LOCUS       NP_068746                669 aa            linear   PRI 20-SEP-2024
DEFINITION  translation factor GUF1, mitochondrial isoform 1 [Homo sapiens].
ACCESSION   NP_068746
VERSION     NP_068746.2
DBSOURCE    REFSEQ: accession 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  (residues 1 to 669)
  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  (residues 1 to 669)
  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  (residues 1 to 669)
  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  (residues 1 to 669)
  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  (residues 1 to 669)
  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 Sep 22, 2007 this sequence version replaced NP_068746.1.
            
            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##
FEATURES             Location/Qualifiers
     source          1..669
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p12"
     Protein         1..669
                     /product="translation factor GUF1, mitochondrial isoform
                     1"
                     /note="GTPase of unknown function 1; GTP-binding protein
                     GUF1 homolog; translation factor GUF1, mitochondrial;
                     ribosomal back-translocase; elongation factor 4 homolog;
                     GUF1 homolog, GTPase"
                     /calculated_mol_wt=74197
     Region          64..665
                     /region_name="LepA"
                     /note="Translation elongation factor EF-4, membrane-bound
                     GTPase [Translation, ribosomal structure and biogenesis];
                     COG0481"
                     /db_xref="CDD:440249"
     CDS             1..669
                     /gene="GUF1"
                     /gene_synonym="DEE40; EF-4; EF4; EIEE40"
                     /coded_by="NM_021927.3:204..2213"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS3468.1"
                     /db_xref="GeneID:60558"
                     /db_xref="HGNC:HGNC:25799"
                     /db_xref="MIM:617064"
ORIGIN      
        1 mwtlvgrgwg caralaprat gaallvapgp rsaptlgaap eswatdrlys saefkekldm
       61 srfpvenirn fsivahvdhg kstladrlle ltgtidktkn nkqvldklqv erergitvka
      121 qtaslfynce gkqyllnlid tpghvdfsye vsrslsacqg vllvvdaneg iqaqtvanff
      181 lafeaqlsvi pvinkidlkn adpervenqi ekvfdipsde cikisaklgt nvesvlqaii
      241 eripppkvhr knplralvfd stfdqyrgvi anvalfdgvv skgdkivsah tqktyevnev
      301 gvlnpneqpt hklyagqvgy liagmkdvte aqigdtlclh kqpveplpgf ksakpmvfag
      361 mypldqseyn nlksaieklt lndssvtvhr dsslalgagw rlgflgllhm evfnqrleqe
      421 ynasvilttp tvpykavlss sklikehrek eitiinpaqf pdkskvteyl epvvlgtiit
      481 pdeytgkimm lcearravqk nmifidqnrv mlkylfplne ivvdfydslk slssgyasfd
      541 yedagyqtae lvkmdillng ntveelvtvv hkdkahsigk aicerlkdsl prqlfeiaiq
      601 aaigskiiar etvkayrknv lakcyggdit rkmkllkrqa egkkklrkig nvevpkdafi
      661 kvlktqssk
//
