LOCUS       NM_014284               3698 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens neurochondrin (NCDN), transcript variant 3, mRNA.
ACCESSION   NM_014284
VERSION     NM_014284.3
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 3698)
  AUTHORS   Fatima,A., Hoeber,J., Schuster,J., Koshimizu,E., Maya-Gonzalez,C.,
            Keren,B., Mignot,C., Akram,T., Ali,Z., Miyatake,S., Tanigawa,J.,
            Koike,T., Kato,M., Murakami,Y., Abdullah,U., Ali,M.A., Fadoul,R.,
            Laan,L., Castillejo-Lopez,C., Liik,M., Jin,Z., Birnir,B.,
            Matsumoto,N., Baig,S.M., Klar,J. and Dahl,N.
  TITLE     Monoallelic and bi-allelic variants in NCDN cause
            neurodevelopmental delay, intellectual disability, and epilepsy
  JOURNAL   Am J Hum Genet 108 (4), 739-748 (2021)
   PUBMED   33711248
  REMARK    GeneRIF: Monoallelic and bi-allelic variants in NCDN cause
            neurodevelopmental delay, intellectual disability, and epilepsy.
            Erratum:[Am J Hum Genet. 2022 Mar 3;109(3):542-546. doi:
            10.1016/j.ajhg.2022.02.007.. PMID: 35245475]
REFERENCE   2  (bases 1 to 3698)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 3698)
  AUTHORS   Xu,Y., Li,Z., Yao,L., Zhang,X., Gan,D., Jiang,M., Wang,N., Chen,G.
            and Wang,X.
  TITLE     Altered Norbin Expression in Patients with Epilepsy and a Rat Model
  JOURNAL   Sci Rep 7 (1), 13970 (2017)
   PUBMED   29070854
  REMARK    GeneRIF: Low norbin expression is associated with Epilepsy.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3698)
  AUTHORS   Hermann,J.S., Skroblin,P., Bertinetti,D., Hanold,L.E., von der
            Heide,E.K., Wagener,E.M., Zenn,H.M., Klussmann,E., Kennedy,E.J. and
            Herberg,F.W.
  TITLE     Neurochondrin is an atypical RIIalpha-specific A-kinase anchoring
            protein
  JOURNAL   Biochim Biophys Acta 1854 (10 Pt B), 1667-1675 (2015)
   PUBMED   25916936
  REMARK    GeneRIF: we demonstrate that neurochondrin has strong isoform
            selectivity towards the RIIa subunit of PKA with nanomolar affinity
REFERENCE   5  (bases 1 to 3698)
  AUTHORS   Matosin,N., Fernandez-Enright,F., Lum,J.S., Andrews,J.L., Engel,M.,
            Huang,X.F. and Newell,K.A.
  TITLE     Metabotropic glutamate receptor 5, and its trafficking molecules
            Norbin and Tamalin, are increased in the CA1 hippocampal region of
            subjects with schizophrenia
  JOURNAL   Schizophr Res 166 (1-3), 212-218 (2015)
   PUBMED   26048293
  REMARK    GeneRIF: Schizophrenia subjects compared to controls showed a
            marked increase in CA1 hippocampal Norbin, and Tamalin proteins
            (47% and 34% respectively), which are endogenous regulators of
            mGluR5 signalling and trafficking
REFERENCE   6  (bases 1 to 3698)
  AUTHORS   Mochizuki,R., Dateki,M., Yanai,K., Ishizuka,Y., Amizuka,N.,
            Kawashima,H., Koga,Y., Ozawa,H. and Fukamizu,A.
  TITLE     Targeted disruption of the neurochondrin/norbin gene results in
            embryonic lethality
  JOURNAL   Biochem Biophys Res Commun 310 (4), 1219-1226 (2003)
   PUBMED   14559245
REFERENCE   7  (bases 1 to 3698)
  AUTHORS   Tchernev,V.T., Mansfield,T.A., Giot,L., Kumar,A.M., Nandabalan,K.,
            Li,Y., Mishra,V.S., Detter,J.C., Rothberg,J.M., Wallace,M.R.,
            Southwick,F.S. and Kingsmore,S.F.
  TITLE     The Chediak-Higashi protein interacts with SNARE complex and signal
            transduction proteins
  JOURNAL   Mol Med 8 (1), 56-64 (2002)
   PUBMED   11984006
REFERENCE   8  (bases 1 to 3698)
  AUTHORS   Ohoka,Y., Hirotani,M., Sugimoto,H., Fujioka,S., Furuyama,T. and
            Inagaki,S.
  TITLE     Semaphorin 4C, a transmembrane semaphorin, [corrected] associates
            with a neurite-outgrowth-related protein, SFAP75
  JOURNAL   Biochem Biophys Res Commun 280 (1), 237-243 (2001)
   PUBMED   11162505
  REMARK    Erratum:[Biochem Biophys Res Commun 2001 Feb 16;281(1):266]
REFERENCE   9  (bases 1 to 3698)
  AUTHORS   Mochizuki,R., Ishizuka,Y., Yanai,K., Murakami,K., Koga,Y. and
            Fukamizu,A.
  TITLE     Corrigendum to 'Molecular cloning and expression of human
            neurochondrin-1 and -2'(1)
  JOURNAL   Biochim Biophys Acta 1490 (3), 367-368 (2000)
   PUBMED   10684983
REFERENCE   10 (bases 1 to 3698)
  AUTHORS   Mochizuki,R., Ishizuka,Y., Yanai,K., Koga,Y., Fukamizu,A. and
            Murakami,K.
  TITLE     Molecular cloning and expression of human neurochondrin-1 and -2
  JOURNAL   Biochim Biophys Acta 1446 (3), 397-402 (1999)
   PUBMED   10524216
  REMARK    Erratum:[Biochim Biophys Acta 2000 Feb 29;1490(3):367-8]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL536768.3, BC024592.1,
            BI545092.1 and AW207151.1.
            
            On Nov 22, 2018 this sequence version replaced NM_014284.2.
            
            Summary: This gene encodes a leucine-rich cytoplasmic protein,
            which is highly similar to a mouse protein that negatively
            regulates Ca/calmodulin-dependent protein kinase II phosphorylation
            and may be essential for spatial learning processes. Several
            alternatively spliced transcript variants of this gene have been
            described. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (3) differs in the 5' UTR compared
            to variant 1. Variants 1 and 3 encode the same isoform (1).
            
            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 :: BC024592.1, SRR3476690.841529.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000373243.7/ ENSP00000362340.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-18                AL536768.3         327-344
            19-271              BC024592.1         1-253
            272-344             BI545092.1         266-338
            345-3599            BC024592.1         326-3580
            3600-3698           AW207151.1         14-112              c
FEATURES             Location/Qualifiers
     source          1..3698
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.3"
     gene            1..3698
                     /gene="NCDN"
                     /gene_synonym="NEDIES"
                     /note="neurochondrin"
                     /db_xref="GeneID:23154"
                     /db_xref="HGNC:HGNC:17597"
                     /db_xref="MIM:608458"
     exon            1..425
                     /gene="NCDN"
                     /gene_synonym="NEDIES"
                     /inference="alignment:Splign:2.1.0"
     CDS             393..2582
                     /gene="NCDN"
                     /gene_synonym="NEDIES"
                     /note="isoform 1 is encoded by transcript variant 3;
                     norbin"
                     /codon_start=1
                     /product="neurochondrin isoform 1"
                     /protein_id="NP_055099.1"
                     /db_xref="CCDS:CCDS392.1"
                     /db_xref="GeneID:23154"
                     /db_xref="HGNC:HGNC:17597"
                     /db_xref="MIM:608458"
                     /translation="MSCCDLAAAGQLGKASIMASDCEPALNQAEGRNPTLERYLGALR
                     EAKNDSEQFAALLLVTKAVKAGDIDAKTRRRIFDAVGFTFPNRLLTTKEAPDGCPDHV
                     LRALGVALLACFCSDPELAAHPQVLNKIPILSTFLTARGDPDDAARRSMIDDTYQCLT
                     AVAGTPRGPRHLIAGGTVSALCQAYLGHGYGFDQALALLVGLLAAAETQCWKEAEPDL
                     LAVLRGLSEDFQKAEDASKFELCQLLPLFLPPTTVPPECYRDLQAGLARILGSKLSSW
                     QRNPALKLAARLAHACGSDWIPAGSSGSKFLALLVNLACVEVRLALEETGTEVKEDVV
                     TACYALMELGIQECTRCEQSLLKEPQKVQLVSVMKEAIGAVIHYLLQVGSEKQKEPFV
                     FASVRILGAWLAEETSSLRKEVCQLLPFLVRYAKTLYEEAEEANDLSQQVANLAISPT
                     TPGPTWPGDALRLLLPGWCHLTVEDGPREILIKEGAPSLLCKYFLQQWELTSPGHDTS
                     VLPDSVEIGLQTCCHIFLNLVVTAPGLIKRDACFTSLMNTLMTSLPALVQQQGRLLLA
                     ANVATLGLLMARLLSTSPALQGTPASRGFFAAAILFLSQSHVARATPGSDQAVLALSP
                     EYEGIWADLQELWFLGMQAFTGCVPLLPWLAPAALRSRWPQELLQLLGSVSPNSVKPE
                     MVAAYQGVLVELARANRLCREAMRLQAGEETASHYRMAALEQCLSEP"
     exon            426..566
                     /gene="NCDN"
                     /gene_synonym="NEDIES"
                     /inference="alignment:Splign:2.1.0"
     exon            567..1535
                     /gene="NCDN"
                     /gene_synonym="NEDIES"
                     /inference="alignment:Splign:2.1.0"
     exon            1536..1777
                     /gene="NCDN"
                     /gene_synonym="NEDIES"
                     /inference="alignment:Splign:2.1.0"
     exon            1778..2002
                     /gene="NCDN"
                     /gene_synonym="NEDIES"
                     /inference="alignment:Splign:2.1.0"
     exon            2003..2145
                     /gene="NCDN"
                     /gene_synonym="NEDIES"
                     /inference="alignment:Splign:2.1.0"
     exon            2146..3698
                     /gene="NCDN"
                     /gene_synonym="NEDIES"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3674..3679
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NCDN"
                     /gene_synonym="NEDIES"
                     /note="hexamer: AATAAA"
     polyA_site      3698
                     /gene="NCDN"
                     /gene_synonym="NEDIES"
                     /note="major polyA site"
ORIGIN      
        1 agtgggcaac gcggcgtgag cagcggcccg aggctcccgg agcatcgcgc tgggagaaga
       61 cttcgccgct cggggccgca gcctggtgag ctcagccccc ttcgggccct cccctgcatc
      121 ccagccgggg cctctccgag ccggcgctga tcgatgccga cacaccccgg ggaccctatc
      181 gcgactccat cgcgccatat cgcgacacca tcgtgccctg tcgagactcc attttgtcac
      241 agcccttttc aatatatatc tttttttttt ttaatttgcc ctgtcatctt tgggggctgt
      301 ctcccatgtc gtgattttga cgtgatctct ccgtgacatc accgcgccat cgtgaagtgt
      361 gatctcatcg ccgccctgtc gtgacttcat caatgtcgtg ttgtgacctg gctgcggcgg
      421 gacagttggg caaggcgagc atcatggcct cggattgcga gccagctctg aaccaggcag
      481 agggccgaaa ccccaccctg gagcgctacc tgggagccct ccgtgaggcc aagaatgaca
      541 gcgagcagtt tgcagccctg ctgctagtga ccaaggcagt caaagcaggt gacatagatg
      601 ccaaaactcg gcggcggatc ttcgatgctg tcggcttcac cttccccaat cgtctcctga
      661 ccaccaagga ggcgccggat ggctgccctg accatgttct gcgggctttg ggtgtggccc
      721 tgctggcctg cttctgcagt gaccctgaac tggccgccca tccccaagtc ctgaacaaga
      781 ttcccattct tagcaccttc ctcacagccc ggggggaccc ggacgatgct gcccgccgct
      841 ccatgattga tgacacctac cagtgcctga cggctgtagc aggcacaccc agagggcctc
      901 ggcacctcat tgctggtggc accgtgtctg ccctatgcca ggcatacctg gggcacggct
      961 atggctttga ccaggccctg gcactcctgg tggggctgct ggctgctgcc gagacacagt
     1021 gctggaagga ggcggagccc gacctgctgg ccgtgttgcg gggcctcagt gaggatttcc
     1081 agaaagctga ggatgccagc aagtttgagc tctgccagct gctgcccctc tttttgcccc
     1141 cgacaaccgt gccccctgaa tgctaccggg atctgcaggc cgggctggca cgcatcctgg
     1201 gaagcaagct gagctcctgg cagcgcaacc ctgcactgaa gctggcagcc cgcctggcac
     1261 acgcctgcgg ctccgactgg atcccggcgg gcagctccgg gagcaagttc ctggccctgc
     1321 tggtgaatct ggcgtgcgtg gaagtgcggc tggcactgga ggagacgggc acggaggtga
     1381 aagaggatgt ggtgaccgcc tgctatgccc tcatggagtt ggggatccag gaatgcactc
     1441 gctgtgagca gtcactgctt aaggagccac agaaggtgca gctcgtgagc gtcatgaagg
     1501 aggccatagg ggctgttatc cactacctgc tgcaggtggg gtcagagaag cagaaggagc
     1561 cctttgtgtt tgcctcggtg cggatcctgg gtgcctggct ggccgaggag acctcatcct
     1621 tgcgtaagga ggtgtgccag ctgctgccct tcctcgtccg ctatgccaag accctctacg
     1681 aggaggccga ggaggccaat gacctttccc agcaggtggc caacctggcc atctccccca
     1741 ccaccccagg gcccacctgg ccaggagacg ctctccggct cctcctgcct ggctggtgcc
     1801 acctgaccgt tgaagatggg ccccgggaga tcctgatcaa ggaaggggcc ccctcgcttc
     1861 tgtgcaagta tttcctgcag cagtgggaac tcacatcccc tggccacgac acctcggtgc
     1921 tgcctgacag cgtggagatt ggcctgcaga cctgctgcca catcttcctc aacctcgtgg
     1981 tcaccgcacc ggggctgatc aagcgtgacg cctgcttcac atctctaatg aacaccctca
     2041 tgacgtcgct accagcacta gtgcagcaac agggaaggct gcttctggct gctaatgtgg
     2101 ccaccctggg gctcctcatg gcccggctcc ttagcacctc tccagctctt cagggaacac
     2161 cagcatcccg agggttcttc gcagctgcca tcctcttcct atcacagtcc cacgtggcgc
     2221 gggccacccc gggctcagac caggcagtgc tagccctgtc ccctgagtat gagggcatct
     2281 gggccgacct gcaggagctc tggttcctgg gcatgcaggc cttcaccggc tgtgtgcctc
     2341 tgctgccctg gctggccccc gctgccctgc gctcccgctg gccgcaggag ctgctccagc
     2401 tgctaggcag tgtcagcccc aactctgtca agcccgagat ggtggccgcc tatcagggtg
     2461 tcctggtgga gctggcgcgg gccaaccggc tgtgccggga ggccatgagg ctgcaggcgg
     2521 gcgaggagac ggccagccac taccgcatgg ctgccttgga gcagtgcctg tcagagccct
     2581 gaggggtgtc caccggggac agacccaggg gcgggcagag agggaaggag ggaggaggca
     2641 tcttccctga agcccccaat ctggcccccc cctccccaga cttcctcccc aaaacacccc
     2701 agctttctgg cttttctgag ggcaagggca tggtgcccac ccctcaagtg taaggaactg
     2761 cgttccgccc ctcaggcccc catgggggca gggatcggct tggaaatcaa cgtggttgtc
     2821 cccgccaggc cggggaaggt tggagcagcc cccagggagg ggggcactag gtgtcattgt
     2881 gcccgatgtc tggctcccct gcaggaggga ggctccaggg taagacaggg ctggcaggag
     2941 cagactgcct cagcccatgt gccctgccgg ccagggcgtg ggctcccctc ggctgtggtg
     3001 cctcctctgg ccccccaggt ccacgtcctt taaattggcc ctttggctct tgcccttggc
     3061 tcccttgggc agacagcagg cttaggccat tgatatcgca gttcttccta tcagcttcag
     3121 tgacccaggg tctgaactgc ctccatccta gggcaacctg gggcagacag gcctggtggg
     3181 gggtggggaa acctccttcc acctgagctt gcttgaaggg acccagagtc tttgggccca
     3241 gatctttaaa cctttgtgtc gtgttgcagc agagtgacga tgggggttgg ggggttattt
     3301 attttgcctg tccttatccc tgcttggaca cctgagcatc tgattcctgt ccccctggtg
     3361 ccatctggcc tggctggagc caggaacagg agggacactt ccccagaatc cgcatgtttc
     3421 cccagtgatt acactccact gccaccgtgg tgcctggctt taactcccac ccctgctatg
     3481 actcctctct gcagagacgc gactggcggc tccagcaggg actacctttc ttataaaccc
     3541 agggggacca cacacacaca cacacacaca cacacacaca cacacacaca cacacacact
     3601 cttgatccct tgcttccctc ccccagtgcg ttctgtgatc gccaagttca aagctgtgca
     3661 catgtggaca ctcaataaat gttcattggt gacgagaa
//
