LOCUS       NM_030808               2352 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens nudE neurodevelopment protein 1 like 1 (NDEL1),
            transcript variant 2, mRNA.
ACCESSION   NM_030808
VERSION     NM_030808.5
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 2352)
  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   2  (bases 1 to 2352)
  AUTHORS   Garrott,S.R., Gillies,J.P., Siva,A., Little,S.R., El Jbeily,R. and
            DeSantis,M.E.
  TITLE     Ndel1 disfavors dynein-dynactin-adaptor complex formation in two
            distinct ways
  JOURNAL   J Biol Chem 299 (6), 104735 (2023)
   PUBMED   37086789
  REMARK    GeneRIF: Ndel1 disfavors dynein-dynactin-adaptor complex formation
            in two distinct ways.
REFERENCE   3  (bases 1 to 2352)
  AUTHORS   Habibi,S., Yaghoubzad-Maleki,M., Heshmati,E. and Khalifeh,K.
  TITLE     Effects of representative point mutations on dynamic behavior of
            the DISC1-Ndel1 complex: a molecular dynamics study
  JOURNAL   J Biomol Struct Dyn 41 (22), 13228-13234 (2023)
   PUBMED   36858606
  REMARK    GeneRIF: Effects of representative point mutations on dynamic
            behavior of the DISC1-Ndel1 complex: a molecular dynamics study.
REFERENCE   4  (bases 1 to 2352)
  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 2352)
  AUTHORS   Chansard,M., Hong,J.H., Park,Y.U., Park,S.K. and Nguyen,M.D.
  TITLE     Ndel1, Nudel (Noodle): flexible in the cell?
  JOURNAL   Cytoskeleton (Hoboken) 68 (10), 540-554 (2011)
   PUBMED   21948775
  REMARK    GeneRIF: Nuclear distribution element-like 1 (Ndel1 or Nudel) was
            firstly described as a regulator of the cytoskeleton in microtubule
            and intermediate filament dynamics and microtubule-based transport.
            Review article
REFERENCE   6  (bases 1 to 2352)
  AUTHORS   Ozeki,Y., Tomoda,T., Kleiderlein,J., Kamiya,A., Bord,L., Fujii,K.,
            Okawa,M., Yamada,N., Hatten,M.E., Snyder,S.H., Ross,C.A. and
            Sawa,A.
  TITLE     Disrupted-in-Schizophrenia-1 (DISC-1): mutant truncation prevents
            binding to NudE-like (NUDEL) and inhibits neurite outgrowth
  JOURNAL   Proc Natl Acad Sci U S A 100 (1), 289-294 (2003)
   PUBMED   12506198
  REMARK    GeneRIF: disease mutant form of Disrupted-in-Schizophrenia-1 fails
            to bind NUDEL
            Erratum:[Proc Natl Acad Sci U S A. 2004 Sep 21;101(38):13969]
REFERENCE   7  (bases 1 to 2352)
  AUTHORS   Niethammer,M., Smith,D.S., Ayala,R., Peng,J., Ko,J., Lee,M.S.,
            Morabito,M. and Tsai,L.H.
  TITLE     NUDEL is a novel Cdk5 substrate that associates with LIS1 and
            cytoplasmic dynein
  JOURNAL   Neuron 28 (3), 697-711 (2000)
   PUBMED   11163260
REFERENCE   8  (bases 1 to 2352)
  AUTHORS   Sasaki,S., Shionoya,A., Ishida,M., Gambello,M.J., Yingling,J.,
            Wynshaw-Boris,A. and Hirotsune,S.
  TITLE     A LIS1/NUDEL/cytoplasmic dynein heavy chain complex in the
            developing and adult nervous system
  JOURNAL   Neuron 28 (3), 681-696 (2000)
   PUBMED   11163259
REFERENCE   9  (bases 1 to 2352)
  AUTHORS   Feng,Y., Olson,E.C., Stukenberg,P.T., Flanagan,L.A., Kirschner,M.W.
            and Walsh,C.A.
  TITLE     LIS1 regulates CNS lamination by interacting with mNudE, a central
            component of the centrosome
  JOURNAL   Neuron 28 (3), 665-679 (2000)
   PUBMED   11163258
REFERENCE   10 (bases 1 to 2352)
  AUTHORS   Efimov,V.P. and Morris,N.R.
  TITLE     The LIS1-related NUDF protein of Aspergillus nidulans interacts
            with the coiled-coil domain of the NUDE/RO11 protein
  JOURNAL   J Cell Biol 150 (3), 681-688 (2000)
   PUBMED   10931877
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC026130.15.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_030808.4.
            
            Transcript Variant: This variant (2) lacks an exon in the 3' coding
            region, compared to variant 1. The encoded isoform (B) is longer
            and has a distinct C-terminus, compared to isoform A.
            
            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 :: SRR1660807.244160.1,
                                           SRR1660803.133293.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000334527.12/ ENSP00000333982.7
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-162               AC026130.15        102557-102718       c
            163-260             AC026130.15        94245-94342         c
            261-414             AC026130.15        92738-92891         c
            415-563             AC026130.15        91700-91848         c
            564-700             AC026130.15        89916-90052         c
            701-874             AC026130.15        87649-87822         c
            875-966             AC026130.15        83715-83806         c
            967-1118            AC026130.15        78442-78593         c
            1119-2352           AC026130.15        70439-71672         c
FEATURES             Location/Qualifiers
     source          1..2352
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.1"
     gene            1..2352
                     /gene="NDEL1"
                     /gene_synonym="EOPA; MITAP1; NDE1L1; NDE2; NUDEL"
                     /note="nudE neurodevelopment protein 1 like 1"
                     /db_xref="GeneID:81565"
                     /db_xref="HGNC:HGNC:17620"
                     /db_xref="MIM:607538"
     exon            1..162
                     /gene="NDEL1"
                     /gene_synonym="EOPA; MITAP1; NDE1L1; NDE2; NUDEL"
                     /inference="alignment:Splign:2.1.0"
     exon            163..260
                     /gene="NDEL1"
                     /gene_synonym="EOPA; MITAP1; NDE1L1; NDE2; NUDEL"
                     /inference="alignment:Splign:2.1.0"
     CDS             175..1212
                     /gene="NDEL1"
                     /gene_synonym="EOPA; MITAP1; NDE1L1; NDE2; NUDEL"
                     /note="isoform B is encoded by transcript variant 2;
                     endooligopeptidase A; mitosin-associated protein MITAP1;
                     protein Nudel; mitosin-associated protein 1; nudE nuclear
                     distribution gene E homolog-like 1; nudE nuclear
                     distribution E homolog-like 1"
                     /codon_start=1
                     /product="nuclear distribution protein nudE-like 1 isoform
                     B"
                     /protein_id="NP_110435.1"
                     /db_xref="CCDS:CCDS11143.1"
                     /db_xref="GeneID:81565"
                     /db_xref="HGNC:HGNC:17620"
                     /db_xref="MIM:607538"
                     /translation="MDGEDIPDFSSLKEETAYWKELSLKYKQSFQEARDELVEFQEGS
                     RELEAELEAQLVQAEQRNRDLQADNQRLKYEVEALKEKLEHQYAQSYKQVSVLEDDLS
                     QTRAIKEQLHKYVRELEQANDDLERAKRATIVSLEDFEQRLNQAIERNAFLESELDEK
                     ESLLVSVQRLKDEARDLRQELAVRERQQEVTRKSAPSSPTLDCEKMDSAVQASLSLPA
                     TPVGKGTENTFPSPKAIPNGFGTSPLTPSARISALNIVGDLLRKVGALESKLAACRNF
                     AKDQASRKSYISGNVNCGVLNGNGTKFSRSGHTSFFDKGAVNGFDPAPPPPGLGSSRP
                     SSAPGMLPLSV"
     exon            261..414
                     /gene="NDEL1"
                     /gene_synonym="EOPA; MITAP1; NDE1L1; NDE2; NUDEL"
                     /inference="alignment:Splign:2.1.0"
     exon            415..563
                     /gene="NDEL1"
                     /gene_synonym="EOPA; MITAP1; NDE1L1; NDE2; NUDEL"
                     /inference="alignment:Splign:2.1.0"
     exon            564..700
                     /gene="NDEL1"
                     /gene_synonym="EOPA; MITAP1; NDE1L1; NDE2; NUDEL"
                     /inference="alignment:Splign:2.1.0"
     exon            701..874
                     /gene="NDEL1"
                     /gene_synonym="EOPA; MITAP1; NDE1L1; NDE2; NUDEL"
                     /inference="alignment:Splign:2.1.0"
     exon            875..966
                     /gene="NDEL1"
                     /gene_synonym="EOPA; MITAP1; NDE1L1; NDE2; NUDEL"
                     /inference="alignment:Splign:2.1.0"
     exon            967..1118
                     /gene="NDEL1"
                     /gene_synonym="EOPA; MITAP1; NDE1L1; NDE2; NUDEL"
                     /inference="alignment:Splign:2.1.0"
     exon            1119..2352
                     /gene="NDEL1"
                     /gene_synonym="EOPA; MITAP1; NDE1L1; NDE2; NUDEL"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      2310
                     /gene="NDEL1"
                     /gene_synonym="EOPA; MITAP1; NDE1L1; NDE2; NUDEL"
     regulatory      2329..2334
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDEL1"
                     /gene_synonym="EOPA; MITAP1; NDE1L1; NDE2; NUDEL"
                     /note="hexamer: AATAAA"
     polyA_site      2352
                     /gene="NDEL1"
                     /gene_synonym="EOPA; MITAP1; NDE1L1; NDE2; NUDEL"
                     /note="major polyA site"
ORIGIN      
        1 agtccctgac gtgtcgggga ggagccgggc gcggaggtac gctgagtgga gctcggggct
       61 gcgtagggga gctgagccga gcggctgggc gggcctggcc gggccggcgg aggggagacg
      121 tcggttgagc ggcggcgaac atgcgctttt gacacattgg aggctttctt gatcatggat
      181 ggtgaagata taccagattt ttcaagttta aaggaggaaa ctgcttattg gaaggaactt
      241 tccttgaagt ataagcaaag cttccaggaa gctcgggatg agctagttga attccaggaa
      301 ggaagcagag aattagaagc agagttggag gcacaattag tacaggctga acaaagaaat
      361 agagacttgc aggctgataa ccaaagactg aaatatgaag tggaggcatt aaaggagaag
      421 ctagagcatc aatatgcaca gagctataag caggtctcag tgttagaaga tgatttaagt
      481 cagactcggg ccattaagga gcagttgcat aagtatgtga gagagctgga gcaggccaac
      541 gacgacctgg agcgagccaa aagggcaaca atagtttcac tggaagactt tgaacaaagg
      601 ctaaaccagg ccattgaacg aaatgcattt ttagaaagtg aacttgatga aaaggaatct
      661 ttgttggtct ctgtacagag gttaaaggat gaagcaagag atttaaggca agaactagca
      721 gttcgggaaa gacaacagga agtaactaga aagtcggctc ctagctctcc aactctagac
      781 tgtgaaaaga tggactccgc cgtccaagca tcactttctt tgccagctac ccctgttggc
      841 aaaggaacgg agaacacttt tccttcaccg aaagctatac caaatggttt tggtaccagt
      901 ccactaactc cctctgctag gatatcagca ctaaacatcg tgggggatct cttacggaaa
      961 gtaggggctt tagaatccaa attagcagct tgcaggaatt ttgcaaagga ccaagcatca
     1021 cgaaaatcct atatttcagg gaatgttaac tgtggggtgc tgaatggcaa tggcacaaag
     1081 ttctctcgat cagggcatac atctttcttc gacaaagggg cagtaaacgg ctttgacccc
     1141 gctcctcctc ctcctggtct gggctcctcg cgtccatcgt cagcgccggg tatgctgcct
     1201 ctcagtgtgt gagtgcctag cctccaggtg ggggctcctg ccctcctcca acaacccagg
     1261 acacccacgc ctcacccctc ggtgcctggg cccagccccg tgcccctccg tctgcctccg
     1321 cacggctggc agagggcagg ctgcatgcag tggcggctac tgggccctgc ccagccccgg
     1381 aactctgcgc gatatcaata ctggctattt tctcttctcg ccgtagtgcc gttggtttca
     1441 catgattgca cttttgtggg tcgcaaggtg atacatacgt gtattacttg gtcactggat
     1501 gcagaagtac ccattcatca cacctgcccc atagccccca ctctgctgta ctgataggat
     1561 ttagttgtgt tttaggacat tgcaaatctt ctagaagttc tcccccaaat caggtcaatg
     1621 tgtgccctcc tgagctccca cccaggcatc tccagtgctc atgatcatgt gtcccccaac
     1681 tccacccctc acagtttggg cctgtttctg gcaaagagtc aggaaggtta ctgaattagg
     1741 gaacattttc tgcaccttct gattttactt aagcagctac cattccatgg acttgcctcc
     1801 cagagcagca caatgcccgt ctgagcccca cgtggcagga gcctctggga cggggcacac
     1861 acaggcccag cctctgtgct gtctcctcct ccgtgcgcct cagactcggg gtgagggagg
     1921 cgggcagcct ctcgccagcc ttcccgtcct tcagttcaac gacatctttg gagtgttttt
     1981 gttttctctt ccaagggccg tcccgttgtg ttaggaaggg tgagtggctg gttccagggt
     2041 gggccggtgc cagctccggg gtggactgaa cagcggcggc tgtccctgtg catcctttga
     2101 ttactctcat gctgcattta ctgtttacat ttgttttatt gtacataggt ttgtaaacat
     2161 tattgcctga gatatttgta tataacttgg gctttgtagc ttttatttat tcagaacgca
     2221 tacggcatgt taatgactct gatggtgtcc tcctctgggc agctgtatag gatcatcatg
     2281 tggttacaaa aaatacttcc ctcaaaaaaa ttcttttaat gtggaaacaa taaatttcac
     2341 agaaaaaaag ga
//
