LOCUS       NM_017426               2249 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens nucleoporin 54 (NUP54), transcript variant 1, mRNA.
ACCESSION   NM_017426
VERSION     NM_017426.4
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 2249)
  AUTHORS   Tang,C., Zhuang,H., Wang,W., Wang,Q., Ma,X., Wang,B., Zhang,Z.,
            Jiang,J., Xie,Z., Tan,W., Yang,L., Liu,S., Hua,Y., Xiao,Y.,
            Ding,B., Chen,Y. and Shang,C.
  TITLE     CircNUP54 promotes hepatocellular carcinoma progression via
            facilitating HuR cytoplasmic export and stabilizing BIRC3 mRNA
  JOURNAL   Cell Death Dis 15 (3), 191 (2024)
   PUBMED   38443362
  REMARK    GeneRIF: CircNUP54 promotes hepatocellular carcinoma progression
            via facilitating HuR cytoplasmic export and stabilizing BIRC3 mRNA.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2249)
  AUTHORS   Harrer,P., Schalk,A., Shimura,M., Baer,S., Calmels,N., Spitz,M.A.,
            Warde,M.A., Schaefer,E., Kittke,V.M.S., Dincer,Y., Wagner,M.,
            Dzinovic,I., Berutti,R., Sato,T., Shirakawa,T., Okazaki,Y.,
            Murayama,K., Oexle,K., Prokisch,H., Mall,V., Melcak,I.,
            Winkelmann,J. and Zech,M.
  TITLE     Recessive NUP54 Variants Underlie Early-Onset Dystonia with
            Striatal Lesions
  JOURNAL   Ann Neurol 93 (2), 330-335 (2023)
   PUBMED   36333996
  REMARK    GeneRIF: Recessive NUP54 Variants Underlie Early-Onset Dystonia
            with Striatal Lesions.
REFERENCE   3  (bases 1 to 2249)
  AUTHORS   Zhou,Y., Liu,Y., Gupta,S., Paramo,M.I., Hou,Y., Mao,C., Luo,Y.,
            Judd,J., Wierbowski,S., Bertolotti,M., Nerkar,M., Jehi,L.,
            Drayman,N., Nicolaescu,V., Gula,H., Tay,S., Randall,G., Wang,P.,
            Lis,J.T., Feschotte,C., Erzurum,S.C., Cheng,F. and Yu,H.
  TITLE     A comprehensive SARS-CoV-2-human protein-protein interactome
            reveals COVID-19 pathobiology and potential host therapeutic
            targets
  JOURNAL   Nat Biotechnol 41 (1), 128-139 (2023)
   PUBMED   36217030
REFERENCE   4  (bases 1 to 2249)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   5  (bases 1 to 2249)
  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   6  (bases 1 to 2249)
  AUTHORS   Stoffler,D., Fahrenkrog,B. and Aebi,U.
  TITLE     The nuclear pore complex: from molecular architecture to functional
            dynamics
  JOURNAL   Curr Opin Cell Biol 11 (3), 391-401 (1999)
   PUBMED   10395558
  REMARK    Review article
REFERENCE   7  (bases 1 to 2249)
  AUTHORS   Bodoor,K., Shaikh,S., Enarson,P., Chowdhury,S., Salina,D.,
            Raharjo,W.H. and Burke,B.
  TITLE     Function and assembly of nuclear pore complex proteins
  JOURNAL   Biochem Cell Biol 77 (4), 321-329 (1999)
   PUBMED   10546895
  REMARK    Review article
REFERENCE   8  (bases 1 to 2249)
  AUTHORS   Popov,S., Rexach,M., Ratner,L., Blobel,G. and Bukrinsky,M.
  TITLE     Viral protein R regulates docking of the HIV-1 preintegration
            complex to the nuclear pore complex
  JOURNAL   J Biol Chem 273 (21), 13347-13352 (1998)
   PUBMED   9582382
REFERENCE   9  (bases 1 to 2249)
  AUTHORS   Hu,T., Guan,T. and Gerace,L.
  TITLE     Molecular and functional characterization of the p62 complex, an
            assembly of nuclear pore complex glycoproteins
  JOURNAL   J Cell Biol 134 (3), 589-601 (1996)
   PUBMED   8707840
REFERENCE   10 (bases 1 to 2249)
  AUTHORS   Finlay,D.R., Meier,E., Bradley,P., Horecka,J. and Forbes,D.J.
  TITLE     A complex of nuclear pore proteins required for pore function
  JOURNAL   J Cell Biol 114 (1), 169-183 (1991)
   PUBMED   2050741
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA577078.1, BC012559.1,
            AF157322.1 and AI580839.1.
            
            On Nov 22, 2018 this sequence version replaced NM_017426.3.
            
            Summary: The nuclear envelope creates distinct nuclear and
            cytoplasmic compartments in eukaryotic cells. It consists of two
            concentric membranes perforated by nuclear pores, large protein
            complexes that form aqueous channels to regulate the flow of
            macromolecules between the nucleus and the cytoplasm. These
            complexes are composed of at least 100 different polypeptide
            subunits, many of which belong to the nucleoporin family. This gene
            encodes a member of the phe-gly (FG) repeat-containing nucleoporin
            subset. Multiple alternatively spliced transcript variants have
            been found for this gene. [provided by RefSeq, Jun 2013].
            
            Transcript Variant: This variant (1) encodes the longer 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 :: AK001517.1, BC012559.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000264883.8/ ENSP00000264883.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-76                DA577078.1         119-194
            77-1502             BC012559.1         92-1517
            1503-1937           AF157322.1         1499-1933
            1938-2121           BC012559.1         1953-2136
            2122-2249           AI580839.1         15-142              c
FEATURES             Location/Qualifiers
     source          1..2249
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q21.1"
     gene            1..2249
                     /gene="NUP54"
                     /gene_synonym="DYT37"
                     /note="nucleoporin 54"
                     /db_xref="GeneID:53371"
                     /db_xref="HGNC:HGNC:17359"
                     /db_xref="MIM:607607"
     exon            1..90
                     /gene="NUP54"
                     /gene_synonym="DYT37"
                     /inference="alignment:Splign:2.1.0"
     CDS             24..1547
                     /gene="NUP54"
                     /gene_synonym="DYT37"
                     /note="isoform 1 is encoded by transcript variant 1;
                     nucleoporin p54; 54 kDa nucleoporin; nucleoporin 54kD;
                     nucleoporin 54kDa"
                     /codon_start=1
                     /product="nucleoporin p54 isoform 1"
                     /protein_id="NP_059122.2"
                     /db_xref="CCDS:CCDS3576.1"
                     /db_xref="GeneID:53371"
                     /db_xref="HGNC:HGNC:17359"
                     /db_xref="MIM:607607"
                     /translation="MAFNFGAPSGTSGTAAATAAPAGGFGGFGTTSTTAGSAFSFSAP
                     TNTGTTGLFGGTQNKGFGFGTGFGTTTGTSTGLGTGLGTGLGFGGFNTQQQQQTTLGG
                     LFSQPTQAPTQSNQLINTASALSAPTLLGDERDAILAKWNQLQAFWGTGKGYFNNNIP
                     PVEFTQENPFCRFKAVGYSCMPSNKDEDGLVVLVFNKKETEIRSQQQQLVESLHKVLG
                     GNQTLTVNVEGTKTLPDDQTEVVIYVVERSPNGTSRRVPATTLYAHFEQANIKTQLQQ
                     LGVTLSMTRTELSPAQIKQLLQNPPAGVDPIIWEQAKVDNPDSEKLIPVPMVGFKELL
                     RRLKVQDQMTKQHQTRLDIISEDISELQKNQTTSVAKIAQYKRKLMDLSHRTLQVLIK
                     QEIQRKSGYAIQADEEQLRVQLDTIQGELNAPTQFKGRLNELMSQIRMQNHFGAVRSE
                     ERYYIDADLLREIKQHLKQQQEGLSHLISIIKDDLEDIKLVEHGLNETIHIRGGVFS"
     exon            91..174
                     /gene="NUP54"
                     /gene_synonym="DYT37"
                     /inference="alignment:Splign:2.1.0"
     exon            175..318
                     /gene="NUP54"
                     /gene_synonym="DYT37"
                     /inference="alignment:Splign:2.1.0"
     exon            319..545
                     /gene="NUP54"
                     /gene_synonym="DYT37"
                     /inference="alignment:Splign:2.1.0"
     exon            546..733
                     /gene="NUP54"
                     /gene_synonym="DYT37"
                     /inference="alignment:Splign:2.1.0"
     exon            734..930
                     /gene="NUP54"
                     /gene_synonym="DYT37"
                     /inference="alignment:Splign:2.1.0"
     exon            931..985
                     /gene="NUP54"
                     /gene_synonym="DYT37"
                     /inference="alignment:Splign:2.1.0"
     exon            986..1079
                     /gene="NUP54"
                     /gene_synonym="DYT37"
                     /inference="alignment:Splign:2.1.0"
     exon            1080..1187
                     /gene="NUP54"
                     /gene_synonym="DYT37"
                     /inference="alignment:Splign:2.1.0"
     exon            1188..1307
                     /gene="NUP54"
                     /gene_synonym="DYT37"
                     /inference="alignment:Splign:2.1.0"
     exon            1308..1418
                     /gene="NUP54"
                     /gene_synonym="DYT37"
                     /inference="alignment:Splign:2.1.0"
     exon            1419..2249
                     /gene="NUP54"
                     /gene_synonym="DYT37"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2025..2030
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NUP54"
                     /gene_synonym="DYT37"
                     /note="hexamer: AGTAAA"
     polyA_site      2045
                     /gene="NUP54"
                     /gene_synonym="DYT37"
     regulatory      2221..2226
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NUP54"
                     /gene_synonym="DYT37"
                     /note="hexamer: AATAAA"
     polyA_site      2249
                     /gene="NUP54"
                     /gene_synonym="DYT37"
                     /note="major polyA site"
ORIGIN      
        1 acttggtctc ctgctttcgc gacatggcct tcaattttgg ggctccctcg ggcacctccg
       61 gtaccgctgc agccaccgcg gcccccgcgg gtgggtttgg aggatttggg acaacatcta
      121 caactgcagg ttctgcattc agcttttctg ccccaactaa cacaggcact actggactct
      181 ttggtggtac tcagaacaaa ggttttggat ttggtactgg ttttggcaca acaacgggaa
      241 ctagtactgg tttaggtact ggtttgggaa ctggactggg atttggagga tttaatacac
      301 agcagcagca gcaaactaca ttaggtggtc tcttcagtca gcctacacaa gctcctaccc
      361 agtccaacca gctgataaat actgcgagtg ctctttctgc tccaacgctg ttgggagatg
      421 agagagatgc tattttggca aaatggaatc aactgcaggc cttttgggga acaggaaaag
      481 ggtatttcaa caataatatt ccgccagtgg aattcacaca agaaaatccc ttttgccgat
      541 ttaaggcagt aggttatagt tgcatgccca gtaataaaga tgaagatggg ctagtggttt
      601 tagttttcaa caaaaaagaa acagagattc gaagccaaca acaacagttg gtagaatcat
      661 tgcataaagt tttgggagga aaccagaccc ttactgtaaa tgtagagggc actaaaacat
      721 tgccagatga tcagacagaa gttgttattt atgttgttga gcgttcgcca aatggtactt
      781 caagaagagt tccagctaca acgctatatg cccattttga acaagccaat ataaaaacac
      841 aattgcagca acttggtgta accctttcta tgactagaac agaactttct cctgcacaga
      901 tcaaacagct tttacagaat cctcctgctg gtgttgatcc tattatctgg gaacaggcca
      961 aggtagataa ccctgattct gaaaagttaa ttcctgtacc aatggtgggt tttaaggaac
     1021 ttctccgaag actgaaggtt caagatcaga tgactaagca gcatcaaacc agattagata
     1081 tcatatctga agatattagt gagctacaaa agaatcaaac tacatctgta gccaaaattg
     1141 cacaatacaa gaggaaactc atggatcttt cccatagaac tttacaggtc ctaatcaaac
     1201 aggaaattca aaggaagagt ggttatgcca ttcaggctga tgaagagcag ttgcgagttc
     1261 agctggatac gattcagggt gaactaaatg cacctactca gttcaagggc cgactaaatg
     1321 aattgatgtc tcaaatcagg atgcagaatc attttggagc agtcagatct gaagaaaggt
     1381 attacataga tgcagatctg ttacgagaaa tcaagcagca tttgaaacaa caacaggaag
     1441 gccttagcca tttgattagc atcattaaag acgatctaga agatataaag ctggtcgaac
     1501 atggattgaa tgaaaccatc cacatcagag gtggtgtctt tagttgacag ttcacaaact
     1561 tgtgtaaagg tttgtgaaat gcatcttctt actgcatcag accttcctta agaatgaaac
     1621 cgaccacatg gagggaaaaa gaaaacaatt ctttcttgga ttggtttttt gagaagttta
     1681 ctgacaaatt actgttcatc aaatctgaaa tagtcacctc acagctcttc aaagaaaacc
     1741 tttgaaagat ttatatctaa aagctgtatt tactttaaaa gaagtgcata attaccaaaa
     1801 ttgtatgtac tattgtacat ttttacaaca gcattttctt aaacataatc tgtgtttaat
     1861 gattattgtc cattgagcct gtactctgct ttccatacca agtaaatatg aaataatcta
     1921 ctttgcacat aacagaacaa actataatta cttggctgtt ggagatttgt acttgagtat
     1981 aaatgtacac cagtttttgt atttgtgaac tcatctgtgg gaggagtaaa gaaaatccaa
     2041 aagcatttaa tgttttgttt ttgttctata aagatatgaa aatgtatttt tatattattt
     2101 tacttatttg gaatttacag agcacaccta agcaattagg atataacaaa actacttaac
     2161 catttttgca accattttgt tttttaagcc tttttatttc taaaaagatg aaaacttata
     2221 aataaattct taatttgtaa ttactttta
//
