LOCUS       NM_018087               4552 bp    mRNA    linear   PRI 29-OCT-2024
DEFINITION  Homo sapiens NDC1 transmembrane nucleoporin (NDC1), transcript
            variant 1, mRNA.
ACCESSION   NM_018087
VERSION     NM_018087.5
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 4552)
  AUTHORS   Smits,D.J., Dekker,J., Douben,H., Schot,R., Magee,H., Bakhtiari,S.,
            Koehler,K., Huebner,A., Schuelke,M., Darvish,H., Vosoogh,S.,
            Tafakhori,A., Jameie,M., Taghiabadi,E., Wilson,Y., Shah,M., van
            Slegtenhorst,M.A., Medici-van den Herik,E.G., van Ham,T.J.,
            Kruer,M.C. and Mancini,G.M.S.
  TITLE     Biallelic NDC1 variants that interfere with ALADIN binding are
            associated with neuropathy and triple A-like syndrome
  JOURNAL   HGG Adv 5 (4), 100327 (2024)
   PUBMED   39003500
  REMARK    GeneRIF: Biallelic NDC1 variants that interfere with ALADIN binding
            are associated with neuropathy and triple A-like syndrome.
REFERENCE   2  (bases 1 to 4552)
  AUTHORS   Liu,Y.P., Guo,G., Ren,M., Li,Y.R., Guo,D., She,J.J. and He,S.X.
  TITLE     NDC1 promotes hepatocellular carcinoma tumorigenesis by targeting
            BCAP31 to activate PI3K/AKT signaling
  JOURNAL   J Biochem Mol Toxicol 38 (2), e23647 (2024)
   PUBMED   38348718
  REMARK    GeneRIF: NDC1 promotes hepatocellular carcinoma tumorigenesis by
            targeting BCAP31 to activate PI3K/AKT signaling.
REFERENCE   3  (bases 1 to 4552)
  AUTHORS   Jiang,X.Y., Wang,L., Liu,Z.Y., Song,W.X., Zhou,M. and Xi,L.
  TITLE     TMEM48 promotes cell proliferation and invasion in cervical cancer
            via activation of the Wnt/beta-catenin pathway
  JOURNAL   J Recept Signal Transduct Res 41 (4), 371-377 (2021)
   PUBMED   32896205
  REMARK    GeneRIF: TMEM48 promotes cell proliferation and invasion in
            cervical cancer via activation of the Wnt/beta-catenin pathway.
REFERENCE   4  (bases 1 to 4552)
  AUTHORS   Akkafa,F., Koyuncu,I., Temiz,E., Dagli,H., Dilmec,F. and Akbas,H.
  TITLE     miRNA-mediated apoptosis activation through TMEM 48 inhibition in
            A549 cell line
  JOURNAL   Biochem Biophys Res Commun 503 (1), 323-329 (2018)
   PUBMED   29906465
  REMARK    GeneRIF: miR-421 can suppress TMEM48 so that leads the non-small
            cancer cell lines (A549) to apoptosis.
REFERENCE   5  (bases 1 to 4552)
  AUTHORS   Lai,T.H., Wu,Y.Y., Wang,Y.Y., Chen,M.F., Wang,P., Chen,T.M.,
            Wu,Y.N., Chiang,H.S., Kuo,P.L. and Lin,Y.H.
  TITLE     SEPT12-NDC1 Complexes Are Required for Mammalian Spermiogenesis
  JOURNAL   Int J Mol Sci 17 (11), 1911 (2016)
   PUBMED   27854341
  REMARK    GeneRIF: In mature human spermatozoa, SEPT12 and NDC1 are majorly
            colocalized in the centrosome regions; however, NDC1 is only
            slightly co-expressed with SEPT12 at the annulus of the sperm tail.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4552)
  AUTHORS   Lau,C.K., Delmar,V.A. and Forbes,D.J.
  TITLE     Topology of yeast Ndc1p: predictions for the human NDC1/NET3
            homologue
  JOURNAL   Anat Rec A Discov Mol Cell Evol Biol 288 (7), 681-694 (2006)
   PUBMED   16779818
  REMARK    GeneRIF: Human homologue NDC1/NET3 contains three FG repeats in the
            C-terminus, a feature of many nuclear pore proteins.
REFERENCE   7  (bases 1 to 4552)
  AUTHORS   Stavru,F., Hulsmann,B.B., Spang,A., Hartmann,E., Cordes,V.C. and
            Gorlich,D.
  TITLE     NDC1: a crucial membrane-integral nucleoporin of metazoan nuclear
            pore complexes
  JOURNAL   J Cell Biol 173 (4), 509-519 (2006)
   PUBMED   16702233
REFERENCE   8  (bases 1 to 4552)
  AUTHORS   Mansfeld,J., Guttinger,S., Hawryluk-Gara,L.A., Pante,N., Mall,M.,
            Galy,V., Haselmann,U., Muhlhausser,P., Wozniak,R.W., Mattaj,I.W.,
            Kutay,U. and Antonin,W.
  TITLE     The conserved transmembrane nucleoporin NDC1 is required for
            nuclear pore complex assembly in vertebrate cells
  JOURNAL   Mol Cell 22 (1), 93-103 (2006)
   PUBMED   16600873
REFERENCE   9  (bases 1 to 4552)
  AUTHORS   Nousiainen,M., Sillje,H.H., Sauer,G., Nigg,E.A. and Korner,R.
  TITLE     Phosphoproteome analysis of the human mitotic spindle
  JOURNAL   Proc Natl Acad Sci U S A 103 (14), 5391-5396 (2006)
   PUBMED   16565220
REFERENCE   10 (bases 1 to 4552)
  AUTHORS   Schirmer,E.C., Florens,L., Guan,T., Yates,J.R. 3rd and Gerace,L.
  TITLE     Nuclear membrane proteins with potential disease links found by
            subtractive proteomics
  JOURNAL   Science 301 (5638), 1380-1382 (2003)
   PUBMED   12958361
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC003082.2, AL049745.9 and AL354612.1.
            
            On Nov 24, 2018 this sequence version replaced NM_018087.4.
            
            Transcript Variant: This variant (1) represents the longest
            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 :: SRR14038192.1509546.1,
                                           SRR18074969.2807434.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000371429.4/ ENSP00000360483.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-495               BC003082.2         207-701
            496-496             AL049745.9         16080-16080
            497-2315            BC003082.2         703-2521
            2316-4552           AL354612.1         2345-4581
FEATURES             Location/Qualifiers
     source          1..4552
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p32.3"
     gene            1..4552
                     /gene="NDC1"
                     /gene_synonym="NET3; TMEM48"
                     /note="NDC1 transmembrane nucleoporin"
                     /db_xref="GeneID:55706"
                     /db_xref="HGNC:HGNC:25525"
                     /db_xref="MIM:610115"
     exon            1..92
                     /gene="NDC1"
                     /gene_synonym="NET3; TMEM48"
                     /inference="alignment:Splign:2.1.0"
     CDS             36..2060
                     /gene="NDC1"
                     /gene_synonym="NET3; TMEM48"
                     /note="isoform 1 is encoded by transcript variant 1;
                     nucleoporin NDC1; transmembrane protein 48; nuclear
                     division cycle 1 homolog"
                     /codon_start=1
                     /product="nucleoporin NDC1 isoform 1"
                     /protein_id="NP_060557.3"
                     /db_xref="CCDS:CCDS583.1"
                     /db_xref="GeneID:55706"
                     /db_xref="HGNC:HGNC:25525"
                     /db_xref="MIM:610115"
                     /translation="MATAVSRPCAGRSRDILWRVLGWRIVASIVWSVLFLPICTTVFI
                     IFSRIDLFHPIQWLSDSFSDLYSSYVIFYFLLLSVVIIIISIFNVEFYAVVPSIPCSR
                     LALIGKIIHPQQLMHSFIHAAMGMVMAWCAAVITQGQYSFLVVPCTGTNSFGSPAAQT
                     CLNEYHLFFLLTGAFMGYSYSLLYFVNNMNYLPFPIIQQYKFLRFRRSLLLLVKHSCV
                     ESLFLVRNFCILYYFLGYIPKAWISTAMNLHIDEQVHRPLDTVSGLLNLSLLYHVWLC
                     GVFLLTTWYVSWILFKIYATEAHVFPVQPPFAEGSDECLPKVLNSNPPPIIKYLALQD
                     LMLLSQYSPSRRQEVFSLSQPGGHPHNWTAISRECLNLLNGMTQKLILYQEAAATNGR
                     VSSSYPVEPKKLNSPEETAFQTPKSSQMPRPSVPPLVKTSLFSSKLSTPDVVSPFGTP
                     FGSSVMNRMAGIFDVNTCYGSPQSPQLIRRGPRLWTSASDQQMTEFSNPSPSTSISAE
                     GKTMRQPSVIYSWIQNKREQIKNFLSKRVLIMYFFSKHPEASIQAVFSDAQMHIWALE
                     GLSHLVAASFTEDRFGVVQTTLPAILNTLLTLQEAVDKYFKLPHASSKPPRISGSLVD
                     TSYKTLRFAFRASLKTAIYRITTTFGEHLNAVQASAEHQKRLQQFLEFKE"
     exon            93..213
                     /gene="NDC1"
                     /gene_synonym="NET3; TMEM48"
                     /inference="alignment:Splign:2.1.0"
     exon            214..315
                     /gene="NDC1"
                     /gene_synonym="NET3; TMEM48"
                     /inference="alignment:Splign:2.1.0"
     exon            316..490
                     /gene="NDC1"
                     /gene_synonym="NET3; TMEM48"
                     /inference="alignment:Splign:2.1.0"
     exon            491..629
                     /gene="NDC1"
                     /gene_synonym="NET3; TMEM48"
                     /inference="alignment:Splign:2.1.0"
     exon            630..738
                     /gene="NDC1"
                     /gene_synonym="NET3; TMEM48"
                     /inference="alignment:Splign:2.1.0"
     exon            739..790
                     /gene="NDC1"
                     /gene_synonym="NET3; TMEM48"
                     /inference="alignment:Splign:2.1.0"
     exon            791..926
                     /gene="NDC1"
                     /gene_synonym="NET3; TMEM48"
                     /inference="alignment:Splign:2.1.0"
     exon            927..1019
                     /gene="NDC1"
                     /gene_synonym="NET3; TMEM48"
                     /inference="alignment:Splign:2.1.0"
     exon            1020..1101
                     /gene="NDC1"
                     /gene_synonym="NET3; TMEM48"
                     /inference="alignment:Splign:2.1.0"
     exon            1102..1257
                     /gene="NDC1"
                     /gene_synonym="NET3; TMEM48"
                     /inference="alignment:Splign:2.1.0"
     exon            1258..1503
                     /gene="NDC1"
                     /gene_synonym="NET3; TMEM48"
                     /inference="alignment:Splign:2.1.0"
     exon            1504..1619
                     /gene="NDC1"
                     /gene_synonym="NET3; TMEM48"
                     /inference="alignment:Splign:2.1.0"
     exon            1620..1670
                     /gene="NDC1"
                     /gene_synonym="NET3; TMEM48"
                     /inference="alignment:Splign:2.1.0"
     exon            1671..1734
                     /gene="NDC1"
                     /gene_synonym="NET3; TMEM48"
                     /inference="alignment:Splign:2.1.0"
     exon            1735..1835
                     /gene="NDC1"
                     /gene_synonym="NET3; TMEM48"
                     /inference="alignment:Splign:2.1.0"
     exon            1836..1996
                     /gene="NDC1"
                     /gene_synonym="NET3; TMEM48"
                     /inference="alignment:Splign:2.1.0"
     exon            1997..4552
                     /gene="NDC1"
                     /gene_synonym="NET3; TMEM48"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4530..4535
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDC1"
                     /gene_synonym="NET3; TMEM48"
                     /note="hexamer: AATAAA"
     polyA_site      4552
                     /gene="NDC1"
                     /gene_synonym="NET3; TMEM48"
                     /note="major polyA site"
ORIGIN      
        1 ctcctgtacg ccctagacta ggggccgcca tctccatggc cacggccgtg agccggccct
       61 gcgccggcag gtcgcgggac atactgtggc gcgttttggg ctggaggata gttgcaagta
      121 ttgtttggtc agtgctattt ctacccatct gcaccacagt atttataatt ttcagcagga
      181 ttgatttgtt tcatcctata cagtggctgt ctgattcttt cagtgacctg tatagttcct
      241 atgtaatctt ttacttcctg ctgctgtcag tggtaataat aataataagt attttcaatg
      301 tggagttcta tgcagttgtg ccttctattc cttgctccag actagctctg atagggaaga
      361 tcattcatcc tcagcaactc atgcactcat ttattcatgc tgcaatggga atggtgatgg
      421 cctggtgtgc tgcagtgata acccagggcc agtacagctt tcttgtggtt ccctgcactg
      481 gtactaacag ctttggtagc cctgctgcgc aaacctgctt aaatgaatat catctttttt
      541 tcctactgac tggagcattt atgggctata gctatagcct cctgtatttt gttaacaaca
      601 tgaactatct tccatttccc atcatacagc aatacaagtt cttgcgtttt aggagatctc
      661 tgctcttatt agttaaacac agttgtgtgg aatcactgtt cctggttaga aatttctgca
      721 ttttatatta ttttcttggc tatattccca aagcttggat tagcactgct atgaaccttc
      781 acatagatga gcaggttcat aggccacttg acacagtgag tggcctctta aatctctcgt
      841 tactctacca tgtctggctg tgtggtgtct ttctcctgac gacttggtat gtctcatgga
      901 tactcttcaa aatctatgcc acagaggctc atgtgtttcc tgttcaacca ccatttgcag
      961 aagggtcaga tgagtgcctt ccaaaagtgt taaatagcaa tcctcccccc atcataaagt
     1021 atttagcctt gcaggacctg atgttgcttt ctcaatattc tccttcacga agacaagaag
     1081 ttttcagcct cagccaacca ggtggacatc cccacaattg gacagccatt tcaagggagt
     1141 gtttgaatct tttaaatggt atgactcaga aactgattct ctatcaagaa gctgctgcta
     1201 cgaatgggag agtgtcttca tcttacccag tggaacctaa gaaattaaat tctccagaag
     1261 aaactgcttt tcagacacca aaatctagcc agatgcctcg gccttcagtg ccaccattag
     1321 ttaaaacatc actgttttct tcaaaattat ctacacctga tgttgtgagc ccatttggga
     1381 ccccatttgg ctctagtgta atgaatcgga tggctggaat ttttgatgta aacacctgct
     1441 atgggtcacc gcaaagtcct cagctaataa gaagggggcc aagattgtgg acatcagctt
     1501 ctgatcagca aatgactgaa ttttctaatc cttctccatc tacctctatt agtgctgagg
     1561 gtaagacaat gagacaaccc agtgtgattt attcatggat tcagaataaa cgtgaacaga
     1621 ttaagaattt cttgtcaaaa cgggtgctga taatgtattt tttcagtaag cacccagagg
     1681 cctccattca ggctgttttt tcagatgccc aaatgcatat ttgggcatta gaaggtctgt
     1741 cgcacttagt agcagcatca tttacagagg atagatttgg agttgtccag acgacactac
     1801 cagctatcct taatactttg ttgacactgc aagaggcagt cgacaagtac tttaagcttc
     1861 ctcatgcttc cagtaaacca ccccggattt caggaagcct tgtggacact tcatataaaa
     1921 cattaagatt tgcattcaga gcatcactga aaactgccat ctatcgaata actactacat
     1981 ttggtgaaca tctgaatgct gtgcaagcat ctgcagaaca tcagaaaaga cttcaacagt
     2041 tcttggagtt caaagaatag ttaagtaata taaactgtgt tcattacact gctgatacaa
     2101 ctacagatgg gacagtaaat gttcagcatt cttggatcag aagaaaacgg actaattaga
     2161 tgcttccttt gtcgtggtgg ttgctttgaa aactatactt taatgggaga aatcatggaa
     2221 agaaattctc aacagaataa ctgaaaactg ccttttctgt accgattgct ttttgtgtgt
     2281 gtggtataat aaaatcttta ttcaatttta cagaagcatt gatggcagtc gaaatgtctc
     2341 tagctcatat aacttaatag taataactaa aaaactttta gaatttactt ttgaaaggag
     2401 ggaagccagt tctgaaatga gtataggttg atttcatagt cttcttaatt aagagtttag
     2461 ctctttgtaa actcaaaata cataaacttt ttaagtgtag tttcatttac tgaaggataa
     2521 aaatggtaac agtgcagcaa tattcacaaa aaatattgtc taacggacat attttgttaa
     2581 tctgttaggt tgggtttttg tttccaggga caaattaaat ttgtatgatt acccaaaaaa
     2641 gggtctcagt ttacagatgc taactctata taaaggaatg tggaaaaact cagttcttaa
     2701 gttacaagat taaaaattca catttggtct ttaagaaaca attgactgac atctatgaat
     2761 ttattttgta tcatgctagt aaacacgaag tattaatgta tgggtatttt cccagctagt
     2821 tttgctttct ttttctggag caaaacatta agtgattgca gagtttttca agcaagagaa
     2881 aaaggtttgc aaaaaaaccc aggaaatgtt cccttttttc cccaccattc atcttcatta
     2941 gatcaaattc tgtgaaactt gtctggtctc tcaaagggag cagcctctgt agtgttaaat
     3001 ggctaattaa aataggaaga tctttatagc cagaaacaac ttagtcatca aatagcaagt
     3061 gaaaccaaaa cgtcagaggg attactgtac ttggaagtat gttgtgtgtc ccaaatgtga
     3121 acgaagtatt gttagaattt attagatcag cttctttgga gatcaaagat tggaaatcct
     3181 agtcatagat attcactgga ctggctttgg actgaaatgc tcctttgtaa ttcttttcct
     3241 attgtctttt ccttctagtg tcccaaaata ttttctttaa agtcagcaca gtactgtata
     3301 tgaatcttta atgtggtatc atatatgtct acttttgtct gattcatcga tgtattatat
     3361 ctttataatt gaatatttta gctccgggtc ctgttgcccc ttcaagcagt acatgccaaa
     3421 ttataaatag gtgctactgg ccttgagcat atcactgtgg gacagttccc caattgtcaa
     3481 gtgtttagat atgtagacta ttgccatttg tttttttgtt ttggttttgc tttgtgtctg
     3541 aagctgaatt gatttctttt ttttgaatgt gaaagttgaa tttcaaacgt agtcatttct
     3601 tacagatggc caagacagaa aattgtggct aggttgactg agaactgttg tcttccatgt
     3661 attaacacaa ttaagctttt tatattccac tctctgtgct gaccctggct gaggcatttt
     3721 gggagacaag gactctgaat cttctgcttc cattaaagaa gaactgtgat attcaacatt
     3781 ggatttctga gaataaagat aggatgattc ctttgaactt tgacttactt gtataaaatg
     3841 tccagctagg ttaggttttt gccatttcct atatactttg ggtaaagcta catttgatga
     3901 gcaatgtgaa tgtttctgag aatgttcatt cctgttttct cttaagagaa tgtgctgtgt
     3961 actaaataca ggccacatag tgtctgcctg ttgaagatct ggaaactgcc tccccagatc
     4021 tgtattgtat ttggtaggta agggggtcag tttctttttc tcattgtgtg ttgataatct
     4081 acacaccatc tgttggaacc agggtgttat tatggggaac tcctcctgtg tactaggagg
     4141 aggaccttag ggagaccaag aggagagaag catttccttt gatgaagtca catcctgtct
     4201 atgagcccac taatgctgta acattggcct gaaagagagt gttctttaaa agcctttctc
     4261 ggctgttagt ataaaaacat gatggtatca gctcttagca tgtttgcttg acccttatgg
     4321 aaggtataaa tccacagaac ttccttccca gagaactggg aaattgtcct agaaataaac
     4381 cttgtacagt tgagtggaca tggataagca acaatttgtt actttgcagg atttgttcct
     4441 tggtaattgt ttggtgtgtc atcctgtaaa tattcatgat agtctgttta tatccttttg
     4501 tatatcgttg atactggatt gggtagaaaa ataaattggc aatttaaaaa aa
//
