inference="alignment:Splign:2.1.0"
     exon            263..388
                     /gene="BMAL1"
                     /gene_synonym="ARNTL; ARNTL1; bHLHe5; BMAL1c; JAP3; MOP3;
                     PASD3; TIC"
                     /inference="alignment:Splign:2.1.0"
     exon            389..536
                     /gene="BMAL1"
                     /gene_synonym="ARNTL; ARNTL1; bHLHe5; BMAL1c; JAP3; MOP3;
                     PASD3; TIC"
                     /inference="alignment:Splign:2.1.0"
     CDS             397..2277
                     /gene="BMAL1"
                     /gene_synonym="ARNTL; ARNTL1; bHLHe5; BMAL1c; JAP3; MOP3;
                     PASD3; TIC"
                     /note="isoform c is encoded by transcript variant 4; aryl
                     hydrocarbon receptor nuclear translocator-like protein 1;
                     member of PAS superfamily 3; basic helix-loop-helix family
                     member e5; PAS domain containing 3; ARNT-like protein 1,
                     brain and muscle; aryl hydrocarbon receptor nuclear
                     translocator like; bHLH-PAS protein JAP3;
                     basic-helix-loop-helix-PAS orphan MOP3; member of PAS
                     protein 3; brain and muscle ARNT-like 1; PAS
                     domain-containing protein 3; testis tissue sperm-binding
                     protein Li 50e; basic-helix-loop-helix-PAS protein MOP3;
                     class E basic helix-loop-helix protein 5; basic
                     helix-loop-helix ARNT-like protein 1; mutant basic
                     helix-loop-helix ARNT-like protein 1"
                     /codon_start=1
                     /product="basic helix-loop-helix ARNT-like protein 1
                     isoform c"
                     /protein_id="NP_001284648.1"
                     /db_xref="CCDS:CCDS73259.1"
                     /db_xref="GeneID:406"
                     /db_xref="HGNC:HGNC:701"
                     /db_xref="MIM:602550"
                     /translation="MADQRMDISSTISDFMSPGPTDLLSSSLGTSGVDCNRKRKGSST
                     DYQESMDTDKDDPHGRLEYTEHQGRIKNAREAHSQIEKRRRDKMNSFIDELASLVPTC
                     NAMSRKLDKLTVLRMAVQHMKTLRGATNPYTEANYKPTFLSDDELKHLILRAADGFLF
                     VVGCDRGKILFVSESVFKILNYSQNDLIGQSLFDYLHPKDIAKVKEQLSSSDTAPRER
                     LIDAKTGLPVKTDITPGPSRLCSGARRSFFCRMKCNRPSVKVEDKDFPSTCSKKKADR
                     KSFCTIHSTGYLKSWPPTKMGLDEDNEPDNEGCNLSCLVAIGRLHSHVVPQPVNGEIR
                     VKSMEYVSRHAIDGKFVFVDQRATAILAYLPQELLGTSCYEYFHQDDIGHLAECHRQV
                     LQTREKITTNCYKFKIKDGSFITLRSRWFSFMNPWTKEVEYIVSTNTVVLANVLEGGD
                     PTFPQLTASPHSMDSMLPSGEGGPKRTHPTVPGIPGGTRAGAGKIGRMIAEEIMEIHR
                     IRGSSPSSCGSSPLNITSTPPPDASSPGGKKILNGGTPDIPSSGLLSGQAQENPGYPY
                     SDSSSILGENPHIGIDMIDNDQGSSSPSNDEAAMAVIMSLLEADAGLGGPVDFSDLPW
                     PL"
     exon            537..575
                     /gene="BMAL1"
                     /gene_synonym="ARNTL; ARNTL1; bHLHe5; BMAL1c; JAP3; MOP3;
                     PASD3; TIC"
                     /inference="alignment:Splign:2.1.0"
     exon            576..617
                     /gene="BMAL1"
                     /gene_synonym="ARNTL; ARNTL1; bHLHe5; BMAL1c; JAP3; MOP3;
                     PASD3; TIC"
                     /inference="alignment:Splign:2.1.0"
     exon            618..775
                     /gene="BMAL1"
                     /gene_synonym="ARNTL; ARNTL1; bHLHe5; BMAL1c; JAP3; MOP3;
                     PASD3; TIC"
                     /inference="alignment:Splign:2.1.0"
     exon            776..855
                     /gene="BMAL1"
                     /gene_synonym="ARNTL; ARNTL1; bHLHe5; BMAL1c; JAP3; MOP3;
                     PASD3; TIC"
                     /inference="alignment:Splign:2.1.0"
     exon            856..948
                     /gene="BMAL1"
                     /gene_synonym="ARNTL; ARNTL1; bHLHe5; BMAL1c; JAP3; MOP3;
                     PASD3; TIC"
                     /inference="alignment:Splign:2.1.0"
     exon            949..1066
                     /gene="BMAL1"
                     /gene_synonym="ARNTL; ARNTL1; bHLHe5; BMAL1c; JAP3; MOP3;
                     PASD3; TIC"
                     /inference="alignment:Splign:2.1.0"
     exon            1067..1216
                     /gene="BMAL1"
                     /gene_synonym="ARNTL; ARNTL1; bHLHe5; BMAL1c; JAP3; MOP3;
                     PASD3; TIC"
                     /inference="alignment:Splign:2.1.0"
     exon            1217..1463
                     /gene="BMAL1"
                     /gene_synonym="ARNTL; ARNTL1; bHLHe5; BMAL1c; JAP3; MOP3;
                     PASD3; TIC"
                     /inference="alignment:Splign:2.1.0"
     exon            1464..1570
                     /gene="BMAL1"
                     /gene_synonym="ARNTL; ARNTL1; bHLHe5; BMAL1c; JAP3; MOP3;
                     PASD3; TIC"
                     /inference="alignment:Splign:2.1.0"
     exon            1571..1721
                     /gene="BMAL1"
                     /gene_synonym="ARNTL; ARNTL1; bHLHe5; BMAL1c; JAP3; MOP3;
                     PASD3; TIC"
                     /inference="alignment:Splign:2.1.0"
     exon            1722..1810
                     /gene="BMAL1"
                     /gene_synonym="ARNTL; ARNTL1; bHLHe5; BMAL1c; JAP3; MOP3;
                     PASD3; TIC"
                     /inference="alignment:Splign:2.1.0"
     exon            1811..1919
                     /gene="BMAL1"
                     /gene_synonym="ARNTL; ARNTL1; bHLHe5; BMAL1c; JAP3; MOP3;
                     PASD3; TIC"
                     /inference="alignment:Splign:2.1.0"
     exon            1920..2013
                     /gene="BMAL1"
                     /gene_synonym="ARNTL; ARNTL1; bHLHe5; BMAL1c; JAP3; MOP3;
                     PASD3; TIC"
                     /inference="alignment:Splign:2.1.0"
     exon            2014..2116
                     /gene="BMAL1"
                     /gene_synonym="ARNTL; ARNTL1; bHLHe5; BMAL1c; JAP3; MOP3;
                     PASD3; TIC"
                     /inference="alignment:Splign:2.1.0"
     exon            2117..2787
                     /gene="BMAL1"
                     /gene_synonym="ARNTL; ARNTL1; bHLHe5; BMAL1c; JAP3; MOP3;
                     PASD3; TIC"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2762..2767
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BMAL1"
                     /gene_synonym="ARNTL; ARNTL1; bHLHe5; BMAL1c; JAP3; MOP3;
                     PASD3; TIC"
                     /note="hexamer: AATAAA"
     polyA_site      2787
                     /gene="BMAL1"
                     /gene_synonym="ARNTL; ARNTL1; bHLHe5; BMAL1c; JAP3; MOP3;
                     PASD3; TIC"
                     /note="major polyA site"
ORIGIN      
        1 agtggtgcga catttaggga aggcagaaag taggtcaggg acggaggtgc ctgtttaccc
       61 gcgccggact caccgccgcc gccgccgcgg gatccgagtg cgggcgcggg cgcgggcgct
      121 cccggcgagc cacggtggtg ctggctagag tgtatacgtt tggacccaag cttaactttt
      181 ccaatgtgga atcctgggcc ttcattggtt ccgatgtcat aggaatctac gctagagggc
      241 ttcctgtgtg ccgggcactg tggtttttgg aagaagctga ccgcctgaaa agaaattata
      301 aaacatgaaa atcgctttga ggtgaccaag tccagaggcc cctaactcct cccaagctgg
      361 atctggggtg taagaactgt gacttcagat catccaatgg cagaccagag aatggacatt
      421 tcttcaacca tcagtgattt catgtccccg ggccccaccg acctgctttc cagctctctt
      481 ggtaccagtg gtgtggattg caaccgcaaa cggaaaggca gctccactga ctaccaagaa
      541 agcatggaca cagacaaaga tgaccctcat ggaaggttag aatatacaga acaccaagga
      601 aggataaaaa atgcaaggga agctcacagt cagattgaaa agcggcgtcg ggataaaatg
      661 aacagtttta tagatgaatt ggcttctttg gtaccaacat gcaacgcaat gtccaggaaa
      721 ttagataaac ttactgtgct aaggatggct gttcagcaca tgaaaacatt aagaggtgcc
      781 accaatccat acacagaagc aaactacaaa ccaacttttc tatcagacga tgaattgaaa
      841 cacctcattc tcagggcagc agatggattt ttgtttgtcg taggatgtga ccgagggaag
      901 atactctttg tctcagagtc tgtcttcaag atcctcaact acagccagaa tgatctgatt
      961 ggtcagagtt tgtttgacta cctgcatcct aaagatattg ccaaagtcaa ggagcagctc
     1021 tcctcctctg acaccgcacc ccgggagcgg ctcatagatg caaaaactgg acttccagtt
     1081 aaaacagata taacccctgg gccatctcga ttatgttctg gagcacgacg ttctttcttc
     1141 tgtaggatga agtgtaacag gccttcagta aaggttgaag acaaggactt cccctctacc
     1201 tgctcaaaga aaaaagcaga tcgaaaaagc ttctgcacaa tccacagcac aggctatttg
     1261 aaaagctggc cacccacaaa gatggggctg gatgaagaca acgaaccaga caatgagggg
     1321 tgtaacctca gctgcctcgt cgcaattgga cgactgcatt ctcatgtagt tccacaacca
     1381 gtgaacgggg aaatcagggt gaaatctatg gaatatgttt ctcggcacgc gatagatgga
     1441 aagtttgttt ttgtagacca gagggcaaca gctattttgg catatttacc acaagaactt
     1501 ctaggcacat cgtgttatga atattttcac caagatgaca taggacatct tgcagaatgt
     1561 cataggcaag ttttacagac gagagaaaaa attacaacta attgctataa atttaaaatc
     1621 aaagatggtt cttttatcac actacggagt cgatggttca gtttcatgaa cccttggacc
     1681 aaggaagtag aatatattgt ctcaactaac actgttgttt tagccaacgt cctggaaggc
     1741 ggggacccaa ccttcccaca gctcacagca tccccccaca gcatggacag catgctgccc
     1801 tctggagaag gtggcccaaa gaggacccac cccactgttc cagggattcc agggggaacc
     1861 cgggctgggg caggaaaaat aggccgaatg attgctgagg aaatcatgga aatccacagg
     1921 ataagagggt catcgccttc tagctgtggc tccagcccat tgaacatcac gagtacgcct
     1981 ccccctgatg cctcttctcc aggaggcaag aagattttaa atggagggac tccagacatt
     2041 ccttccagtg gcctactatc aggccaggct caggagaacc caggttatcc atattctgat
     2101 agttcttcta ttcttggtga gaacccccac ataggtatag acatgattga caacgaccaa
     2161 ggatcaagta gtcccagtaa tgatgaggca gcaatggctg tcatcatgag cctcttggaa
     2221 gcagatgctg gactgggtgg ccctgttgac tttagtgact tgccatggcc gctgtaaaca
     2281 ctacatgttg ctttggcaac agctatagta tcaaagtgca ttactggtgg agttttacag
     2341 tctgtgaagc ttactggata aggagagaat agcttttatg tactgacttc ataaaagcca
     2401 tctcagagcc attgatacaa gtcaatctta ctatatgtaa cttcagacaa agtggaacta
     2461 agcctgctcc agtgtttcct catcattgat tattgggcta gctgtggata gcttgcatta
     2521 attgtatatt ttggattctg tttgtgttga attttttaat cattgtgcac agaagcatca
     2581 ttggtagctt ttatatgcaa atggtcattt cagatgtatg gtgtttttac actacaaaga
     2641 agtcccccat gtggatattt cttatactaa ttgtatcata aagccgttta ttcttccttg
     2701 taagaatcct ttactataaa tatgggttaa agtataatgt actagacagt taaatatttt
     2761 taataaatgt ttcccttgtt ctataaa
//
