LOCUS       NM_178864               3272 bp    mRNA    linear   PRI 07-FEB-2025
DEFINITION  Homo sapiens neuronal PAS domain protein 4 (NPAS4), transcript
            variant 1, mRNA.
ACCESSION   NM_178864
VERSION     NM_178864.4
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 3272)
  AUTHORS   Selcuk,B., Aksu,T., Dereli,O. and Adebali,O.
  TITLE     Downregulated NPAS4 in multiple brain regions is associated with
            major depressive disorder
  JOURNAL   Sci Rep 13 (1), 21596 (2023)
   PUBMED   38062059
  REMARK    GeneRIF: Downregulated NPAS4 in multiple brain regions is
            associated with major depressive disorder.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3272)
  AUTHORS   Sun,X., Jing,L., Li,F., Zhang,M., Diao,X., Zhuang,J., Rastinejad,F.
            and Wu,D.
  TITLE     Structures of NPAS4-ARNT and NPAS4-ARNT2 heterodimers reveal new
            dimerization modalities in the bHLH-PAS transcription factor family
  JOURNAL   Proc Natl Acad Sci U S A 119 (46), e2208804119 (2022)
   PUBMED   36343253
  REMARK    GeneRIF: Structures of NPAS4-ARNT and NPAS4-ARNT2 heterodimers
            reveal new dimerization modalities in the bHLH-PAS transcription
            factor family.
REFERENCE   3  (bases 1 to 3272)
  AUTHORS   Xiong,H., Wang,H. and Yu,Q.
  TITLE     Circular RNA circ_0003420 mediates inflammation in sepsis-induced
            liver damage by downregulating neuronal PAS domain protein 4
  JOURNAL   Immunopharmacol Immunotoxicol 43 (3), 271-282 (2021)
   PUBMED   33719821
  REMARK    GeneRIF: Circular RNA circ_0003420 mediates inflammation in
            sepsis-induced liver damage by downregulating neuronal PAS domain
            protein 4.
            Erratum:[Immunopharmacol Immunotoxicol. 2021 Oct;43(5):I. doi:
            10.1080/08923973.2021.1975024.. PMID: 34468267]
REFERENCE   4  (bases 1 to 3272)
  AUTHORS   Rossi,J.J., Rosenfeld,J.A., Chan,K.M., Streff,H., Nankivell,V.,
            Peet,D.J., Whitelaw,M.L. and Bersten,D.C.
  TITLE     Molecular characterisation of rare loss-of-function NPAS3 and NPAS4
            variants identified in individuals with neurodevelopmental
            disorders
  JOURNAL   Sci Rep 11 (1), 6602 (2021)
   PUBMED   33758288
  REMARK    GeneRIF: Molecular characterisation of rare loss-of-function NPAS3
            and NPAS4 variants identified in individuals with
            neurodevelopmental disorders.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3272)
  AUTHORS   Esser,J.S., Charlet,A., Schmidt,M., Heck,S., Allen,A., Lother,A.,
            Epting,D., Patterson,C., Bode,C. and Moser,M.
  TITLE     The neuronal transcription factor NPAS4 is a strong inducer of
            sprouting angiogenesis and tip cell formation
  JOURNAL   Cardiovasc Res 113 (2), 222-223 (2017)
   PUBMED   28082451
  REMARK    GeneRIF: NPAS4 is expressed in endothelial cells, regulates
            VE-cadherin expression and regulates sprouting angiogenesis.
REFERENCE   6  (bases 1 to 3272)
  AUTHORS   Choy,F.C., Klaric,T.S., Koblar,S.A. and Lewis,M.D.
  TITLE     The Role of the Neuroprotective Factor Npas4 in Cerebral Ischemia
  JOURNAL   Int J Mol Sci 16 (12), 29011-29028 (2015)
   PUBMED   26690124
  REMARK    GeneRIF: This review summarizes the current knowledge of the roles
            that Npas4 may play in neuroinflammation and ischemia.  [review]
            Review article
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 3272)
  AUTHORS   Klaric,T.S., Thomas,P.Q., Dottori,M., Leong,W.K., Koblar,S.A. and
            Lewis,M.D.
  TITLE     A reduction in Npas4 expression results in delayed neural
            differentiation of mouse embryonic stem cells
  JOURNAL   Stem Cell Res Ther 5 (3), 64 (2014)
   PUBMED   24887558
  REMARK    GeneRIF: we provide the first evidence that Npas4 is expressed
            during embryonic development and that it may have a developmental
            role that is unrelated to its function in the adult brain
            Publication Status: Online-Only
REFERENCE   8  (bases 1 to 3272)
  AUTHORS   Bersten,D.C., Bruning,J.B., Peet,D.J. and Whitelaw,M.L.
  TITLE     Human variants in the neuronal basic helix-loop-helix/Per-Arnt-Sim
            (bHLH/PAS) transcription factor complex NPAS4/ARNT2 disrupt
            function
  JOURNAL   PLoS One 9 (1), e85768 (2014)
   PUBMED   24465693
  REMARK    GeneRIF: These results provide insight into the mechanisms of
            NPAS4/ARNT dimerisation and transcriptional activation.
            Publication Status: Online-Only
REFERENCE   9  (bases 1 to 3272)
  CONSRTM   Psychiatric GWAS Consortium Bipolar Disorder Working Group
  TITLE     Large-scale genome-wide association analysis of bipolar disorder
            identifies a new susceptibility locus near ODZ4
  JOURNAL   Nat Genet 43 (10), 977-983 (2011)
   PUBMED   21926972
  REMARK    Erratum:[Nat Genet. 2012 Sep;44(9):1072. Fullerton, Janice M
            [added]; Hyoun, Phil L [corrected to Lee, Phil H]; Meng, Fan Guo
            [corrected to Meng, Fan]]
            Publication Status: Online-Only
REFERENCE   10 (bases 1 to 3272)
  AUTHORS   Ooe,N., Saito,K., Mikami,N., Nakatuka,I. and Kaneko,H.
  TITLE     Identification of a novel basic helix-loop-helix-PAS factor, NXF,
            reveals a Sim2 competitive, positive regulatory role in
            dendritic-cytoskeleton modulator drebrin gene expression
  JOURNAL   Mol Cell Biol 24 (2), 608-616 (2004)
   PUBMED   14701734
  REMARK    GeneRIF: a novel NXF signaling system on neural gene promoter may
            be a molecular target of the adverse effects of Sim2 in the mental
            retardation of Down's syndrome
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK096253.1, AB049469.1 and AP001107.5.
            
            On Nov 23, 2018 this sequence version replaced NM_178864.3.
            
            Summary: NXF is a member of the basic helix-loop-helix-PER (MIM
            602260)-ARNT (MIM 126110)-SIM (see SIM2; MIM 600892) (bHLH-PAS)
            class of transcriptional regulators, which are involved in a wide
            range of physiologic and developmental events (Ooe et al., 2004
            [PubMed 14701734]).[supplied by OMIM, Mar 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB049469.1, AK096253.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2156670
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000311034.7/ ENSP00000311196.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-359               AK096253.1         32-390
            360-3082            AB049469.1         316-3038
            3083-3271           AK096253.1         3114-3302
            3272-3272           AP001107.5         166963-166963
FEATURES             Location/Qualifiers
     source          1..3272
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.2"
     gene            1..3272
                     /gene="NPAS4"
                     /gene_synonym="bHLHe79; Le-PAS; NXF; PASD10"
                     /note="neuronal PAS domain protein 4"
                     /db_xref="GeneID:266743"
                     /db_xref="HGNC:HGNC:18983"
                     /db_xref="MIM:608554"
     exon            1..320
                     /gene="NPAS4"
                     /gene_synonym="bHLHe79; Le-PAS; NXF; PASD10"
                     /inference="alignment:Splign:2.1.0"
     CDS             146..2554
                     /gene="NPAS4"
                     /gene_synonym="bHLHe79; Le-PAS; NXF; PASD10"
                     /note="isoform 1 is encoded by transcript variant 1;
                     neuronal PAS domain-containing protein 4; HLH-PAS
                     transcription factor NXF; neuronal PAS4; PAS
                     domain-containing protein 10; class E basic
                     helix-loop-helix protein 79"
                     /codon_start=1
                     /product="neuronal PAS domain-containing protein 4 isoform
                     1"
                     /protein_id="NP_849195.2"
                     /db_xref="CCDS:CCDS8138.1"
                     /db_xref="GeneID:266743"
                     /db_xref="HGNC:HGNC:18983"
                     /db_xref="MIM:608554"
                     /translation="MYRSTKGASKARRDQINAEIRNLKELLPLAEADKVRLSYLHIMS
                     LACIYTRKGVFFAGGTPLAGPTGLLSAQELEDIVAALPGFLLVFTAEGKLLYLSESVS
                     EHLGHSMVDLVAQGDSIYDIIDPADHLTVRQQLTLPSALDTDRLFRCRFNTSKSLRRQ
                     SAGNKLVLIRGRFHAHPPGAYWAGNPVFTAFCAPLEPRPRPGPGPGPGPASLFLAMFQ
                     SRHAKDLALLDISESVLIYLGFERSELLCKSWYGLLHPEDLAHASAQHYRLLAESGDI
                     QAEMVVRLQAKTGGWAWIYCLLYSEGPEGPITANNYPISDMEAWSLRQQLNSEDTQAA
                     YVLGTPTMLPSFPENILSQEECSSTNPLFTAALGAPRSTSFPSAPELSVVSASEELPR
                     PSKELDFSYLTFPSGPEPSLQAELSKDLVCTPPYTPHQPGGCAFLFSLHEPFQTHLPT
                     PSSTLQEQLTPSTATFSDQLTPSSATFPDPLTSPLQGQLTETSVRSYEDQLTPCTSTF
                     PDQLLPSTATFPEPLGSPAHEQLTPPSTAFQAHLDSPSQTFPEQLSPNPTKTYFAQEG
                     CSFLYEKLPPSPSSPGNGDCTLLALAQLRGPLSVDVPLVPEGLLTPEASPVKQSFFHY
                     SEKEQNEIDRLIQQISQLAQGMDRPFSAEAGTGGLEPLGGLEPLDSNLSLSGAGPPVL
                     SLDLKPWKCQELDFLADPDNMFLEETPVEDIFMDLSTPDPSEEWGSGDPEAEGPGGAP
                     SPCNNLSPEDHSFLEDLATYETAFETGVSAFPYDGFTDELHQLQSQVQDSFHEDGSGG
                     EPTF"
     exon            321..472
                     /gene="NPAS4"
                     /gene_synonym="bHLHe79; Le-PAS; NXF; PASD10"
                     /inference="alignment:Splign:2.1.0"
     exon            473..575
                     /gene="NPAS4"
                     /gene_synonym="bHLHe79; Le-PAS; NXF; PASD10"
                     /inference="alignment:Splign:2.1.0"
     exon            576..843
                     /gene="NPAS4"
                     /gene_synonym="bHLHe79; Le-PAS; NXF; PASD10"
                     /inference="alignment:Splign:2.1.0"
     exon            844..953
                     /gene="NPAS4"
                     /gene_synonym="bHLHe79; Le-PAS; NXF; PASD10"
                     /inference="alignment:Splign:2.1.0"
     exon            954..1089
                     /gene="NPAS4"
                     /gene_synonym="bHLHe79; Le-PAS; NXF; PASD10"
                     /inference="alignment:Splign:2.1.0"
     exon            1090..2525
                     /gene="NPAS4"
                     /gene_synonym="bHLHe79; Le-PAS; NXF; PASD10"
                     /inference="alignment:Splign:2.1.0"
     exon            2526..3272
                     /gene="NPAS4"
                     /gene_synonym="bHLHe79; Le-PAS; NXF; PASD10"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3246..3251
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NPAS4"
                     /gene_synonym="bHLHe79; Le-PAS; NXF; PASD10"
                     /note="hexamer: AATAAA"
     polyA_site      3272
                     /gene="NPAS4"
                     /gene_synonym="bHLHe79; Le-PAS; NXF; PASD10"
                     /note="major polyA site"
ORIGIN      
        1 gggcagcgca gccgagcgga gcccaggaga gcagagagcg agcctgagcg agagacgggg
       61 aagcacggag gaggaagccg ccggtgcgtc gggacgggag cgcaggtgct cgggcacccg
      121 agctggagct ccgcagccgc cggtcatgta ccgctccacc aagggcgcct ccaaggcgcg
      181 ccgggaccag atcaacgccg agatccggaa cctcaaggag ctgctgccgc tggccgaagc
      241 ggacaaggtc cggctgtcct acctgcacat catgagcctc gcctgcatct acactcgcaa
      301 gggcgtcttc ttcgctggtg gcactcctct ggcgggcccc acggggcttc tctcagctca
      361 agagcttgag gacatcgtag cggcactacc cggctttctg cttgtgttca cagccgaggg
      421 gaaattgctc tacctgtctg agagtgtgag cgagcatctg ggccactcca tggtggacct
      481 ggttgcccag ggtgacagca tctacgacat cattgaccca gctgaccacc tcactgtgcg
      541 ccagcaactc accctgccct ctgccctgga cactgatcgc ctcttccgct gccgcttcaa
      601 cacctccaag tccctcaggc gccagagtgc aggcaacaaa ctcgtgctta ttcgaggccg
      661 attccatgct cacccacctg gagcctactg ggcaggaaat cccgtgttca cagctttctg
      721 tgcccctctg gagccgagac cccgcccagg tcctggccct ggccctggcc ctgcctcgct
      781 cttcctggcc atgttccaga gccgccatgc taaagacctg gctctactgg acatctccga
      841 gagtgtccta atctacctgg gctttgagcg cagtgaactg ctttgtaaat catggtatgg
      901 actgctgcac cccgaggacc tggcccacgc ttctgctcaa cactaccgcc tgttggctga
      961 gagtggagat attcaggcag agatggtggt gaggctacag gccaagactg gaggctgggc
     1021 atggatttac tgcctgttat actcagaagg tccagaggga cccattactg ccaataacta
     1081 cccaatcagt gacatggaag cctggagcct ccgccagcag ttgaactctg aagacaccca
     1141 ggcagcttat gtcctgggca ctccgaccat gctgccctca ttccctgaaa acattctttc
     1201 ccaggaagag tgctccagca ctaacccact cttcaccgca gcactggggg ctcccagaag
     1261 caccagcttc cccagtgctc ctgaactgag tgttgtctct gcatcagaag agcttccccg
     1321 accctccaaa gaactggact tcagttacct gacattccct tctgggcctg agccttctct
     1381 ccaagcagaa ctaagcaagg atcttgtgtg cactccacct tacacgcccc atcagccagg
     1441 aggctgtgcc ttcctcttca gcctccatga gcccttccag acccatttgc ccaccccatc
     1501 cagcactctt caagaacagc tgactccaag cactgcgacc ttctctgatc agttgacgcc
     1561 cagcagtgca accttcccag atccactaac tagcccactg caaggccagt tgactgaaac
     1621 ctcggtcaga agctatgaag accagttgac tccctgcacc tccaccttcc cagaccagct
     1681 gcttcccagc acagccacct tcccagagcc tctgggcagc cctgcccatg aacagctgac
     1741 tcctcccagc acagcattcc aagcacacct ggacagcccc agccaaacct tcccagagca
     1801 actgagcccc aaccctacca agacttactt tgcccaggag ggatgcagtt ttctctatga
     1861 gaagttgccc ccaagtccta gcagccctgg taatggggac tgcacgctct tggccctagc
     1921 ccagctccgg ggccccctct ctgtggatgt ccccctggtg cccgaaggcc tgctcacacc
     1981 tgaggcctct ccagtcaagc agagtttctt ccactactct gaaaaggagc agaatgagat
     2041 agaccgtctc atccagcaga ttagccaatt ggctcagggc atggacagac ccttctcagc
     2101 tgaggctggc actggcggac tagagccact tggaggactg gagcccctgg actccaacct
     2161 gtccctgtca ggggcaggcc cccctgtgct cagcctggac ctgaaaccct ggaaatgcca
     2221 ggagctggac ttcctggctg accctgataa catgttcctg gaagagacgc ccgtggaaga
     2281 catcttcatg gatctctcta ccccagatcc cagtgaggaa tggggctcag gggatcctga
     2341 ggcagagggc ccaggagggg ccccatcgcc ttgcaacaac ctgtccccag aagaccacag
     2401 cttcctggag gacctggcca catatgaaac cgcctttgag acaggtgtct cagcattccc
     2461 ctatgatggg tttactgatg agttgcatca actccagagc caagttcaag acagcttcca
     2521 tgaagatgga agtggagggg aaccaacgtt ttgaataagt ctgtgactta acgtcgtcaa
     2581 gtatggcata ttgtcatcaa gacgtggagc cgctctccac ccccccggga ctgttggggg
     2641 gattctgagg gccagagggg gatatatatg attccccagg ccctgcagga ttttgggggg
     2701 ggggaggtgg gagggcaagg gaggggagct tctttttaaa atcaagagac ttcgagcgat
     2761 cccagtttcc atttcaatct gtattcactc gtagtgagtt tccttgaatg ggatttcaag
     2821 cggagaatgg gggagtctca cttccccgcc gccttgcccc attggcctgg gccagttctc
     2881 cactcctagg ggccaagcca cccctagcct tggtggggga aaggcagggc ccacccgggc
     2941 cagcccgtgc cctgaggggc tcttgacacc cacgtagaat tctctacaca ccagtaacgg
     3001 gatttcaatt ccgatggact ctgccgccct ggcggccctt cctgtgactt ttgcgccccg
     3061 cgcctggggt ggggggtgcg aagagacgct acgttccttt ccgatggagg aaggcagacc
     3121 tgccgtcaca cgtgtgcttg cacgagtgcg tgtacctggt gcgggactca cccggccgcc
     3181 agactgcctg ggcctgccca gatggccacc tcgtggtgct gcggtgactt tgtagccaac
     3241 tttataataa agtccagttt gcctttttgg ta
//
