LOCUS       NM_002517               2100 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens neuronal PAS domain protein 1 (NPAS1), transcript
            variant 1, mRNA.
ACCESSION   NM_002517 XM_011526998
VERSION     NM_002517.4
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 2100)
  AUTHORS   Michaelson,J.J., Shin,M.K., Koh,J.Y., Brueggeman,L., Zhang,A.,
            Katzman,A., McDaniel,L., Fang,M., Pufall,M. and Pieper,A.A.
  TITLE     Neuronal PAS Domain Proteins 1 and 3 Are Master Regulators of
            Neuropsychiatric Risk Genes
  JOURNAL   Biol Psychiatry 82 (3), 213-223 (2017)
   PUBMED   28499489
  REMARK    GeneRIF: Study provides a clear, unbiased view of the full spectrum
            of genes regulated by NPAS1 and NPAS3 and shows that these
            transcription factors are master regulators of neuropsychiatric
            function. These findings expose the molecular pathophysiology of
            NPAS1/3 mutations and provide a striking example of the shared,
            combinatorial nature of molecular pathways that underlie
            diagnostically distinct neuropsychiatric conditions.
REFERENCE   2  (bases 1 to 2100)
  AUTHORS   Wu,D., Su,X., Potluri,N., Kim,Y. and Rastinejad,F.
  TITLE     NPAS1-ARNT and NPAS3-ARNT crystal structures implicate the bHLH-PAS
            family as multi-ligand binding transcription factors
  JOURNAL   Elife 5, e18790 (2016)
   PUBMED   27782878
  REMARK    GeneRIF: Here the authors examined the crystal structures of
            multi-domain NPAS1-ARNT and NPAS3-ARNT-DNA complexes, discovering
            each to contain four putative ligand-binding pockets.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2100)
  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   4  (bases 1 to 2100)
  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
REFERENCE   5  (bases 1 to 2100)
  AUTHORS   Zhou,Y.D., Barnard,M., Tian,H., Li,X., Ring,H.Z., Francke,U.,
            Shelton,J., Richardson,J., Russell,D.W. and McKnight,S.L.
  TITLE     Molecular characterization of two mammalian bHLH-PAS domain
            proteins selectively expressed in the central nervous system
  JOURNAL   Proc Natl Acad Sci U S A 94 (2), 713-718 (1997)
   PUBMED   9012850
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC008755.8, BC039016.1 and
            CA420408.1.
            
            On May 17, 2019 this sequence version replaced NM_002517.3.
            
            Summary: The protein encoded by this gene is a member of the basic
            helix-loop-helix (bHLH)-PAS family of transcription factors.
            Studies of a related mouse gene suggest that it functions in
            neurons. The exact function of this gene is unclear, but it may
            play protective or modulatory roles during late embryogenesis and
            postnatal development. [provided by RefSeq, Jul 2008].
            
            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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC039016.1, SRR14038191.797151.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2154665 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000602212.6/ ENSP00000469142.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-7                 AC008755.8         46668-46674
            8-508               BC039016.1         1-501
            509-509             AC008755.8         48626-48626
            510-1832            BC039016.1         503-1825
            1833-2100           CA420408.1         19-286              c
FEATURES             Location/Qualifiers
     source          1..2100
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.32"
     gene            1..2100
                     /gene="NPAS1"
                     /gene_synonym="bHLHe11; MOP5; PASD5"
                     /note="neuronal PAS domain protein 1"
                     /db_xref="GeneID:4861"
                     /db_xref="HGNC:HGNC:7894"
                     /db_xref="MIM:603346"
     exon            1..161
                     /gene="NPAS1"
                     /gene_synonym="bHLHe11; MOP5; PASD5"
                     /inference="alignment:Splign:2.1.0"
     exon            162..325
                     /gene="NPAS1"
                     /gene_synonym="bHLHe11; MOP5; PASD5"
                     /inference="alignment:Splign:2.1.0"
     CDS             204..1976
                     /gene="NPAS1"
                     /gene_synonym="bHLHe11; MOP5; PASD5"
                     /note="isoform 1 is encoded by transcript variant 1;
                     neuronal PAS1; member of PAS superfamily 5; neuronal PAS
                     domain-containing protein 1; member of PAS protein 5; PAS
                     domain-containing protein 5; basic-helix-loop-helix-PAS
                     protein MOP5; class E basic helix-loop-helix protein 11"
                     /codon_start=1
                     /product="neuronal PAS domain-containing protein 1 isoform
                     1"
                     /protein_id="NP_002508.2"
                     /db_xref="CCDS:CCDS12694.1"
                     /db_xref="GeneID:4861"
                     /db_xref="HGNC:HGNC:7894"
                     /db_xref="MIM:603346"
                     /translation="MAAPYPGSGGGSEVKCVGGRGASVPWDFLPGLMVKAPSGPCLQA
                     QRKEKSRNAARSRRGKENLEFFELAKLLPLPGAISSQLDKASIVRLSVTYLRLRRFAA
                     LGAPPWGLRAAGPPAGLAPGRRGPAALVSEVFEQHLGGHILQSLDGFVFALNQEGKFL
                     YISETVSIYLGLSQVEMTGSSVFDYIHPGDHSEVLEQLGLRTPTPGPPTPPSVSSSSS
                     SSSSLADTPEIEASLTKVPPSSLVQERSFFVRMKSTLTKRGLHVKASGYKVIHVTGRL
                     RAHALGLVALGHTLPPAPLAELPLHGHMIVFRLSLGLTILACESRVSDHMDLGPSELV
                     GRSCYQFVHGQDATRIRQSHVDLLDKGQVMTGYYRWLQRAGGFVWLQSVATVAGSGKS
                     PGEHHVLWVSHVLSQAEGGQTPLDAFQLPASVACEEASSPGPEPTEPEPPTEGKQAAP
                     AENEAPQTQGKRIKVEPGPRETKGSEDSGDEDPSSHPATPRPEFTSVIRAGVLKQDPV
                     RPWGLAPPGDPPPTLLHAGFLPPVVRGLCTPGTIRYGPAELGLVYPHLQRLGPGPALP
                     EAFYPPLGLPYPGPAGTRLPRKGD"
     exon            326..561
                     /gene="NPAS1"
                     /gene_synonym="bHLHe11; MOP5; PASD5"
                     /inference="alignment:Splign:2.1.0"
     exon            562..635
                     /gene="NPAS1"
                     /gene_synonym="bHLHe11; MOP5; PASD5"
                     /inference="alignment:Splign:2.1.0"
     exon            636..725
                     /gene="NPAS1"
                     /gene_synonym="bHLHe11; MOP5; PASD5"
                     /inference="alignment:Splign:2.1.0"
     exon            726..891
                     /gene="NPAS1"
                     /gene_synonym="bHLHe11; MOP5; PASD5"
                     /inference="alignment:Splign:2.1.0"
     exon            892..1007
                     /gene="NPAS1"
                     /gene_synonym="bHLHe11; MOP5; PASD5"
                     /inference="alignment:Splign:2.1.0"
     exon            1008..1165
                     /gene="NPAS1"
                     /gene_synonym="bHLHe11; MOP5; PASD5"
                     /inference="alignment:Splign:2.1.0"
     exon            1166..1272
                     /gene="NPAS1"
                     /gene_synonym="bHLHe11; MOP5; PASD5"
                     /inference="alignment:Splign:2.1.0"
     exon            1273..1420
                     /gene="NPAS1"
                     /gene_synonym="bHLHe11; MOP5; PASD5"
                     /inference="alignment:Splign:2.1.0"
     exon            1421..1515
                     /gene="NPAS1"
                     /gene_synonym="bHLHe11; MOP5; PASD5"
                     /inference="alignment:Splign:2.1.0"
     exon            1516..2100
                     /gene="NPAS1"
                     /gene_synonym="bHLHe11; MOP5; PASD5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2062..2067
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NPAS1"
                     /gene_synonym="bHLHe11; MOP5; PASD5"
                     /note="hexamer: ATTAAA"
     polyA_site      2084
                     /gene="NPAS1"
                     /gene_synonym="bHLHe11; MOP5; PASD5"
                     /note="major polyA site"
ORIGIN      
        1 gccgaggtgg gcgccgagag ctgggcgcca cagcccgcgc gtcccgctgc gccccgcgcg
       61 ccccggggtc tatggagctg cccctccgcg ccgcccggcc ggccccacgc cgcgcccgga
      121 gcctgctctg cggccaagta atcggactgg cggtcctgcg ggagactcgg ggctcggagc
      181 ccgcctgagc gagccccccg gagatggcgg ccccctatcc cggcagtggc ggcggaagcg
      241 aggtcaaatg cgtgggaggc cgcggcgcca gcgtcccctg ggactttcta cccgggctga
      301 tggtcaaggc gccgtccgga ccgtgcctgc aggcgcagcg caaggagaag tcccggaacg
      361 cggcgcgctc gcggcgcggg aaggagaacc tggagttctt cgagctggcc aagcttctcc
      421 cgctgcccgg cgccatctcc agccagctgg acaaggcttc catcgtgcgc ctcagcgtca
      481 cctacctccg cctgcgccgg ttcgccgcgc tgggggcgcc gccctggggg ctgagagccg
      541 cggggccgcc agctggcctc gccccaggcc gccgcggccc cgcagcgctg gtctccgaag
      601 tcttcgagca gcacctggga ggtcacatct tgcagtccct ggatggcttt gtgttcgcct
      661 tgaaccagga aggaaaattc ctctacatct cagagacagt ctccatctat ctgggtctct
      721 cacaggtgga gatgacgggc agcagcgtct tcgactacat tcaccctggg gaccactcag
      781 aggtgctgga gcaactgggg ctgcggacgc cgacgcccgg ccccccaacc ccgccctccg
      841 tctcctcttc ctcctcctct tcctcttcgc ttgcagatac ccccgagatc gaggccagcc
      901 tcaccaaggt gcccccctcc tccctggtcc aggagcgctc cttctttgtc cgcatgaaat
      961 ccacgctcac caagaggggg ctgcacgtca aggcctcagg gtacaaggtc atccacgtga
     1021 ctgggcgcct tcgggcccac gccctgggcc ttgtggccct cgggcacacg ttgcccccgg
     1081 cccccctggc tgagctgcca ctccatggac acatgatcgt cttccgtctc agcctgggtc
     1141 tcaccatcct tgcttgtgag agcagagtca gcgaccacat ggacctgggg ccctcagagc
     1201 tggtgggccg cagctgctac cagtttgtcc acggacagga cgccacgagg atccgccaga
     1261 gccacgtgga cttgctggac aagggtcagg tgatgactgg ttactaccgt tggctgcagc
     1321 gtgccggggg cttcgtgtgg ctgcagtctg tggccacagt ggctgggagc gggaagagcc
     1381 ccggggagca ccatgtgctt tgggtcagcc acgtgctcag ccaagccgag ggtggccaaa
     1441 ctcctttgga tgccttccag cttccagcca gcgtggcctg tgaggaggca tccagcccgg
     1501 ggccagagcc cacagagccg gagcctccga cggaagggaa gcaggctgcc ccagcggaga
     1561 acgaggcccc ccagacccag ggcaaacgca tcaaagtgga gcccggcccg agggaaacca
     1621 aaggctccga ggacagtggc gacgaggatc cctccagcca cccggccaca ccgaggcccg
     1681 agttcacctc tgtcatccgg gcaggggtcc tgaagcagga tccggtgcgg ccatggggcc
     1741 tggcgcctcc cggggacccc ccgcccaccc tcctgcacgc gggcttcctg ccgccggtgg
     1801 tgcggggcct gtgcacaccc ggcaccatcc gctacggccc cgcggagctg ggcctggtgt
     1861 acccgcacct gcagaggctg ggtccgggcc ccgcgctccc ggaggccttt tacccgcccc
     1921 tgggcctgcc ctacccgggg cccgcgggca ccaggctgcc gcggaagggg gactgaggac
     1981 tggcagagct gccggcgccg gaccctgcga caaccggggt cccccaggac agtaggcccg
     2041 gctctgcccg tagccctgag aattaaacgc cggctctccc tgcagtggtt tgggctccgg
//
