LOCUS       NM_024844               2133 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens nucleoporin 85 (NUP85), transcript variant 1, mRNA.
ACCESSION   NM_024844
VERSION     NM_024844.5
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 2133)
  AUTHORS   Liu,X., Ding,Z., Wu,H., Ma,J. and Lu,J.
  TITLE     [Analysis of correlation between high expression of nucleoporin 85
            (NUP85) and immune cell infiltration in hepatocellular carcinoma]
  JOURNAL   Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi 40 (6), 508-519 (2024)
   PUBMED   38952090
  REMARK    GeneRIF: [Analysis of correlation between high expression of
            nucleoporin 85 (NUP85) and immune cell infiltration in
            hepatocellular carcinoma].
REFERENCE   2  (bases 1 to 2133)
  AUTHORS   Gambadauro,A., Mangano,G.D., Galletta,K., Granata,F., Riva,A.,
            Massella,L., Guzzo,I., Farello,G., Scorrano,G., Di Francesco,L., Di
            Donato,G., Ianni,C., Di Ludovico,A., La Bella,S., Striano,P.,
            Efthymiou,S., Houlden,H., Nardello,R. and Chimenz,R.
  TITLE     NUP85 as a Neurodevelopmental Gene: From Podocyte to Neuron
  JOURNAL   Genes (Basel) 14 (12), 2143 (2023)
   PUBMED   38136965
  REMARK    GeneRIF: NUP85 as a Neurodevelopmental Gene: From Podocyte to
            Neuron.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2133)
  AUTHORS   Qin,Y., Huttlin,E.L., Winsnes,C.F., Gosztyla,M.L., Wacheul,L.,
            Kelly,M.R., Blue,S.M., Zheng,F., Chen,M., Schaffer,L.V., Licon,K.,
            Backstrom,A., Vaites,L.P., Lee,J.J., Ouyang,W., Liu,S.N., Zhang,T.,
            Silva,E., Park,J., Pitea,A., Kreisberg,J.F., Gygi,S.P., Ma,J.,
            Harper,J.W., Yeo,G.W., Lafontaine,D.L.J., Lundberg,E. and Ideker,T.
  TITLE     A multi-scale map of cell structure fusing protein images and
            interactions
  JOURNAL   Nature 600 (7889), 536-542 (2021)
   PUBMED   34819669
REFERENCE   4  (bases 1 to 2133)
  AUTHORS   Ravindran,E., Juhlen,R., Vieira-Vieira,C.H., Ha,T., Salzberg,Y.,
            Fichtman,B., Luise-Becker,L., Martins,N., Picker-Minh,S., Bessa,P.,
            Arts,P., Jackson,M.R., Taranath,A., Kamien,B., Barnett,C., Li,N.,
            Tarabykin,V., Stoltenburg-Didinger,G., Harel,A., Selbach,M.,
            Dickmanns,A., Fahrenkrog,B., Hu,H., Scott,H. and Kaindl,A.M.
  TITLE     Expanding the phenotype of NUP85 mutations beyond nephrotic
            syndrome to primary autosomal recessive microcephaly and Seckel
            syndrome spectrum disorders
  JOURNAL   Hum Mol Genet 30 (22), 2068-2081 (2021)
   PUBMED   34170319
  REMARK    GeneRIF: Expanding the phenotype of NUP85 mutations beyond
            nephrotic syndrome to primary autosomal recessive microcephaly and
            Seckel syndrome spectrum disorders.
REFERENCE   5  (bases 1 to 2133)
  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 2133)
  AUTHORS   Zuccolo,M., Alves,A., Galy,V., Bolhy,S., Formstecher,E., Racine,V.,
            Sibarita,J.B., Fukagawa,T., Shiekhattar,R., Yen,T. and Doye,V.
  TITLE     The human Nup107-160 nuclear pore subcomplex contributes to proper
            kinetochore functions
  JOURNAL   EMBO J 26 (7), 1853-1864 (2007)
   PUBMED   17363900
REFERENCE   7  (bases 1 to 2133)
  AUTHORS   Glavy,J.S., Krutchinsky,A.N., Cristea,I.M., Berke,I.C., Boehmer,T.,
            Blobel,G. and Chait,B.T.
  TITLE     Cell-cycle-dependent phosphorylation of the nuclear pore Nup107-160
            subcomplex
  JOURNAL   Proc Natl Acad Sci U S A 104 (10), 3811-3816 (2007)
   PUBMED   17360435
REFERENCE   8  (bases 1 to 2133)
  AUTHORS   Terashima,Y., Onai,N., Murai,M., Enomoto,M., Poonpiriya,V.,
            Hamada,T., Motomura,K., Suwa,M., Ezaki,T., Haga,T., Kanegasaki,S.
            and Matsushima,K.
  TITLE     Pivotal function for cytoplasmic protein FROUNT in CCR2-mediated
            monocyte chemotaxis
  JOURNAL   Nat Immunol 6 (8), 827-835 (2005)
   PUBMED   15995708
REFERENCE   9  (bases 1 to 2133)
  AUTHORS   Loiodice,I., Alves,A., Rabut,G., Van Overbeek,M., Ellenberg,J.,
            Sibarita,J.B. and Doye,V.
  TITLE     The entire Nup107-160 complex, including three new members, is
            targeted as one entity to kinetochores in mitosis
  JOURNAL   Mol Biol Cell 15 (7), 3333-3344 (2004)
   PUBMED   15146057
REFERENCE   10 (bases 1 to 2133)
  AUTHORS   Cronshaw,J.M., Krutchinsky,A.N., Zhang,W., Chait,B.T. and
            Matunis,M.J.
  TITLE     Proteomic analysis of the mammalian nuclear pore complex
  JOURNAL   J Cell Biol 158 (5), 915-927 (2002)
   PUBMED   12196509
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC424627.1, AF498261.1,
            DA375719.1, AC022211.5 and BM973048.1.
            
            On Nov 22, 2018 this sequence version replaced NM_024844.4.
            
            Summary: This gene encodes a protein component of the Nup107-160
            subunit of the nuclear pore complex. Nuclear pore complexes are
            embedded in the nuclear envelope and promote bidirectional
            transport of macromolecules between the cytoplasm and nucleus. The
            encoded protein can also bind to the C-terminus of chemokine (C-C
            motif) receptor 2 (CCR2) and promote chemotaxis of monocytes,
            thereby participating in the inflammatory response. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Dec 2014].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and 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 :: BC000697.2, SRR1660807.260095.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000245544.9/ ENSP00000245544.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-83                DC424627.1         233-315
            84-817              AF498261.1         1-734
            818-818             DA375719.1         152-152
            819-1822            AF498261.1         736-1739
            1823-1850           AC022211.5         124422-124449
            1851-2054           AF498261.1         1768-1971
            2055-2133           BM973048.1         18-96               c
FEATURES             Location/Qualifiers
     source          1..2133
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.1"
     gene            1..2133
                     /gene="NUP85"
                     /gene_synonym="FROUNT; NPHS17; Nup75"
                     /note="nucleoporin 85"
                     /db_xref="GeneID:79902"
                     /db_xref="HGNC:HGNC:8734"
                     /db_xref="MIM:170285"
     exon            1..116
                     /gene="NUP85"
                     /gene_synonym="FROUNT; NPHS17; Nup75"
                     /inference="alignment:Splign:2.1.0"
     CDS             84..2054
                     /gene="NUP85"
                     /gene_synonym="FROUNT; NPHS17; Nup75"
                     /note="isoform 1 is encoded by transcript variant 1;
                     nuclear pore complex protein Nup85; nucleoporin Nup75;
                     nucleoporin 85kDa; nucleoporin Nup85"
                     /codon_start=1
                     /product="nuclear pore complex protein Nup85 isoform 1"
                     /protein_id="NP_079120.1"
                     /db_xref="CCDS:CCDS32730.1"
                     /db_xref="GeneID:79902"
                     /db_xref="HGNC:HGNC:8734"
                     /db_xref="MIM:170285"
                     /translation="MEELDGEPTVTLIPGVNSKKNQMYFDWGPGEMLVCETSFNKKEK
                     SEMVPSCPFIYIIRKDVDVYSQILRKLFNESHGIFLGLQRIDEELTGKSRKSQLVRVS
                     KNYRSVIRACMEEMHQVAIAAKDPANGRQFSSQVSILSAMELIWNLCEILFIEVAPAG
                     PLLLHLLDWVRLHVCEVDSLSADVLGSENPSKHDSFWNLVTILVLQGRLDEARQMLSK
                     EADASPASAGICRIMGDLMRTMPILSPGNTQTLTELELKWQHWHEECERYLQDSTFAT
                     SPHLESLLKIMLGDEAALLEQKELLSNWYHFLVTRLLYSNPTVKPIDLHYYAQSSLDL
                     FLGGESSPEPLDNILLAAFEFDIHQVIKECSIALSNWWFVAHLTDLLDHCKLLQSHNL
                     YFGSNMREFLLLEYASGLFAHPSLWQLGVDYFDYCPELGRVSLELHIERIPLNTEQKA
                     LKVLRICEQRQMTEQVRSICKILAMKAVRNNRLGSALSWSIRAKDAAFATLVSDRFLR
                     DYCERGCFSDLDLIDNLGPAMMLSDRLTFLGKYREFHRMYGEKRFADAASLLLSLMTS
                     RIAPRSFWMTLLTDALPLLEQKQVIFSAEQTYELMRCLEDLTSRRPVHGESDTEQLQD
                     DDIETTKVEMLRLSLARNLARAIIREGSLEGS"
     exon            117..210
                     /gene="NUP85"
                     /gene_synonym="FROUNT; NPHS17; Nup75"
                     /inference="alignment:Splign:2.1.0"
     exon            211..373
                     /gene="NUP85"
                     /gene_synonym="FROUNT; NPHS17; Nup75"
                     /inference="alignment:Splign:2.1.0"
     exon            374..444
                     /gene="NUP85"
                     /gene_synonym="FROUNT; NPHS17; Nup75"
                     /inference="alignment:Splign:2.1.0"
     exon            445..488
                     /gene="NUP85"
                     /gene_synonym="FROUNT; NPHS17; Nup75"
                     /inference="alignment:Splign:2.1.0"
     exon            489..558
                     /gene="NUP85"
                     /gene_synonym="FROUNT; NPHS17; Nup75"
                     /inference="alignment:Splign:2.1.0"
     exon            559..680
                     /gene="NUP85"
                     /gene_synonym="FROUNT; NPHS17; Nup75"
                     /inference="alignment:Splign:2.1.0"
     exon            681..815
                     /gene="NUP85"
                     /gene_synonym="FROUNT; NPHS17; Nup75"
                     /inference="alignment:Splign:2.1.0"
     exon            816..938
                     /gene="NUP85"
                     /gene_synonym="FROUNT; NPHS17; Nup75"
                     /inference="alignment:Splign:2.1.0"
     exon            939..1070
                     /gene="NUP85"
                     /gene_synonym="FROUNT; NPHS17; Nup75"
                     /inference="alignment:Splign:2.1.0"
     exon            1071..1177
                     /gene="NUP85"
                     /gene_synonym="FROUNT; NPHS17; Nup75"
                     /inference="alignment:Splign:2.1.0"
     exon            1178..1261
                     /gene="NUP85"
                     /gene_synonym="FROUNT; NPHS17; Nup75"
                     /inference="alignment:Splign:2.1.0"
     exon            1262..1327
                     /gene="NUP85"
                     /gene_synonym="FROUNT; NPHS17; Nup75"
                     /inference="alignment:Splign:2.1.0"
     exon            1328..1479
                     /gene="NUP85"
                     /gene_synonym="FROUNT; NPHS17; Nup75"
                     /inference="alignment:Splign:2.1.0"
     exon            1480..1597
                     /gene="NUP85"
                     /gene_synonym="FROUNT; NPHS17; Nup75"
                     /inference="alignment:Splign:2.1.0"
     exon            1598..1698
                     /gene="NUP85"
                     /gene_synonym="FROUNT; NPHS17; Nup75"
                     /inference="alignment:Splign:2.1.0"
     exon            1699..1850
                     /gene="NUP85"
                     /gene_synonym="FROUNT; NPHS17; Nup75"
                     /inference="alignment:Splign:2.1.0"
     exon            1851..1952
                     /gene="NUP85"
                     /gene_synonym="FROUNT; NPHS17; Nup75"
                     /inference="alignment:Splign:2.1.0"
     exon            1953..2133
                     /gene="NUP85"
                     /gene_synonym="FROUNT; NPHS17; Nup75"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2110..2115
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NUP85"
                     /gene_synonym="FROUNT; NPHS17; Nup75"
                     /note="hexamer: AATAAA"
     polyA_site      2133
                     /gene="NUP85"
                     /gene_synonym="FROUNT; NPHS17; Nup75"
                     /note="major polyA site"
ORIGIN      
        1 gtctcgcagc cagctctgag cgggaggcct gagcgggaag cattggcgtc cgagcgactt
       61 ctaggagcct ggggttcggc gctatggagg agctcgatgg cgagccaaca gtcactttga
      121 ttccaggcgt gaattccaag aagaaccaaa tgtattttga ctggggtcca ggggagatgc
      181 tggtatgtga aacctccttc aacaaaaaag aaaaatcaga gatggtgcca agttgcccct
      241 ttatctatat catccgtaag gatgtagatg tttactctca aatcttgaga aaactcttca
      301 atgaatccca tggaatcttt ctgggcctcc agagaattga cgaagagttg actggaaaat
      361 ccagaaaatc tcaattggtt cgagtgagta aaaactaccg atcagtcatc agagcatgta
      421 tggaggaaat gcaccaggtt gcaattgctg ctaaagatcc agccaatggc cgccagttca
      481 gcagccaggt ctccattttg tcagcaatgg agctcatctg gaacctgtgt gagattcttt
      541 ttattgaagt ggccccagct ggccctctcc tcctccatct ccttgactgg gtccggctcc
      601 atgtgtgcga ggtggacagt ttgtcggcag atgttctggg cagtgagaat ccaagcaaac
      661 atgacagctt ctggaacttg gtgaccatct tggtgctgca gggccggctg gatgaggccc
      721 gacagatgct ctccaaggaa gccgatgcca gccccgcctc tgcaggcata tgccgaatca
      781 tgggggacct gatgaggaca atgcccattc ttagtcccgg gaacacccag acactgacag
      841 agctggagct gaagtggcag cactggcacg aggaatgtga gcggtacctc caggacagca
      901 cattcgccac cagccctcac ctggagtctc tcttgaagat tatgctggga gacgaagctg
      961 ccttgttaga gcagaaggaa cttctgagta attggtatca tttcctagtg actcggctct
     1021 tgtactccaa tcccacagta aaacccattg atctgcacta ctatgcccag tccagcctgg
     1081 acctgtttct gggaggtgag agcagcccag aacccctgga caacatcttg ttggcagcct
     1141 ttgagtttga catccatcaa gtaatcaaag agtgcagcat cgccctgagc aactggtggt
     1201 ttgtggccca cctgacagac ctgctggacc actgcaagct cctccagtca cacaacctct
     1261 atttcggttc caacatgaga gagttcctcc tgctggagta cgcctcggga ctgtttgctc
     1321 atcccagcct gtggcagctg ggggtcgatt actttgatta ctgccccgag ctgggccgag
     1381 tctccctgga gctgcacatt gagcggatac ctctgaacac cgagcagaaa gccctgaagg
     1441 tgctgcggat ctgtgagcag cggcagatga ctgaacaagt tcgcagcatt tgtaagatct
     1501 tagccatgaa agccgtccgc aacaatcgcc tgggttctgc cctctcttgg agcatccgtg
     1561 ctaaggatgc cgcctttgcc acgctcgtgt cagacaggtt cctcagggat tactgtgagc
     1621 gaggctgctt ttctgatttg gatctcattg acaacctggg gccagccatg atgctcagtg
     1681 accgactgac attcctggga aagtatcgcg agttccaccg tatgtacggg gagaagcgtt
     1741 ttgccgacgc agcttctctc cttctgtcct tgatgacgtc tcggattgcc cctcggtctt
     1801 tctggatgac tctgctgaca gacgccttgc cccttttgga acagaaacag gtgattttct
     1861 cagcagaaca gacttatgag ttgatgcggt gtctggagga cttgacgtca agaagacctg
     1921 tgcatggaga atctgatacc gagcagctcc aggatgatga catagagacc accaaggtgg
     1981 aaatgctgag actttctctg gcacgaaatc ttgctcgggc aattataaga gaaggctcac
     2041 tggaaggttc ctgagaactg cttcaatgtg gtatctttgt atggcaatgt atatagattt
     2101 ttttaaaaga ataaatgttg ttttgcaaat gta
//
