LOCUS       NM_001322844            3558 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens elongation factor like GTPase 1 (EFL1), transcript
            variant 3, mRNA.
ACCESSION   NM_001322844 XM_011521999
VERSION     NM_001322844.2
KEYWORDS    RefSeq.
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 3558)
  AUTHORS   Khoroshkin,M., Buyan,A., Dodel,M., Navickas,A., Yu,J., Trejo,F.,
            Doty,A., Baratam,R., Zhou,S., Lee,S.B., Joshi,T., Garcia,K.,
            Choi,B., Miglani,S., Subramanyam,V., Modi,H., Carpenter,C.,
            Markett,D., Corces,M.R., Mardakheh,F.K., Kulakovskiy,I.V. and
            Goodarzi,H.
  TITLE     Systematic identification of post-transcriptional regulatory
            modules
  JOURNAL   Nat Commun 15 (1), 7872 (2024)
   PUBMED   39251607
  REMARK    Erratum:[Nat Commun. 2024 Oct 28;15(1):9277. doi:
            10.1038/s41467-024-52903-4.. PMID: 39468017]
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3558)
  AUTHORS   Lee,S., Shin,C.H., Lee,J., Jeong,S.D., Hong,C.R., Kim,J.D.,
            Kim,A.R., Park,B., Son,S.J., Kokhan,O., Yoo,T., Ko,J.S., Sohn,Y.B.,
            Kim,O.H., Ko,J.M., Cho,T.J., Wright,N.T., Seong,J.K., Jin,S.W.,
            Kang,H.J., Kim,H.H. and Choi,M.
  TITLE     Somatic uniparental disomy mitigates the most damaging EFL1 allele
            combination in Shwachman-Diamond syndrome
  JOURNAL   Blood 138 (21), 2117-2128 (2021)
   PUBMED   34115847
  REMARK    GeneRIF: Somatic uniparental disomy mitigates the most damaging
            EFL1 allele combination in Shwachman-Diamond syndrome.
            Erratum:[Blood. 2023 Aug 31;142(9):857. doi:
            10.1182/blood.2023021819.. PMID: 37651154]
REFERENCE   3  (bases 1 to 3558)
  AUTHORS   Delre,P., Alberga,D., Gijsbers,A., Sanchez-Puig,N., Nicolotti,O.,
            Saviano,M., Siliqi,D. and Mangiatordi,G.F.
  TITLE     Exploring the role of elongation Factor-Like 1 (EFL1) in
            Shwachman-Diamond syndrome through molecular dynamics
  JOURNAL   J Biomol Struct Dyn 38 (17), 5219-5229 (2020)
   PUBMED   31838967
  REMARK    GeneRIF: Exploring the role of elongation Factor-Like 1 (EFL1) in
            Shwachman-Diamond syndrome through molecular dynamics.
REFERENCE   4  (bases 1 to 3558)
  AUTHORS   Tan,S., Kermasson,L., Hoslin,A., Jaako,P., Faille,A.,
            Acevedo-Arozena,A., Lengline,E., Ranta,D., Poiree,M., Fenneteau,O.,
            Ducou le Pointe,H., Fumagalli,S., Beaupain,B., Nitschke,P.,
            Bole-Feysot,C., de Villartay,J.P., Bellanne-Chantelot,C.,
            Donadieu,J., Kannengiesser,C., Warren,A.J. and Revy,P.
  TITLE     EFL1 mutations impair eIF6 release to cause Shwachman-Diamond
            syndrome
  JOURNAL   Blood 134 (3), 277-290 (2019)
   PUBMED   31151987
  REMARK    GeneRIF: we report biallelic mutations in EFL1 in 3 unrelated
            individuals with clinical features of SDS. Cellular defects in
            these individuals include impaired ribosomal subunit joining and
            attenuated global protein translation as a consequence of defective
            eIF6 eviction.
REFERENCE   5  (bases 1 to 3558)
  AUTHORS   Gijsbers,A., Montagut,D.C., Mendez-Godoy,A., Altamura,D.,
            Saviano,M., Siliqi,D. and Sanchez-Puig,N.
  TITLE     Interaction of the GTPase Elongation Factor Like-1 with the
            Shwachman-Diamond Syndrome Protein and Its Missense Mutations
  JOURNAL   Int J Mol Sci 19 (12), 4012 (2018)
   PUBMED   30545121
  REMARK    GeneRIF: the effect of SBDS mutations on the interaction with
            EFL1were tested, and showed that all tested mutations disrupted the
            binding to EFL1.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3558)
  AUTHORS   Finch,A.J., Hilcenko,C., Basse,N., Drynan,L.F., Goyenechea,B.,
            Menne,T.F., Gonzalez Fernandez,A., Simpson,P., D'Santos,C.S.,
            Arends,M.J., Donadieu,J., Bellanne-Chantelot,C., Costanzo,M.,
            Boone,C., McKenzie,A.N., Freund,S.M. and Warren,A.J.
  TITLE     Uncoupling of GTP hydrolysis from eIF6 release on the ribosome
            causes Shwachman-Diamond syndrome
  JOURNAL   Genes Dev 25 (9), 917-929 (2011)
   PUBMED   21536732
REFERENCE   7  (bases 1 to 3558)
  AUTHORS   Dong,C., Beecham,A., Slifer,S., Wang,L., Blanton,S.H., Wright,C.B.,
            Rundek,T. and Sacco,R.L.
  TITLE     Genomewide linkage and peakwide association analyses of carotid
            plaque in Caribbean Hispanics
  JOURNAL   Stroke 41 (12), 2750-2756 (2010)
   PUBMED   20966410
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 3558)
  AUTHORS   Nicolas,E., Poitelon,Y., Chouery,E., Salem,N., Levy,N.,
            Megarbane,A. and Delague,V.
  TITLE     CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar
            ataxia, is caused by a mutant zinc-finger protein, ZNF592
  JOURNAL   Eur J Hum Genet 18 (10), 1107-1113 (2010)
   PUBMED   20531441
REFERENCE   9  (bases 1 to 3558)
  AUTHORS   Harrington,J.J., Sherf,B., Rundlett,S., Jackson,P.D., Perry,R.,
            Cain,S., Leventhal,C., Thornton,M., Ramachandran,R.,
            Whittington,J., Lerner,L., Costanzo,D., McElligott,K., Boozer,S.,
            Mays,R., Smith,E., Veloso,N., Klika,A., Hess,J., Cothren,K., Lo,K.,
            Offenbacher,J., Danzig,J. and Ducar,M.
  TITLE     Creation of genome-wide protein expression libraries using random
            activation of gene expression
  JOURNAL   Nat Biotechnol 19 (5), 440-445 (2001)
   PUBMED   11329013
REFERENCE   10 (bases 1 to 3558)
  AUTHORS   Nelson,A. and Myers,K.
  TITLE     Shwachman-Diamond Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301722
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC026624.8 and AC026956.20.
            
            On Aug 13, 2020 this sequence version replaced NM_001322844.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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 :: SRR14038196.3216881.1,
                                           SRR14038192.1528721.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-121               AC026624.8         24897-25017
            122-231             AC026624.8         25834-25943
            232-299             AC026624.8         28476-28543
            300-433             AC026624.8         46228-46361
            434-571             AC026624.8         47076-47213
            572-786             AC026624.8         49110-49324
            787-910             AC026624.8         56660-56783
            911-987             AC026624.8         58521-58597
            988-1124            AC026624.8         59304-59440
            1125-1247           AC026624.8         60059-60181
            1248-1347           AC026624.8         62367-62466
            1348-1499           AC026624.8         67402-67553
            1500-1666           AC026624.8         67813-67979
            1667-1805           AC026624.8         72776-72914
            1806-1937           AC026624.8         123647-123778
            1938-2085           AC026956.20        215080-215227       c
            2086-3044           AC026956.20        208832-209790       c
            3045-3229           AC026956.20        196025-196209       c
            3230-3558           AC026956.20        187600-187928       c
FEATURES             Location/Qualifiers
     source          1..3558
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q25.2"
     gene            1..3558
                     /gene="EFL1"
                     /gene_synonym="EFTUD1; FAM42A; HsT19294; RIA1; SDS2"
                     /note="elongation factor like GTPase 1"
                     /db_xref="GeneID:79631"
                     /db_xref="HGNC:HGNC:25789"
                     /db_xref="MIM:617538"
     exon            1..121
                     /gene="EFL1"
                     /gene_synonym="EFTUD1; FAM42A; HsT19294; RIA1; SDS2"
                     /inference="alignment:Splign:2.1.0"
     exon            122..231
                     /gene="EFL1"
                     /gene_synonym="EFTUD1; FAM42A; HsT19294; RIA1; SDS2"
                     /inference="alignment:Splign:2.1.0"
     exon            232..299
                     /gene="EFL1"
                     /gene_synonym="EFTUD1; FAM42A; HsT19294; RIA1; SDS2"
                     /inference="alignment:Splign:2.1.0"
     exon            300..433
                     /gene="EFL1"
                     /gene_synonym="EFTUD1; FAM42A; HsT19294; RIA1; SDS2"
                     /inference="alignment:Splign:2.1.0"
     exon            434..571
                     /gene="EFL1"
                     /gene_synonym="EFTUD1; FAM42A; HsT19294; RIA1; SDS2"
                     /inference="alignment:Splign:2.1.0"
     exon            572..786
                     /gene="EFL1"
                     /gene_synonym="EFTUD1; FAM42A; HsT19294; RIA1; SDS2"
                     /inference="alignment:Splign:2.1.0"
     exon            787..910
                     /gene="EFL1"
                     /gene_synonym="EFTUD1; FAM42A; HsT19294; RIA1; SDS2"
                     /inference="alignment:Splign:2.1.0"
     CDS             845..3418
                     /gene="EFL1"
                     /gene_synonym="EFTUD1; FAM42A; HsT19294; RIA1; SDS2"
                     /note="isoform 3 is encoded by transcript variant 3;
                     ribosome assembly 1 homolog; elongation factor Tu
                     GTP-binding domain-containing protein 1; elongation
                     factor-like 1; elongation factor Tu GTP binding domain
                     containing 1"
                     /codon_start=1
                     /product="elongation factor-like GTPase 1 isoform 3"
                     /protein_id="NP_001309773.1"
                     /db_xref="GeneID:79631"
                     /db_xref="HGNC:HGNC:25789"
                     /db_xref="MIM:617538"
                     /translation="MKTLWGDYYINMKAKKIMKGDQAKGKKPLFVQLILENIWSLYDA
                     VLKKDKDKIDKIVTSLGLKIGAREARHSDPKVQINAICSQWLPISHAVLAMVCQKLPS
                     PLDITAERVERLMCTGSQTFDSFPPETQALKAAFMKCGSEDTAPVIIFVSKMFAVDAK
                     ALPQNKPRPLTQEEIAQRRERARQRHAEKLAAAQGQAPLEPTQDGSAIETCPKGEEPR
                     GDEQQVESMTPKPVLQEENNQESFIAFARVFSGVARRGKKIFVLGPKYSPLEFLRRVP
                     LGFSAPPDGLPQVPHMAYCALENLYLLMGRELEYLEEVPPGNVLGIGGLQDFVLKSAT
                     LCSLPSCPPFIPLNFEATPIVRVAVEPKHPSEMPQLVKGMKLLNQADPCVQILIQETG
                     EHVLVTAGEVHLQRCLDDLKERFAKIHISVSEPIIPFRETITKPPKVDMVNEEIGKQQ
                     KVAVIHQMKEDQSKIPEGIQVDSDGLITITTPNKLATLSVRAMPLPEEVTQILEENSD
                     LIRSMEQLTSSLNEGENTHMIHQKTQEKIWEFKGKLEQHLTGRRWRNIVDQIWSFGPR
                     KCGPNILVNKSEDFQNSVWTGPADKASKEASRYRDLGNSIVSGFQLATLSGPMCEEPL
                     MGVCFVLEKWDLSKFEEQGASDLAKEGQEENETCSGGNENQELQDGCSEAFEKRTSQK
                     GESPLTDCYGPFSGQLIATMKEACRYALQVKPQRLMAAMYTCDIMATGDVLGRVYAVL
                     SKREGRVLQEEMKEGTDMFIIKAVLPVAESFGFADEIRKRTSGLASPQLVFSHWEIIP
                     SDPFWVPTTEEEYLHFGEKADSENQARKYMNAVRKRKGLYVEEKIVEHAEKQRTLSKN
                     K"
     exon            911..987
                     /gene="EFL1"
                     /gene_synonym="EFTUD1; FAM42A; HsT19294; RIA1; SDS2"
                     /inference="alignment:Splign:2.1.0"
     exon            988..1124
                     /gene="EFL1"
                     /gene_synonym="EFTUD1; FAM42A; HsT19294; RIA1; SDS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1125..1247
                     /gene="EFL1"
                     /gene_synonym="EFTUD1; FAM42A; HsT19294; RIA1; SDS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1248..1347
                     /gene="EFL1"
                     /gene_synonym="EFTUD1; FAM42A; HsT19294; RIA1; SDS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1348..1499
                     /gene="EFL1"
                     /gene_synonym="EFTUD1; FAM42A; HsT19294; RIA1; SDS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1500..1666
                     /gene="EFL1"
                     /gene_synonym="EFTUD1; FAM42A; HsT19294; RIA1; SDS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1667..1805
                     /gene="EFL1"
                     /gene_synonym="EFTUD1; FAM42A; HsT19294; RIA1; SDS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1806..1937
                     /gene="EFL1"
                     /gene_synonym="EFTUD1; FAM42A; HsT19294; RIA1; SDS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1938..2085
                     /gene="EFL1"
                     /gene_synonym="EFTUD1; FAM42A; HsT19294; RIA1; SDS2"
                     /inference="alignment:Splign:2.1.0"
     exon            2086..3044
                     /gene="EFL1"
                     /gene_synonym="EFTUD1; FAM42A; HsT19294; RIA1; SDS2"
                     /inference="alignment:Splign:2.1.0"
     exon            3045..3229
                     /gene="EFL1"
                     /gene_synonym="EFTUD1; FAM42A; HsT19294; RIA1; SDS2"
                     /inference="alignment:Splign:2.1.0"
     exon            3230..3558
                     /gene="EFL1"
                     /gene_synonym="EFTUD1; FAM42A; HsT19294; RIA1; SDS2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3529..3534
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EFL1"
                     /gene_synonym="EFTUD1; FAM42A; HsT19294; RIA1; SDS2"
                     /note="hexamer: AATAAA"
     polyA_site      3558
                     /gene="EFL1"
                     /gene_synonym="EFTUD1; FAM42A; HsT19294; RIA1; SDS2"
                     /note="major polyA site"
ORIGIN      
        1 agccggcccc gccccctggc gcgcgggcgt gtcggacccg cagagctctc ggactttcgg
       61 aagctctcgg tgtgggtgcg acccgagaga aggagcgggg ctggtggggc tgctgcagcc
      121 gtcacaggaa ataagtaatc atggtgctca acagtttgga taagatgatt caactccaga
      181 aaaacactgc caacatcagg aatatttgtg ttttggctca tgttgaccat ggaaaaacta
      241 ctctggctga ctgtcttata tctagcaatg gaatcatctc cagccgccta gcaggcaagg
      301 taatgaggag tacctgatca atctgataga ctctccagga cacgtggact tttcctcaga
      361 agtatcaacc gctgttcgca tttgtgatgg atgcatcatt gtggtagatg ctgtggaagg
      421 agtctgtcca cagacacagg cagttctgcg acaagcttgg cttgaaaaca tccgtccggt
      481 tttagtgatt aataagattg atcgcttgat agtggaactg aaattcaccc cacaagaggc
      541 ctattctcac ctcaagaata ttttagaaca gattaatgcg ctcacaggga ctctttttac
      601 ttctaaagtc ctagaagaaa gagcagagag ggagactgaa tcccaagtga atccaaattc
      661 tgaacaagga gagcaagtat atgactggag cactggcttg gaggacacag atgattctca
      721 cctttacttc tctccagaac agggaaatgt ggtgtttacc agtgcaatag atgggtgggg
      781 ctttggaatt gagcacttcg ccagaatcta cagtcaaaaa attggcatca aaaaggaagt
      841 tcttatgaaa accttgtggg gagattacta tataaatatg aaggctaaaa agatcatgaa
      901 gggtgatcag gccaaaggaa agaaaccttt atttgtacag ttgatcctgg aaaatatatg
      961 gagtttgtat gatgctgttt tgaaaaagga caaagacaaa attgataaaa tagtgacttc
     1021 tttaggatta aaaattggag cccgggaggc acgacattca gaccctaaag ttcagatcaa
     1081 cgccatttgc agtcagtggc tacccatatc ccatgctgtt cttgctatgg tgtgtcagaa
     1141 acttcctagt ccccttgata ttacagctga gagagtggag agactgatgt gcacaggatc
     1201 acaaactttt gactcttttc caccagaaac tcaagcactg aaagcagctt ttatgaaatg
     1261 tggaagtgag gacactgctc cagttattat atttgtttcc aaaatgtttg cagttgatgc
     1321 taaggccttg cctcagaata agccaaggcc tctcactcaa gaagaaattg ctcagagacg
     1381 tgagcgtgca agacaaaggc atgcagagaa gcttgcagca gcacagggac aggcaccctt
     1441 ggagcccacc caagatggga gtgccattga aacatgtcca aaaggagagg agccaagagg
     1501 tgacgagcaa caggtggaaa gtatgacccc taaacctgtg ctccaggaag aaaacaacca
     1561 agagtctttt attgcatttg ctcgggtgtt cagtggtgtg gctcgaagag gaaagaaaat
     1621 ttttgtcttg gggcccaaat acagtcctct tgagttttta cgaagggtac cattaggctt
     1681 ctcagctcca ccagatggcc tcccccaagt cccccacatg gcatactgtg ctctggaaaa
     1741 cctgtatctt ctgatgggaa gggaactgga atatctagag gaggtacctc caggaaatgt
     1801 gctaggaata ggaggccttc aagattttgt gctgaaatct gcaacactgt gtagcctgcc
     1861 atcctgccca ccatttatac cactcaactt cgaagccact cctattgtga gagttgctgt
     1921 tgaaccaaaa catccaagtg aaatgcctca gctcgtaaaa ggaatgaaac tgttaaacca
     1981 ggctgatccc tgtgtccaga ttttaattca ggaaacggga gagcacgttt tagtcacagc
     2041 aggagaagtc caccttcagc gatgcctgga tgacttaaaa gaaaggtttg caaagattca
     2101 tatcagtgta tctgaaccta ttattccatt cagagaaaca atcacaaaac ccccaaaagt
     2161 tgacatggtc aatgaagaaa taggcaaaca gcaaaaagtt gcagtcatac accaaatgaa
     2221 agaagatcaa agcaaaatcc ctgaaggaat ccaagttgac tctgacgggc taatcaccat
     2281 aacaactccc aataaacttg ccacgctcag tgttcgagcc atgccccttc cagaagaagt
     2341 cacccagatt ctggaagaaa atagtgattt gattcgttct atggagcagt tgacatcctc
     2401 tttgaatgag ggtgaaaata ctcacatgat tcatcagaag acccaagaga aaatttggga
     2461 attcaaagga aaactggagc aacacctaac agggagaaga tggaggaaca ttgttgacca
     2521 aatctggtca tttggcccaa gaaaatgtgg gcccaacata ctagtcaata aaagtgaaga
     2581 ttttcagaac tcagtatgga caggtccagc tgacaaagct tcaaaagaag ccagtagata
     2641 ccgagatttg ggcaatagca ttgtgagtgg cttccaacta gcaaccctct ctggccccat
     2701 gtgtgaggag cctctcatgg gtgtctgttt tgttctggaa aaatgggacc taagtaaatt
     2761 tgaggaacaa ggagcaagtg atctggcaaa agagggacag gaggaaaatg aaacctgttc
     2821 tggtggaaat gaaaaccaag agctacaaga tggctgctct gaggcctttg agaagaggac
     2881 atcacagaaa ggagaatctc cactcactga ctgctatgga cctttctcag gacagctaat
     2941 tgccaccatg aaagaagcat gtcgctatgc actgcaagtg aaacctcagc gcctgatggc
     3001 agctatgtac acatgtgaca tcatggccac tggtgatgtt ctcggtcgag tctatgctgt
     3061 cttgtcaaag agagaaggtc gggtacttca agaagaaatg aaagaaggga cagacatgtt
     3121 catcatcaag gctgtgctgc ctgttgctga aagctttggt tttgctgatg aaatcaggaa
     3181 gaggacaagt ggcctggcca gcccacaact agtattcagc cattgggaga tcattcccag
     3241 tgaccccttc tgggtgccaa ctactgagga ggaatacttg cactttgggg agaaggctga
     3301 ctctgagaac caagcccgga agtacatgaa cgcagtacga aagcggaagg ggctttatgt
     3361 ggaagaaaag attgtggagc atgcagaaaa gcagaggaca ctcagcaaaa ataagtagct
     3421 acctactact ggtggattct tttccttata gtgaatttaa aagtatcatc aagggtttaa
     3481 tattgggaaa atttcttttt gccacattat ctctgtttat tcactttcaa taaagttgat
     3541 ccatataaat attttaaa
//
