LOCUS       NP_001158221             933 aa            linear   PRI 29-APR-2025
DEFINITION  neuronal PAS domain-containing protein 3 isoform 1 [Homo sapiens].
ACCESSION   NP_001158221
VERSION     NP_001158221.1
DBSOURCE    REFSEQ: accession NM_001164749.2
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  (residues 1 to 933)
  AUTHORS   Pavesic Radonja,A., Blazevic Zelic,S., Rubesa,G. and Bradshaw,N.J.
  TITLE     SYMPTOM SEVERITY IN SCHIZOPHRENIA PATIENTS WITH NPAS3, DYSBINDIN-1
            AND/OR TRIOBP PROTEIN PATHOLOGY IN THEIR BLOOD SERUM: A PANSS-BASED
            FOLLOW UP STUDY
  JOURNAL   Psychiatr Danub 35 (2), 180-186 (2023)
   PUBMED   37480305
  REMARK    GeneRIF: SYMPTOM SEVERITY IN SCHIZOPHRENIA PATIENTS WITH NPAS3,
            DYSBINDIN-1 AND/OR TRIOBP PROTEIN PATHOLOGY IN THEIR BLOOD SERUM: A
            PANSS-BASED FOLLOW UP STUDY.
REFERENCE   2  (residues 1 to 933)
  AUTHORS   Li,Y., Fan,T., Li,X., Liu,L., Mao,F., Li,Y., Miao,Z., Zeng,C.,
            Song,W., Pan,J., Zhou,S., Wang,H., Wang,Y. and Sun,Z.S.
  TITLE     Npas3 deficiency impairs cortical astrogenesis and induces
            autistic-like behaviors
  JOURNAL   Cell Rep 40 (9), 111289 (2022)
   PUBMED   36044858
  REMARK    GeneRIF: Npas3 deficiency impairs cortical astrogenesis and induces
            autistic-like behaviors.
            Erratum:[Cell Rep. 2022 Nov 8;41(6):111551. doi:
            10.1016/j.celrep.2022.111551. PMID: 36351396]
REFERENCE   3  (residues 1 to 933)
  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   4  (residues 1 to 933)
  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  (residues 1 to 933)
  AUTHORS   Luoma,L.M. and Berry,F.B.
  TITLE     Molecular analysis of NPAS3 functional domains and variants
  JOURNAL   BMC Mol Biol 19 (1), 14 (2018)
   PUBMED   30509165
  REMARK    GeneRIF: NPAS3 is a true transcription factor capable of regulating
            expression of target genes through their promoters by directly
            cooperating with ARNT.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 933)
  AUTHORS   Pickard,B.S., Christoforou,A., Thomson,P.A., Fawkes,A., Evans,K.L.,
            Morris,S.W., Porteous,D.J., Blackwood,D.H. and Muir,W.J.
  TITLE     Interacting haplotypes at the NPAS3 locus alter risk of
            schizophrenia and bipolar disorder
  JOURNAL   Mol Psychiatry 14 (9), 874-884 (2009)
   PUBMED   18317462
  REMARK    GeneRIF: This study demonstrated that these risk and protective
            effects act combinatorially, potentially multiplicatively, to
            determine NPAS3 gene-wide susceptibility in bipolar disorder and
            schizophrenia.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 933)
  AUTHORS   Uhl,G.R., Liu,Q.R., Drgon,T., Johnson,C., Walther,D., Rose,J.E.,
            David,S.P., Niaura,R. and Lerman,C.
  TITLE     Molecular genetics of successful smoking cessation: convergent
            genome-wide association study results
  JOURNAL   Arch Gen Psychiatry 65 (6), 683-693 (2008)
   PUBMED   18519826
  REMARK    GeneRIF: Clinical trial and genome-wide association study of
            gene-disease association, gene-environment interaction, and
            pharmacogenomic / toxicogenomic. (HuGE Navigator)
REFERENCE   8  (residues 1 to 933)
  AUTHORS   Pickard,B.S., Pieper,A.A., Porteous,D.J., Blackwood,D.H. and
            Muir,W.J.
  TITLE     The NPAS3 gene--emerging evidence for a role in psychiatric illness
  JOURNAL   Ann Med 38 (6), 439-448 (2006)
   PUBMED   17008307
  REMARK    Review article
REFERENCE   9  (residues 1 to 933)
  AUTHORS   Kamnasaran,D., Chen,C.P., Devriendt,K., Mehta,L. and Cox,D.W.
  TITLE     Defining a holoprosencephaly locus on human chromosome 14q13 and
            characterization of potential candidate genes
  JOURNAL   Genomics 85 (5), 608-621 (2005)
   PUBMED   15820313
REFERENCE   10 (residues 1 to 933)
  AUTHORS   Kamnasaran,D., Muir,W.J., Ferguson-Smith,M.A. and Cox,D.W.
  TITLE     Disruption of the neuronal PAS3 gene in a family affected with
            schizophrenia
  JOURNAL   J Med Genet 40 (5), 325-332 (2003)
   PUBMED   12746393
  REMARK    GeneRIF: haploinsufficiency of NPAS3 contributes to the cause of
            schizophrenia
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL109769.5, AY157302.1,
            AB055962.1, AL157689.3 and AI811363.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a member of the basic helix-loop-helix
            and PAS domain-containing family of transcription factors. The
            encoded protein is localized to the nucleus and may regulate genes
            involved in neurogenesis. Chromosomal abnormalities that affect the
            coding potential of this gene are associated with schizophrenia and
            cognitive disability. Alternate splicing results in multiple
            transcript variants. [provided by RefSeq, Sep 2009].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            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.
            
            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 :: AB055962.1, KJ534894.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMN03465402
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000356141.9/ ENSP00000348460.4
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..933
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q13.1"
     Protein         1..933
                     /product="neuronal PAS domain-containing protein 3 isoform
                     1"
                     /note="neuronal PAS domain-containing protein 3; member of
                     PAS protein 6; neuronal PAS3; PAS domain-containing
                     protein 6; basic-helix-loop-helix-PAS protein MOP6; class
                     E basic helix-loop-helix protein 12"
                     /calculated_mol_wt=100675
     Region          1..24
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IXF0.1)"
     Region          48..124
                     /region_name="bHLH-PAS_NPAS3_PASD6"
                     /note="basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS)
                     domain found in neuronal PAS domain-containing protein 3
                     (NPAS3) and similar proteins; cd19732"
                     /db_xref="CDD:381575"
     Site            order(53,55..57,61,63..64,68,89..90)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:381575"
     Region          53..64
                     /region_name="DNA-binding.
                     /evidence=ECO:0000250|UniProtKB:Q9QZQ0"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IXF0.1)"
     Site            order(63,66..67,70,73..74,77,79..80,91,94..96,98,100..104)
                     /site_type="other"
                     /note="dimer interface [polypeptide binding]"
                     /db_xref="CDD:381575"
     Region          152..210
                     /region_name="PAS"
                     /note="PAS domain; smart00091"
                     /db_xref="CDD:214512"
     Region          154..>413
                     /region_name="KinE"
                     /note="Sporulation sensor histidine kinase E [Cell cycle
                     control, cell division, chromosome partitioning, Signal
                     transduction mechanisms]; COG5809"
                     /db_xref="CDD:444511"
     Region          215..253
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IXF0.1)"
     Region          343..430
                     /region_name="PAS_3"
                     /note="PAS fold; pfam08447"
                     /db_xref="CDD:430001"
     Site            order(346,350,356,369..372,398,403)
                     /site_type="active"
                     /note="putative active site [active]"
                     /db_xref="CDD:238075"
     Site            order(366,370,378,381..382,410,412)
                     /site_type="other"
                     /note="heme pocket [chemical binding]"
                     /db_xref="CDD:238075"
     Region          <436..>595
                     /region_name="MSCRAMM_ClfA"
                     /note="MSCRAMM family adhesin clumping factor ClfA;
                     NF033609"
                     /db_xref="CDD:468110"
     Region          452..549
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IXF0.1)"
     Region          562..641
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IXF0.1)"
     Region          657..725
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IXF0.1)"
     Region          742..780
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8IXF0.1)"
     CDS             1..933
                     /gene="NPAS3"
                     /gene_synonym="bHLHe12; MOP6; PASD6"
                     /coded_by="NM_001164749.2:439..3240"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS53891.1"
                     /db_xref="GeneID:64067"
                     /db_xref="HGNC:HGNC:19311"
                     /db_xref="MIM:609430"
ORIGIN      
        1 maptkpsfqq dpsrrerita qhplpnqsec rkiyrydgiy cestyqnlqa lrkeksrdaa
       61 rsrrgkenfe fyelakllpl paaitsqldk asiirltisy lkmrdfanqg dppwnlrmeg
      121 pppntsvkvi gaqrrrspsa laievfeahl gshilqsldg fvfalnqegk flyisetvsi
      181 ylglsqvelt gssvfdyvhp gdhvemaeql gmklppgrgl lsqgtaedga ssassssqse
      241 tpepvestsp sllttdntle rsffirmkst ltkrgvhiks sgykvihitg rlrlrvslsh
      301 grtvpsqimg lvvvahalpp ptinevridc hmfvtrvnmd lniiycenri sdymdltpvd
      361 ivgkrcyhfi haedvegirh shldllnkgq cvtkyyrwmq knggyiwiqs satiainakn
      421 anekniiwvn yllsnpeykd tpmdiaqlph lpektsesse tsdsesdskd tsgitednen
      481 sksdekgnqs ensedpepdr kksgnacdnd mncnddghss snpdsrdsdd sfehsdfenp
      541 kagedgfgal gamqikvery vesesdlrlq ncesltsdsa kdsdsageag aqasskhqkr
      601 kkrrkrqkgg sasrrrlssa sspggldagl vepprllssp nsasvlkikt eisepinfdn
      661 dssiwnyppn reisrnespy smtkppsseh fpspqggggg gggggglhva ipdsvltppg
      721 adgaaarktq fgasataala pvasdplspp lsasprdkhp gngggggggg ggaggggpsa
      781 snsllytgdl ealqrlqagn vvlplvhrvt gtlaatstaa qrvyttgtir yapaevtlam
      841 qsnllpnaha vnfvdvnspg fgldpktpme mlyhhvhrln msgpfggavs aasltqmpag
      901 nvfttaeglf stlpfpvysn gihaaqtler ked
//
