LOCUS       NM_011431               3397 bp    mRNA    linear   ROD 12-DEC-2024
DEFINITION  Mus musculus elongation factor Tu GTP binding domain containing 2
            (Eftud2), transcript variant 1, mRNA.
ACCESSION   NM_011431
VERSION     NM_011431.3
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 3397)
  AUTHORS   He,X.D., Taylor,L.F., Miao,X., Shi,Y., Lin,X., Yang,Z., Liu,X.,
            Miao,Y.L., Alfandari,D., Cui,W., Tremblay,K.D. and Mager,J.
  TITLE     Overlapping peri-implantation phenotypes of ZNHIT1 and ZNHIT2
            despite distinct functions during early mouse developmentdagger
  JOURNAL   Biol Reprod 111 (5), 1017-1029 (2024)
   PUBMED   39194072
REFERENCE   2  (bases 1 to 3397)
  AUTHORS   Yang,G., Yang,Y., Song,Z., Chen,L., Liu,F., Li,Y., Jiang,S.,
            Xue,S., Pei,J., Wu,Y., He,Y., Chu,B. and Wu,H.
  TITLE     Spliceosomal GTPase Eftud2 deficiency-triggered ferroptosis leads
            to Purkinje cell degeneration
  JOURNAL   Neuron 112 (20), 3452-3469 (2024)
   PUBMED   39153477
  REMARK    GeneRIF: Spliceosomal GTPase Eftud2 deficiency-triggered
            ferroptosis leads to Purkinje cell degeneration.
REFERENCE   3  (bases 1 to 3397)
  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 3397)
  AUTHORS   Beauchamp,M.C., Boucher,A., Dong,Y., Aber,R. and
            Jerome-Majewska,L.A.
  TITLE     Craniofacial Defects in Embryos with Homozygous Deletion of Eftud2
            in Their Neural Crest Cells Are Not Rescued by Trp53 Deletion
  JOURNAL   Int J Mol Sci 23 (16), 9033 (2022)
   PUBMED   36012294
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3397)
  AUTHORS   Beauchamp,M.C., Djedid,A., Bareke,E., Merkuri,F., Aber,R.,
            Tam,A.S., Lines,M.A., Boycott,K.M., Stirling,P.C., Fish,J.L.,
            Majewski,J. and Jerome-Majewska,L.A.
  TITLE     Mutation in Eftud2 causes craniofacial defects in mice via
            mis-splicing of Mdm2 and increased P53
  JOURNAL   Hum Mol Genet 30 (9), 739-757 (2021)
   PUBMED   33601405
  REMARK    GeneRIF: Mutation in Eftud2 causes craniofacial defects in mice via
            mis-splicing of Mdm2 and increased P53.
REFERENCE   6  (bases 1 to 3397)
  AUTHORS   Okazaki,N., F-Kikuno,R., Ohara,R., Inamoto,S., Koseki,H.,
            Hiraoka,S., Saga,Y., Seino,S., Nishimura,M., Kaisho,T., Hoshino,K.,
            Kitamura,H., Nagase,T., Ohara,O. and Koga,H.
  TITLE     Prediction of the coding sequences of mouse homologues of KIAA
            gene: IV. The complete nucleotide sequences of 500 mouse
            KIAA-homologous cDNAs identified by screening of terminal sequences
            of cDNA clones randomly sampled from size-fractionated libraries
  JOURNAL   DNA Res 11 (3), 205-218 (2004)
   PUBMED   15368895
REFERENCE   7  (bases 1 to 3397)
  AUTHORS   Sharov,A.A., Piao,Y., Matoba,R., Dudekula,D.B., Qian,Y.,
            VanBuren,V., Falco,G., Martin,P.R., Stagg,C.A., Bassey,U.C.,
            Wang,Y., Carter,M.G., Hamatani,T., Aiba,K., Akutsu,H., Sharova,L.,
            Tanaka,T.S., Kimber,W.L., Yoshikawa,T., Jaradat,S.A., Pantano,S.,
            Nagaraja,R., Boheler,K.R., Taub,D., Hodes,R.J., Longo,D.L.,
            Schlessinger,D., Keller,J., Klotz,E., Kelsoe,G., Umezawa,A.,
            Vescovi,A.L., Rossant,J., Kunath,T., Hogan,B.L., Curci,A.,
            D'Urso,M., Kelso,J., Hide,W. and Ko,M.S.
  TITLE     Transcriptome analysis of mouse stem cells and early embryos
  JOURNAL   PLoS Biol 1 (3), E74 (2003)
   PUBMED   14691545
REFERENCE   8  (bases 1 to 3397)
  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   9  (bases 1 to 3397)
  AUTHORS   Muralikrishna,B., Dhawan,J., Rangaraj,N. and Parnaik,V.K.
  TITLE     Distinct changes in intranuclear lamin A/C organization during
            myoblast differentiation
  JOURNAL   J Cell Sci 114 (Pt 22), 4001-4011 (2001)
   PUBMED   11739632
REFERENCE   10 (bases 1 to 3397)
  AUTHORS   Fabrizio,P., Laggerbauer,B., Lauber,J., Lane,W.S. and Luhrmann,R.
  TITLE     An evolutionarily conserved U5 snRNP-specific protein is a
            GTP-binding factor closely related to the ribosomal translocase
            EF-2
  JOURNAL   EMBO J 16 (13), 4092-4106 (1997)
   PUBMED   9233818
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BY074102.1 and BC054778.1.
            
            On Oct 19, 2007 this sequence version replaced NM_011431.2.
            
            Transcript Variant: This variant (1) uses an alternate splice site
            in the 5' coding region compared to variant 2. The resulting
            protein (isoform a) is shorter but has the same N- and C-termini
            compared to isoform b.
            
            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 :: BC054778.1, BC052674.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN01164138, SAMN01164139
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-34                BY074102.1         4-37
            35-3397             BC054778.1         1-3363
FEATURES             Location/Qualifiers
     source          1..3397
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="11"
                     /map="11 66.48 cM"
     gene            1..3397
                     /gene="Eftud2"
                     /gene_synonym="116kDa; Snrp116; U5-116kD"
                     /note="elongation factor Tu GTP binding domain containing
                     2"
                     /db_xref="GeneID:20624"
                     /db_xref="MGI:MGI:1336880"
     exon            1..81
                     /gene="Eftud2"
                     /gene_synonym="116kDa; Snrp116; U5-116kD"
                     /inference="alignment:Splign:2.1.0"
     exon            82..190
                     /gene="Eftud2"
                     /gene_synonym="116kDa; Snrp116; U5-116kD"
                     /inference="alignment:Splign:2.1.0"
     CDS             86..3001
                     /gene="Eftud2"
                     /gene_synonym="116kDa; Snrp116; U5-116kD"
                     /note="isoform a is encoded by transcript variant 1; 116
                     kDa U5 small nuclear ribonucleoprotein component; U5-116
                     kDa; U5 snRNP-specific protein, 116 kDa; elongation factor
                     Tu GTP-binding domain-containing protein 2; U5 small
                     nuclear ribonucleoprotein 116 kDa"
                     /codon_start=1
                     /product="116 kDa U5 small nuclear ribonucleoprotein
                     component isoform a"
                     /protein_id="NP_035561.1"
                     /db_xref="CCDS:CCDS48947.1"
                     /db_xref="GeneID:20624"
                     /db_xref="MGI:MGI:1336880"
                     /translation="MDTDLYDEFGNYIGPELDSDEDDDELGRETKDLDEDEDEDEDDV
                     GEHEDDHPGMEVVLHEDKKYYPTAEEVYGPEVETIVQEEDTQPLTEPIIKPVKTKKFT
                     LMEQTLPVTVYEMDFLADLMDNSELIRNVTLCGHLHHGKTCFVDCLIEQTHPEIRKRY
                     DQDLCYTDILFTEQERGVGIKSTPVTVVLPDTKGKSYLFNIMDTPGHVNFSDEVTAGL
                     RISDGVVLFIDAAEGVMLNTERLIKHAVQERLAVTVCINKIDRLILELKLPPTDAYYK
                     LRHIVDEVNGLISMYSTDENLILSPLLGNVCFSSSQYSICFTLGSFAKIYADTFGDIN
                     YQEFAKRLWGDIYFNPKTRKFTKKAPSSSSQRSFVEFILEPLYKILAQVVGDVDTSLP
                     RTLDELGIHLTKEELKLNIRPLLRLVCKKFFGEFTGFVDMCVQHIPSPKVGAKPKIEH
                     TYTGGVDSDLGEAMSDCDPDGPLMCHTTKMYSTDDGVQFHAFGRVLSGTIHAGQPVKV
                     LGENYTLEDEEDSQICTVGRLWISVARYHIEVNRVPAGNWVLIEGVDQPIVKTATITE
                     PRGNEEAQIFRPLKFNTTSVIKIAVEPVNPSELPKMLDGLRKVNKSYPSLTTKVEESG
                     EHVILGTGELYLDCVMHDLRKMYSEIDIKVADPVVTFCETVVETSSLKCFAETPNKKN
                     KITMIAEPLEKGLAEDIENEVVQITWNRKKLGEFFQTKYDWDLLAARSIWAFGPDATG
                     PNILVDDTLPSEVDKALLGSVKDSIVQGFQWGTREGPLCDELIRNVKFKILDAVVAQE
                     PLHRGGGQIIPTARRVVYSAFLMATPRLMEPYYFVEVQAPADCVSAVYTVLARRRGHV
                     TQDAPIPGSPLYTIKAFIPAIDSFGFETDLRTHTQGQAFSLSVFHHWQIVPGDPLDKS
                     IVIRPLEPQPAPHLAREFMIKTRRRKGLSEDVSISKFFDDPMLLELAKQDVVLNYPM"
     exon            191..353
                     /gene="Eftud2"
                     /gene_synonym="116kDa; Snrp116; U5-116kD"
                     /inference="alignment:Splign:2.1.0"
     exon            354..432
                     /gene="Eftud2"
                     /gene_synonym="116kDa; Snrp116; U5-116kD"
                     /inference="alignment:Splign:2.1.0"
     exon            433..508
                     /gene="Eftud2"
                     /gene_synonym="116kDa; Snrp116; U5-116kD"
                     /inference="alignment:Splign:2.1.0"
     exon            509..574
                     /gene="Eftud2"
                     /gene_synonym="116kDa; Snrp116; U5-116kD"
                     /inference="alignment:Splign:2.1.0"
     exon            575..610
                     /gene="Eftud2"
                     /gene_synonym="116kDa; Snrp116; U5-116kD"
                     /inference="alignment:Splign:2.1.0"
     exon            611..701
                     /gene="Eftud2"
                     /gene_synonym="116kDa; Snrp116; U5-116kD"
                     /inference="alignment:Splign:2.1.0"
     exon            702..784
                     /gene="Eftud2"
                     /gene_synonym="116kDa; Snrp116; U5-116kD"
                     /inference="alignment:Splign:2.1.0"
     exon            785..951
                     /gene="Eftud2"
                     /gene_synonym="116kDa; Snrp116; U5-116kD"
                     /inference="alignment:Splign:2.1.0"
     exon            952..1076
                     /gene="Eftud2"
                     /gene_synonym="116kDa; Snrp116; U5-116kD"
                     /inference="alignment:Splign:2.1.0"
     exon            1077..1140
                     /gene="Eftud2"
                     /gene_synonym="116kDa; Snrp116; U5-116kD"
                     /inference="alignment:Splign:2.1.0"
     exon            1141..1231
                     /gene="Eftud2"
                     /gene_synonym="116kDa; Snrp116; U5-116kD"
                     /inference="alignment:Splign:2.1.0"
     exon            1232..1367
                     /gene="Eftud2"
                     /gene_synonym="116kDa; Snrp116; U5-116kD"
                     /inference="alignment:Splign:2.1.0"
     exon            1368..1495
                     /gene="Eftud2"
                     /gene_synonym="116kDa; Snrp116; U5-116kD"
                     /inference="alignment:Splign:2.1.0"
     exon            1496..1689
                     /gene="Eftud2"
                     /gene_synonym="116kDa; Snrp116; U5-116kD"
                     /inference="alignment:Splign:2.1.0"
     exon            1690..1801
                     /gene="Eftud2"
                     /gene_synonym="116kDa; Snrp116; U5-116kD"
                     /inference="alignment:Splign:2.1.0"
     exon            1802..1942
                     /gene="Eftud2"
                     /gene_synonym="116kDa; Snrp116; U5-116kD"
                     /inference="alignment:Splign:2.1.0"
     exon            1943..2044
                     /gene="Eftud2"
                     /gene_synonym="116kDa; Snrp116; U5-116kD"
                     /inference="alignment:Splign:2.1.0"
     exon            2045..2127
                     /gene="Eftud2"
                     /gene_synonym="116kDa; Snrp116; U5-116kD"
                     /inference="alignment:Splign:2.1.0"
     exon            2128..2214
                     /gene="Eftud2"
                     /gene_synonym="116kDa; Snrp116; U5-116kD"
                     /inference="alignment:Splign:2.1.0"
     exon            2215..2341
                     /gene="Eftud2"
                     /gene_synonym="116kDa; Snrp116; U5-116kD"
                     /inference="alignment:Splign:2.1.0"
     exon            2342..2429
                     /gene="Eftud2"
                     /gene_synonym="116kDa; Snrp116; U5-116kD"
                     /inference="alignment:Splign:2.1.0"
     exon            2430..2548
                     /gene="Eftud2"
                     /gene_synonym="116kDa; Snrp116; U5-116kD"
                     /inference="alignment:Splign:2.1.0"
     exon            2549..2643
                     /gene="Eftud2"
                     /gene_synonym="116kDa; Snrp116; U5-116kD"
                     /inference="alignment:Splign:2.1.0"
     exon            2644..2797
                     /gene="Eftud2"
                     /gene_synonym="116kDa; Snrp116; U5-116kD"
                     /inference="alignment:Splign:2.1.0"
     exon            2798..2905
                     /gene="Eftud2"
                     /gene_synonym="116kDa; Snrp116; U5-116kD"
                     /inference="alignment:Splign:2.1.0"
     exon            2906..3330
                     /gene="Eftud2"
                     /gene_synonym="116kDa; Snrp116; U5-116kD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3307..3312
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Eftud2"
                     /gene_synonym="116kDa; Snrp116; U5-116kD"
                     /note="hexamer: AATGAA"
     polyA_site      3325
                     /gene="Eftud2"
                     /gene_synonym="116kDa; Snrp116; U5-116kD"
                     /note="major polyA site"
ORIGIN      
        1 cgggcgccgg cgttgtcgcg gcgtgcggcg gaagcgcggg ctcaggcggc ggaccggggc
       61 actcggctga gcattcggcg gcatcatgga tactgacttg tatgatgagt ttgggaatta
      121 tattggacca gagcttgatt ctgatgaaga tgatgatgaa ctgggaagag agacaaaaga
      181 tcttgatgag gatgaggacg aggacgagga tgacgtggga gagcacgagg atgaccaccc
      241 cggcatggag gtggtgctgc atgaggacaa gaagtactac cccacggccg aggaggtgta
      301 cggtcccgag gtggagacca tagtccagga ggaagacacc cagcccctca cagaacccat
      361 tataaagcca gtgaaaacca agaaattcac tctgatggag cagacattac ccgtcacggt
      421 gtatgagatg gatttcttag cagatctgat ggacaactct gagctcatca gaaacgtaac
      481 cttgtgtggc catctccacc acggcaagac ctgtttcgta gattgtttaa tagaacagac
      541 gcatccggaa atcagaaagc gctatgacca agacctatgc tatactgaca tcctcttcac
      601 agaacaagag agaggcgtcg gcatcaagag cactccggtg acggtggtgc tgccggacac
      661 caaagggaag tcttacctct tcaacatcat ggacacgcca ggtcatgtga atttttctga
      721 tgaggtcaca gctggcttgc gcatctcaga tggagtggtc cttttcattg atgctgctga
      781 gggggtgatg ctgaacacag agcggctgat caagcacgca gtgcaggaaa ggttagcagt
      841 caccgtgtgt atcaacaaaa tcgaccggct gatcttggag ctgaagctgc ctccaacaga
      901 tgcttattac aagctgcgac acattgtgga tgaggtcaat ggattaataa gcatgtattc
      961 caccgacgag aacctgatcc tttctccact cctgggcaac gtctgcttct ccagttccca
     1021 gtacagcatc tgcttcacac tgggttcctt tgccaagatc tacgctgaca cctttggtga
     1081 cattaattac caggaatttg ctaaaagact ctggggtgac atctacttca atcctaagac
     1141 gagaaagttc accaaaaagg ctcccagcag cagctcccag aggagcttcg tggagttcat
     1201 cttggagcca ctctataaga tcctggccca ggtggtgggt gatgtggaca ccagcctgcc
     1261 aaggaccctg gacgaacttg gcatccacct caccaaggaa gagctaaagc tgaacatccg
     1321 ccccctgctc aggctggtct gcaaaaagtt ctttggcgag ttcacaggct ttgtggacat
     1381 gtgtgtgcag cacattccat ctccaaaggt gggcgccaaa cccaagatcg agcataccta
     1441 cactggcggc gtggactctg accttggcga ggccatgagc gactgtgacc cagatggtcc
     1501 cctgatgtgc cacacgacga agatgtacag cacagatgat ggagtccagt ttcatgcctt
     1561 cggccgggtg ctgagcggca ccatccacgc tgggcagcct gtgaaggtgc tgggggagaa
     1621 ctacaccttg gaagacgagg aagattccca gatctgcacc gtgggccgcc tctggatctc
     1681 cgtcgccagg taccacattg aggtgaatcg tgttcctgct ggcaactggg tcctgattga
     1741 aggtgttgac cagccgatcg tgaagacagc aaccataact gaaccccgag gcaatgagga
     1801 ggctcagatt ttccggccct tgaaattcaa taccacatct gttatcaaga ttgccgtgga
     1861 gccggttaac ccctcagagc tgcccaaaat gcttgatggc ctgcgcaagg tcaacaagag
     1921 ctatccatct ctcaccacca aggtggaaga gtctggcgag catgtgatcc tgggcactgg
     1981 ggagctctac ctggactgtg tgatgcacga cctgcggaag atgtactcag agatcgacat
     2041 caaggtggct gacccagttg tgacattctg tgagacagtg gtagaaacgt cctccctcaa
     2101 atgctttgct gagacaccca ataagaagaa caagatcacc atgattgccg agccccttga
     2161 gaagggcctt gctgaggaca tagagaatga agtggtccag atcacctgga acagaaagaa
     2221 gctgggagag tttttccaaa caaagtacga ctgggatctg ctggctgccc gttccatctg
     2281 ggccttcgga cctgatgcta caggccccaa catcctagta gatgatacac tgccctcaga
     2341 ggtagacaag gcccttctcg gctcagtgaa ggacagcatt gttcaaggtt tccagtgggg
     2401 gaccagggaa ggacccctct gcgatgaatt gattcggaat gtcaagttta agatactgga
     2461 tgctgtggtt gcccaggaac ccctccaccg gggtggaggt cagatcattc ccacagccag
     2521 gagggtagtg tactctgcct tcctcatggc cactccccgt ctgatggagc cttactactt
     2581 tgtagaggtc caggctcctg cagattgtgt gtctgctgtt tacacagtcc tggccagacg
     2641 caggggtcat gtgactcagg atgcacccat accaggctcc cctctctata ccatcaaagc
     2701 gttcatcccg gccatcgact cattcggctt tgagactgat ctccgcactc acacccaggg
     2761 acaggccttt tccctgtctg tcttccacca ttggcagatt gtcccaggcg atcctctgga
     2821 caagagcatt gtcattcgcc cgctggagcc acagccagct cctcacctgg ctcgggagtt
     2881 catgatcaaa acccgtcgta ggaagggcct gagtgaagat gtgagcatca gcaagttctt
     2941 cgacgatcct atgttgctgg agctcgccaa acaggatgtt gtgctcaatt atcccatgtg
     3001 agtgaagggg ctggcagctc tagactcaag ccgagacctg gtgactgggc cctcgagctc
     3061 tgagcatcgg gaactgctat ggggccgtct gaacgcccca gaaacctcca tcccagtgag
     3121 gaaggggcat ctggcctggt ttcttctgtg gcctttgcct ggccccattc ccaaggaaca
     3181 gaggagagct tgggcccaga gaagaagaat gagaacaaga tgaaaatgtt taaccctaag
     3241 gggcctgtct tcaggactta catggaattt tattttttac aagttccact ttagccacag
     3301 tttataaatg aacaggacat tctgacctct aaaaaaaaaa aaaaaaaaaa aaaaaaaaaa
     3361 aaaaaaaaaa aaaaaaaaaa aaaaaaaaaa aaaaaaa
//
