LOCUS       NM_021927               4460 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens GTP binding elongation factor GUF1 (GUF1), transcript
            variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_021927
VERSION     NM_021927.3
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 4460)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   2  (bases 1 to 4460)
  AUTHORS   Alfaiz,A.A., Muller,V., Boutry-Kryza,N., Ville,D., Guex,N., de
            Bellescize,J., Rivier,C., Labalme,A., des Portes,V., Edery,P.,
            Till,M., Xenarios,I., Sanlaville,D., Herrmann,J.M., Lesca,G. and
            Reymond,A.
  TITLE     West syndrome caused by homozygous variant in the evolutionary
            conserved gene encoding the mitochondrial elongation factor GUF1
  JOURNAL   Eur J Hum Genet 24 (7), 1001-1008 (2016)
   PUBMED   26486472
  REMARK    GeneRIF: Homozygous variant in the GUF1 gene identified in the
            three siblings with West syndrome.
REFERENCE   3  (bases 1 to 4460)
  AUTHORS   Gagnon,M.G., Lin,J. and Steitz,T.A.
  TITLE     Elongation factor 4 remodels the A-site tRNA on the ribosome
  JOURNAL   Proc Natl Acad Sci U S A 113 (18), 4994-4999 (2016)
   PUBMED   27092003
  REMARK    GeneRIF: The structure provides insights into the tRNA-remodeling
            function of EF-4 on the ribosome and suggests that the displacement
            of the CCA-end of the A-site tRNA away from the peptidyl
            transferase center (PTC) is functionally significant.
REFERENCE   4  (bases 1 to 4460)
  AUTHORS   Zhang,D. and Qin,Y.
  TITLE     The paradox of elongation factor 4: highly conserved, yet of no
            physiological significance?
  JOURNAL   Biochem J 452 (2), 173-181 (2013)
   PUBMED   23662805
  REMARK    Review article
REFERENCE   5  (bases 1 to 4460)
  AUTHORS   Kiser,G.L. and Weinert,T.A.
  TITLE     GUF1, a gene encoding a novel evolutionarily conserved GTPase in
            budding yeast
  JOURNAL   Yeast 11 (13), 1311-1316 (1995)
   PUBMED   8553703
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA997676.1, BC036768.1,
            AK025248.1 and AC096586.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_021927.2.
            
            Summary: This gene encodes a GTPase that triggers
            back-translocation of the elongating ribosome during mitochondrial
            protein synthesis. The protein contains a highly conserved
            C-terminal domain not found in other GTPases that facilitates tRNA
            binding. The encoded protein is thought to prevent misincorporation
            of amino acids in stressful, suboptimal conditions. An allelic
            variant in this gene has been associated with early infantile
            epileptic encephalopathy-40. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Sep 2016].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.111669.1,
                                           SRR1660809.124564.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000281543.6/ ENSP00000281543.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-35                DA997676.1         5-39
            36-2296             BC036768.1         1-2261
            2297-4212           AK025248.1         1082-2997
            4213-4460           AC096586.3         114205-114452       c
FEATURES             Location/Qualifiers
     source          1..4460
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p12"
     gene            1..4460
                     /gene="GUF1"
                     /gene_synonym="DEE40; EF-4; EF4; EIEE40"
                     /note="GTP binding elongation factor GUF1"
                     /db_xref="GeneID:60558"
                     /db_xref="HGNC:HGNC:25799"
                     /db_xref="MIM:617064"
     exon            1..368
                     /gene="GUF1"
                     /gene_synonym="DEE40; EF-4; EF4; EIEE40"
                     /inference="alignment:Splign:2.1.0"
     CDS             204..2213
                     /gene="GUF1"
                     /gene_synonym="DEE40; EF-4; EF4; EIEE40"
                     /note="isoform 1 is encoded by transcript variant 1;
                     GTPase of unknown function 1; GTP-binding protein GUF1
                     homolog; translation factor GUF1, mitochondrial; ribosomal
                     back-translocase; elongation factor 4 homolog; GUF1
                     homolog, GTPase"
                     /codon_start=1
                     /product="translation factor GUF1, mitochondrial isoform
                     1"
                     /protein_id="NP_068746.2"
                     /db_xref="CCDS:CCDS3468.1"
                     /db_xref="GeneID:60558"
                     /db_xref="HGNC:HGNC:25799"
                     /db_xref="MIM:617064"
                     /translation="MWTLVGRGWGCARALAPRATGAALLVAPGPRSAPTLGAAPESWA
                     TDRLYSSAEFKEKLDMSRFPVENIRNFSIVAHVDHGKSTLADRLLELTGTIDKTKNNK
                     QVLDKLQVERERGITVKAQTASLFYNCEGKQYLLNLIDTPGHVDFSYEVSRSLSACQG
                     VLLVVDANEGIQAQTVANFFLAFEAQLSVIPVINKIDLKNADPERVENQIEKVFDIPS
                     DECIKISAKLGTNVESVLQAIIERIPPPKVHRKNPLRALVFDSTFDQYRGVIANVALF
                     DGVVSKGDKIVSAHTQKTYEVNEVGVLNPNEQPTHKLYAGQVGYLIAGMKDVTEAQIG
                     DTLCLHKQPVEPLPGFKSAKPMVFAGMYPLDQSEYNNLKSAIEKLTLNDSSVTVHRDS
                     SLALGAGWRLGFLGLLHMEVFNQRLEQEYNASVILTTPTVPYKAVLSSSKLIKEHREK
                     EITIINPAQFPDKSKVTEYLEPVVLGTIITPDEYTGKIMMLCEARRAVQKNMIFIDQN
                     RVMLKYLFPLNEIVVDFYDSLKSLSSGYASFDYEDAGYQTAELVKMDILLNGNTVEEL
                     VTVVHKDKAHSIGKAICERLKDSLPRQLFEIAIQAAIGSKIIARETVKAYRKNVLAKC
                     YGGDITRKMKLLKRQAEGKKKLRKIGNVEVPKDAFIKVLKTQSSK"
     exon            369..480
                     /gene="GUF1"
                     /gene_synonym="DEE40; EF-4; EF4; EIEE40"
                     /inference="alignment:Splign:2.1.0"
     exon            481..629
                     /gene="GUF1"
                     /gene_synonym="DEE40; EF-4; EF4; EIEE40"
                     /inference="alignment:Splign:2.1.0"
     exon            630..710
                     /gene="GUF1"
                     /gene_synonym="DEE40; EF-4; EF4; EIEE40"
                     /inference="alignment:Splign:2.1.0"
     exon            711..788
                     /gene="GUF1"
                     /gene_synonym="DEE40; EF-4; EF4; EIEE40"
                     /inference="alignment:Splign:2.1.0"
     exon            789..872
                     /gene="GUF1"
                     /gene_synonym="DEE40; EF-4; EF4; EIEE40"
                     /inference="alignment:Splign:2.1.0"
     exon            873..937
                     /gene="GUF1"
                     /gene_synonym="DEE40; EF-4; EF4; EIEE40"
                     /inference="alignment:Splign:2.1.0"
     exon            938..1141
                     /gene="GUF1"
                     /gene_synonym="DEE40; EF-4; EF4; EIEE40"
                     /inference="alignment:Splign:2.1.0"
     exon            1142..1281
                     /gene="GUF1"
                     /gene_synonym="DEE40; EF-4; EF4; EIEE40"
                     /inference="alignment:Splign:2.1.0"
     exon            1282..1405
                     /gene="GUF1"
                     /gene_synonym="DEE40; EF-4; EF4; EIEE40"
                     /inference="alignment:Splign:2.1.0"
     exon            1406..1538
                     /gene="GUF1"
                     /gene_synonym="DEE40; EF-4; EF4; EIEE40"
                     /inference="alignment:Splign:2.1.0"
     exon            1539..1682
                     /gene="GUF1"
                     /gene_synonym="DEE40; EF-4; EF4; EIEE40"
                     /inference="alignment:Splign:2.1.0"
     exon            1683..1816
                     /gene="GUF1"
                     /gene_synonym="DEE40; EF-4; EF4; EIEE40"
                     /inference="alignment:Splign:2.1.0"
     exon            1817..1918
                     /gene="GUF1"
                     /gene_synonym="DEE40; EF-4; EF4; EIEE40"
                     /inference="alignment:Splign:2.1.0"
     exon            1919..2038
                     /gene="GUF1"
                     /gene_synonym="DEE40; EF-4; EF4; EIEE40"
                     /inference="alignment:Splign:2.1.0"
     exon            2039..2075
                     /gene="GUF1"
                     /gene_synonym="DEE40; EF-4; EF4; EIEE40"
                     /inference="alignment:Splign:2.1.0"
     exon            2076..4460
                     /gene="GUF1"
                     /gene_synonym="DEE40; EF-4; EF4; EIEE40"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4194..4199
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GUF1"
                     /gene_synonym="DEE40; EF-4; EF4; EIEE40"
                     /note="hexamer: AATAAA"
     polyA_site      4212
                     /gene="GUF1"
                     /gene_synonym="DEE40; EF-4; EF4; EIEE40"
                     /note="major polyA site"
     regulatory      4441..4446
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GUF1"
                     /gene_synonym="DEE40; EF-4; EF4; EIEE40"
                     /note="hexamer: ATTAAA"
     polyA_site      4460
                     /gene="GUF1"
                     /gene_synonym="DEE40; EF-4; EF4; EIEE40"
ORIGIN      
        1 agacgtcggc aagctgcgcc gccgcttcgg gttgcttccg gatctggtac ttgggcagag
       61 ctccccgggg ttcattgtct tcgcttcaca ggatctgttt gagtcctgtc caccggatcc
      121 tacggggggt accttcgaaa aaaaacgggc tatgctgctg ttgcgtgtgg gtaccctctc
      181 ctgacgcctc cgccgcccgg gtcatgtgga ccctcgtggg tcggggctgg gggtgcgcac
      241 gcgctctcgc gccacgagcc actggggccg cgcttctggt ggccccgggg ccccggtccg
      301 cgccgaccct tggggctgct ccagagtcct gggctaccga caggctctac agctccgcag
      361 aattcaagga aaaacttgac atgtctaggt ttcctgttga aaatattaga aatttcagta
      421 ttgttgcaca cgtggatcat ggcaaaagta ctttagctga caggctccta gaacttacag
      481 ggacaattga taaaacaaag aataataagc aggttcttga taaattgcaa gtggaacgag
      541 aaagaggaat cactgttaaa gcacagacag catctctctt ttacaattgt gaaggaaagc
      601 agtacctttt aaatctcatt gatacaccgg gccatgttga ttttagttat gaagtatcca
      661 ggtcactttc tgcttgccag ggtgttttac ttgtggttga tgcaaatgag ggaattcaag
      721 cccaaactgt agcaaacttc tttcttgcct tcgaagcaca gctatcggta attccagtta
      781 taaataagat agatctgaag aatgctgatc ctgaaagggt tgaaaaccaa attgagaaag
      841 tgtttgatat tccaagtgat gaatgtatta agatttctgc taaacttgga acaaatgttg
      901 agagtgttct tcaggcaatt attgaaagaa tcccccctcc taaagtgcat cgcaaaaatc
      961 ctctgagagc tttggtattt gactccacct ttgaccagta tagaggtgtg atagccaatg
     1021 tagcattatt tgacggagtg gtttccaaag gagataaaat tgtatctgca catactcaaa
     1081 agacatacga agttaatgaa gtaggagtct tgaatcctaa tgagcagcca actcataaat
     1141 tatatgcagg acaggtgggc tatctgattg ctgggatgaa agatgtcact gaagcgcaaa
     1201 taggagatac attatgttta cataagcaac cagtggagcc cttgcctggg tttaaatcag
     1261 cgaaaccaat ggtatttgca ggaatgtatc ctctagacca atctgaatat aacaatctga
     1321 agagtgctat agaaaaactg actttaaatg attccagtgt gaccgttcat cgggatagta
     1381 gccttgctct gggtgctggc tggaggctag gatttcttgg acttttgcac atggaagttt
     1441 tcaaccagcg actggagcaa gaatataatg cttctgttat tttaacaacc cctactgttc
     1501 catataaagc tgtactgtca tcatcaaaat tgataaagga acatagagaa aaagaaatta
     1561 caattatcaa tcctgcacaa ttccccgata aatcaaaagt aacagaatat ttggagccag
     1621 ttgttttggg cactattatc acaccagatg aatacactgg aaaaataatg atgctttgcg
     1681 aggctcgaag agcagttcag aagaatatga tatttattga tcaaaataga gttatgctta
     1741 aatatctctt tcctttgaat gaaattgtgg tagattttta tgactctttg aaatccctat
     1801 cttctggata tgctagtttt gattacgaag atgcaggcta ccagactgca gaacttgtaa
     1861 aaatggatat tctactgaat ggaaatactg tagaggagct agtaactgtt gtacacaaag
     1921 acaaagctca ttcaattggc aaagccatat gtgaacggct gaaggattct cttcctaggc
     1981 aactgtttga gatagcaatt caagctgcta ttggaagtaa aatcattgca agagaaactg
     2041 tgaaagccta taggaaaaac gttttggcaa aatgttatgg tggtgatatt acccgaaaaa
     2101 tgaagctttt gaagagacaa gcagaaggga aaaaaaagct gaggaaaatt ggcaacgttg
     2161 aagttccaaa agatgctttt ataaaagttc tgaaaacaca atcttctaaa taattggtgg
     2221 gaaaacaaag aattttcatt gcaatttgta atatgctgac aacagaaaga aaattataaa
     2281 atttgcttgt tactttcagg gtattcaggt tcaaataacc tactagtctt tcgttgaaag
     2341 ggagtagtta gtgggtaggc aagagcttag attttgaagc catgttgcct gttctcaaat
     2401 atctgttcca accactcact agtaaggtga ccgtggccag attaaccttt gtttcctctt
     2461 cagtaaaatc gagattatac tactacctac ataagttgtt gttgtgaaga ttaaatgagg
     2521 taatacgtta aatattcaga ggtgcaagac acatagtaag cactcaattg taactacagt
     2581 taagtcctta aatgccatcg aaaggttctt agaaactgac tttaagcaaa atgacacgta
     2641 gcacaatgtt cttgaatgat gtcatttcct taagtggttt gtaacatcga tgaggaaaaa
     2701 aaattggttt atgcgtcatt tcattttatt tttatttatt ttttgagaca gagtcttgcc
     2761 ctgtcgccca ggctggagtg caatggcaca atctcgactc actgcaacct ctgcctcctg
     2821 ggttcaagag attctcctgc ctcagcctcc attacaggcg tgcaccacca tgctcggcta
     2881 attttttgta tctttagtag agtcggggtt tcaccatgtt ggccaggctg gtcttgaact
     2941 cctgacctcg tgatccaccc accgtggcct cccaaagtgc tgattacagg tgtgagccac
     3001 catgcccagc catgtcattt catttaaagt cacaatttcc atgaatctca acaagtgagg
     3061 acctgctata ttttgttgca tgcagttttt ctttacggac actaaaaggc cccatactta
     3121 agattccatc tactttaagt ttaaaggatt ttcagaatca ccttaagtgt caaatttgtt
     3181 agcaggatta attgatatga attcacttat taaacagtaa actcaaataa catagacatc
     3241 aaataacaga catctgctct agttaatgat aaaatgttta tagattttat caggtggtta
     3301 gtttgaaact aaatggttta catctaaatt aagggcagga gctgtctttc agacattcaa
     3361 aacgcatttg tgtaaaatga caggtgtttg gtattaccag gaactcataa tgacatttta
     3421 ataattattg tctaaatttc ataatcgaag cgattttaga gtagttaact tgagatttca
     3481 cagccagtaa atggctgtat ttctccagag ctctcagctc ccatgtttat tcagccaacg
     3541 aacaaaccag actgcagact gtattagagc aagacaacat catttagcca ttgattttta
     3601 tcttctacct tgaatgaatt gaatgaagaa aatgtctttt agggataaac actatcaagg
     3661 atgaatttta tactaaggtt atatgaaaga aaaatctcaa aaccactaag ccaaagggaa
     3721 gtcaagctgg gaactgattg aggcaaacct gcctcccatt ttattcctaa ataagacagc
     3781 cacaaagata aaatttgctc acaagggaat tccttatgga caaagaactc aaagtcttca
     3841 catgaaacaa atgcataaat gattgctttc tctgtttcat gtttcactaa gccagattaa
     3901 ggtataactg actattcctc tactctcctc tcacatgtaa attgtatatt cagtgaaagg
     3961 ctaatcagaa actcaaaaaa atgcaaccct ttctctctta cctgcctatg cttgaagccc
     4021 ccgcccctct tcaagttgtc ctgcctttca agaccaatgt acaccttaca catactgatt
     4081 gatgtctcat gtctctctaa aatgtgtaaa accaagctgt gccccaacca ccttgggcac
     4141 atgtggtgag gacctcctga ggctgtgtca tgggcacacc ttaaccctgg gaaaataaac
     4201 tttctaaact gacttgagag ctgtctcaga tattttgagc ttacagttat tgtgaaatca
     4261 ttttaattat aaattaagtg gagatttact taaaatcatg tgtagaagta gcctgtgata
     4321 tagtcctaga tacatacatt atcatcttat gtatcttccc tccctcttcc aggttctgat
     4381 aaaaacagat gaaatctgaa agaccatgac agtagtattt tgaaaatgac agtatttgaa
     4441 attaaaaaat tgtaaaagtg
//
