LOCUS       NM_001417002            2498 bp    mRNA    linear   ROD 28-JAN-2025
DEFINITION  Mus musculus eukaryotic translation initiation factor 2B, subunit 5
            epsilon (Eif2b5), transcript variant 2, mRNA.
ACCESSION   NM_001417002
VERSION     NM_001417002.1
KEYWORDS    RefSeq.
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 2498)
  AUTHORS   Yulyaningsih,E., Suh,J.H., Fanok,M., Chau,R., Solanoy,H.,
            Takahashi,R., Bakardjiev,A.I., Becerra,I., Benitez,N.B., Chiu,C.L.,
            Davis,S.S., Dowdle,W.E., Earr,T., Estrada,A.A., Gill,A., Ha,C.,
            Haddick,P.C.G., Henne,K.R., Larhammar,M., Leung,A.W., Maciuca,R.,
            Memarzadeh,B., Nguyen,H.N., Nugent,A.A., Osipov,M., Ran,Y.,
            Rebadulla,K., Roche,E., Sandmann,T., Wang,J., Lewcock,J.W.,
            Scearce-Levie,K., Kane,L.A. and Sanchez,P.E.
  TITLE     DNL343 is an investigational CNS penetrant eukaryotic initiation
            factor 2B activator that prevents and reverses the effects of
            neurodegeneration caused by the integrated stress response
  JOURNAL   Elife 12, 92173 (2024)
   PUBMED   39287504
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2498)
  AUTHORS   Bock,D., Revers,I.M., Bomhof,A.S.J., Hillen,A.E.J., Boeijink,C.,
            Kissling,L., Egli,S., Moreno-Mateos,M.A., van der Knaap,M.S., van
            Til,N.P. and Schwank,G.
  TITLE     In vivo base editing of a pathogenic Eif2b5 variant improves
            vanishing white matter phenotypes in mice
  JOURNAL   Mol Ther 32 (5), 1328-1343 (2024)
   PUBMED   38454603
  REMARK    GeneRIF: In vivo base editing of a pathogenic Eif2b5 variant
            improves vanishing white matter phenotypes in mice.
REFERENCE   3  (bases 1 to 2498)
  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   4  (bases 1 to 2498)
  AUTHORS   Witkamp,D., Oudejans,E., Hoogterp,L., Hu-A-Ng,G.V., Glaittli,K.A.,
            Stevenson,T.J., Huijsmans,M., Abbink,T.E.M., van der Knaap,M.S. and
            Bonkowsky,J.L.
  TITLE     Lithium: effects in animal models of vanishing white matter are not
            promising
  JOURNAL   Front Neurosci 18, 1275744 (2024)
   PUBMED   38352041
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2498)
  AUTHORS   Oudejans,E., Witkamp,D., Hu-A-Ng,G.V., Hoogterp,L., van Rooijen-van
            Leeuwen,G., Kruijff,I., Schonewille,P., Lalaoui El Mouttalibi,Z.,
            Bartelink,I., van der Knaap,M.S. and Abbink,T.E.
  TITLE     Pridopidine subtly ameliorates motor skills in a mouse model for
            vanishing white matter
  JOURNAL   Life Sci Alliance 7 (3), e202302199 (2024)
   PUBMED   38171595
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2498)
  AUTHORS   Mayhew,D.L., Hornberger,T.A., Lincoln,H.C. and Bamman,M.M.
  TITLE     Eukaryotic initiation factor 2B epsilon induces cap-dependent
            translation and skeletal muscle hypertrophy
  JOURNAL   J Physiol 589 (Pt 12), 3023-3037 (2011)
   PUBMED   21486778
REFERENCE   7  (bases 1 to 2498)
  AUTHORS   Geva,M., Cabilly,Y., Assaf,Y., Mindroul,N., Marom,L., Raini,G.,
            Pinchasi,D. and Elroy-Stein,O.
  TITLE     A mouse model for eukaryotic translation initiation factor
            2B-leucodystrophy reveals abnormal development of brain white
            matter
  JOURNAL   Brain 133 (Pt 8), 2448-2461 (2010)
   PUBMED   20826436
  REMARK    GeneRIF: mouse model of EIF2B-related leukodystrophy; findings
            provide evidence that hypomorphic Eif2b5 alleles lead to delayed
            and abnormal development and maintenance of CNS white matter
REFERENCE   8  (bases 1 to 2498)
  AUTHORS   Mariappan,M.M., Shetty,M., Sataranatarajan,K., Choudhury,G.G. and
            Kasinath,B.S.
  TITLE     Glycogen synthase kinase 3beta is a novel regulator of high
            glucose- and high insulin-induced extracellular matrix protein
            synthesis in renal proximal tubular epithelial cells
  JOURNAL   J Biol Chem 283 (45), 30566-30575 (2008)
   PUBMED   18701453
  REMARK    GeneRIF: inactivation of glycogen synthase kinase 3beta (GSK3beta)
            by high glucose and high insulin induces increase in synthesis of
            laminin beta1 via activation of eIF2Bepsilon.
REFERENCE   9  (bases 1 to 2498)
  AUTHORS   Sans,M.D., DiMagno,M.J., D'Alecy,L.G. and Williams,J.A.
  TITLE     Caerulein-induced acute pancreatitis inhibits protein synthesis
            through effects on eIF2B and eIF4F
  JOURNAL   Am J Physiol Gastrointest Liver Physiol 285 (3), G517-G528 (2003)
   PUBMED   12773302
  REMARK    GeneRIF: Inhibition of pancreatic protein synthesis in this model
            of acute pancreatitis most likely results from inhibition of
            translation initiation from increased eIF2alpha phosphorylation,
            reduction of eIF2B activity, and inhibition of eIF4F complex
            formation.
REFERENCE   10 (bases 1 to 2498)
  AUTHORS   Kimball,S.R., Horetsky,R.L., Ron,D., Jefferson,L.S. and
            Harding,H.P.
  TITLE     Mammalian stress granules represent sites of accumulation of
            stalled translation initiation complexes
  JOURNAL   Am J Physiol Cell Physiol 284 (2), C273-C284 (2003)
   PUBMED   12388085
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC161756.3.
            
            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 :: SRR10662772.1157665.1,
                                           SRR7345562.3717092.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN01164131, SAMN01164134
                                           [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-206               AC161756.3         15700-15905         c
            207-331             AC161756.3         14487-14611         c
            332-517             AC161756.3         13247-13432         c
            518-695             AC161756.3         12989-13166         c
            696-776             AC161756.3         12812-12892         c
            777-854             AC161756.3         12476-12553         c
            855-1167            AC161756.3         11954-12266         c
            1168-1313           AC161756.3         10006-10151         c
            1314-1473           AC161756.3         9438-9597           c
            1474-1575           AC161756.3         9233-9334           c
            1576-1683           AC161756.3         8561-8668           c
            1684-1774           AC161756.3         8325-8415           c
            1775-1898           AC161756.3         7665-7788           c
            1899-2024           AC161756.3         6643-6768           c
            2025-2135           AC161756.3         5977-6087           c
            2136-2498           AC161756.3         5473-5835           c
FEATURES             Location/Qualifiers
     source          1..2498
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="16"
                     /map="16 12.45 cM"
     gene            1..2498
                     /gene="Eif2b5"
                     /note="eukaryotic translation initiation factor 2B,
                     subunit 5 epsilon"
                     /db_xref="GeneID:224045"
                     /db_xref="MGI:MGI:2446176"
     exon            1..206
                     /gene="Eif2b5"
                     /inference="alignment:Splign:2.1.0"
     CDS             24..2195
                     /gene="Eif2b5"
                     /note="isoform 2 is encoded by transcript variant 2;
                     translation initiation factor eIF-2B subunit epsilon;
                     eIF-2B GDP-GTP exchange factor subunit epsilon; eIF2B
                     GDP-GTP exchange factor subunit epsilon; translation
                     initiation factor eIF2B subunit epsilon"
                     /codon_start=1
                     /product="translation initiation factor eIF2B subunit
                     epsilon isoform 2"
                     /protein_id="NP_001403931.1"
                     /db_xref="GeneID:224045"
                     /db_xref="MGI:MGI:2446176"
                     /translation="MAATAAVPGAAAGRASKRGGGGSGGGGTQGAEEEPPPPLQAVLV
                     ADSFNRRFFPISKDQPRVLLPLANVALIDYTLEFLTATGVQETFVFCCWKAAQIKEHL
                     QKSKWCHPTSPNVVRIITSELYRSLGDVLRDVDAKALVRSDFLLIYGDVISNINICRA
                     LEEHRLRRKLEKNVSVMTMVFKESSPSHPTRCHEDNVVMAVDSATNRVLHFQKTQGLR
                     RFSFPLSLFQGSGDGVEIRYDLLDCHISICSPQVAQLFTDNFDYQTRDDFVRGILMNE
                     EVLGNQIHLHVTTREYGARVSNLHMYSAVCADVIRRWVYPLTPEVNFTDSTTQSYTHS
                     RHNIYRGPEVSLGHGSVLEENVLLGAGTVIGSNCSITNSVIGPNCHIGDNVVLDQAYL
                     WQGVRVAAGAQIHQSLLCDRAEVKERVKLKPYCVLTSQVVVGPDITLPEGSVISLHPP
                     DAEEDEDDGQFSDDSGADQEKEKVKLKGVRLNRCYNPAEVGLEGQGYLWKAEGVNSKE
                     DEELRQSLWGLMIKTEEESETESEGSVDPEELDSRAGSPQLDDIRVFQNEVLGTLQRG
                     REENISCENLVLEINSLKHAYNISLKEVMQVLTLVVLEFPLQQVDGLLDPNRYCALLL
                     PLLKAWSPVLRNYIKRAADHLEALAAIEDFFLEHETLVTSMAKVLMAFYQLEILAEET
                     ILSWFSQRDTTDEGQQLRKNQQLQRFIQWLREAEEESSEDD"
     exon            207..331
                     /gene="Eif2b5"
                     /inference="alignment:Splign:2.1.0"
     exon            332..517
                     /gene="Eif2b5"
                     /inference="alignment:Splign:2.1.0"
     exon            518..695
                     /gene="Eif2b5"
                     /inference="alignment:Splign:2.1.0"
     exon            696..776
                     /gene="Eif2b5"
                     /inference="alignment:Splign:2.1.0"
     exon            777..854
                     /gene="Eif2b5"
                     /inference="alignment:Splign:2.1.0"
     exon            855..1167
                     /gene="Eif2b5"
                     /inference="alignment:Splign:2.1.0"
     exon            1168..1313
                     /gene="Eif2b5"
                     /inference="alignment:Splign:2.1.0"
     exon            1314..1473
                     /gene="Eif2b5"
                     /inference="alignment:Splign:2.1.0"
     exon            1474..1575
                     /gene="Eif2b5"
                     /inference="alignment:Splign:2.1.0"
     exon            1576..1683
                     /gene="Eif2b5"
                     /inference="alignment:Splign:2.1.0"
     exon            1684..1774
                     /gene="Eif2b5"
                     /inference="alignment:Splign:2.1.0"
     exon            1775..1898
                     /gene="Eif2b5"
                     /inference="alignment:Splign:2.1.0"
     exon            1899..2024
                     /gene="Eif2b5"
                     /inference="alignment:Splign:2.1.0"
     exon            2025..2135
                     /gene="Eif2b5"
                     /inference="alignment:Splign:2.1.0"
     exon            2136..2498
                     /gene="Eif2b5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2476..2481
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Eif2b5"
                     /note="hexamer: AGTAAA"
     polyA_site      2498
                     /gene="Eif2b5"
                     /note="major polyA site"
ORIGIN      
        1 ggacgtgctg gctgcgaagc aagatggcag ccactgcggc ggtgcctggc gctgcggccg
       61 gccgagcgag caaacgcggc ggcggcggct cgggcggcgg gggaacccaa ggtgcggagg
      121 aggagccgcc gccgcccctc caggcagttc tagtggccga tagcttcaac cgccgcttct
      181 tccccatctc caaggaccag cctcgggtcc tcttgcccct ggccaacgtt gcgctaattg
      241 actatactct ggagttcctg actgccacgg gtgtacagga aacatttgtc ttttgctgct
      301 ggaaagctgc tcagatcaaa gaacacttac agaaatccaa gtggtgccat cctacgtccc
      361 ccaacgttgt tcggataatc acatcagagc tataccgatc actaggagac gtcctccgtg
      421 acgtcgatgc caaggccttg gtgcgctctg actttctctt gatatatgga gatgtcatct
      481 caaatatcaa tatctgcaga gccctggagg aacacaggtt aagaaggaag ctagaaaaaa
      541 atgtctctgt gatgacaatg gtcttcaaag agtcgtcacc cagccaccct acacgctgcc
      601 atgaggacaa cgtggtgatg gctgtggaca gcgccaccaa cagggttctt cacttccaga
      661 agacccaagg cctccggcgc ttttcctttc cattgagcct gttccagggc agtggagacg
      721 gagtggagat tcgatatgat ttgttggact gtcacatcag catctgctct cctcaggtag
      781 ctcagctctt cacagacaat tttgactacc aaactcgaga tgattttgta cgaggcatat
      841 taatgaatga ggaggtccta ggaaaccaga ttcacttgca tgtgacaact agggaatatg
      901 gtgcccgggt ctccaaccta cacatgtact cagctgtttg tgctgacgtc atccgccgat
      961 gggtctaccc tctcactcca gaagtaaact tcactgacag caccacccag agctacactc
     1021 attcccgaca caacatctac cgagggcctg aagtcagcct gggccatggc agcgtcctgg
     1081 aggaaaatgt gcttttggga gctggcactg tcatcggcag caactgctcc atcaccaaca
     1141 gtgtcatcgg ccctaactgc catattggtg ataatgtggt actggaccag gcctacctgt
     1201 ggcagggagt tcgagtggct gctggagcac aaatacacca atctctgctc tgtgacagag
     1261 ctgaggtcaa ggagcgagtc aaactgaagc catactgtgt tctcacttcc caggtggtag
     1321 tgggcccaga catcacgctg ccggagggct cggtgatctc tttgcatcct ccagatgcag
     1381 aggaagatga agatgatggc cagtttagtg atgattctgg agctgaccaa gaaaaggaga
     1441 aagtgaagct gaaaggtgtg aggctcaaca ggtgttacaa tccagcagaa gttggccttg
     1501 aaggccaggg atacctctgg aaagctgagg gtgtgaactc gaaagaagat gaggagctac
     1561 ggcagagtct ctggggactc atgatcaaga cggaggagga aagtgagact gaaagtgagg
     1621 gaagtgtgga tcctgaggag ctggacagcc gagcaggctc ccctcagctg gatgacatca
     1681 gagttttcca gaacgaggtc ctgggaacgc tgcagcgggg cagagaggag aacatctcct
     1741 gtgaaaatct agtcctggag atcaactctc tcaagcatgc ctacaacatt agcctaaagg
     1801 aagtgatgca ggtcctgacc cttgtagtcc tggagttccc cctgcaacaa gtcgatggcc
     1861 tgcttgaccc aaaccgctac tgtgccttgc tgcttcctct gctcaaagcc tggagccctg
     1921 ttttaaggaa ctacataaag cgtgcagctg accacttgga agcattggca gccattgagg
     1981 acttcttctt ggaacatgaa actctcgtta cttccatggc caaggtcctg atggctttct
     2041 accagctgga gatcttggct gaggaaacaa tcttgagctg gttcagccaa agagacacaa
     2101 ctgacgaagg ccagcagtta cggaagaatc aacagctgca gaggttcatc cagtggctga
     2161 gagaggcaga agaagagtca tccgaagatg actgatggtg actgccagat ccgtgcatct
     2221 cattggctgt cctcgtaaca agagagctga cagaaagcta gctacagaag catgagtggc
     2281 cacggcagac tgagaattat tggaacggaa gttgcaacta cagtattctt cctactgctg
     2341 gcagccatgt gctgctcgtc ctgactgaag ttaggatgag ggaagttaga ctgcgttagg
     2401 ggaactctag acagaccctg cagttggggg tgggccagag taagtacttt gtgttccagc
     2461 tttcccttgg ggaacagtaa agagcagctg gtcctctc
//
