LOCUS       NM_178337               1866 bp    mRNA    linear   ROD 30-APR-2024
DEFINITION  Mus musculus tubulin-specific chaperone E (Tbce), transcript
            variant 1, mRNA.
ACCESSION   NM_178337
VERSION     NM_178337.3
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 1866)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 1866)
  AUTHORS   Bieniussa,L., Kahraman,B., Skornicka,J., Schulte,A., Voelker,J.,
            Jablonka,S., Hagen,R. and Rak,K.
  TITLE     Pegylated Insulin-Like Growth Factor 1 attenuates Hair Cell Loss
            and promotes Presynaptic Maintenance of Medial Olivocochlear
            Cholinergic Fibers in the Cochlea of the Progressive Motor
            Neuropathy Mouse
  JOURNAL   Front Neurol 13, 885026 (2022)
   PUBMED   35720065
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1866)
  AUTHORS   Efentakis,P., Molitor,M., Kossmann,S., Bochenek,M.L., Wild,J.,
            Lagrange,J., Finger,S., Jung,R., Karbach,S., Schafer,K., Schulz,A.,
            Wild,P., Munzel,T. and Wenzel,P.
  TITLE     Tubulin-folding cofactor E deficiency promotes vascular dysfunction
            by increased endoplasmic reticulum stress
  JOURNAL   Eur Heart J 43 (6), 488-500 (2022)
   PUBMED   34132336
REFERENCE   4  (bases 1 to 1866)
  AUTHORS   Knudsen,J.G., Hamilton,A., Ramracheya,R., Tarasov,A.I.,
            Brereton,M., Haythorne,E., Chibalina,M.V., Spegel,P., Mulder,H.,
            Zhang,Q., Ashcroft,F.M., Adam,J. and Rorsman,P.
  TITLE     Dysregulation of Glucagon Secretion by Hyperglycemia-Induced
            Sodium-Dependent Reduction of ATP Production
  JOURNAL   Cell Metab 29 (2), 430-442 (2019)
   PUBMED   30415925
REFERENCE   5  (bases 1 to 1866)
  AUTHORS   Schafer,M.K., Bellouze,S., Jacquier,A., Schaller,S., Richard,L.,
            Mathis,S., Vallat,J.M. and Haase,G.
  TITLE     Sensory neuropathy in progressive motor neuronopathy (pmn) mice is
            associated with defects in microtubule polymerization and axonal
            transport
  JOURNAL   Brain Pathol 27 (4), 459-471 (2017)
   PUBMED   27488538
  REMARK    GeneRIF: This study reported that reduced expression of the
            tubulin-specific chaperone TBCE leads to defective microtubule
            polymerization and impaired microtubule-dependent axonal transport
            in sensory DRG neurons of pmn mice.
REFERENCE   6  (bases 1 to 1866)
  AUTHORS   Sagot,Y., Dubois-Dauphin,M., Tan,S.A., de Bilbao,F., Aebischer,P.,
            Martinou,J.C. and Kato,A.C.
  TITLE     Bcl-2 overexpression prevents motoneuron cell body loss but not
            axonal degeneration in a mouse model of a neurodegenerative disease
  JOURNAL   J Neurosci 15 (11), 7727-7733 (1995)
   PUBMED   7472523
REFERENCE   7  (bases 1 to 1866)
  AUTHORS   Sagot,Y., Tan,S.A., Baetge,E., Schmalbruch,H., Kato,A.C. and
            Aebischer,P.
  TITLE     Polymer encapsulated cell lines genetically engineered to release
            ciliary neurotrophic factor can slow down progressive motor
            neuronopathy in the mouse
  JOURNAL   Eur J Neurosci 7 (6), 1313-1322 (1995)
   PUBMED   7582105
REFERENCE   8  (bases 1 to 1866)
  AUTHORS   Moos,T.
  TITLE     Increased accumulation of transferrin by motor neurons of the mouse
            mutant progressive motor neuronopathy (pmn/pmn)
  JOURNAL   J Neurocytol 24 (5), 389-398 (1995)
   PUBMED   7650542
REFERENCE   9  (bases 1 to 1866)
  AUTHORS   Sendtner,M., Schmalbruch,H., Stockli,K.A., Carroll,P.,
            Kreutzberg,G.W. and Thoenen,H.
  TITLE     Ciliary neurotrophic factor prevents degeneration of motor neurons
            in mouse mutant progressive motor neuronopathy
  JOURNAL   Nature 358 (6386), 502-504 (1992)
   PUBMED   1641039
REFERENCE   10 (bases 1 to 1866)
  AUTHORS   Schmalbruch,H., Jensen,H.J., Bjaerg,M., Kamieniecka,Z. and
            Kurland,L.
  TITLE     A new mouse mutant with progressive motor neuronopathy
  JOURNAL   J Neuropathol Exp Neurol 50 (3), 192-204 (1991)
   PUBMED   2022963
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK082940.1, AK167383.1 and
            BC038679.1.
            
            On Feb 10, 2015 this sequence version replaced NM_178337.2.
            
            Summary: This gene encodes a tubulin binding cofactor that
            participates in microtubule dynamics. A mouse model of progressive
            motor neuropathy (pmn) was discovered to harbor a single amino acid
            deletion in this gene. Mice that are homozygous for pmn allele
            exhibit progressive atrophy and premature death due to respiratory
            failure. Alternative splicing of this gene results in multiple
            transcript variants. [provided by RefSeq, Feb 2015].
            
            Transcript Variant: This variant (1) encodes the functional
            protein.
            
            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 :: AY082332.1, BC050206.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849374,
                                           SAMN00849375 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-13                AK082940.1         1-13
            14-1844             AK167383.1         2-1832
            1845-1866           BC038679.1         978-999
FEATURES             Location/Qualifiers
     source          1..1866
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="13"
                     /map="13 5.29 cM"
     gene            1..1866
                     /gene="Tbce"
                     /gene_synonym="2610206D02Rik; C530005D02Rik; pmn"
                     /note="tubulin-specific chaperone E"
                     /db_xref="GeneID:70430"
                     /db_xref="MGI:MGI:1917680"
     exon            1..101
                     /gene="Tbce"
                     /gene_synonym="2610206D02Rik; C530005D02Rik; pmn"
                     /inference="alignment:Splign:2.1.0"
     exon            102..232
                     /gene="Tbce"
                     /gene_synonym="2610206D02Rik; C530005D02Rik; pmn"
                     /inference="alignment:Splign:2.1.0"
     CDS             133..1707
                     /gene="Tbce"
                     /gene_synonym="2610206D02Rik; C530005D02Rik; pmn"
                     /note="tubulin-folding cofactor E; progressive motor
                     neuropathy"
                     /codon_start=1
                     /product="tubulin-specific chaperone E"
                     /protein_id="NP_848027.1"
                     /db_xref="CCDS:CCDS26247.1"
                     /db_xref="GeneID:70430"
                     /db_xref="MGI:MGI:1917680"
                     /translation="MSDILPLDVIGRRVEVNGEYATVRFCGAVPPVAGLWLGVEWDNP
                     ERGKHDGSHEGTMYFKCRHPTGGSFVRPSKVNFGDDFLTALKKRYVLEDGPDDDENSC
                     SLKVGSKQVQTIGFEHITKKQSQLRALQDISLWNCAVSHAGEQGRIAEACPNIRVVNL
                     SKNLLSTWDEVVLIAEQLKDLEALDLSENKLQFPSDSPTLTRTFSTLKTLVLNKTGIT
                     WTEVLHCAPSWPVLEELYLKSNNISISERPVNVLQKMRLLDLSSNPSIDESQLSLIAD
                     LPRLEHLVLSDIGLSSIHFPDAEIGCKTSMFPALKYLIVNDNQISEWSFINELDKLQS
                     LQALSCTRNPLSKADKAEEIIIAKIAQLRTLNRCQILPEERRGAELDYRKAFGNEWRK
                     AGGHPDPDKNRPNAAFLSAHPRYQLLCCKYGAPEDEELKTQQPFMLKKQLLTLKIKCS
                     NQPERQILEKQLPDSMTVQKVKGLLSRLLKVPVSELLLSYESSKMPGREIELENDLQP
                     LQFYSVENGDCLLVRW"
     exon            233..317
                     /gene="Tbce"
                     /gene_synonym="2610206D02Rik; C530005D02Rik; pmn"
                     /inference="alignment:Splign:2.1.0"
     exon            318..503
                     /gene="Tbce"
                     /gene_synonym="2610206D02Rik; C530005D02Rik; pmn"
                     /inference="alignment:Splign:2.1.0"
     exon            504..592
                     /gene="Tbce"
                     /gene_synonym="2610206D02Rik; C530005D02Rik; pmn"
                     /inference="alignment:Splign:2.1.0"
     exon            593..692
                     /gene="Tbce"
                     /gene_synonym="2610206D02Rik; C530005D02Rik; pmn"
                     /inference="alignment:Splign:2.1.0"
     exon            693..795
                     /gene="Tbce"
                     /gene_synonym="2610206D02Rik; C530005D02Rik; pmn"
                     /inference="alignment:Splign:2.1.0"
     exon            796..872
                     /gene="Tbce"
                     /gene_synonym="2610206D02Rik; C530005D02Rik; pmn"
                     /inference="alignment:Splign:2.1.0"
     exon            873..968
                     /gene="Tbce"
                     /gene_synonym="2610206D02Rik; C530005D02Rik; pmn"
                     /inference="alignment:Splign:2.1.0"
     exon            969..1033
                     /gene="Tbce"
                     /gene_synonym="2610206D02Rik; C530005D02Rik; pmn"
                     /inference="alignment:Splign:2.1.0"
     exon            1034..1098
                     /gene="Tbce"
                     /gene_synonym="2610206D02Rik; C530005D02Rik; pmn"
                     /inference="alignment:Splign:2.1.0"
     exon            1099..1239
                     /gene="Tbce"
                     /gene_synonym="2610206D02Rik; C530005D02Rik; pmn"
                     /inference="alignment:Splign:2.1.0"
     exon            1240..1393
                     /gene="Tbce"
                     /gene_synonym="2610206D02Rik; C530005D02Rik; pmn"
                     /inference="alignment:Splign:2.1.0"
     exon            1394..1462
                     /gene="Tbce"
                     /gene_synonym="2610206D02Rik; C530005D02Rik; pmn"
                     /inference="alignment:Splign:2.1.0"
     exon            1463..1522
                     /gene="Tbce"
                     /gene_synonym="2610206D02Rik; C530005D02Rik; pmn"
                     /inference="alignment:Splign:2.1.0"
     exon            1523..1614
                     /gene="Tbce"
                     /gene_synonym="2610206D02Rik; C530005D02Rik; pmn"
                     /inference="alignment:Splign:2.1.0"
     exon            1615..1845
                     /gene="Tbce"
                     /gene_synonym="2610206D02Rik; C530005D02Rik; pmn"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1826..1831
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Tbce"
                     /gene_synonym="2610206D02Rik; C530005D02Rik; pmn"
     polyA_site      1845
                     /gene="Tbce"
                     /gene_synonym="2610206D02Rik; C530005D02Rik; pmn"
ORIGIN      
        1 gaggtgggac ttccggtctc cagatacttc cgcctagagc cgaaagcttc gtcgctgatt
       61 gcgtgagggt ctctgggtgc tgacagaccg gcagagggaa gatctcctat tgtggattcc
      121 tgctatctta taatgagtga cattttgcca ttagatgtca ttggtagaag agttgaagtt
      181 aatggagaat atgcaacagt gcgcttttgt ggtgctgttc ctcctgtggc aggactctgg
      241 ttaggagttg agtgggacaa tcctgagaga ggaaagcatg acgggagcca cgaaggtact
      301 atgtatttta aatgcaggca cccaacagga ggctcttttg ttcgtccaag caaagttaat
      361 ttcggagatg acttccttac tgcccttaag aagcgctatg tgctcgaaga tggacctgat
      421 gatgatgaaa attcgtgttc cttaaaagtt ggaagtaaac aagtgcaaac tattggtttt
      481 gaacatatta caaagaagca gagtcagctg agagcactgc aggacatttc cctctggaac
      541 tgtgccgtga gccatgctgg tgaacaagga agaattgctg aagcctgccc caatattcga
      601 gttgtaaatt tatccaaaaa cttgttgtca acttgggatg aagtggttct tattgcagag
      661 cagctcaaag acctggaggc tcttgatctc agtgaaaata aactgcagtt tccctctgac
      721 tcaccaactc taactagaac attttctact ctgaagactt tagtcctaaa caaaacagga
      781 ataacgtgga ctgaggtgct gcactgtgct ccttcatggc cagtcctcga ggaactttac
      841 ctcaagtcta acaatatttc catttctgaa aggccagtga atgtcctgca gaaaatgagg
      901 ttactagacc tttcctccaa cccatcaatt gatgaaagcc agctgagcct tatagcagat
      961 cttccaagat tagaacacct agtcctttct gacattggac tttcttctat acattttcca
     1021 gatgctgaaa ttggatgcaa aacatccatg ttcccggcct tgaagtacct catagtcaat
     1081 gacaaccaga tatcagaatg gtcatttatc aacgagctgg ataaactgca gagcctgcag
     1141 gccctgtcct gcactagaaa ccctttgagc aaagcggaca aagcagagga gatcattatc
     1201 gccaagattg ctcagctgag gaccctgaac aggtgccaga ttcttccaga ggaaaggcgt
     1261 ggagctgagc tagattatcg aaaagccttt ggaaatgaat ggagaaaggc tggtggacac
     1321 ccagatccag acaaaaacag gccaaatgca gcgtttctct cagcccatcc tagataccag
     1381 cttctctgct gcaaatatgg tgcacctgaa gatgaggagc tcaaaacaca gcagccattc
     1441 atgctaaaaa aacagctact aaccctgaag ataaaatgct caaatcaacc tgaacggcaa
     1501 atattagaaa agcagttgcc agactccatg acagttcaaa aggtaaaggg actgttgtca
     1561 cgtcttctca aagttcctgt gtcagaactt ctgttgtcct acgaaagttc caagatgccg
     1621 ggcagagaaa ttgaactaga aaatgaccta cagccattac agttttattc tgtggaaaat
     1681 ggagattgcc tactagtgcg atggtaacag tccaaccgta agagtttaac gactggaatg
     1741 tatacaccag aaacaaaacc tttgccctca caaatgatgt tatgttttgt tgggaaaaga
     1801 ccatttggtt gtatattaat agaataataa aggctttgat tactaaaaaa aaaaaaaaaa
     1861 aaaaaa
//
