LOCUS       NM_017668               3203 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens nudE neurodevelopment protein 1 (NDE1), transcript
            variant 2, mRNA.
ACCESSION   NM_017668
VERSION     NM_017668.3
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 3203)
  AUTHORS   Wang,P., Ning,J., Chen,W., Zou,F., Yu,W., Rao,T. and Cheng,F.
  TITLE     Comprehensive analysis indicated that NDE1 is a potential biomarker
            for pan-cancer and promotes bladder cancer progression
  JOURNAL   Cancer Med 13 (5), e6931 (2024)
   PUBMED   38466053
  REMARK    GeneRIF: Comprehensive analysis indicated that NDE1 is a potential
            biomarker for pan-cancer and promotes bladder cancer progression.
REFERENCE   2  (bases 1 to 3203)
  AUTHORS   Tsai,M.H., Ke,H.C., Lin,W.C., Nian,F.S., Huang,C.W., Cheng,H.Y.,
            Hsu,C.S., Granata,T., Chang,C.H., Castellotti,B., Lin,S.Y.,
            Doniselli,F.M., Lu,C.J., Franceschetti,S., Ragona,F., Hou,P.S.,
            Canafoglia,L., Tung,C.Y., Lee,M.H., Wang,W.J. and Tsai,J.W.
  TITLE     Novel lissencephaly-associated NDEL1 variant reveals distinct roles
            of NDE1 and NDEL1 in nucleokinesis and human cortical malformations
  JOURNAL   Acta Neuropathol 147 (1), 13 (2024)
   PUBMED   38194050
  REMARK    GeneRIF: Novel lissencephaly-associated NDEL1 variant reveals
            distinct roles of NDE1 and NDEL1 in nucleokinesis and human
            cortical malformations.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3203)
  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   4  (bases 1 to 3203)
  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   5  (bases 1 to 3203)
  AUTHORS   Cabet,S., Guibaud,L. and Sanlaville,D.
  TITLE     [Microlissencephaly due to pathogenic variants of NDE1: from
            pathology to normal brain development]
  JOURNAL   Med Sci (Paris) 36 (10), 866-871 (2020)
   PUBMED   33026328
  REMARK    GeneRIF: [Microlissencephaly due to pathogenic variants of NDE1:
            from pathology to normal brain development].', trans 'Variations
            pathogenes de NDE1 et microlissencephalie - De la pathologie au
            developpement cerebral normal.
            Review article
REFERENCE   6  (bases 1 to 3203)
  AUTHORS   Meyer,G., Perez-Garcia,C.G. and Gleeson,J.G.
  TITLE     Selective expression of doublecortin and LIS1 in developing human
            cortex suggests unique modes of neuronal movement
  JOURNAL   Cereb Cortex 12 (12), 1225-1236 (2002)
   PUBMED   12427674
  REMARK    GeneRIF: LIS1 deficiency adversely affects the migration and
            differentiation of DCX- and Reelin-positive neurons.
REFERENCE   7  (bases 1 to 3203)
  AUTHORS   Takahashi,M., Yamagiwa,A., Nishimura,T., Mukai,H. and Ono,Y.
  TITLE     Centrosomal proteins CG-NAP and kendrin provide microtubule
            nucleation sites by anchoring gamma-tubulin ring complex
  JOURNAL   Mol Biol Cell 13 (9), 3235-3245 (2002)
   PUBMED   12221128
REFERENCE   8  (bases 1 to 3203)
  AUTHORS   Tureci,O., Sahin,U., Koslowski,M., Buss,B., Bell,C., Ballweber,P.,
            Zwick,C., Eberle,T., Zuber,M., Villena-Heinsen,C., Seitz,G. and
            Pfreundschuh,M.
  TITLE     A novel tumour associated leucine zipper protein targeting to sites
            of gene transcription and splicing
  JOURNAL   Oncogene 21 (24), 3879-3888 (2002)
   PUBMED   12032826
REFERENCE   9  (bases 1 to 3203)
  AUTHORS   Mayor,T., Stierhof,Y.D., Tanaka,K., Fry,A.M. and Nigg,E.A.
  TITLE     The centrosomal protein C-Nap1 is required for cell cycle-regulated
            centrosome cohesion
  JOURNAL   J Cell Biol 151 (4), 837-846 (2000)
   PUBMED   11076968
REFERENCE   10 (bases 1 to 3203)
  AUTHORS   Golsteyn,R.M., Mundt,K.E., Fry,A.M. and Nigg,E.A.
  TITLE     Cell cycle regulation of the activity and subcellular localization
            of Plk1, a human protein kinase implicated in mitotic spindle
            function
  JOURNAL   J Cell Biol 129 (6), 1617-1628 (1995)
   PUBMED   7790358
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC001421.2 and AF001548.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_017668.2.
            
            Summary: This gene encodes a member of the nuclear distribution E
            (NudE) family of proteins. The encoded protein is localized at the
            centrosome and interacts with other centrosome components as part
            of a multiprotein complex that regulates dynein function. This
            protein plays an essential role in microtubule organization,
            mitosis and neuronal migration. Mutations in this gene cause
            lissencephaly 4, a disorder characterized by lissencephaly, severe
            brain atrophy, microcephaly, and severe cognitive disability.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Mar 2012].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Both variants 1 and 2 encode the same protein.
            
            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##
            Transcript exon combination :: BC001421.2, AK000108.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000396354.6/ ENSP00000379642.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1999              BC001421.2         13-2011
            2000-3203           AF001548.1         106375-107578       c
FEATURES             Location/Qualifiers
     source          1..3203
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.11"
     gene            1..3203
                     /gene="NDE1"
                     /gene_synonym="HOM-TES-87; LIS4; MHAC; NDE; NUDE; NUDE1"
                     /note="nudE neurodevelopment protein 1"
                     /db_xref="GeneID:54820"
                     /db_xref="HGNC:HGNC:17619"
                     /db_xref="MIM:609449"
     exon            1..50
                     /gene="NDE1"
                     /gene_synonym="HOM-TES-87; LIS4; MHAC; NDE; NUDE; NUDE1"
                     /inference="alignment:Splign:2.1.0"
     exon            51..176
                     /gene="NDE1"
                     /gene_synonym="HOM-TES-87; LIS4; MHAC; NDE; NUDE; NUDE1"
                     /inference="alignment:Splign:2.1.0"
     CDS             94..1101
                     /gene="NDE1"
                     /gene_synonym="HOM-TES-87; LIS4; MHAC; NDE; NUDE; NUDE1"
                     /note="LIS1-interacting protein NUDE1, rat homolog; nudE
                     nuclear distribution gene E homolog 1; nudE nuclear
                     distribution E homolog 1; epididymis secretory sperm
                     binding protein"
                     /codon_start=1
                     /product="nuclear distribution protein nudE homolog 1"
                     /protein_id="NP_060138.1"
                     /db_xref="CCDS:CCDS10564.1"
                     /db_xref="GeneID:54820"
                     /db_xref="HGNC:HGNC:17619"
                     /db_xref="MIM:609449"
                     /translation="MEDSGKTFSSEEEEANYWKDLAMTYKQRAENTQEELREFQEGSR
                     EYEAELETQLQQIETRNRDLLSENNRLRMELETIKEKFEVQHSEGYRQISALEDDLAQ
                     TKAIKDQLQKYIRELEQANDDLERAKRATIMSLEDFEQRLNQAIERNAFLESELDEKE
                     NLLESVQRLKDEARDLRQELAVQQKQEKPRTPMPSSVEAERTDTAVQATGSVPSTPIA
                     HRGPSSSLNTPGSFRRGLDDSTGGTPLTPAARISALNIVGDLLRKVGALESKLASCRN
                     LVYDQSPNRTGGPASGRSSKNRDGGERRPSSTSVPLGDKGLDTSCRWLSKSTTRSSSS
                     C"
     exon            177..330
                     /gene="NDE1"
                     /gene_synonym="HOM-TES-87; LIS4; MHAC; NDE; NUDE; NUDE1"
                     /inference="alignment:Splign:2.1.0"
     exon            331..479
                     /gene="NDE1"
                     /gene_synonym="HOM-TES-87; LIS4; MHAC; NDE; NUDE; NUDE1"
                     /inference="alignment:Splign:2.1.0"
     exon            480..616
                     /gene="NDE1"
                     /gene_synonym="HOM-TES-87; LIS4; MHAC; NDE; NUDE; NUDE1"
                     /inference="alignment:Splign:2.1.0"
     exon            617..796
                     /gene="NDE1"
                     /gene_synonym="HOM-TES-87; LIS4; MHAC; NDE; NUDE; NUDE1"
                     /inference="alignment:Splign:2.1.0"
     exon            797..888
                     /gene="NDE1"
                     /gene_synonym="HOM-TES-87; LIS4; MHAC; NDE; NUDE; NUDE1"
                     /inference="alignment:Splign:2.1.0"
     exon            889..1040
                     /gene="NDE1"
                     /gene_synonym="HOM-TES-87; LIS4; MHAC; NDE; NUDE; NUDE1"
                     /inference="alignment:Splign:2.1.0"
     exon            1041..3203
                     /gene="NDE1"
                     /gene_synonym="HOM-TES-87; LIS4; MHAC; NDE; NUDE; NUDE1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3179..3184
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDE1"
                     /gene_synonym="HOM-TES-87; LIS4; MHAC; NDE; NUDE; NUDE1"
                     /note="hexamer: AATAAA"
     polyA_site      3203
                     /gene="NDE1"
                     /gene_synonym="HOM-TES-87; LIS4; MHAC; NDE; NUDE; NUDE1"
                     /note="major polyA site"
ORIGIN      
        1 gcagccgcct ctgccgccgc cgccgcgttg gcctcgccgc ccctgctcgg acaccatgcc
       61 acaaggagag tgatctcttc ccctgttttc acaatggagg actccggaaa gactttcagc
      121 tccgaggagg aagaagctaa ctattggaaa gatctggcga tgacctacaa acagagggca
      181 gaaaatacgc aagaggaact ccgagaattc caggagggaa gccgagaata tgaagctgaa
      241 ttggagacgc agctgcaaca aattgaaacc aggaacagag acctcctgtc cgaaaataac
      301 cgccttcgca tggagctgga aaccatcaag gagaagtttg aagtgcagca ctctgaaggc
      361 taccggcaga tctcagcctt ggaggatgac ctcgcgcaga ccaaagccat taaagaccaa
      421 ttgcagaaat acatcagaga gctggagcaa gcaaatgacg acctggaaag agccaagcgc
      481 gccacgatca tgtctctcga agactttgag cagcgcttga atcaggccat cgaaagaaat
      541 gccttcctgg aaagtgaact tgatgaaaaa gagaatctcc tggaatctgt tcagagactg
      601 aaggatgaag ccagagattt gcggcaggaa ctggccgtgc agcagaagca ggagaaaccc
      661 aggaccccca tgcccagctc agtggaagct gagaggacag acacagctgt gcaggccacg
      721 ggctccgtgc cgtccacgcc cattgctcac cgaggaccca gctcaagttt aaacacacct
      781 gggagcttca gacgtggcct ggacgactcc accgggggga cccccctcac acctgcggcc
      841 cggatatcag ccctcaacat tgtgggagac ctactgcgga aagtcggggc actggagtcc
      901 aaactcgctt cctgccggaa cctcgtgtac gatcagtccc caaaccgaac aggtggccca
      961 gcctctgggc ggagcagcaa gaacagagat ggcggggaga gacggccaag cagcaccagc
     1021 gtgcctttgg gtgataaggg gttggacacg agttgccgct ggttgtccaa atcaacaacc
     1081 aggtcgtcca gctcctgctg aagcctgttc ttggtctttt ccagtttatc ataagcggcc
     1141 gccttctcct cgtactgctg ggtgaggttc tcgatctcct tctggaacct cttcttcccc
     1201 tcttccagag cttccacggt gctggcaaag tcctgcagct tcttcttcga gtcggagagc
     1261 tacaaggaca gcgtccaggg tagggtgaga gggggaccat gagtggcccc tgtccctggc
     1321 cccacagact ctgagaagcg aagaccatgt ctcctcgttg gagaaaccca atagcagggg
     1381 aagctggggg gtcaagcacc atcgcaccaa cactccaccg cgatctgcct gcgggggatc
     1441 tcagcgcaga gaagttgaga ggacccatga aggaagcaag gacacggggc aggcacctgg
     1501 atgttgagag tggagatgtg gcgctccagg ttctgcttgg cctccatctc ctcgtccagc
     1561 tggtcttgca ggctgttccg ctcctcctcc agctggcgca gcttcgtaga cacgttgagc
     1621 ttctgccggg tttcttcttg aagcagctcc tgcaaaaggg atgcaaagag gtcccaggga
     1681 cctgccccga ggaaggccac cccccaggtc ccctggatga tgtggcagga cactcacctg
     1741 ggtgtcctgg agctgggaac tgagggacgc cacgtccttg gccagcttaa tggccttccc
     1801 ctcggcctcg ttaagcatcc ctgtgacgct ctcaacttca ttctaagggt gccaagagac
     1861 tggttagtca aagcctctag aaggggatcc tcgttgaaag gagccctttt tactcaaaac
     1921 acatgggcta gtacttgagg tgttcactga ttgagaaaat acccgtgagg tatgggactc
     1981 tgataaaaaa aaaaaaaaac acacacacac acaaaaaaaa cagaatctgt ggcttgaagg
     2041 gaactccgtc acctatgagt tgggaccctg gccctagact ctgtggttct aagaacttat
     2101 ttgagcccca atggtattga ctgggacctg atcccactaa atggatccta gatccctgcc
     2161 aaggttggta gagacaaagc agcaggtctg agagtccaga cgaggtgctc tggctggtcc
     2221 actctctaag gctggagaag ggagaccagg atggtacttg aacgtcccag ggatgctgtc
     2281 ccatcccttc cttcctcact cctactcttt gaccctgatg gccaaagcca gagacgcagg
     2341 ccctaaaggt aaaaacgtcc tctctgtatt ctctggcttt tactccctag tgtctctgca
     2401 taagtccctt tgaggctgtt agcctacccc tccatctctt ccattgacaa ggaggatatg
     2461 aatgatcttg acactgctta tatgagggcg gcaaaagccc tgctctcaac tgcatgtgag
     2521 aaaaaaacat ctcacttaat tcttccctcg ccccttggtc cctggctgtg gacatgttaa
     2581 acatttgtga aaactttggc cacgtcccca tgagtggcaa ggcagggtaa atggctatgc
     2641 caagtgaaag aagaccaaag acaaaaagac catgtcattc agcagcttaa aacccctcaa
     2701 cagcttcaca ttgcccagag taaggatcaa catacatgta ataggttctc aaaagcccta
     2761 catcatctgg gtacaagctc cccctccaac cccactctgt actatctccc cctaccccca
     2821 accccagctg ggcactccag ctctactggc tgtatgtctc tctcctaatt tttctactta
     2881 ccacagggcc tttgcacacg ctgttccctc tgcctggtag acttatccat gctccttagg
     2941 gaagcctttc gtggctcctc ctcccccagg ttaggccccc tggttattta cacttgggca
     3001 tcatgtgcct tccctttgct gcatcatttg acattcattt gtgtgattat tcatgtcttt
     3061 cccttccctt cccttcccct tactcggctg gagtcctact ggggcagcga cagtgtctct
     3121 tcttccttgc tgttggatct caggattaag cacagtgcct ggcatacagc aggtgctcaa
     3181 taaatactta tcaaattgga aaa
//
