LOCUS       NM_014697               5016 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens nitric oxide synthase 1 adaptor protein (NOS1AP),
            transcript variant 1, mRNA.
ACCESSION   NM_014697
VERSION     NM_014697.3
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 5016)
  AUTHORS   Li,J., Ouyang,L., Liu,X., Wang,Q., Min,Z., Liu,G., Zhong,Y.,
            Zhang,N., Wang,C. and Liu,N.
  TITLE     The influence of NOS1AP gene polymorphisms and childhood abuse on
            antisocial personality disorder in Chinese male violent inmates
  JOURNAL   Personal Ment Health 17 (2), 184-193 (2023)
   PUBMED   36463909
  REMARK    GeneRIF: The influence of NOS1AP gene polymorphisms and childhood
            abuse on antisocial personality disorder in Chinese male violent
            inmates.
REFERENCE   2  (bases 1 to 5016)
  AUTHORS   Esen-Sehir,D., Kopf,J., Hagele,S., Plichta,M.M., Reif,A. and
            Freudenberg,F.
  TITLE     Influence of NOS1AP Risk Variants on the Corrected QT (QTc)
            Interval in the Pharmacotherapy of Schizophrenia
  JOURNAL   Pharmacopsychiatry 55 (5), 266-273 (2022)
   PUBMED   35732169
  REMARK    GeneRIF: Influence of NOS1AP Risk Variants on the Corrected QT
            (QTc) Interval in the Pharmacotherapy of Schizophrenia.
REFERENCE   3  (bases 1 to 5016)
  AUTHORS   Zang,X., Zhang,S., Li,S., Wang,X., Song,W., Chen,K., Ma,J., Tu,X.,
            Xia,Y., Zhao,Y. and Gao,C.
  TITLE     Evaluating Common NOS1AP Variants in Patients with Implantable
            Cardioverter Defibrillators for Secondary Prevention : Evaluating
            SNPs in NOS1AP
  JOURNAL   J Interv Card Electrophysiol 64 (3), 793-800 (2022)
   PUBMED   35353321
  REMARK    GeneRIF: Evaluating Common NOS1AP Variants in Patients with
            Implantable Cardioverter Defibrillators for Secondary Prevention :
            Evaluating SNPs in NOS1AP.
REFERENCE   4  (bases 1 to 5016)
  AUTHORS   Soroush,N., Aarnoudse,A.J., Kavousi,M., Kors,J.A., Ikram,M.A.,
            Newton-Cheh,C., Ahmadizar,F. and Stricker,B.H.
  TITLE     A NOS1AP gene variant is associated with a paradoxical increase of
            the QT-interval shortening effect of digoxin
  JOURNAL   Pharmacogenomics J 22 (1), 55-61 (2022)
   PUBMED   34616002
  REMARK    GeneRIF: A NOS1AP gene variant is associated with a paradoxical
            increase of the QT-interval shortening effect of digoxin.
REFERENCE   5  (bases 1 to 5016)
  AUTHORS   Wang,T., Song,J.F., Zhou,X.Y., Li,C.L., Yin,X.X. and Lu,Q.
  TITLE     PPARD rs2016520 (T/C) and NOS1AP rs12742393 (A/C) polymorphisms
            affect therapeutic efficacy of nateglinide in Chinese patients with
            type 2 diabetes mellitus
  JOURNAL   BMC Med Genomics 14 (1), 267 (2021)
   PUBMED   34772419
  REMARK    GeneRIF: PPARD rs2016520 (T/C) and NOS1AP rs12742393 (A/C)
            polymorphisms affect therapeutic efficacy of nateglinide in Chinese
            patients with type 2 diabetes mellitus.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 5016)
  AUTHORS   Xu,B., Wratten,N., Charych,E.I., Buyske,S., Firestein,B.L. and
            Brzustowicz,L.M.
  TITLE     Increased expression in dorsolateral prefrontal cortex of CAPON in
            schizophrenia and bipolar disorder
  JOURNAL   PLoS Med 2 (10), e263 (2005)
   PUBMED   16146415
  REMARK    GeneRIF: study adds support to a role of CAPON in schizophrenia,
            produces new evidence implicating this gene in the etiology of
            bipolar disorder, and suggests a possible mechanism of action of
            CAPON in psychiatric illness
REFERENCE   7  (bases 1 to 5016)
  AUTHORS   Fang,M., Jaffrey,S.R., Sawa,A., Ye,K., Luo,X. and Snyder,S.H.
  TITLE     Dexras1: a G protein specifically coupled to neuronal nitric oxide
            synthase via CAPON
  JOURNAL   Neuron 28 (1), 183-193 (2000)
   PUBMED   11086993
REFERENCE   8  (bases 1 to 5016)
  AUTHORS   Ort,T., Maksimova,E., Dirkx,R., Kachinsky,A.M., Berghs,S.,
            Froehner,S.C. and Solimena,M.
  TITLE     The receptor tyrosine phosphatase-like protein ICA512 binds the PDZ
            domains of beta2-syntrophin and nNOS in pancreatic beta-cells
  JOURNAL   Eur J Cell Biol 79 (9), 621-630 (2000)
   PUBMED   11043403
REFERENCE   9  (bases 1 to 5016)
  AUTHORS   Gotthardt,M., Trommsdorff,M., Nevitt,M.F., Shelton,J.,
            Richardson,J.A., Stockinger,W., Nimpf,J. and Herz,J.
  TITLE     Interactions of the low density lipoprotein receptor gene family
            with cytosolic adaptor and scaffold proteins suggest diverse
            biological functions in cellular communication and signal
            transduction
  JOURNAL   J Biol Chem 275 (33), 25616-25624 (2000)
   PUBMED   10827173
REFERENCE   10 (bases 1 to 5016)
  AUTHORS   Jaffrey,S.R., Snowman,A.M., Eliasson,M.J., Cohen,N.A. and
            Snyder,S.H.
  TITLE     CAPON: a protein associated with neuronal nitric oxide synthase
            that regulates its interactions with PSD95
  JOURNAL   Neuron 20 (1), 115-124 (1998)
   PUBMED   9459447
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL590408.15, AB007933.2,
            BC112295.1 and AL512785.7.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_014697.2.
            
            Summary: This gene encodes a cytosolic protein that binds to the
            signaling molecule, neuronal nitric oxide synthase (nNOS). This
            protein has a C-terminal PDZ-binding domain that mediates
            interactions with nNOS and an N-terminal phosphotyrosine binding
            (PTB) domain that binds to the small monomeric G protein, Dexras1.
            Studies of the related mouse and rat proteins have shown that this
            protein functions as an adapter protein linking nNOS to specific
            targets, such as Dexras1 and the synapsins. Alternative splicing
            results in multiple transcript variants encoding different
            isoforms. [provided by RefSeq, Sep 2009].
            
            Transcript Variant: This variant (1) encodes the full-length
            protein (isoform 1).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            transcript and genomic sequence to make the sequence consistent
            with the reference genome assembly. The genomic coordinates used
            for the transcript record were based on 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 :: AB007933.2, BC112295.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000361897.10/ ENSP00000355133.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-100               AL590408.15        64857-64956
            101-1050            AB007933.2         1-950
            1051-2033           BC112295.1         652-1634
            2034-4564           AL512785.7         54728-57258
            4565-5016           AL512785.7         57259-57710
FEATURES             Location/Qualifiers
     source          1..5016
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.3"
     gene            1..5016
                     /gene="NOS1AP"
                     /gene_synonym="6330408P19Rik; CAPON; NPHS22"
                     /note="nitric oxide synthase 1 adaptor protein"
                     /db_xref="GeneID:9722"
                     /db_xref="HGNC:HGNC:16859"
                     /db_xref="MIM:605551"
     exon            1..592
                     /gene="NOS1AP"
                     /gene_synonym="6330408P19Rik; CAPON; NPHS22"
                     /inference="alignment:Splign:2.1.0"
     CDS             488..2008
                     /gene="NOS1AP"
                     /gene_synonym="6330408P19Rik; CAPON; NPHS22"
                     /note="isoform 1 is encoded by transcript variant 1;
                     ligand of neuronal nitric oxide synthase with
                     carboxyl-terminal PDZ domain; carboxyl-terminal PDZ ligand
                     of neuronal nitric oxide synthase protein; C-terminal PDZ
                     domain ligand of neuronal nitric oxide synthase (CAPON);
                     C-terminal PDZ ligand of neuronal nitric oxide synthase
                     protein; nitric oxide synthase 1 (neuronal) adaptor
                     protein"
                     /codon_start=1
                     /product="carboxyl-terminal PDZ ligand of neuronal nitric
                     oxide synthase protein isoform 1"
                     /protein_id="NP_055512.1"
                     /db_xref="CCDS:CCDS1237.1"
                     /db_xref="GeneID:9722"
                     /db_xref="HGNC:HGNC:16859"
                     /db_xref="MIM:605551"
                     /translation="MPSKTKYNLVDDGHDLRIPLHNEDAFQHGICFEAKYVGSLDVPR
                     PNSRVEIVAAMRRIRYEFKAKNIKKKKVSIMVSVDGVKVILKKKKKLLLLQKKEWTWD
                     ESKMLVMQDPIYRIFYVSHDSQDLKIFSYIARDGASNIFRCNVFKSKKKSQAMRIVRT
                     VGQAFEVCHKLSLQHTQQNADGQEDGESERNSNSSGDPGRQLTGAERASTATAEETDI
                     DAVEVPLPGNDVLEFSRGVTDLDAVGKEGGSHTGSKVSHPQEPMLTASPRMLLPSSSS
                     KPPGLGTETPLSTHHQMQLLQQLLQQQQQQTQVAVAQVHLLKDQLAAEAAARLEAQAR
                     VHQLLLQNKDMLQHISLLVKQVQELELKLSGQNAMGSQDSLLEITFRSGALPVLCDPT
                     TPKPEDLHSPPLGAGLADFAHPAGSPLGRRDCLVKLECFRFLPPEDTPPPAQGEALLG
                     GLELIKFRESGIASEYESNTDESEERDSWSQEELPRLLNVLQRQELGDGLDDEIAV"
     exon            593..664
                     /gene="NOS1AP"
                     /gene_synonym="6330408P19Rik; CAPON; NPHS22"
                     /inference="alignment:Splign:2.1.0"
     exon            665..757
                     /gene="NOS1AP"
                     /gene_synonym="6330408P19Rik; CAPON; NPHS22"
                     /inference="alignment:Splign:2.1.0"
     exon            758..831
                     /gene="NOS1AP"
                     /gene_synonym="6330408P19Rik; CAPON; NPHS22"
                     /inference="alignment:Splign:2.1.0"
     exon            832..940
                     /gene="NOS1AP"
                     /gene_synonym="6330408P19Rik; CAPON; NPHS22"
                     /inference="alignment:Splign:2.1.0"
     exon            941..1082
                     /gene="NOS1AP"
                     /gene_synonym="6330408P19Rik; CAPON; NPHS22"
                     /inference="alignment:Splign:2.1.0"
     exon            1083..1249
                     /gene="NOS1AP"
                     /gene_synonym="6330408P19Rik; CAPON; NPHS22"
                     /inference="alignment:Splign:2.1.0"
     exon            1250..1426
                     /gene="NOS1AP"
                     /gene_synonym="6330408P19Rik; CAPON; NPHS22"
                     /inference="alignment:Splign:2.1.0"
     exon            1427..1592
                     /gene="NOS1AP"
                     /gene_synonym="6330408P19Rik; CAPON; NPHS22"
                     /inference="alignment:Splign:2.1.0"
     exon            1593..5016
                     /gene="NOS1AP"
                     /gene_synonym="6330408P19Rik; CAPON; NPHS22"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4996..5001
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NOS1AP"
                     /gene_synonym="6330408P19Rik; CAPON; NPHS22"
                     /note="hexamer: AATAAA"
     polyA_site      5016
                     /gene="NOS1AP"
                     /gene_synonym="6330408P19Rik; CAPON; NPHS22"
                     /note="major polyA site"
ORIGIN      
        1 acaggaggag ccgctcgctg gcggctgatc cagcgtctcc gtgacaggca ccctgctccg
       61 ccgccaccgc caccgccacc gccaccgtcg ccttttcttc ttcgtcccgg gcggtgcgtt
      121 ccactgctct ggggccggcg ccgcgcccag tcccgcttcg ggccgcaagc cccaccgctc
      181 ccctccccgg gcaggggcgc cgcgcagccc gctcccgccg ccacctcctc ccctgccgcc
      241 ctcctagccg gcaggaattg cgcgaccaca gcgccgctcg cgtcgcccgc atcagctcag
      301 cccgctgccg ctcggccctc ggcaccgctc cgggtccggc cgccgcgcgg ccagggctcc
      361 ccctgcccag cgctcccagg ccccgccacg cgtcgccgcg cccagctcca gtctcccctc
      421 cccggggtct cgccagcccc ttcctgcagc cgccgcctcc gaaggagcgg gtccgccgcg
      481 ggtaaccatg cctagcaaaa ccaagtacaa ccttgtggac gatgggcacg acctgcggat
      541 ccccttgcac aacgaggacg ccttccagca cggcatctgc tttgaggcca agtacgtagg
      601 aagcctggac gtgccaaggc ccaacagcag ggtggagatc gtggctgcca tgcgccggat
      661 acggtatgag tttaaagcca agaacatcaa gaagaagaaa gtgagcatta tggtttcagt
      721 ggatggagtg aaagtgattc tgaagaagaa gaaaaagctt cttttattgc agaaaaagga
      781 atggacgtgg gatgagagca agatgctggt gatgcaggac cccatctaca ggatcttcta
      841 tgtctctcat gattcccaag acttgaagat cttcagctat atcgctcgag atggtgccag
      901 caatatcttc aggtgtaacg tctttaaatc caagaagaag agccaagcta tgagaatcgt
      961 tcggacggtg gggcaggcct ttgaggtctg ccacaagctg agcctgcagc acacgcagca
     1021 gaatgcagat ggccaggaag atggagagag cgagaggaac agcaacagct caggagaccc
     1081 aggccgccag ctcactggag ccgagagggc ctccacggcc actgcagagg agactgacat
     1141 cgatgcggtg gaggtcccac ttccagggaa tgatgtcctg gaattcagcc gaggtgtgac
     1201 tgatctagat gctgtaggga aggaaggagg ctctcacaca ggctccaagg tttcgcaccc
     1261 ccaggagccc atgctgacag cctcacccag gatgctgctc ccttcttctt cctcgaagcc
     1321 tccaggcctg ggcacagaga caccgctgtc cactcaccac cagatgcagc tcctccagca
     1381 gctcctccag cagcagcagc agcagacaca agtggctgtg gcccaggtac acttgctgaa
     1441 ggaccagttg gctgctgagg ctgcggcgcg gctggaggcc caggctcgcg tgcatcagct
     1501 tttgctgcag aacaaggaca tgctccagca catctccctg ctggtcaagc aggtgcaaga
     1561 gctggaactg aagctgtcag gacagaacgc catgggctcc caggacagct tgctggagat
     1621 caccttccgc tccggagccc tgcccgtgct ctgtgacccc acgaccccta agccagagga
     1681 cctgcattcg ccgccgctgg gcgcgggctt ggctgacttt gcccaccctg cgggcagccc
     1741 cttaggtagg cgcgactgct tggtgaagct ggagtgcttt cgctttcttc cgcccgagga
     1801 caccccgccc ccagcgcagg gcgaggcgct cctgggcggt ctggagctca tcaagttccg
     1861 agagtcaggc atcgcctcgg agtacgagtc caacacggac gagagcgagg agcgcgactc
     1921 gtggtcccag gaggagctgc cgcgcctgct gaatgtcctg cagaggcagg aactgggcga
     1981 cggcctggat gatgagatcg ccgtgtaggt gccgagggcg aggagatgga ggcggcggcg
     2041 tggctggagg ggccgtgtct ggctgctgcc cgggtagggg atgcccagtg aatgtgcact
     2101 gccgaggaga atgccagcca gggcccggga gagtgtgagg tttcaggaaa gtattgagat
     2161 tctgctttgg agggtaaagt ggggaagaaa tcggattccc agaggtgaat cagctcctct
     2221 cctacttgtg actagagggt ggtggaggta aggccttcca gagcccatgg cttcaggaga
     2281 gggtctctct ccaggactgc caggctgctg gaggacctgc ccctacctgc tgcatcgtca
     2341 ggctcccacg ctttgtccgt gatgcccccc taccccctca ctctccccgt ctccatggtc
     2401 ccgaccagga agggaagcca tcggtacctt ctcaggtact ttgtttctgg atatcacgat
     2461 gctgcgagtt gcctaaccct ccccctacct ttatgagagg aattccttct ccaggccctt
     2521 gctgagattg tagagattga gtgctctgga ccgcaaaagc caggctagtc cttgtagggt
     2581 gagcatggaa ttggaatgtg tcacagtgga taagctttta gaggaactga atccaaacat
     2641 tttctccagc cggacattga atgttgctac aaagggagcc ttgaagcttt aacatggttc
     2701 aggcccttgg tgtgagagcc cagggggagg acagcttgtc tgctgctcca aatcacttag
     2761 atctgattcc tgttttgaaa gtcctgccct gccttcctcc tgcctgtagc ccagcccatc
     2821 taaatggaag ctgggaattg cccctcacct cccctgtgtc ctgtccagct gaagcttttg
     2881 cagcacttta cctctctgaa agccccagag gaccagagcc cccagcctta cctctcaacc
     2941 tgtcccctcc actgggcagt ggtggtcagt ttttactgca aaaaaaaaaa aagaaaaaag
     3001 agaaagaaaa aaaagaatga atgcaagctg atagctgaga ctgtgagact gtttttgtcc
     3061 actcttctga atcactgcca cttgggtcag ggaccacagc cattgccacc cttggcccat
     3121 ctctctgcgt gcgtgccttg agcacacata taaaaagtgc catgtgcaat tgtcttatct
     3181 tttatgatct aggctttgcc tagggatcac tactccttaa cgggctggct ggggcaatga
     3241 ggaaaagctc ctttgctcct gtaaggccat aagtggctgt taacagattt tcaaatgcct
     3301 gaagagattg ctgagacctg ctagagtcat atgttcgggg aattaagtct ttatcctaga
     3361 caacaaggta cagatgcaaa ctgcagtgtt attggagggt caatcggcaa ggatatgatt
     3421 atcccaaaat ggagttcatc gaccctagct ttcctttaga ttatatataa ataaaagtgc
     3481 agtcctcttc taatggccac agttggtttt cttgtagccc agaaagtcca aattaaagga
     3541 aataaattca gttttatgtt agccttcctt ggtgcatcag ggtgtcagtg gaaataggat
     3601 caggtggtgt gtgtgtgtgt gttttgtgtg tgtgtgtaca catgtgttta tatatacatg
     3661 tgtgagggaa agtgtgtaca tatatgtagg attgtaacca gacggaaaag aacgaggatc
     3721 tccagggtgt ttgaatcagc aacagatttg tgttttctaa catgcattta gttggagagg
     3781 catggttctg tttgttttgt tttgatctaa tttgccattg gaaataggta cagttacaca
     3841 gagaaggaag aaccaggaaa gtgagatcca tgaaactaaa tgagcagctg tcagaatcca
     3901 gtgtggctga gcctacctag cttatgaaat ctaacccagg gttccctgag tccaagacca
     3961 cttagattat taagattttg aacgtccaga ggagtgaaaa gtctgttttc tgacgtaagc
     4021 cggagctgag gataaagcca gaggccagtg gattaggtgt atggaatgtg gatggagagg
     4081 gcttgtgtgg gatgtggcca gggagtgggt gaggaaggcc gcttctaaat ggcctgtaaa
     4141 aacttgagat tggatagacg aaaggaaatg gagaaattaa agaattggag aaactagtta
     4201 tctgtgttgc tgactttggg acccatccaa gactcctgcc cttggggtgt tccatggtgg
     4261 tttcttcctg cctgggcgcc accctttccc cagttcaggc cctccctgga ggactagttt
     4321 gtgtattggt atcctcccca gtggacccaa accagcgcat acttggtgtg tggagatggg
     4381 agacaaagga cagatctagg agccttgaag gatcaccagc caccgaccct ccatcagggc
     4441 caactgggca ggaaagggaa cattgcagac ctgatttccc gacgatgtca ccctgtcctc
     4501 cctccttgct tcttgctctg ctaactcaac tctgccttcc tctttttcat tcttctactc
     4561 tgccctatat ggaggacaaa tggacaccag gggtgctaac cttattggtg cctgccccag
     4621 cctaccccag gtgccagcag actctcgtgc acaggaggct cccacagtta tggagccagg
     4681 aaagaatttc tctgcactgg atggactgta tattgagatt aaaaattata ttccttatat
     4741 tcctgcttat atcaatgctc tctctgtaaa acctcttcct agcctcattt ctctcaactg
     4801 atcttgttta ggcgttgtat tccttttatt tactctttgc ttgactgctt cctcctaacc
     4861 ctctacccac tagcactcta cttcctaaag ctgttgtgtc attaactctg ttggatcaac
     4921 tctctgggaa aagattctgt taatgtaagt gcacttactc cctggatgtt gtcactagtc
     4981 tagtggcttt tgctaaataa acctttctta tttcta
//
