LOCUS       NM_030749               1715 bp    mRNA    linear   ROD 04-JUN-2024
DEFINITION  Mus musculus SIL1 nucleotide exchange factor (Sil1), transcript
            variant 2, mRNA.
ACCESSION   NM_030749
VERSION     NM_030749.2
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 1715)
  AUTHORS   Xu,S., Zhu,J., Mi,K., Shen,Y. and Zhang,X.
  TITLE     Functional Role of SIL1 in Neurodevelopment and Learning
  JOURNAL   Neural Plast 2019, 9653024 (2019)
   PUBMED   31531014
  REMARK    GeneRIF: SIL1 is required for the development of the central
            nervous system which is associated with its role in Reelin
            signaling.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1715)
  AUTHORS   Phan,V., Cox,D., Cipriani,S., Spendiff,S., Buchkremer,S.,
            O'Connor,E., Horvath,R., Goebel,H.H., Hathazi,D., Lochmuller,H.,
            Straka,T., Rudolf,R., Weis,J. and Roos,A.
  TITLE     SIL1 deficiency causes degenerative changes of peripheral nerves
            and neuromuscular junctions in fish, mice and human
  JOURNAL   Neurobiol Dis 124, 218-229 (2019)
   PUBMED   30468864
  REMARK    GeneRIF: SIL1 deficiency causes degenerative changes of peripheral
            nerves and neuromuscular junctions in fish, mice and human. The
            data expand the spectrum of tissues affected by SIL1-loss and
            suggest that impaired neuromuscular transmission might be part of
            Marinesco-Sjogren Syndrome pathophysiology.
REFERENCE   3  (bases 1 to 1715)
  AUTHORS   Grande,V., Ornaghi,F., Comerio,L., Restelli,E., Masone,A.,
            Corbelli,A., Tolomeo,D., Capone,V., Axten,J.M., Laping,N.J.,
            Fiordaliso,F., Sallese,M. and Chiesa,R.
  TITLE     PERK inhibition delays neurodegeneration and improves motor
            function in a mouse model of Marinesco-Sjogren syndrome
  JOURNAL   Hum Mol Genet 27 (14), 2477-2489 (2018)
   PUBMED   29718201
  REMARK    GeneRIF: The protein but not the mRNA level of ORP150, a nucleotide
            exchange factor which can substitute for SIL1, was increased in the
            cerebellum of GSK2606414-treated woozy mice, suggesting that
            translational recovery promoted the synthesis of this alternative
            BiP co-factor
REFERENCE   4  (bases 1 to 1715)
  AUTHORS   Ichhaporia,V.P., Kim,J., Kavdia,K., Vogel,P., Horner,L., Frase,S.
            and Hendershot,L.M.
  TITLE     SIL1, the endoplasmic-reticulum-localized BiP co-chaperone, plays a
            crucial role in maintaining skeletal muscle proteostasis and
            physiology
  JOURNAL   Dis Model Mech 11 (5) (2018)
   PUBMED   29666155
  REMARK    GeneRIF: these data reveal a disruption in endoplasmic reticulum
            homeostasis upon SIL1 loss, which is countered by multiple
            compensatory responses that are ultimately unsuccessful, leading to
            trans-organellar proteostasis collapse and myopathy.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1715)
  AUTHORS   Hayashi,T., Onozato,T., Wanajo,I., Hayashi,M., Takeda,H. and
            Fujimori,Y.
  TITLE     Longitudinal analysis of motor symptoms and histopathology in woozy
            mice, a model of cerebellar ataxia
  JOURNAL   Neuroreport 28 (13), 779-787 (2017)
   PUBMED   28723727
  REMARK    GeneRIF: The carry a mutation in the Sil1 gene mice showed
            adult-onset ataxia with progressive neurodegeneration of the
            cerebellum. Homozygous wz mice might be useful as an animal model
            of diseases showing adult-onset ataxia because of cerebellar
            neurodegeneration.
REFERENCE   6  (bases 1 to 1715)
  AUTHORS   Senderek,J., Krieger,M., Stendel,C., Bergmann,C., Moser,M.,
            Breitbach-Faller,N., Rudnik-Schoneborn,S., Blaschek,A., Wolf,N.I.,
            Harting,I., North,K., Smith,J., Muntoni,F., Brockington,M.,
            Quijano-Roy,S., Renault,F., Herrmann,R., Hendershot,L.M.,
            Schroder,J.M., Lochmuller,H., Topaloglu,H., Voit,T., Weis,J.,
            Ebinger,F. and Zerres,K.
  TITLE     Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar
            ataxia with cataract and myopathy
  JOURNAL   Nat Genet 37 (12), 1312-1314 (2005)
   PUBMED   16282977
REFERENCE   7  (bases 1 to 1715)
  AUTHORS   Zhao,L., Longo-Guess,C., Harris,B.S., Lee,J.W. and Ackerman,S.L.
  TITLE     Protein accumulation and neurodegeneration in the woozy mutant
            mouse is caused by disruption of SIL1, a cochaperone of BiP
  JOURNAL   Nat Genet 37 (9), 974-979 (2005)
   PUBMED   16116427
REFERENCE   8  (bases 1 to 1715)
  AUTHORS   Nishimura,M., Yokoi,N., Miki,T., Horikawa,Y., Yoshioka,H.,
            Takeda,J., Ohara,O. and Seino,S.
  TITLE     Construction of a multi-functional cDNA library specific for mouse
            pancreatic islets and its application to microarray
  JOURNAL   DNA Res 11 (5), 315-323 (2004)
   PUBMED   15747579
REFERENCE   9  (bases 1 to 1715)
  AUTHORS   Stryke,D., Kawamoto,M., Huang,C.C., Johns,S.J., King,L.A.,
            Harper,C.A., Meng,E.C., Lee,R.E., Yee,A., L'Italien,L.,
            Chuang,P.T., Young,S.G., Skarnes,W.C., Babbitt,P.C. and Ferrin,T.E.
  TITLE     BayGenomics: a resource of insertional mutations in mouse embryonic
            stem cells
  JOURNAL   Nucleic Acids Res 31 (1), 278-281 (2003)
   PUBMED   12520002
REFERENCE   10 (bases 1 to 1715)
  AUTHORS   Tyson,J.R. and Stirling,C.J.
  TITLE     LHS1 and SIL1 provide a lumenal function that is essential for
            protein translocation into the endoplasmic reticulum
  JOURNAL   EMBO J 19 (23), 6440-6452 (2000)
   PUBMED   11101517
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CX219879.1, CO428760.1, BX512650.1 and BP771607.1.
            
            On Sep 3, 2009 this sequence version replaced NM_030749.1.
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Both variants 1 and 2 encode the same 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 :: BC016119.1, AJ297884.1 [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##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-542               CX219879.1         1-542
            543-1141            CO428760.1         86-684
            1142-1645           BX512650.1         14-517
            1646-1715           BP771607.1         27-96               c
FEATURES             Location/Qualifiers
     source          1..1715
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="18"
                     /map="18 18.97 cM"
     gene            1..1715
                     /gene="Sil1"
                     /gene_synonym="1810057E01Rik; wz"
                     /note="SIL1 nucleotide exchange factor"
                     /db_xref="GeneID:81500"
                     /db_xref="MGI:MGI:1932040"
     exon            1..135
                     /gene="Sil1"
                     /gene_synonym="1810057E01Rik; wz"
                     /inference="alignment:Splign:2.1.0"
     exon            136..249
                     /gene="Sil1"
                     /gene_synonym="1810057E01Rik; wz"
                     /inference="alignment:Splign:2.1.0"
     CDS             145..1542
                     /gene="Sil1"
                     /gene_synonym="1810057E01Rik; wz"
                     /note="nucleotide exchange factor SIL1; endoplasmic
                     reticulum chaperone SIL1 homolog"
                     /codon_start=1
                     /product="nucleotide exchange factor SIL1 precursor"
                     /protein_id="NP_109674.2"
                     /db_xref="CCDS:CCDS29140.1"
                     /db_xref="GeneID:81500"
                     /db_xref="MGI:MGI:1932040"
                     /translation="MAPQHLPSTRMASPGMLLGLLLTSCLTLCLSCQNSNNFALTNPE
                     KSIHQESDTKETREEEELDTEILEVFHPTQEWQTLQPGQAVPAGSHVRMNLQTGVNEV
                     KLQQEDKFQNNLKGFKRGRRLDINANTYTSQDLKSALAKFKEGTEMENSKDELARQAT
                     VKQLFRPIEELKKEFDELNVVLETDMQIMVRLINKFNSSSSSLEEKVAALFDLEYYVH
                     QMDNAQDLLSFGGLQVVINGLNSTEPLVKEYAAFVLGAAFSSNPKVQVEAIEGGALQK
                     LLVILATNQPLPAKKKVLFALCSLLRHFPYAQQQFLKLGGLQVLRSLVQEKSAKVLAV
                     RVVTLLYDLVTEKMFAEEEAELTQDSSPEKLQQYRQVQLLPGLQEQGWCEITAQLLAL
                     PEHDAREKVLQTLGALLTTCRDRYRQDLQLSRTLGRLQAEYQALASLELQEGEDDGYF
                     RELLASINSLMKELR"
     exon            250..388
                     /gene="Sil1"
                     /gene_synonym="1810057E01Rik; wz"
                     /inference="alignment:Splign:2.1.0"
     exon            389..509
                     /gene="Sil1"
                     /gene_synonym="1810057E01Rik; wz"
                     /inference="alignment:Splign:2.1.0"
     exon            510..609
                     /gene="Sil1"
                     /gene_synonym="1810057E01Rik; wz"
                     /inference="alignment:Splign:2.1.0"
     exon            610..801
                     /gene="Sil1"
                     /gene_synonym="1810057E01Rik; wz"
                     /inference="alignment:Splign:2.1.0"
     exon            802..923
                     /gene="Sil1"
                     /gene_synonym="1810057E01Rik; wz"
                     /inference="alignment:Splign:2.1.0"
     exon            924..1020
                     /gene="Sil1"
                     /gene_synonym="1810057E01Rik; wz"
                     /inference="alignment:Splign:2.1.0"
     exon            1021..1185
                     /gene="Sil1"
                     /gene_synonym="1810057E01Rik; wz"
                     /inference="alignment:Splign:2.1.0"
     exon            1186..1699
                     /gene="Sil1"
                     /gene_synonym="1810057E01Rik; wz"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1677..1682
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Sil1"
                     /gene_synonym="1810057E01Rik; wz"
                     /note="hexamer: ATTAAA"
     polyA_site      1699
                     /gene="Sil1"
                     /gene_synonym="1810057E01Rik; wz"
                     /note="major polyA site"
ORIGIN      
        1 gtgacgtaat agccacgcgc cttcagcctt cggcagccgc tggacggcgt ttgcgcacga
       61 ggagctggtt gccgctgcag ccgcctggaa ttgtggggat tgtgtctgcc cctcggctgc
      121 cgtggaaagc cgaaggtcct ggttatggct cctcagcacc tgccttcaac taggatggcc
      181 tctccaggaa tgctgctggg gctgctgttg acttcctgtt taactctctg cctcagctgt
      241 cagaactcaa ataattttgc actcaccaac ccagagaaga gcatccacca ggaatcagat
      301 acaaaggaga ccagggaaga ggaggagcta gacaccgaga tcctggaggt gttccaccca
      361 actcaagagt ggcagaccct tcaaccaggt caggctgttc ctgcaggatc ccatgtgcga
      421 atgaacctac agactggagt aaacgaggtg aagctccaac aagaagacaa atttcaaaat
      481 aatctgaaag gatttaaaag aggcagaagg ctggacatca acgccaacac atacacatct
      541 caggacctca agagtgcgct ggccaaattc aaggagggga ccgagatgga gaattcaaag
      601 gatgaactgg cgagacaggc cacagtcaag cagctcttcc gccccattga ggagctgaag
      661 aaggaatttg atgagctgaa cgttgttctt gagactgaca tgcagattat ggttcggctg
      721 ataaacaagt tcaacagctc cagctccagc ctagaagaga aggttgctgc gctctttgat
      781 cttgagtact atgtccatca gatggataac gcacaggacc tgctgtcctt tggtggcctt
      841 caagtggtga ttaatgggct caacagcaca gaacccctgg tgaaggagta tgctgctttt
      901 gtgctggggg ccgccttttc cagcaatccg aaggtccagg tggaagccat cgaaggggga
      961 gccctgcaga agctgctggt catcctggcc acaaaccagc ctctccccgc caagaagaag
     1021 gtcctgtttg cactgtgctc cctgctgcgc cacttcccct atgcccagca gcagttcctg
     1081 aagctcgggg gcctgcaggt cctcaggagc ctggtacagg agaagagtgc gaaggtactg
     1141 gccgtgcgtg tggtcaccct gctctatgac ctggtcactg agaagatgtt tgctgaggag
     1201 gaggcagagt tgacccagga ttcatcccca gagaagctgc agcagtatcg ccaggtgcag
     1261 ctcctgccag gcctgcagga acagggttgg tgtgagatca ccgcccagct cctggccctt
     1321 ccagagcatg atgctcggga gaaggtgctg cagacactgg gtgccctcct gaccacctgc
     1381 cgggatcgct accgtcagga cctccagttg agcaggacac tagggcgtct ccaagcagag
     1441 taccaagccc tggcctccct ggagctccaa gaaggcgaag atgatggcta cttccgggaa
     1501 ctgctggcct ccatcaacag cttgatgaag gaactaagat gaggctgcca tgccgagacc
     1561 aggactggac ggatgctgct agtgagagct ttggtgggct cttcagggga catcaactac
     1621 gaggaggact taacctgctg gggcatgagt gtcacctggg cagagcttgc taggtcatta
     1681 aacagagaca tgatgacaaa aaaaaaaaaa aaaaa
//
