LOCUS       NM_001261418            1796 bp    mRNA    linear   PRI 13-OCT-2024
DEFINITION  Homo sapiens eukaryotic translation initiation factor 2B subunit
            gamma (EIF2B3), transcript variant 3, mRNA.
ACCESSION   NM_001261418
VERSION     NM_001261418.2
KEYWORDS    RefSeq.
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 1796)
  AUTHORS   Lee,Y.R., Kim,S.H., Ben-Mahmoud,A., Kim,O.H., Choi,T.I., Lee,K.H.,
            Ku,B., Eum,J., Kee,Y., Lee,S., Cha,J., Won,D., Lee,S.T., Choi,J.R.,
            Lee,J.S., Kim,H.D., Kim,H.G., Bonkowsky,J.L., Kang,H.C. and
            Kim,C.H.
  TITLE     Eif2b3 mutants recapitulate phenotypes of vanishing white matter
            disease and validate novel disease alleles in zebrafish
  JOURNAL   Hum Mol Genet 30 (5), 331-342 (2021)
   PUBMED   33517449
  REMARK    GeneRIF: Eif2b3 mutants recapitulate phenotypes of vanishing white
            matter disease and validate novel disease alleles in zebrafish.
REFERENCE   2  (bases 1 to 1796)
  AUTHORS   Chen,N., Dai,L., Jiang,Y., Wang,J., Hao,H., Ren,Y., Leng,X.,
            Zang,L. and Wu,Y.
  TITLE     Endoplasmic reticulum stress intolerance in EIF2B3 mutant
            oligodendrocytes is modulated by depressed autophagy
  JOURNAL   Brain Dev 38 (5), 507-515 (2016)
   PUBMED   26625702
  REMARK    GeneRIF: To determine the tolerance differences to ERS, cell
            viability and apoptosis rates were detected in oligodendrocyte cell
            lines transfected with EIF2B3-c.1037T>C or the wild type. We
            confirmed that oligodendrocytes with mutant EIF2B3 was less
            tolerant to ERS than the wild type, with decreased cell viability
            and increased apoptosis rates.
REFERENCE   3  (bases 1 to 1796)
  AUTHORS   Kashiwagi,K., Shigeta,T., Imataka,H., Ito,T. and Yokoyama,S.
  TITLE     Expression, purification, and crystallization of
            Schizosaccharomyces pombe eIF2B
  JOURNAL   J Struct Funct Genomics 17 (1), 33-38 (2016)
   PUBMED   27023709
REFERENCE   4  (bases 1 to 1796)
  AUTHORS   Sekine,Y., Zyryanova,A., Crespillo-Casado,A., Fischer,P.M.,
            Harding,H.P. and Ron,D.
  TITLE     Stress responses. Mutations in a translation initiation factor
            identify the target of a memory-enhancing compound
  JOURNAL   Science 348 (6238), 1027-1030 (2015)
   PUBMED   25858979
REFERENCE   5  (bases 1 to 1796)
  AUTHORS   Kruger,M., Beger,C., Li,Q.X., Welch,P.J., Tritz,R., Leavitt,M.,
            Barber,J.R. and Wong-Staal,F.
  TITLE     Identification of eIF2Bgamma and eIF2gamma as cofactors of
            hepatitis C virus internal ribosome entry site-mediated translation
            using a functional genomics approach
  JOURNAL   Proc Natl Acad Sci U S A 97 (15), 8566-8571 (2000)
   PUBMED   10900014
REFERENCE   6  (bases 1 to 1796)
  AUTHORS   Anthony,T.G., Fabian,J.R., Kimball,S.R. and Jefferson,L.S.
  TITLE     Identification of domains within the epsilon-subunit of the
            translation initiation factor eIF2B that are necessary for guanine
            nucleotide exchange activity and eIF2B holoprotein formation
  JOURNAL   Biochim Biophys Acta 1492 (1), 56-62 (2000)
   PUBMED   10858531
REFERENCE   7  (bases 1 to 1796)
  AUTHORS   Gomez,E. and Pavitt,G.D.
  TITLE     Identification of domains and residues within the epsilon subunit
            of eukaryotic translation initiation factor 2B (eIF2Bepsilon)
            required for guanine nucleotide exchange reveals a novel activation
            function promoted by eIF2B complex formation
  JOURNAL   Mol Cell Biol 20 (11), 3965-3976 (2000)
   PUBMED   10805739
REFERENCE   8  (bases 1 to 1796)
  AUTHORS   Welsh,G.I., Miyamoto,S., Price,N.T., Safer,B. and Proud,C.G.
  TITLE     T-cell activation leads to rapid stimulation of translation
            initiation factor eIF2B and inactivation of glycogen synthase
            kinase-3
  JOURNAL   J Biol Chem 271 (19), 11410-11413 (1996)
   PUBMED   8626696
REFERENCE   9  (bases 1 to 1796)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24501781
REFERENCE   10 (bases 1 to 1796)
  AUTHORS   van der Knaap,M.S., Fogli,A., Boespflug-Tanguy,O., Abbink,T.E.M.
            and Schiffmann,R.
  TITLE     Childhood Ataxia with Central Nervous System Hypomyelination /
            Vanishing White Matter
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301435
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL136380.22 and BC018728.1.
            
            On Aug 14, 2020 this sequence version replaced NM_001261418.1.
            
            Summary: The protein encoded by this gene is one of the subunits of
            initiation factor eIF2B, which catalyzes the exchange of eukaryotic
            initiation factor 2-bound GDP for GTP. It has also been found to
            function as a cofactor of hepatitis C virus internal ribosome entry
            site-mediated translation. Mutations in this gene have been
            associated with leukodystrophy with vanishing white matter.
            Alternatively spliced transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Oct
            2009].
            
            Transcript Variant: This variant (3) lacks the penultimate exon
            compared to variant 1. The resulting protein (isoform 3) is shorter
            compared to isoform 1.
            
            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 :: BC018728.1, SRR14038193.712718.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-15                AL136380.22        162059-162073       c
            16-1579             BC018728.1         1-1564
            1580-1796           AL136380.22        26000-26216         c
FEATURES             Location/Qualifiers
     source          1..1796
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.1"
     gene            1..1796
                     /gene="EIF2B3"
                     /gene_synonym="EIF-2B; EIF2Bgamma; VWM3"
                     /note="eukaryotic translation initiation factor 2B subunit
                     gamma"
                     /db_xref="GeneID:8891"
                     /db_xref="HGNC:HGNC:3259"
                     /db_xref="MIM:606273"
     exon            1..103
                     /gene="EIF2B3"
                     /gene_synonym="EIF-2B; EIF2Bgamma; VWM3"
                     /inference="alignment:Splign:2.1.0"
     exon            104..260
                     /gene="EIF2B3"
                     /gene_synonym="EIF-2B; EIF2Bgamma; VWM3"
                     /inference="alignment:Splign:2.1.0"
     CDS             113..1318
                     /gene="EIF2B3"
                     /gene_synonym="EIF-2B; EIF2Bgamma; VWM3"
                     /note="isoform 3 is encoded by transcript variant 3;
                     translation initiation factor eIF-2B subunit gamma; eIF-2B
                     GDP-GTP exchange factor subunit gamma; eukaryotic
                     translation initiation factor 2B, subunit 3 gamma, 58kDa;
                     eIF2B GDP-GTP exchange factor subunit gamma; translation
                     initiation factor eIF2B subunit gamma"
                     /codon_start=1
                     /product="translation initiation factor eIF2B subunit
                     gamma isoform 3"
                     /protein_id="NP_001248347.1"
                     /db_xref="CCDS:CCDS72775.1"
                     /db_xref="GeneID:8891"
                     /db_xref="HGNC:HGNC:3259"
                     /db_xref="MIM:606273"
                     /translation="MEFQAVVMAVGGGSRMTDLTSSIPKPLLPVGNKPLIWYPLNLLE
                     RVGFEEVIVVTTRDVQKALCAEFKMKMKPDIVCIPDDADMGTADSLRYIYPKLKTDVL
                     VLSCDLITDVALHEVVDLFRAYDASLAMLMRKGQDSIEPVPGQKGKKKAVEQRDFIGV
                     DSTGKRLLFMANEADLDEELVIKGSILQKHPRIRFHTGLVDAHLYCLKKYIVDFLMEN
                     GSITSIRSELIPYLVRKQFSSASSQQGQEEKEEDLKKKELKSLDIYSFIKEANTLNLA
                     PYDACWNACRGDRWEDLSRSQVRCYVHIMKEGLCSRVSTLGLYMEANRQVPKLLSALC
                     PEEPPVHSSAQIVSKHLVGVDSLIGPETQIGEKSSIKRSVIGSSCLIKDRVTITNCLL
                     MNSVTVEEG"
     exon            261..406
                     /gene="EIF2B3"
                     /gene_synonym="EIF-2B; EIF2Bgamma; VWM3"
                     /inference="alignment:Splign:2.1.0"
     exon            407..566
                     /gene="EIF2B3"
                     /gene_synonym="EIF-2B; EIF2Bgamma; VWM3"
                     /inference="alignment:Splign:2.1.0"
     exon            567..678
                     /gene="EIF2B3"
                     /gene_synonym="EIF-2B; EIF2Bgamma; VWM3"
                     /inference="alignment:Splign:2.1.0"
     exon            679..768
                     /gene="EIF2B3"
                     /gene_synonym="EIF-2B; EIF2Bgamma; VWM3"
                     /inference="alignment:Splign:2.1.0"
     exon            769..896
                     /gene="EIF2B3"
                     /gene_synonym="EIF-2B; EIF2Bgamma; VWM3"
                     /inference="alignment:Splign:2.1.0"
     exon            897..1087
                     /gene="EIF2B3"
                     /gene_synonym="EIF-2B; EIF2Bgamma; VWM3"
                     /inference="alignment:Splign:2.1.0"
     exon            1088..1165
                     /gene="EIF2B3"
                     /gene_synonym="EIF-2B; EIF2Bgamma; VWM3"
                     /inference="alignment:Splign:2.1.0"
     exon            1166..1314
                     /gene="EIF2B3"
                     /gene_synonym="EIF-2B; EIF2Bgamma; VWM3"
                     /inference="alignment:Splign:2.1.0"
     exon            1315..1796
                     /gene="EIF2B3"
                     /gene_synonym="EIF-2B; EIF2Bgamma; VWM3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1455..1460
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EIF2B3"
                     /gene_synonym="EIF-2B; EIF2Bgamma; VWM3"
                     /note="hexamer: AATAAA"
     polyA_site      1478
                     /gene="EIF2B3"
                     /gene_synonym="EIF-2B; EIF2Bgamma; VWM3"
                     /note="major polyA site"
     polyA_site      1542
                     /gene="EIF2B3"
                     /gene_synonym="EIF-2B; EIF2Bgamma; VWM3"
ORIGIN      
        1 agaggcggcg tggagatcgc tgggagcggt tgcggcgtgc cgggagctga gttatagctg
       61 tgacttctgc cctgccaggc cgcacacaag ctggctgacc cggtttgtaa aaatggaatt
      121 tcaagcagta gtgatggcag taggtggagg atctcggatg acagacctaa cttccagcat
      181 tcccaaacct ctgcttccag ttgggaacaa acctttaatt tggtacccat tgaacctgct
      241 tgagcgtgtt ggatttgaag aagtcattgt ggttacaacc agggatgttc aaaaggctct
      301 atgtgcagaa ttcaagatga aaatgaagcc agatattgtg tgtattcctg atgacgctga
      361 catgggaact gcagattctt tgcgctacat atatccaaaa cttaagacag atgtgctggt
      421 gctgagctgt gatctgataa cagacgttgc cttacatgag gttgtggacc tgtttagagc
      481 ttatgatgca tcacttgcta tgttgatgag aaaaggccaa gatagcatag aacctgttcc
      541 cggtcaaaag gggaaaaaaa aagcagtgga gcagcgtgac ttcattggag tggacagcac
      601 aggaaagagg ctgctcttca tggctaatga agcagacttg gatgaagagc tggtcattaa
      661 gggatccatc ctacagaagc atcctagaat acgtttccac acgggtcttg tggatgccca
      721 cctctactgt ttgaaaaaat acatcgtgga tttcctaatg gaaaatgggt caataacttc
      781 tatccggagt gaactgattc catatttagt gagaaaacag ttttcctcag cttcctcaca
      841 acagggacaa gaagaaaaag aggaggatct aaagaaaaag gagctgaagt ccttagatat
      901 ctacagtttt ataaaagaag ccaatacact gaacctggct ccctatgatg cctgctggaa
      961 tgcctgtcga ggagacaggt gggaagactt gtccagatca caggtgcgct gctatgtcca
     1021 catcatgaaa gaggggctct gctctcgagt gagcacactg ggactctaca tggaagcaaa
     1081 cagacaggtg cccaaattgc tgtctgctct ctgtccagaa gaaccaccag tccattcgtc
     1141 agcccagatt gtcagcaaac acctggttgg agttgacagc ctcattgggc cagagacaca
     1201 gattggagag aagtcatcca ttaagcgctc agtcattggc tcatcctgtc tcataaaaga
     1261 tagagtgact attaccaatt gccttctcat gaactcagtc actgtggagg aaggctaaac
     1321 gagtgaatga ggtgatcgtg gggaatgacc agctcatgga gatctgagtt ctgagcaagt
     1381 cagactcctt ccttttggcc tccaaagcca cagatgttgg ccggcccacc tgtttaactc
     1441 tgtatttatt tcccaataaa gaagggcttc caaaggcatg ctggagactt gtggagcagt
     1501 ccaaagctcc atgtcaggtg ggctccaggt gtacacagtg tatgttcatg tgtcatgtgg
     1561 taaagatcat ctggagcaag tgtgtgggac aggacagata cagtggccta actcttgtgt
     1621 gccaagatgt atcggtgggg cagcagctgt ccaatgtaaa gctcctagga aggctacttt
     1681 ctgactggct gacccaaccc agtcctgaaa gtatccctca cctaaaagga cctgggagta
     1741 cttcagtccc ttatcctaat cagcctttct agacccatag gcctagctgc tggcag
//
