LOCUS       NM_001415               3457 bp    mRNA    linear   PRI 27-APR-2025
DEFINITION  Homo sapiens eukaryotic translation initiation factor 2 subunit
            gamma (EIF2S3), mRNA.
ACCESSION   NM_001415
VERSION     NM_001415.4
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 3457)
  AUTHORS   Cardenal Peralta,C., Vandroux,P., Neumann-Arnold,L., Panvert,M.,
            Fagart,J., Seufert,W., Mechulam,Y. and Schmitt,E.
  TITLE     Binding of human Cdc123 to eIF2gamma
  JOURNAL   J Struct Biol 215 (3), 108006 (2023)
   PUBMED   37507029
  REMARK    GeneRIF: Binding of human Cdc123 to eIF2gamma.
REFERENCE   2  (bases 1 to 3457)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   3  (bases 1 to 3457)
  AUTHORS   Ivanova,N., Serzhanova,V., Demina,N., Guseva,D. and Skoblov,M.
  TITLE     mRNA analysis revealed a novel pathogenic EIF2S3 variant causing
            MEHMO syndrome
  JOURNAL   Eur J Med Genet 65 (2), 104421 (2022)
   PUBMED   34999262
  REMARK    GeneRIF: mRNA analysis revealed a novel pathogenic EIF2S3 variant
            causing MEHMO syndrome.
REFERENCE   4  (bases 1 to 3457)
  AUTHORS   Lu,J., Chen,S., Tan,H., Huang,Z., Li,B., Liu,L., Chen,Y., Zeng,X.,
            Zou,Y. and Xu,L.
  TITLE     Eukaryotic initiation factor-2, gamma subunit, suppresses
            proliferation and regulates the cell cycle via the MAPK/ERK
            signaling pathway in acute myeloid leukemia
  JOURNAL   J Cancer Res Clin Oncol 147 (11), 3157-3168 (2021)
   PUBMED   34232382
  REMARK    GeneRIF: Eukaryotic initiation factor-2, gamma subunit, suppresses
            proliferation and regulates the cell cycle via the MAPK/ERK
            signaling pathway in acute myeloid leukemia.
REFERENCE   5  (bases 1 to 3457)
  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   6  (bases 1 to 3457)
  AUTHORS   Ehrmann,I.E., Ellis,P.S., Mazeyrat,S., Duthie,S., Brockdorff,N.,
            Mattei,M.G., Gavin,M.A., Affara,N.A., Brown,G.M., Simpson,E.,
            Mitchell,M.J. and Scott,D.M.
  TITLE     Characterization of genes encoding translation initiation factor
            eIF-2gamma in mouse and human: sex chromosome localization, escape
            from X-inactivation and evolution
  JOURNAL   Hum Mol Genet 7 (11), 1725-1737 (1998)
   PUBMED   9736774
REFERENCE   7  (bases 1 to 3457)
  AUTHORS   Brand,S.R., Kobayashi,R. and Mathews,M.B.
  TITLE     The Tat protein of human immunodeficiency virus type 1 is a
            substrate and inhibitor of the interferon-induced, virally
            activated protein kinase, PKR
  JOURNAL   J Biol Chem 272 (13), 8388-8395 (1997)
   PUBMED   9079663
REFERENCE   8  (bases 1 to 3457)
  AUTHORS   Gaspar,N.J., Kinzy,T.G., Scherer,B.J., Humbelin,M., Hershey,J.W.
            and Merrick,W.C.
  TITLE     Translation initiation factor eIF-2. Cloning and expression of the
            human cDNA encoding the gamma-subunit
  JOURNAL   J Biol Chem 269 (5), 3415-3422 (1994)
   PUBMED   8106381
REFERENCE   9  (bases 1 to 3457)
  AUTHORS   Ray,M.K., Chakraborty,A., Datta,B., Chattopadhyay,A., Saha,D.,
            Bose,A., Kinzy,T.G., Wu,S., Hileman,R.E., Merrick,W.C. et al.
  TITLE     Characteristics of the eukaryotic initiation factor 2 associated
            67-kDa polypeptide
  JOURNAL   Biochemistry 32 (19), 5151-5159 (1993)
   PUBMED   8098621
REFERENCE   10 (bases 1 to 3457)
  AUTHORS   Safer,B., Adams,S.L., Anderson,W.F. and Merrick,W.C.
  TITLE     Binding of MET-TRNAf and GTP to homogeneous initiation factor MP
  JOURNAL   J Biol Chem 250 (23), 9076-9082 (1975)
   PUBMED   1104615
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from BC019906.1, BC011945.1, AI133612.1, BF435665.1 and
            CB150474.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001415.3.
            
            Summary: The protein encoded by this gene is the largest subunit of
            a heterotrimeric GTP-binding protein involved in the recruitment of
            methionyl-tRNA(i) to the 40 S ribosomal subunit. [provided by
            RefSeq, Jan 2010].
            
            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 :: SRR1660803.218577.1,
                                           SRR1660807.237157.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000253039.9/ ENSP00000253039.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1588              BC019906.1         9-1596
            1589-2618           BC011945.1         523-1552
            2619-3052           AI133612.1         1-434               c
            3053-3453           BF435665.1         7-407               c
            3454-3457           CB150474.1         362-365
FEATURES             Location/Qualifiers
     source          1..3457
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.11"
     gene            1..3457
                     /gene="EIF2S3"
                     /gene_synonym="eIF-2gA; EIF2; EIF2G; EIF2gamma; eIF2gX;
                     MEHMO; MRXSBRK"
                     /note="eukaryotic translation initiation factor 2 subunit
                     gamma"
                     /db_xref="GeneID:1968"
                     /db_xref="HGNC:HGNC:3267"
                     /db_xref="MIM:300161"
     exon            1..82
                     /gene="EIF2S3"
                     /gene_synonym="eIF-2gA; EIF2; EIF2G; EIF2gamma; eIF2gX;
                     MEHMO; MRXSBRK"
                     /inference="alignment:Splign:2.1.0"
     CDS             14..1432
                     /gene="EIF2S3"
                     /gene_synonym="eIF-2gA; EIF2; EIF2G; EIF2gamma; eIF2gX;
                     MEHMO; MRXSBRK"
                     /EC_number="3.6.5.3"
                     /note="eukaryotic translation initiation factor 2G;
                     eIF-2gX; eIF2-gamma X; eIF-2-gamma X; eukaryotic
                     translation initiation factor 2 subunit gamma X;
                     eukaryotic translation initiation factor 2, subunit 3
                     gamma, 52kDa; mental retardation, epileptic seizures,
                     hypogonadism and -genitalism, microcephaly and obesity
                     syndrome"
                     /codon_start=1
                     /product="eukaryotic translation initiation factor 2
                     subunit 3"
                     /protein_id="NP_001406.1"
                     /db_xref="CCDS:CCDS14210.1"
                     /db_xref="GeneID:1968"
                     /db_xref="HGNC:HGNC:3267"
                     /db_xref="MIM:300161"
                     /translation="MAGGEAGVTLGQPHLSRQDLTTLDVTKLTPLSHEVISRQATINI
                     GTIGHVAHGKSTVVKAISGVHTVRFKNELERNITIKLGYANAKIYKLDDPSCPRPECY
                     RSCGSSTPDEFPTDIPGTKGNFKLVRHVSFVDCPGHDILMATMLNGAAVMDAALLLIA
                     GNESCPQPQTSEHLAAIEIMKLKHILILQNKIDLVKESQAKEQYEQILAFVQGTVAEG
                     APIIPISAQLKYNIEVVCEYIVKKIPVPPRDFTSEPRLIVIRSFDVNKPGCEVDDLKG
                     GVAGGSILKGVLKVGQEIEVRPGIVSKDSEGKLMCKPIFSKIVSLFAEHNDLQYAAPG
                     GLIGVGTKIDPTLCRADRMVGQVLGAVGALPEIFTELEISYFLLRRLLGVRTEGDKKA
                     AKVQKLSKNEVLMVNIGSLSTGGRVSAVKADLGKIVLTNPVCTEVGEKIALSRRVEKH
                     WRLIGWGQIRRGVTIKPTVDDD"
     exon            83..146
                     /gene="EIF2S3"
                     /gene_synonym="eIF-2gA; EIF2; EIF2G; EIF2gamma; eIF2gX;
                     MEHMO; MRXSBRK"
                     /inference="alignment:Splign:2.1.0"
     exon            147..274
                     /gene="EIF2S3"
                     /gene_synonym="eIF-2gA; EIF2; EIF2G; EIF2gamma; eIF2gX;
                     MEHMO; MRXSBRK"
                     /inference="alignment:Splign:2.1.0"
     exon            275..396
                     /gene="EIF2S3"
                     /gene_synonym="eIF-2gA; EIF2; EIF2G; EIF2gamma; eIF2gX;
                     MEHMO; MRXSBRK"
                     /inference="alignment:Splign:2.1.0"
     exon            397..491
                     /gene="EIF2S3"
                     /gene_synonym="eIF-2gA; EIF2; EIF2G; EIF2gamma; eIF2gX;
                     MEHMO; MRXSBRK"
                     /inference="alignment:Splign:2.1.0"
     exon            492..650
                     /gene="EIF2S3"
                     /gene_synonym="eIF-2gA; EIF2; EIF2G; EIF2gamma; eIF2gX;
                     MEHMO; MRXSBRK"
                     /inference="alignment:Splign:2.1.0"
     exon            651..785
                     /gene="EIF2S3"
                     /gene_synonym="eIF-2gA; EIF2; EIF2G; EIF2gamma; eIF2gX;
                     MEHMO; MRXSBRK"
                     /inference="alignment:Splign:2.1.0"
     exon            786..880
                     /gene="EIF2S3"
                     /gene_synonym="eIF-2gA; EIF2; EIF2G; EIF2gamma; eIF2gX;
                     MEHMO; MRXSBRK"
                     /inference="alignment:Splign:2.1.0"
     exon            881..1025
                     /gene="EIF2S3"
                     /gene_synonym="eIF-2gA; EIF2; EIF2G; EIF2gamma; eIF2gX;
                     MEHMO; MRXSBRK"
                     /inference="alignment:Splign:2.1.0"
     exon            1026..1195
                     /gene="EIF2S3"
                     /gene_synonym="eIF-2gA; EIF2; EIF2G; EIF2gamma; eIF2gX;
                     MEHMO; MRXSBRK"
                     /inference="alignment:Splign:2.1.0"
     exon            1196..1368
                     /gene="EIF2S3"
                     /gene_synonym="eIF-2gA; EIF2; EIF2G; EIF2gamma; eIF2gX;
                     MEHMO; MRXSBRK"
                     /inference="alignment:Splign:2.1.0"
     exon            1369..3457
                     /gene="EIF2S3"
                     /gene_synonym="eIF-2gA; EIF2; EIF2G; EIF2gamma; eIF2gX;
                     MEHMO; MRXSBRK"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2093..2098
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EIF2S3"
                     /gene_synonym="eIF-2gA; EIF2; EIF2G; EIF2gamma; eIF2gX;
                     MEHMO; MRXSBRK"
                     /note="hexamer: AATAAA"
     polyA_site      2115
                     /gene="EIF2S3"
                     /gene_synonym="eIF-2gA; EIF2; EIF2G; EIF2gamma; eIF2gX;
                     MEHMO; MRXSBRK"
     regulatory      2597..2602
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EIF2S3"
                     /gene_synonym="eIF-2gA; EIF2; EIF2G; EIF2gamma; eIF2gX;
                     MEHMO; MRXSBRK"
                     /note="hexamer: AGTAAA"
     polyA_site      2618
                     /gene="EIF2S3"
                     /gene_synonym="eIF-2gA; EIF2; EIF2G; EIF2gamma; eIF2gX;
                     MEHMO; MRXSBRK"
                     /note="major polyA site"
     regulatory      3432..3437
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EIF2S3"
                     /gene_synonym="eIF-2gA; EIF2; EIF2G; EIF2gamma; eIF2gX;
                     MEHMO; MRXSBRK"
                     /note="hexamer: AATAAA"
     polyA_site      3457
                     /gene="EIF2S3"
                     /gene_synonym="eIF-2gA; EIF2; EIF2G; EIF2gamma; eIF2gX;
                     MEHMO; MRXSBRK"
                     /note="major polyA site"
ORIGIN      
        1 ctcttttggc aacatggcgg gcggagaagc tggagtgact ctagggcagc cgcatctttc
       61 gcgtcaggat ctcaccacct tggatgttac caagttgacg ccactttcac acgaagttat
      121 cagcagacaa gccacaatta acataggtac aattggtcat gtagctcatg ggaaatccac
      181 agtcgtcaaa gctatttctg gagttcatac tgtcaggttc aaaaatgaac tagaaagaaa
      241 tattacaatc aagcttggat atgctaatgc taagatttat aagcttgatg acccaagttg
      301 ccctcggcca gaatgttata gatcttgtgg gagcagtaca cctgacgagt ttcctacgga
      361 cattccaggg accaaaggga acttcaaatt agtcagacat gtttcctttg ttgactgtcc
      421 tggccacgat attttgatgg ctactatgct gaacggtgca gcagtgatgg atgcagctct
      481 tctgttgata gctggtaatg aatcttgccc tcagcctcag acatcggaac acctggctgc
      541 tatagagatc atgaaactga agcatatttt gattctacaa aataaaattg atttggtaaa
      601 agaaagtcag gctaaagaac aatacgagca gatccttgca tttgtccaag gtacagtagc
      661 agagggagct cccattattc caatttcagc tcagctgaaa tacaatattg aagttgtttg
      721 tgagtacata gtaaagaaaa ttccagtacc cccaagagac tttacttcag agccccggct
      781 tattgttatt agatcttttg atgtcaacaa acctggctgt gaagttgatg accttaaggg
      841 aggtgtagct ggtggtagta tcctaaaagg agtattaaag gtgggccagg agatagaagt
      901 aagacctggt attgtttcca aagatagtga aggaaaactc atgtgtaaac caatcttttc
      961 caaaattgta tcactttttg cggagcataa tgatctgcaa tatgctgctc caggcggtct
     1021 tattggagtt ggaacaaaaa ttgaccccac tttgtgccgg gctgacagaa tggtggggca
     1081 agtacttggt gcagtcggag ctttacctga gatattcaca gaattggaaa tttcctattt
     1141 cctgcttaga cggcttctag gtgtacgcac tgaaggagac aagaaagcag caaaggttca
     1201 aaagctgtct aagaatgaag tgctcatggt gaacatagga tccctgtcaa caggagggag
     1261 agttagtgct gtcaaggccg atttgggtaa aattgttttg accaatccag tgtgcacaga
     1321 ggtaggagaa aaaattgccc ttagccgaag agttgaaaaa cactggcgtt taattggttg
     1381 gggtcagata agaagaggag tgacaatcaa gccaacagta gatgatgact gaagaatacc
     1441 agttaaataa tacattcgga tggatttgga agttggaatt cctcttaaca accaaggggt
     1501 ttattttcaa agcaatattg gggaattgat ttcacagttc gttaccttag taggtaacgg
     1561 taaggttatt ctcttttttt tttttttttt ttttggttat gaaaacttag ggactaaaat
     1621 taatataaaa attggcataa tgttggattg aatctacatt ttggcagaag ttaaacattc
     1681 ccacataatg tcaaaattat acatcatgca gttctgtttt tttgtttgtt ttattttgtt
     1741 ttgtttttga gtctggctct gtcacccagg ctggagtgca gtggcgtgat ctgcaacctc
     1801 tgccccccgg gttcaagcga ttctcctgcc tcagcctccc gagtagctga gattacaggt
     1861 gcgcgccacc acacttggct aatttttgta ttattagtag agacggggtt tcagcatgtt
     1921 ggctaggccg gtctctcctg acctcagggt gatcagccca cctcggcctc acaaagtgct
     1981 gggattacag gcgtgagcca ccttgcccag cccacatcat acagtttgaa atgaaacttt
     2041 gccacaacca gcctttgctg tagcacacac atatatcact gaacctgttt gaaataaagt
     2101 tttttttctt tttcatgatt cgtctttgag tacctccagg ctgaaagact gttgtaccag
     2161 taaaaactta aaggcacaaa ttctccttga agaccttctc ccttttatgt ggccccatat
     2221 tttatgttgc tttatctttg aaattttgca tgaaaaggaa atgaatggat tcgaatgaaa
     2281 ttgtccttta gagcatgatt acttgttccc atggacaaat atttttctcc ccttgctctt
     2341 cctggcctga aacacgggaa accagagtca aaagttatct ccctctccct gtgatgcctt
     2401 gagatttttt tctgcgttgt ttaatgcctg aaatccaagt cttcctccat gggaaaatac
     2461 tgttatacca aataattcta gatgagtaac aaagatcttt ttaggccttc attttatgtt
     2521 ttttcttaac tgttatatta tgattgtgac atagattata ctactactaa tttttggatg
     2581 tttcaaaagg tcaagaagta aaagatgtta gaaagcaatg agtgagtcct tttgattttt
     2641 aacttattcc ccatgtccct atacttcgtg tgcttttcct tttttttttt gagacggagg
     2701 ctcactccgt cacctaggct agagtacagt ggcacgatct tggctcgctg caacctctgc
     2761 ctccctgatt caagtgattc tcgtgcttca gcctcccatg tagctgatat tacaggcact
     2821 tgccaccata cccggctaat ttttgtattt ttagtagaga tggggtttca ccatgttgcc
     2881 caggctggtc ttgaactcct aacctcaggt gatccgcccg cctctgcctt ccaaagtgct
     2941 gggattacag gcgtgagcca ctctgcccgg cttatttttc tttatgtttt tgcttcgtaa
     3001 gaggttctgt tgagcagtga tttgcaactc ttgctgacgt tgctggggaa gctttaaaaa
     3061 aaaaaaagat gccccacaga gattctgatt ttaattgttc tgatttaatt ggcttggagt
     3121 agaattcagg cattgatatc tttaaaaact ccccagtgtt gagaaacaaa tttagagagt
     3181 tgagaagtag gtatattaaa ttacagaatc ttactgagtt ttggtagact gataatacaa
     3241 tttgctttgc ttttcttaaa tttgcattga gatgggattt gaagcatatt gtgctcttgt
     3301 gaatgttgaa gttgcattgt agaagtttag aagctctggc tatgggttgc ctaaattgat
     3361 gttttgagga agcatattaa tgttataaac ttcgctgact ttgaaggttg tgttgtagca
     3421 tgaggaacac aaataaaaca attctaaatc aaactaa
//
