LOCUS       NM_024580               3643 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens elongation factor like GTPase 1 (EFL1), transcript
            variant 1, mRNA.
ACCESSION   NM_024580
VERSION     NM_024580.6
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 3643)
  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 3643)
  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 3643)
  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 3643)
  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 3643)
  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 3643)
  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 3643)
  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 3643)
  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 3643)
  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 3643)
  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, BC014628.2 and AC026956.20.
            
            On Nov 23, 2018 this sequence version replaced NM_024580.5.
            
            Transcript Variant: This variant (1) encodes the the longest
            isoform (1).
            
            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 :: SRR1803615.200663.1,
                                           SRR1660809.130819.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000268206.12/ ENSP00000268206.7
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-84                AC026624.8         24897-24980
            85-1573             BC014628.2         1-1489
            1574-1574           AC026624.8         67543-67543
            1575-2497           BC014628.2         1491-2413
            2498-2996           AC026956.20        208965-209463       c
            2997-3643           BC014628.2         2914-3560
FEATURES             Location/Qualifiers
     source          1..3643
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q25.2"
     gene            1..3643
                     /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"
     CDS             141..3503
                     /gene="EFL1"
                     /gene_synonym="EFTUD1; FAM42A; HsT19294; RIA1; SDS2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     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 1"
                     /protein_id="NP_078856.4"
                     /db_xref="CCDS:CCDS42071.1"
                     /db_xref="GeneID:79631"
                     /db_xref="HGNC:HGNC:25789"
                     /db_xref="MIM:617538"
                     /translation="MVLNSLDKMIQLQKNTANIRNICVLAHVDHGKTTLADCLISSNG
                     IISSRLAGKLRYMDSREDEQIRGITMKSSAISLHYATGNEEYLINLIDSPGHVDFSSE
                     VSTAVRICDGCIIVVDAVEGVCPQTQAVLRQAWLENIRPVLVINKIDRLIVELKFTPQ
                     EAYSHLKNILEQINALTGTLFTSKVLEERAERETESQVNPNSEQGEQVYDWSTGLEDT
                     DDSHLYFSPEQGNVVFTSAIDGWGFGIEHFARIYSQKIGIKKEVLMKTLWGDYYINMK
                     AKKIMKGDQAKGKKPLFVQLILENIWSLYDAVLKKDKDKIDKIVTSLGLKIGAREARH
                     SDPKVQINAICSQWLPISHAVLAMVCQKLPSPLDITAERVERLMCTGSQTFDSFPPET
                     QALKAAFMKCGSEDTAPVIIFVSKMFAVDAKALPQNKPRPLTQEEIAQRRERARQRHA
                     EKLAAAQGQAPLEPTQDGSAIETCPKGEEPRGDEQQVESMTPKPVLQEENNQESFIAF
                     ARVFSGVARRGKKIFVLGPKYSPLEFLRRVPLGFSAPPDGLPQVPHMAYCALENLYLL
                     MGRELEYLEEVPPGNVLGIGGLQDFVLKSATLCSLPSCPPFIPLNFEATPIVRVAVEP
                     KHPSEMPQLVKGMKLLNQADPCVQILIQETGEHVLVTAGEVHLQRCLDDLKERFAKIH
                     ISVSEPIIPFRETITKPPKVDMVNEEIGKQQKVAVIHQMKEDQSKIPEGIQVDSDGLI
                     TITTPNKLATLSVRAMPLPEEVTQILEENSDLIRSMEQLTSSLNEGENTHMIHQKTQE
                     KIWEFKGKLEQHLTGRRWRNIVDQIWSFGPRKCGPNILVNKSEDFQNSVWTGPADKAS
                     KEASRYRDLGNSIVSGFQLATLSGPMCEEPLMGVCFVLEKWDLSKFEEQGASDLAKEG
                     QEENETCSGGNENQELQDGCSEAFEKRTSQKGESPLTDCYGPFSGQLIATMKEACRYA
                     LQVKPQRLMAAMYTCDIMATGDVLGRVYAVLSKREGRVLQEEMKEGTDMFIIKAVLPV
                     AESFGFADEIRKRTSGLASPQLVFSHWEIIPSDPFWVPTTEEEYLHFGEKADSENQAR
                     KYMNAVRKRKGLYVEEKIVEHAEKQRTLSKNK"
     exon            232..299
                     /gene="EFL1"
                     /gene_synonym="EFTUD1; FAM42A; HsT19294; RIA1; SDS2"
                     /inference="alignment:Splign:2.1.0"
     exon            300..384
                     /gene="EFL1"
                     /gene_synonym="EFTUD1; FAM42A; HsT19294; RIA1; SDS2"
                     /inference="alignment:Splign:2.1.0"
     exon            385..518
                     /gene="EFL1"
                     /gene_synonym="EFTUD1; FAM42A; HsT19294; RIA1; SDS2"
                     /inference="alignment:Splign:2.1.0"
     exon            519..656
                     /gene="EFL1"
                     /gene_synonym="EFTUD1; FAM42A; HsT19294; RIA1; SDS2"
                     /inference="alignment:Splign:2.1.0"
     exon            657..871
                     /gene="EFL1"
                     /gene_synonym="EFTUD1; FAM42A; HsT19294; RIA1; SDS2"
                     /inference="alignment:Splign:2.1.0"
     exon            872..995
                     /gene="EFL1"
                     /gene_synonym="EFTUD1; FAM42A; HsT19294; RIA1; SDS2"
                     /inference="alignment:Splign:2.1.0"
     exon            996..1072
                     /gene="EFL1"
                     /gene_synonym="EFTUD1; FAM42A; HsT19294; RIA1; SDS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1073..1209
                     /gene="EFL1"
                     /gene_synonym="EFTUD1; FAM42A; HsT19294; RIA1; SDS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1210..1332
                     /gene="EFL1"
                     /gene_synonym="EFTUD1; FAM42A; HsT19294; RIA1; SDS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1333..1432
                     /gene="EFL1"
                     /gene_synonym="EFTUD1; FAM42A; HsT19294; RIA1; SDS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1433..1584
                     /gene="EFL1"
                     /gene_synonym="EFTUD1; FAM42A; HsT19294; RIA1; SDS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1585..1751
                     /gene="EFL1"
                     /gene_synonym="EFTUD1; FAM42A; HsT19294; RIA1; SDS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1752..1890
                     /gene="EFL1"
                     /gene_synonym="EFTUD1; FAM42A; HsT19294; RIA1; SDS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1891..2022
                     /gene="EFL1"
                     /gene_synonym="EFTUD1; FAM42A; HsT19294; RIA1; SDS2"
                     /inference="alignment:Splign:2.1.0"
     exon            2023..2170
                     /gene="EFL1"
                     /gene_synonym="EFTUD1; FAM42A; HsT19294; RIA1; SDS2"
                     /inference="alignment:Splign:2.1.0"
     exon            2171..3129
                     /gene="EFL1"
                     /gene_synonym="EFTUD1; FAM42A; HsT19294; RIA1; SDS2"
                     /inference="alignment:Splign:2.1.0"
     exon            3130..3314
                     /gene="EFL1"
                     /gene_synonym="EFTUD1; FAM42A; HsT19294; RIA1; SDS2"
                     /inference="alignment:Splign:2.1.0"
     exon            3315..3643
                     /gene="EFL1"
                     /gene_synonym="EFTUD1; FAM42A; HsT19294; RIA1; SDS2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3614..3619
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EFL1"
                     /gene_synonym="EFTUD1; FAM42A; HsT19294; RIA1; SDS2"
                     /note="hexamer: AATAAA"
     polyA_site      3643
                     /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 gcaggcaagt
      301 taaggtacat ggacagcaga gaagatgaac agatccgagg gatcactatg aaatccagtg
      361 ccatttccct acattatgca acaggtaatg aggagtacct gatcaatctg atagactctc
      421 caggacacgt ggacttttcc tcagaagtat caaccgctgt tcgcatttgt gatggatgca
      481 tcattgtggt agatgctgtg gaaggagtct gtccacagac acaggcagtt ctgcgacaag
      541 cttggcttga aaacatccgt ccggttttag tgattaataa gattgatcgc ttgatagtgg
      601 aactgaaatt caccccacaa gaggcctatt ctcacctcaa gaatatttta gaacagatta
      661 atgcgctcac agggactctt tttacttcta aagtcctaga agaaagagca gagagggaga
      721 ctgaatccca agtgaatcca aattctgaac aaggagagca agtatatgac tggagcactg
      781 gcttggagga cacagatgat tctcaccttt acttctctcc agaacaggga aatgtggtgt
      841 ttaccagtgc aatagatggg tggggctttg gaattgagca cttcgccaga atctacagtc
      901 aaaaaattgg catcaaaaag gaagttctta tgaaaacctt gtggggagat tactatataa
      961 atatgaaggc taaaaagatc atgaagggtg atcaggccaa aggaaagaaa cctttatttg
     1021 tacagttgat cctggaaaat atatggagtt tgtatgatgc tgttttgaaa aaggacaaag
     1081 acaaaattga taaaatagtg acttctttag gattaaaaat tggagcccgg gaggcacgac
     1141 attcagaccc taaagttcag atcaacgcca tttgcagtca gtggctaccc atatcccatg
     1201 ctgttcttgc tatggtgtgt cagaaacttc ctagtcccct tgatattaca gctgagagag
     1261 tggagagact gatgtgcaca ggatcacaaa cttttgactc ttttccacca gaaactcaag
     1321 cactgaaagc agcttttatg aaatgtggaa gtgaggacac tgctccagtt attatatttg
     1381 tttccaaaat gtttgcagtt gatgctaagg ccttgcctca gaataagcca aggcctctca
     1441 ctcaagaaga aattgctcag agacgtgagc gtgcaagaca aaggcatgca gagaagcttg
     1501 cagcagcaca gggacaggca cccttggagc ccacccaaga tgggagtgcc attgaaacat
     1561 gtccaaaagg agaggagcca agaggtgacg agcaacaggt ggaaagtatg acccctaaac
     1621 ctgtgctcca ggaagaaaac aaccaagagt cttttattgc atttgctcgg gtgttcagtg
     1681 gtgtggctcg aagaggaaag aaaatttttg tcttggggcc caaatacagt cctcttgagt
     1741 ttttacgaag ggtaccatta ggcttctcag ctccaccaga tggcctcccc caagtccccc
     1801 acatggcata ctgtgctctg gaaaacctgt atcttctgat gggaagggaa ctggaatatc
     1861 tagaggaggt acctccagga aatgtgctag gaataggagg ccttcaagat tttgtgctga
     1921 aatctgcaac actgtgtagc ctgccatcct gcccaccatt tataccactc aacttcgaag
     1981 ccactcctat tgtgagagtt gctgttgaac caaaacatcc aagtgaaatg cctcagctcg
     2041 taaaaggaat gaaactgtta aaccaggctg atccctgtgt ccagatttta attcaggaaa
     2101 cgggagagca cgttttagtc acagcaggag aagtccacct tcagcgatgc ctggatgact
     2161 taaaagaaag gtttgcaaag attcatatca gtgtatctga acctattatt ccattcagag
     2221 aaacaatcac aaaaccccca aaagttgaca tggtcaatga agaaataggc aaacagcaaa
     2281 aagttgcagt catacaccaa atgaaagaag atcaaagcaa aatccctgaa ggaatccaag
     2341 ttgactctga cgggctaatc accataacaa ctcccaataa acttgccacg ctcagtgttc
     2401 gagccatgcc ccttccagaa gaagtcaccc agattctgga agaaaatagt gatttgattc
     2461 gttctatgga gcagttgaca tcctctttga atgagggtga aaatactcac atgattcatc
     2521 agaagaccca agagaaaatt tgggaattca aaggaaaact ggagcaacac ctaacaggga
     2581 gaagatggag gaacattgtt gaccaaatct ggtcatttgg cccaagaaaa tgtgggccca
     2641 acatactagt caataaaagt gaagattttc agaactcagt atggacaggt ccagctgaca
     2701 aagcttcaaa agaagccagt agataccgag atttgggcaa tagcattgtg agtggcttcc
     2761 aactagcaac cctctctggc cccatgtgtg aggagcctct catgggtgtc tgttttgttc
     2821 tggaaaaatg ggacctaagt aaatttgagg aacaaggagc aagtgatctg gcaaaagagg
     2881 gacaggagga aaatgaaacc tgttctggtg gaaatgaaaa ccaagagcta caagatggct
     2941 gctctgaggc ctttgagaag aggacatcac agaaaggaga atctccactc actgactgct
     3001 atggaccttt ctcaggacag ctaattgcca ccatgaaaga agcatgtcgc tatgcactgc
     3061 aagtgaaacc tcagcgcctg atggcagcta tgtacacatg tgacatcatg gccactggtg
     3121 atgttctcgg tcgagtctat gctgtcttgt caaagagaga aggtcgggta cttcaagaag
     3181 aaatgaaaga agggacagac atgttcatca tcaaggctgt gctgcctgtt gctgaaagct
     3241 ttggttttgc tgatgaaatc aggaagagga caagtggcct ggccagccca caactagtat
     3301 tcagccattg ggagatcatt cccagtgacc ccttctgggt gccaactact gaggaggaat
     3361 acttgcactt tggggagaag gctgactctg agaaccaagc ccggaagtac atgaacgcag
     3421 tacgaaagcg gaaggggctt tatgtggaag aaaagattgt ggagcatgca gaaaagcaga
     3481 ggacactcag caaaaataag tagctaccta ctactggtgg attcttttcc ttatagtgaa
     3541 tttaaaagta tcatcaaggg tttaatattg ggaaaatttc tttttgccac attatctctg
     3601 tttattcact ttcaataaag ttgatccata taaatatttt aaa
//
