LOCUS       NM_004730               3682 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens eukaryotic translation termination factor 1 (ETF1),
            transcript variant 1, mRNA.
ACCESSION   NM_004730
VERSION     NM_004730.4
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 3682)
  AUTHORS   Shuvalov,A., Klishin,A., Biziaev,N., Shuvalova,E. and Alkalaeva,E.
  TITLE     Functional Activity of Isoform 2 of Human eRF1
  JOURNAL   Int J Mol Sci 25 (14), 7997 (2024)
   PUBMED   39063238
  REMARK    GeneRIF: Functional Activity of Isoform 2 of Human eRF1.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3682)
  AUTHORS   Oltion,K., Carelli,J.D., Yang,T., See,S.K., Wang,H.Y., Kampmann,M.
            and Taunton,J.
  TITLE     An E3 ligase network engages GCN1 to promote the degradation of
            translation factors on stalled ribosomes
  JOURNAL   Cell 186 (2), 346-362 (2023)
   PUBMED   36638793
REFERENCE   3  (bases 1 to 3682)
  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   4  (bases 1 to 3682)
  AUTHORS   Song,H., Mugnier,P., Das,A.K., Webb,H.M., Evans,D.R., Tuite,M.F.,
            Hemmings,B.A. and Barford,D.
  TITLE     The crystal structure of human eukaryotic release factor
            eRF1--mechanism of stop codon recognition and peptidyl-tRNA
            hydrolysis
  JOURNAL   Cell 100 (3), 311-321 (2000)
   PUBMED   10676813
REFERENCE   5  (bases 1 to 3682)
  AUTHORS   Guenet,L., Henry,C., Toutain,B., Dubourg,C., Le Gall,J.Y., David,V.
            and Le Treut,A.
  TITLE     Eukaryotic translation termination factor gene (ETF1/eRF1) maps at
            D5S500 in a commonly deleted region of chromosome 5q31 in malignant
            myeloid diseases
  JOURNAL   Cytogenet Cell Genet 88 (1-2), 82-86 (2000)
   PUBMED   10773672
REFERENCE   6  (bases 1 to 3682)
  AUTHORS   Hansen,L.L., Jakobsen,C.G. and Justesen,J.
  TITLE     Assignment of the human translation termination factor 1 (ETF1) to
            5q31.1 and of the proximal marker D5S1995 by radiation hybrid
            mapping
  JOURNAL   Cytogenet Cell Genet 87 (3-4), 256-257 (1999)
   PUBMED   10702684
REFERENCE   7  (bases 1 to 3682)
  AUTHORS   Chauvel,B., Dorval,I., Fergelot,P., Pichon,L., Giffon,T.,
            Gicquel,I., Le Gall,J.Y. and David,V.
  TITLE     A human homologue to the yeast omnipotent suppressor 45 maps 100 kb
            centromeric to HLA-A
  JOURNAL   Immunogenetics 41 (6), 380-382 (1995)
   PUBMED   7759135
REFERENCE   8  (bases 1 to 3682)
  AUTHORS   Frolova,L., Le Goff,X., Rasmussen,H.H., Cheperegin,S., Drugeon,G.,
            Kress,M., Arman,I., Haenni,A.L., Celis,J.E., Philippe,M. et al.
  TITLE     A highly conserved eukaryotic protein family possessing properties
            of polypeptide chain release factor
  JOURNAL   Nature 372 (6507), 701-703 (1994)
   PUBMED   7990965
REFERENCE   9  (bases 1 to 3682)
  AUTHORS   Grenett,H.E., Bounelis,P. and Fuller,G.M.
  TITLE     Identification of a human cDNA with high homology to yeast
            omnipotent suppressor 45
  JOURNAL   Gene 110 (2), 239-243 (1992)
   PUBMED   1537561
REFERENCE   10 (bases 1 to 3682)
  AUTHORS   Grenett,H.E., Eipers,P.G., Kidd,V.J., Bounelis,P. and Fuller,G.M.
  TITLE     Chromosomal localization of a human cDNA containing a DIDS binding
            domain and demonstrating high homology to yeast omnipotent
            suppressor 45
  JOURNAL   Somat Cell Mol Genet 18 (1), 97-102 (1992)
   PUBMED   1546371
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB060174.1, AK312510.1,
            U90176.1, AC113403.4 and AW131045.1.
            
            On Nov 23, 2018 this sequence version replaced NM_004730.3.
            
            Summary: This gene encodes a class-1 polypeptide chain release
            factor. The encoded protein plays an essential role in directing
            termination of mRNA translation from the termination codons UAA,
            UAG and UGA. This protein is a component of the SURF complex which
            promotes degradation of prematurely terminated mRNAs via the
            mechanism of nonsense-mediated mRNA decay (NMD). Alternate splicing
            results in multiple transcript variants. Pseudogenes of this gene
            are found on chromosomes 6, 7, and X. [provided by RefSeq, Aug
            2013].
            
            Transcript Variant: This variant (1) encodes the longest 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 :: SRR1660803.171475.1,
                                           SRR1660807.125552.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000360541.10/ ENSP00000353741.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-27                DB060174.1         65-91
            28-1387             AK312510.1         1-1360
            1388-1472           U90176.1           1461-1545
            1473-3296           AC113403.4         135967-137790       c
            3297-3682           AW131045.1         6-391               c
FEATURES             Location/Qualifiers
     source          1..3682
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.2"
     gene            1..3682
                     /gene="ETF1"
                     /gene_synonym="D5S1995; ERF; ERF1; RF1; SUP45L1; TB3-1"
                     /note="eukaryotic translation termination factor 1"
                     /db_xref="GeneID:2107"
                     /db_xref="HGNC:HGNC:3477"
                     /db_xref="MIM:600285"
     exon            1..140
                     /gene="ETF1"
                     /gene_synonym="D5S1995; ERF; ERF1; RF1; SUP45L1; TB3-1"
                     /inference="alignment:Splign:2.1.0"
     exon            141..244
                     /gene="ETF1"
                     /gene_synonym="D5S1995; ERF; ERF1; RF1; SUP45L1; TB3-1"
                     /inference="alignment:Splign:2.1.0"
     CDS             159..1472
                     /gene="ETF1"
                     /gene_synonym="D5S1995; ERF; ERF1; RF1; SUP45L1; TB3-1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     polypeptide chain release factor 1; sup45 (yeast
                     omnipotent suppressor 45) homolog-like 1; eukaryotic
                     peptide chain release factor subunit 1; protein Cl1"
                     /codon_start=1
                     /product="eukaryotic peptide chain release factor subunit
                     1 isoform 1"
                     /protein_id="NP_004721.1"
                     /db_xref="CCDS:CCDS4207.1"
                     /db_xref="GeneID:2107"
                     /db_xref="HGNC:HGNC:3477"
                     /db_xref="MIM:600285"
                     /translation="MADDPSAADRNVEIWKIKKLIKSLEAARGNGTSMISLIIPPKDQ
                     ISRVAKMLADEFGTASNIKSRVNRLSVLGAITSVQQRLKLYNKVPPNGLVVYCGTIVT
                     EEGKEKKVNIDFEPFKPINTSLYLCDNKFHTEALTALLSDDSKFGFIVIDGSGALFGT
                     LQGNTREVLHKFTVDLPKKHGRGGQSALRFARLRMEKRHNYVRKVAETAVQLFISGDK
                     VNVAGLVLAGSADFKTELSQSDMFDQRLQSKVLKLVDISYGGENGFNQAIELSTEVLS
                     NVKFIQEKKLIGRYFDEISQDTGKYCFGVEDTLKALEMGAVEILIVYENLDIMRYVLH
                     CQGTEEEKILYLTPEQEKDKSHFTDKETGQEHELIESMPLLEWFANNYKKFGATLEIV
                     TDKSQEGSQFVKGFGGIGGILRYRVDFQGMEYQGGDDEFFDLDDY"
     exon            245..420
                     /gene="ETF1"
                     /gene_synonym="D5S1995; ERF; ERF1; RF1; SUP45L1; TB3-1"
                     /inference="alignment:Splign:2.1.0"
     exon            421..560
                     /gene="ETF1"
                     /gene_synonym="D5S1995; ERF; ERF1; RF1; SUP45L1; TB3-1"
                     /inference="alignment:Splign:2.1.0"
     exon            561..699
                     /gene="ETF1"
                     /gene_synonym="D5S1995; ERF; ERF1; RF1; SUP45L1; TB3-1"
                     /inference="alignment:Splign:2.1.0"
     exon            700..890
                     /gene="ETF1"
                     /gene_synonym="D5S1995; ERF; ERF1; RF1; SUP45L1; TB3-1"
                     /inference="alignment:Splign:2.1.0"
     exon            891..1020
                     /gene="ETF1"
                     /gene_synonym="D5S1995; ERF; ERF1; RF1; SUP45L1; TB3-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1021..1176
                     /gene="ETF1"
                     /gene_synonym="D5S1995; ERF; ERF1; RF1; SUP45L1; TB3-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1177..1241
                     /gene="ETF1"
                     /gene_synonym="D5S1995; ERF; ERF1; RF1; SUP45L1; TB3-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1242..1389
                     /gene="ETF1"
                     /gene_synonym="D5S1995; ERF; ERF1; RF1; SUP45L1; TB3-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1390..3682
                     /gene="ETF1"
                     /gene_synonym="D5S1995; ERF; ERF1; RF1; SUP45L1; TB3-1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1967..1972
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ETF1"
                     /gene_synonym="D5S1995; ERF; ERF1; RF1; SUP45L1; TB3-1"
                     /note="hexamer: AATATA"
     polyA_site      1990
                     /gene="ETF1"
                     /gene_synonym="D5S1995; ERF; ERF1; RF1; SUP45L1; TB3-1"
     regulatory      3662..3667
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ETF1"
                     /gene_synonym="D5S1995; ERF; ERF1; RF1; SUP45L1; TB3-1"
                     /note="hexamer: ATTAAA"
     polyA_site      3682
                     /gene="ETF1"
                     /gene_synonym="D5S1995; ERF; ERF1; RF1; SUP45L1; TB3-1"
                     /note="major polyA site"
ORIGIN      
        1 gtcacaggcc ccatgtgagc ggattgcaac acatgcagct gcctggagag agggagccgg
       61 tgtcctacgt cagagccgcc gccgccgcgg agccgccgcc ggggaggagc agccgctgcc
      121 gcccaggact gggcccttag ggaggaggag gcgagaagat ggcggacgac cccagtgctg
      181 ccgacaggaa cgtggagatc tggaagatca agaagctcat taagagcttg gaggcggccc
      241 gcggcaatgg caccagcatg atatcattga tcattcctcc caaagaccag atttcacgag
      301 tggcaaaaat gttagcggat gagtttggaa ctgcatctaa cattaagtca cgagtaaacc
      361 gcctttcagt cctgggagcc attacatctg tacaacaaag actcaaactt tataacaaag
      421 tacctccaaa tggtctggtt gtatactgtg gaacaattgt aacagaagaa ggaaaggaaa
      481 agaaagtcaa cattgacttt gaacctttca aaccaattaa tacgtcattg tatttgtgtg
      541 acaacaaatt ccatacagag gctcttacag cactactttc agatgatagc aagtttggat
      601 tcattgtaat agatggtagt ggtgcacttt ttggcacact ccaaggaaac acaagagaag
      661 tcctgcacaa attcactgtg gatctcccaa agaaacacgg tagaggaggt cagtcagcct
      721 tgcgttttgc ccgtttaaga atggaaaagc gacataacta tgttcggaaa gtagcagaga
      781 ctgctgtgca gctgtttatt tctggggaca aagtgaatgt ggctggtcta gttttagctg
      841 gatccgctga ctttaaaact gaactaagtc aatctgatat gtttgatcag aggttacaat
      901 caaaagtttt aaaattagtt gatatatcct atggtggtga aaatggattc aaccaagcta
      961 ttgagttatc tactgaagtc ctctccaacg tgaaattcat tcaagagaag aaattaatag
     1021 gacgatactt tgatgaaatc agccaggaca cgggcaagta ctgttttggc gttgaagata
     1081 cactaaaggc tttggaaatg ggagctgtag aaattctaat agtctatgaa aatctggata
     1141 taatgagata tgttcttcat tgccaaggca cagaagagga gaaaattctc tatctaactc
     1201 cagagcaaga aaaggataaa tctcatttca cagacaaaga gaccggacag gaacatgagc
     1261 ttatcgagag catgcccctg ttggaatggt ttgctaacaa ctataaaaaa tttggagcta
     1321 cgttggaaat tgtcacagat aaatcacaag aagggtctca gtttgtgaaa ggatttggtg
     1381 gaattggagg tatcttgcgg taccgagtag atttccaggg aatggaatac caaggaggag
     1441 acgatgaatt ttttgacctt gatgactact aggtagtcga catgggtccg gcaaaacgtg
     1501 cctcaccctc cagcatccaa cccaaggagc atacccatgg tggaatccaa acagatccct
     1561 gccttacaat tggaacattt ccagaactta atccatgagc attggatatt gaaaagaaaa
     1621 ccgaaacaaa accagaccca gccctacact ttggtttgtc atggtgtcag cgcagcagcc
     1681 tacaactaag ttcctaaacg ccactttgga ctaatttaaa aaagaatccc agtttttact
     1741 tttactggat ggtgaaattg gttgctcttg tattttatga aaaaaaatga tttttttaac
     1801 cttcatacat agaagcaaaa atactttaac tgctgtaaac cttcaaaagt taatagaagt
     1861 gagatcatac tggtttgttt cttattttga ttggagaaaa attaaattgc tgcatttcgc
     1921 agtgacccat ttacatggca ttctcagctt agactgcgta agaagaaata tatgtggtga
     1981 aatgttggaa ccatttctct cttggtctct gtttaatgtt gaaagggtga gctaatagga
     2041 ggcactttca acttcactcc ctcacgctac cccgtccccc tccagactgg cagtttcaag
     2101 gatgcaaatt gcattgcaaa atcaaactga ctcatgaagc atttgggcca gtgcactgtt
     2161 tacttccatc tgtttgcaga cacatttgtg cccggcgttt gggagccctt tgtatcaatg
     2221 ttctgacaag ggtccctata accttaacct actcgaaacc ggtttgggat ggatatgatg
     2281 gggcttctgt gctattgctg ggattgggag aaataaaaca tgcaatttaa gtggaagcga
     2341 agaaatttaa agaggatttt attttgcttg ggtcaatcct tgttaaaagg gaggtggatg
     2401 tgttttcctt gtgttggatg gcatgagatt atgtgaatgt tttgatttat taaaatgaac
     2461 tgcaaggttt ttcacaggaa cgacagacat gtatgactgc atgtaattat aaactcctga
     2521 cctcctggtg gggttggagc atctgtttca aatgtgggac ttacaagcac ttctcacatg
     2581 agaaattagg ggcgggtggg aagggatggg acacagcttc tggcaccatg gatttaagac
     2641 catgttggat ccaaaagttg gcctgaaacc ctgaagctta tgcttcacag ctgggctgta
     2701 agtcagactt gaacccagct gatatgcaag gtcatggcgt gcccagggtg gtgacagttg
     2761 aacaaagtgt atagtacgtg cccagtggta gcgatggaaa aaagtatacc aaatggactt
     2821 tgaaggacca aaggttttaa aagtcaattg gtatcacctc cacactgact agggtagtgg
     2881 ggtgcatttg gttttcaaat tgggtacttt taacacttta gtgcctgact gctgttcttt
     2941 actgacttga ttcagtcact cgtagcttta ttggtctgaa ccagctcctt gttcccaggt
     3001 tacagacctg cctatcgttc caataatcct gtttcacttg aatgaaggga gtatgtctta
     3061 aatgtaaagt ttctggttct cacactgtac tctgaggtcc aaatactgtc tgtcaatgtg
     3121 taacctgatg tctcaacccc ctgtgagaag agtccattat ttggtgttca ccaacgtggg
     3181 agacttcacc ggaacaggct tttttgcttt gggctctgct atttgtttgc agaacaccca
     3241 agagcgagca aacatgctct cttcacagca gtaccttagg gttttgccat tgtaaatggg
     3301 tctgatgtga tatgacaaga ccagagaaat tggatgtaaa tttacatttt tgaatatgct
     3361 tgttgtttca catgatacat ttagggtatg cagctccttt tgtagttttt atttttacta
     3421 tttaagtttg gaaatgatgc caaatttttg tatttcttta atcaatgtgt tctcttcggt
     3481 gatatatatt gcattatata ttgatgtgtg tatcaatata tattgatatg tattacactt
     3541 acacatacaa acacatataa gagggggtga aaaccgtagc ctttgcattc tctatagcct
     3601 ctgcagagag atactaagca gcaaaatctt ggtgttgtga tgtacagaaa tggagaagag
     3661 tattaaacca tatttaagaa ta
//
