LOCUS       NM_022463               3045 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens nucleoredoxin (NXN), transcript variant 1, mRNA.
ACCESSION   NM_022463
VERSION     NM_022463.5
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 3045)
  AUTHORS   Zhang,Y., Zuo,D., Qiu,J., Li,K., Niu,Y., Yuan,Y., Qiu,Y., Qiao,L.,
            He,W., Wang,C., Yuan,Y. and Li,B.
  TITLE     NXN suppresses metastasis of hepatocellular carcinoma by promoting
            degradation of Snail through binding to DUB3
  JOURNAL   Cell Death Dis 13 (8), 676 (2022)
   PUBMED   35927236
  REMARK    GeneRIF: NXN suppresses metastasis of hepatocellular carcinoma by
            promoting degradation of Snail through binding to DUB3.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3045)
  AUTHORS   Blanco-Luquin,I., Acha,B., Urdanoz-Casado,A., Gomez-Orte,E.,
            Roldan,M., Perez-Rodriguez,D.R., Cabello,J. and Mendioroz,M.
  TITLE     NXN Gene Epigenetic Changes in an Adult Neurogenesis Model of
            Alzheimer's Disease
  JOURNAL   Cells 11 (7), 1069 (2022)
   PUBMED   35406633
  REMARK    GeneRIF: NXN Gene Epigenetic Changes in an Adult Neurogenesis Model
            of Alzheimer's Disease.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3045)
  AUTHORS   Zhang,C., Mazzeu,J.F., Eisfeldt,J., Grochowski,C.M., White,J.,
            Akdemir,Z.C., Jhangiani,S.N., Muzny,D.M., Gibbs,R.A.,
            Lindstrand,A., Lupski,J.R., Sutton,V.R. and Carvalho,C.M.B.
  TITLE     Novel pathogenic genomic variants leading to autosomal dominant and
            recessive Robinow syndrome
  JOURNAL   Am J Med Genet A 185 (12), 3593-3600 (2021)
   PUBMED   33048444
  REMARK    GeneRIF: Novel pathogenic genomic variants leading to autosomal
            dominant and recessive Robinow syndrome.
REFERENCE   4  (bases 1 to 3045)
  AUTHORS   White,J.J., Mazzeu,J.F., Coban-Akdemir,Z., Bayram,Y.,
            Bahrambeigi,V., Hoischen,A., van Bon,B.W.M., Gezdirici,A.,
            Gulec,E.Y., Ramond,F., Touraine,R., Thevenon,J., Shinawi,M.,
            Beaver,E., Heeley,J., Hoover-Fong,J., Durmaz,C.D., Karabulut,H.G.,
            Marzioglu-Ozdemir,E., Cayir,A., Duz,M.B., Seven,M., Price,S.,
            Ferreira,B.M., Vianna-Morgante,A.M., Ellard,S., Parrish,A.,
            Stals,K., Flores-Daboub,J., Jhangiani,S.N., Gibbs,R.A.,
            Brunner,H.G., Sutton,V.R., Lupski,J.R. and Carvalho,C.M.B.
  CONSRTM   Baylor-Hopkins Center for Mendelian Genomics
  TITLE     WNT Signaling Perturbations Underlie the Genetic Heterogeneity of
            Robinow Syndrome
  JOURNAL   Am J Hum Genet 102 (1), 27-43 (2018)
   PUBMED   29276006
REFERENCE   5  (bases 1 to 3045)
  AUTHORS   Simino,J., Shi,G., Bis,J.C., Chasman,D.I., Ehret,G.B., Gu,X.,
            Guo,X., Hwang,S.J., Sijbrands,E., Smith,A.V., Verwoert,G.C.,
            Bragg-Gresham,J.L., Cadby,G., Chen,P., Cheng,C.Y., Corre,T., de
            Boer,R.A., Goel,A., Johnson,T., Khor,C.C., Lluis-Ganella,C.,
            Luan,J., Lyytikainen,L.P., Nolte,I.M., Sim,X., Sober,S., van der
            Most,P.J., Verweij,N., Zhao,J.H., Amin,N., Boerwinkle,E.,
            Bouchard,C., Dehghan,A., Eiriksdottir,G., Elosua,R., Franco,O.H.,
            Gieger,C., Harris,T.B., Hercberg,S., Hofman,A., James,A.L.,
            Johnson,A.D., Kahonen,M., Khaw,K.T., Kutalik,Z., Larson,M.G.,
            Launer,L.J., Li,G., Liu,J., Liu,K., Morrison,A.C., Navis,G.,
            Ong,R.T., Papanicolau,G.J., Penninx,B.W., Psaty,B.M., Raffel,L.J.,
            Raitakari,O.T., Rice,K., Rivadeneira,F., Rose,L.M., Sanna,S.,
            Scott,R.A., Siscovick,D.S., Stolk,R.P., Uitterlinden,A.G.,
            Vaidya,D., van der Klauw,M.M., Vasan,R.S., Vithana,E.N., Volker,U.,
            Volzke,H., Watkins,H., Young,T.L., Aung,T., Bochud,M., Farrall,M.,
            Hartman,C.A., Laan,M., Lakatta,E.G., Lehtimaki,T., Loos,R.J.,
            Lucas,G., Meneton,P., Palmer,L.J., Rettig,R., Snieder,H., Tai,E.S.,
            Teo,Y.Y., van der Harst,P., Wareham,N.J., Wijmenga,C., Wong,T.Y.,
            Fornage,M., Gudnason,V., Levy,D., Palmas,W., Ridker,P.M.,
            Rotter,J.I., van Duijn,C.M., Witteman,J.C., Chakravarti,A. and
            Rao,D.C.
  CONSRTM   LifeLines Cohort Study
  TITLE     Gene-age interactions in blood pressure regulation: a large-scale
            investigation with the CHARGE, Global BPgen, and ICBP Consortia
  JOURNAL   Am J Hum Genet 95 (1), 24-38 (2014)
   PUBMED   24954895
REFERENCE   6  (bases 1 to 3045)
  AUTHORS   Muller,L., Funato,Y., Miki,H. and Zimmermann,R.
  TITLE     An interaction between human Sec63 and nucleoredoxin may provide
            the missing link between the SEC63 gene and polycystic liver
            disease
  JOURNAL   FEBS Lett 585 (4), 596-600 (2011)
   PUBMED   21251912
  REMARK    GeneRIF: identified nucleoredoxin as an interaction partner of
            Sec63; characterized this interaction; Sec63 is linked to the Wnt
            signaling pathways and this interaction may be the reason why
            mutations in SEC63 can lead to polycystic liver disease
REFERENCE   7  (bases 1 to 3045)
  AUTHORS   Ollila,H.M., Soronen,P., Silander,K., Palo,O.M., Kieseppa,T.,
            Kaunisto,M.A., Lonnqvist,J., Peltonen,L., Partonen,T. and Paunio,T.
  TITLE     Findings from bipolar disorder genome-wide association studies
            replicate in a Finnish bipolar family-cohort
  JOURNAL   Mol Psychiatry 14 (4), 351-353 (2009)
   PUBMED   19308021
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 3045)
  AUTHORS   Funato,Y. and Miki,H.
  TITLE     Nucleoredoxin, a novel thioredoxin family member involved in cell
            growth and differentiation
  JOURNAL   Antioxid Redox Signal 9 (8), 1035-1057 (2007)
   PUBMED   17567240
  REMARK    GeneRIF: Nucleoredoxin is a novel thioredoxin family member
            involved in cell growth and differentiation [review]
            Review article
REFERENCE   9  (bases 1 to 3045)
  AUTHORS   Hirota,K., Matsui,M., Murata,M., Takashima,Y., Cheng,F.S., Itoh,T.,
            Fukuda,K. and Yodoi,J.
  TITLE     Nucleoredoxin, glutaredoxin, and thioredoxin differentially
            regulate NF-kappaB, AP-1, and CREB activation in HEK293 cells
  JOURNAL   Biochem Biophys Res Commun 274 (1), 177-182 (2000)
   PUBMED   10903915
  REMARK    Erratum:[Biochem Biophys Res Commun 2000 Aug 18;275(1):247. Junji,
            Y [corrected to Yodoi, J]]
REFERENCE   10 (bases 1 to 3045)
  AUTHORS   Kurooka,H., Kato,K., Minoguchi,S., Takahashi,Y., Ikeda,J., Habu,S.,
            Osawa,N., Buchberg,A.M., Moriwaki,K., Shisa,H. and Honjo,T.
  TITLE     Cloning and characterization of the nucleoredoxin gene that encodes
            a novel nuclear protein related to thioredoxin
  JOURNAL   Genomics 39 (3), 331-339 (1997)
   PUBMED   9119370
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC015884.15, CX786695.1,
            AW752727.1, BC063828.1 and AC087392.10.
            
            On Nov 24, 2018 this sequence version replaced NM_022463.4.
            
            Summary: This gene encodes a member of the thioredoxin superfamily,
            a group of small, multifunctional redox-active proteins. Members of
            this family are characterized by a conserved active motif called
            the thioredoxin fold that catalyzes disulfide bond formation and
            isomerization. The encoded protein acts a redox-dependent regulator
            of the Wnt signaling pathway and is involved in cell growth and
            differentiation. [provided by RefSeq, Sep 2015].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer 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##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000336868.8/ ENSP00000337443.3
            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                AC015884.15        29255-29272         c
            19-429              CX786695.1         1-411
            430-949             AW752727.1         1-520
            950-1791            BC063828.1         187-1028
            1792-3045           AC087392.10        110334-111587
FEATURES             Location/Qualifiers
     source          1..3045
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.3"
     gene            1..3045
                     /gene="NXN"
                     /gene_synonym="NRX; RRS2; TRG-4"
                     /note="nucleoredoxin"
                     /db_xref="GeneID:64359"
                     /db_xref="HGNC:HGNC:18008"
                     /db_xref="MIM:612895"
     exon            1..458
                     /gene="NXN"
                     /gene_synonym="NRX; RRS2; TRG-4"
                     /inference="alignment:Splign:2.1.0"
     CDS             99..1406
                     /gene="NXN"
                     /gene_synonym="NRX; RRS2; TRG-4"
                     /EC_number="1.8.1.8"
                     /note="isoform 1 is encoded by transcript variant 1;
                     nucleoredoxin 1"
                     /codon_start=1
                     /product="nucleoredoxin isoform 1"
                     /protein_id="NP_071908.2"
                     /db_xref="CCDS:CCDS10998.1"
                     /db_xref="GeneID:64359"
                     /db_xref="HGNC:HGNC:18008"
                     /db_xref="MIM:612895"
                     /translation="MSGFLEELLGEKLVTGGGEEVDVHSLGARGISLLGLYFGCSLSA
                     PCAQLSASLAAFYGRLRGDAAAGPGPGAGAGAAAEPEPRRRLEIVFVSSDQDQRQWQD
                     FVRDMPWLALPYKEKHRKLKLWNKYRISNIPSLIFLDATTGKVVCRNGLLVIRDDPEG
                     LEFPWGPKPFREVIAGPLLRNNGQSLESSSLEGSHVGVYFSAHWCPPCRSLTRVLVES
                     YRKIKEAGQNFEIIFVSADRSEESFKQYFSEMPWLAVPYTDEARRSRLNRLYGIQGIP
                     TLIMLDPQGEVITRQGRVEVLNDEDCREFPWHPKPVLELSDSNAAQLNEGPCLVLFVD
                     SEDDGESEAAKQLIQPIAEKIIAKYKAKEEEAPLLFFVAGEDDMTDSLRDYTNLPEAA
                     PLLTILDMSARAKYVMDVEEITPAIVEAFVNDFLAEKLKPEPI"
     exon            459..576
                     /gene="NXN"
                     /gene_synonym="NRX; RRS2; TRG-4"
                     /inference="alignment:Splign:2.1.0"
     exon            577..710
                     /gene="NXN"
                     /gene_synonym="NRX; RRS2; TRG-4"
                     /inference="alignment:Splign:2.1.0"
     exon            711..811
                     /gene="NXN"
                     /gene_synonym="NRX; RRS2; TRG-4"
                     /inference="alignment:Splign:2.1.0"
     exon            812..918
                     /gene="NXN"
                     /gene_synonym="NRX; RRS2; TRG-4"
                     /inference="alignment:Splign:2.1.0"
     exon            919..1098
                     /gene="NXN"
                     /gene_synonym="NRX; RRS2; TRG-4"
                     /inference="alignment:Splign:2.1.0"
     exon            1099..1223
                     /gene="NXN"
                     /gene_synonym="NRX; RRS2; TRG-4"
                     /inference="alignment:Splign:2.1.0"
     exon            1224..3045
                     /gene="NXN"
                     /gene_synonym="NRX; RRS2; TRG-4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2985..2990
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NXN"
                     /gene_synonym="NRX; RRS2; TRG-4"
                     /note="hexamer: AATAAA"
     polyA_site      3010
                     /gene="NXN"
                     /gene_synonym="NRX; RRS2; TRG-4"
                     /note="major polyA site"
     polyA_site      3045
                     /gene="NXN"
                     /gene_synonym="NRX; RRS2; TRG-4"
ORIGIN      
        1 gctctcccca gcgcctgccg ccgacgccgc cgcctcctcc cgccgcgcgg accgtggagc
       61 ggggtcgcag ccgcctgccc gccctgcggt gggccaggat gtcgggcttc ctggaggagc
      121 tgctcggcga gaagctggtg acgggcggcg gcgaggaggt ggacgtgcac tcgctgggcg
      181 cccgcggcat ctcgctgctg ggtctctact tcggctgcag cctcagcgcc ccctgcgcgc
      241 agctcagcgc cagcctggcc gccttctacg ggcgcctgcg gggggacgcg gcggccgggc
      301 cggggccggg agcgggggcc ggggcggcgg cggagcccga gccgcggcgg cgcctggaga
      361 tcgtcttcgt gtcctcggac caggaccagc ggcagtggca ggacttcgtg cgggacatgc
      421 cgtggctggc gctgccctac aaggagaagc acaggaagct caaactttgg aacaaatacc
      481 gaatttccaa cattccatca ctaatattcc tcgacgccac cactgggaag gttgtgtgca
      541 ggaacgggct gctggtgatc cgagatgacc cagaaggtct ggagttcccc tggggaccga
      601 aacccttcag ggaagtcatt gcagggccct tgcttagaaa caatgggcag tctctggaga
      661 gcagcagcct ggaggggtct cacgtgggcg tctatttctc cgcacattgg tgtccgccct
      721 gccgaagcct cacccgggtc ctggtggaat cctaccggaa gatcaaggag gcaggccaga
      781 acttcgagat catcttcgtt agtgcagaca ggtcggagga gtccttcaaa cagtacttca
      841 gtgagatgcc ctggctcgcc gtcccctaca cggatgaggc ccggcggtcg cgcctcaacc
      901 ggctgtacgg aatccaaggc atccccacgc tcatcatgct ggacccgcag ggcgaggtga
      961 tcacgcggca ggggcgggtg gaggtgctga acgacgagga ctgccgggag ttcccctggc
     1021 accccaagcc cgtgctggag ctctccgact ccaacgccgc gcagcttaac gagggcccct
     1081 gcctcgtcct ttttgtagat tctgaggatg acggagagtc cgaggcggcc aagcagctga
     1141 ttcagccgat agctgagaaa atcattgcca agtacaaagc caaagaggag gaggcacccc
     1201 ttctgttctt cgtagccggg gaggatgaca tgactgactc cctgcgagat tacaccaacc
     1261 tgcctgaggc tgcccctttg ctcaccatcc tggacatgtc agcccgggcc aagtacgtga
     1321 tggacgtgga ggagatcacc cccgccatcg tggaggcctt tgtgaatgac ttcctagcag
     1381 agaagctcaa accggagccc atctagcgtg gctccggcct cctgagacgt tatttaaaac
     1441 tcagccttct cctcctcccc ctccttcctt ccgcccttgg acttacccag cgtgccccga
     1501 atcccaccac ccaagtgtcc agcctctctg tggtgccttg tttctgcagt aaactcctca
     1561 gccagcaccc tggggtgtgg aatcagcagc ggcagagtcc accgtgtttg gagactctgt
     1621 ttgggagcac gggatggccg ggggcccggc cagagcgggg ctgcatggct ttcgcaaagt
     1681 cactagcttt tggtgaagga tctgccaggg tgtcctgggc agagtgagcg tggagggccg
     1741 gtgggtcccg ctcgggctct gactctgacg tcggcacaca cggccccgga cggccagagg
     1801 ggaaccgccg ggtgacacct gcgtggaggc tgagctgaga aagggcctcc gcttagagct
     1861 gcgggtgagg acgtcctttt ctaagcaaca cagtcttcct cggtctgaga gaaaagcagc
     1921 ccactcttgt gttctcaggc aggggatctc caaatgcaaa aggaagcttg tagaggtttt
     1981 ttgggtgaga agaaaaatgt agctaaggta atggttcata tcatacaaac agctcccacg
     2041 atcctgaaat tctgttaacg aatccttctc tttggacatc ttcccaagaa acttagccct
     2101 gagtcctagg aggagcacct ctgcaccagc acggacctct cgctccaccc agctctgtgc
     2161 ccaaggcccc tgatctctgc tgaggtgccc acacccacgt tcgatcaccc ctgccattcc
     2221 cttttatttt cttttttttg agatggagtc ttgctctgtc gcccaggctg gagtgcagtg
     2281 gcaccatctt ggctcacttc aacctccgcc cccaaggttc aagtgattct cctgcctcag
     2341 cctcccgagt agctgggatt acaggcaccc gccaccgtac ctggctaatt tttgtatttt
     2401 tagtagagat ggggtttcac catgttggcc aggctggtct cgaactcctg acctcaggtg
     2461 atccacccgc ctcggcctcc caaagtgctg ggattacagg cgtgagccgc cgtgcccggc
     2521 ccccttttct tttcaaagca gaactacaaa gatgagaaat taccagaagc ctcgcctttt
     2581 cctaagcacc agcggaagga gctgtgcccc gggatggagt gagggtggag ggcgcgtcag
     2641 ccacgggtgg gccttgtgtc gccttgtatc ggcccaggta ggttgttggc ctcttacttg
     2701 ggctgacctg acccccgaaa gagaaacaga caactctgtt ctcaggattg gggatggacg
     2761 gcttcggcca agcgttttag cctcattcac tcaggcccca ctcagcactc tgccagccaa
     2821 gaccattgat ttggaaaatc cggtccccac ccgctaatga gctgttgaca ctgttgttcc
     2881 ttgctgaatt ggattgttga cttgtagttc agaggcgtac aactagttgg cgattagact
     2941 tgttatgtga tgttaccagc ctgaaatgcg atcaccccgt aggaaataaa gcaggcatct
     3001 ctggacctca tccaccctgg gcctctgctg tccttgatca caaaa
//
