LOCUS       NM_022170               2563 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens eukaryotic translation initiation factor 4H (EIF4H),
            transcript variant 1, mRNA.
ACCESSION   NM_022170
VERSION     NM_022170.2
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 2563)
  AUTHORS   Zhang,S., Bao,Y., Shen,X., Pan,Y., Sun,Y., Xiao,M., Chen,K.,
            Wei,H., Zuo,J., Saffen,D., Zong,W.X., Sun,Y., Wang,Z. and Wang,Y.
  TITLE     RNA binding motif protein 10 suppresses lung cancer progression by
            controlling alternative splicing of eukaryotic translation
            initiation factor 4H
  JOURNAL   EBioMedicine 61, 103067 (2020)
   PUBMED   33130397
  REMARK    GeneRIF: RNA binding motif protein 10 suppresses lung cancer
            progression by controlling alternative splicing of eukaryotic
            translation initiation factor 4H.
REFERENCE   2  (bases 1 to 2563)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2563)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2563)
  AUTHORS   Goodman,L.D., Prudencio,M., Srinivasan,A.R., Rifai,O.M., Lee,V.M.,
            Petrucelli,L. and Bonini,N.M.
  TITLE     eIF4B and eIF4H mediate GR production from expanded G4C2 in a
            Drosophila model for C9orf72-associated ALS
  JOURNAL   Acta Neuropathol Commun 7 (1), 62 (2019)
   PUBMED   31023341
  REMARK    GeneRIF: eIF4B and eIF4H mediate GR production from expanded G4C2
            in a Drosophila model for C9orf72-associated amyotrophic lateral
            sclerosis.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2563)
  AUTHORS   Bai,Y., Lu,C., Zhang,G., Hou,Y., Guo,Y., Zhou,H., Ma,X. and Zhao,G.
  TITLE     Overexpression of miR-519d in lung adenocarcinoma inhibits cell
            proliferation and invasion via the association of eIF4H
  JOURNAL   Tumour Biol 39 (3), 1010428317694566 (2017)
   PUBMED   28351305
  REMARK    GeneRIF: The results from these procedures revealed eIF4H to be one
            of the targets of miR-519d. Downregulated eIF4H was analogous to
            the overexpressed miR-519d obtained from miR-519d agomir and
            si-eIF4H transfection. In summary, it can be concluded that
            miR-519d targets eIF4H in lung adenocarcinoma to inhibit cell
            proliferation and invasion
REFERENCE   6  (bases 1 to 2563)
  AUTHORS   Rogers,G.W. Jr., Richter,N.J., Lima,W.F. and Merrick,W.C.
  TITLE     Modulation of the helicase activity of eIF4A by eIF4B, eIF4H, and
            eIF4F
  JOURNAL   J Biol Chem 276 (33), 30914-30922 (2001)
   PUBMED   11418588
REFERENCE   7  (bases 1 to 2563)
  AUTHORS   Martindale,D.W., Wilson,M.D., Wang,D., Burke,R.D., Chen,X.,
            Duronio,V. and Koop,B.F.
  TITLE     Comparative genomic sequence analysis of the Williams syndrome
            region (LIMK1-RFC2) of human chromosome 7q11.23
  JOURNAL   Mamm Genome 11 (10), 890-898 (2000)
   PUBMED   11003705
REFERENCE   8  (bases 1 to 2563)
  AUTHORS   Richter,N.J., Rogers,G.W. Jr., Hensold,J.O. and Merrick,W.C.
  TITLE     Further biochemical and kinetic characterization of human
            eukaryotic initiation factor 4H
  JOURNAL   J Biol Chem 274 (50), 35415-35424 (1999)
   PUBMED   10585411
REFERENCE   9  (bases 1 to 2563)
  AUTHORS   Richter-Cook,N.J., Dever,T.E., Hensold,J.O. and Merrick,W.C.
  TITLE     Purification and characterization of a new eukaryotic protein
            translation factor. Eukaryotic initiation factor 4H
  JOURNAL   J Biol Chem 273 (13), 7579-7587 (1998)
   PUBMED   9516461
REFERENCE   10 (bases 1 to 2563)
  AUTHORS   Osborne,L.R., Martindale,D., Scherer,S.W., Shi,X.M., Huizenga,J.,
            Heng,H.H., Costa,T., Pober,B., Lew,L., Brinkman,J., Rommens,J.,
            Koop,B. and Tsui,L.C.
  TITLE     Identification of genes from a 500-kb region at 7q11.23 that is
            commonly deleted in Williams syndrome patients
  JOURNAL   Genomics 36 (2), 328-336 (1996)
   PUBMED   8812460
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005057.2 and AC005081.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_022170.1.
            
            Summary: This gene encodes one of the translation initiation
            factors, which functions to stimulate the initiation of protein
            synthesis at the level of mRNA utilization. This gene is deleted in
            Williams syndrome, a multisystem developmental disorder caused by
            the deletion of contiguous genes at 7q11.23. Alternative splicing
            of this gene generates 2 transcript variants. [provided by RefSeq,
            Jul 2008].
            
            Transcript Variant: This variant (1) encodes the longer 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 :: SRR1163655.590792.1,
                                           SRR1163657.70111.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000265753.13/ ENSP00000265753.8
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-87                AC005057.2         19064-19150         c
            88-275              AC005057.2         5708-5895           c
            276-340             AC005057.2         3769-3833           c
            341-437             AC005057.2         3588-3684           c
            438-497             AC005057.2         3200-3259           c
            498-635             AC005081.3         178718-178855       c
            636-2563            AC005081.3         176500-178427       c
FEATURES             Location/Qualifiers
     source          1..2563
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.23"
     gene            1..2563
                     /gene="EIF4H"
                     /gene_synonym="eIF-4H; WBSCR1; WSCR1"
                     /note="eukaryotic translation initiation factor 4H"
                     /db_xref="GeneID:7458"
                     /db_xref="HGNC:HGNC:12741"
                     /db_xref="MIM:603431"
     exon            1..87
                     /gene="EIF4H"
                     /gene_synonym="eIF-4H; WBSCR1; WSCR1"
                     /inference="alignment:Splign:2.1.0"
     CDS             29..775
                     /gene="EIF4H"
                     /gene_synonym="eIF-4H; WBSCR1; WSCR1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     Williams-Beuren syndrome chromosome region 1"
                     /codon_start=1
                     /product="eukaryotic translation initiation factor 4H
                     isoform 1"
                     /protein_id="NP_071496.1"
                     /db_xref="CCDS:CCDS5564.1"
                     /db_xref="GeneID:7458"
                     /db_xref="HGNC:HGNC:12741"
                     /db_xref="MIM:603431"
                     /translation="MADFDTYDDRAYSSFGGGRGSRGSAGGHGSRSQKELPTEPPYTA
                     YVGNLPFNTVQGDIDAIFKDLSIRSVRLVRDKDTDKFKGFCYVEFDEVDSLKEALTYD
                     GALLGDRSLRVDIAEGRKQDKGGFGFRKGGPDDRGMGSSRESRGGWDSRDDFNSGFRD
                     DFLGGRGGSRPGDRRTGPPMGSRFRDGPPLRGSNMDFREPTEEERAQRPRLQLKPRTV
                     ATPLNQVANPNSAIFGGARPREEVVQKEQE"
     exon            88..275
                     /gene="EIF4H"
                     /gene_synonym="eIF-4H; WBSCR1; WSCR1"
                     /inference="alignment:Splign:2.1.0"
     exon            276..340
                     /gene="EIF4H"
                     /gene_synonym="eIF-4H; WBSCR1; WSCR1"
                     /inference="alignment:Splign:2.1.0"
     exon            341..437
                     /gene="EIF4H"
                     /gene_synonym="eIF-4H; WBSCR1; WSCR1"
                     /inference="alignment:Splign:2.1.0"
     exon            438..497
                     /gene="EIF4H"
                     /gene_synonym="eIF-4H; WBSCR1; WSCR1"
                     /inference="alignment:Splign:2.1.0"
     exon            498..635
                     /gene="EIF4H"
                     /gene_synonym="eIF-4H; WBSCR1; WSCR1"
                     /inference="alignment:Splign:2.1.0"
     exon            636..2563
                     /gene="EIF4H"
                     /gene_synonym="eIF-4H; WBSCR1; WSCR1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2545..2550
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EIF4H"
                     /gene_synonym="eIF-4H; WBSCR1; WSCR1"
                     /note="hexamer: AAGAAA"
     polyA_site      2563
                     /gene="EIF4H"
                     /gene_synonym="eIF-4H; WBSCR1; WSCR1"
                     /note="major polyA site"
ORIGIN      
        1 ctggttcctc tcggagcgga gacggcaaat ggcggacttc gacacctacg acgatcgggc
       61 ctacagcagc ttcggcggcg gcagagggtc ccgcggcagt gctggtggcc atggttcccg
      121 tagccagaag gagttgccca cagagccccc ctacacagca tacgtaggaa atctaccttt
      181 caatacggtt cagggcgaca tagatgctat ctttaaggat ctcagcataa ggagtgtacg
      241 gctagtcaga gacaaagaca cagataaatt taaaggattc tgctatgtag aattcgatga
      301 agtggattcc cttaaggaag ccttgacata cgatggtgca ctgttgggcg atcggtcact
      361 tcgtgtggac attgcagaag gcagaaaaca agataaaggt ggctttggat tcagaaaagg
      421 tggaccagat gacagaggaa tgggtagctc tcgagaatct agaggtggat gggattcccg
      481 ggatgacttc aattctggct tcagggatga cttcttaggg ggcaggggag gtagtcgccc
      541 aggcgaccgg cgaacaggcc cccccatggg cagccgcttc agagatggcc ctcccctccg
      601 tggatccaac atggatttca gagaacccac agaagaggaa agagcacaga gaccacgact
      661 ccagcttaaa cctcgaacag tcgcgacgcc cctcaatcaa gtagccaatc ccaactctgc
      721 tatcttcggg ggtgccaggc ctagagagga agtcgttcaa aaggagcaag aatgagcctg
      781 cggttgggag ggaatggggc gtggggggtt agagcaggac cacagcctgg tgagtccccg
      841 ggcagccgtc ctgcagccgc cactcctgcg cctgccattg gcctcctcac agcggaaaca
      901 cagcttgtga gtgcatgtca gctgttaaca agtggttttt agtacattct gggctttgct
      961 gtatctatct agtgcctgtt tgtgcgtttt tttctttctt ccgctgcttc cccattttcc
     1021 ttctgtcctt tttctcctgc tccttgtttt cccagcagca catggggttc ctcggaggag
     1081 cagaggtggc cgccgtgggg gggcgtttgg gctgcggtgc tgcgtcattt ttcctttgct
     1141 ttctctttac tttagacact ggcccaactc caggcgtttc ctttcattcc ctcagtgctt
     1201 ctcttctgac ctgcatgttg agttctgtat tgctggggct tccaacaaaa accagagtca
     1261 ctgacagagg gaacagcaga gaccttgttg gtattcagct gtgatggata tagagaatca
     1321 gaggcacctt gttttcacaa ctaggataaa aatatctgca gggtcctttc cattcctatt
     1381 tagagggagt cctggctcca tgaccccctc ccgagtggac tgtccaagca gataggctca
     1441 cacgagaaac agtgaggctg aaaggggggg ctatggaaga gcggtaggga gtccacggag
     1501 aagatgcagt gaatgcttgc atgcattcac acgtgtgtgt gtcccagcta gttcactcct
     1561 ttcgccgtgc gtggtggagg ctggcctctc tggctgggtg cagtgaatgg ccagcgggtt
     1621 tcttttctgc tgggccaagg cgctttgggg gtggaggggg tggtgctggt gctgcactgg
     1681 gctgactgcg gcgctgacgc agcgtttccc cccatccctg ttgcctgtgt gttgtgtgga
     1741 tctgttccta gtataggcaa cataatgaga tactgtgctt cccacctccc cttcagttca
     1801 gagccaaaat gggtctagaa tctggcactt tactcatttc ctttgataaa ttgtactatg
     1861 cagagctgtc aggaaccttc agatagcagt agaggactgc agctgtctag gtctgcggcc
     1921 acatcttggg gacacactgg actgttccca tgtgcagggt tcagcagtta tgtgggagtg
     1981 ctaggggtta ggcttttgag cttgaacgcc tgcgtgtgaa cagatgaaaa atccttcagt
     2041 acccaagtcc cagtctgtcc tatggggagc agtttggggg cggccggcag caggagcctg
     2101 ggaaagaggc cctcgccagg tgatggcagg gccagggtgg cctggggcac ccagcggaat
     2161 gtgcttagta tttggtcacc agccgtcatc ctgggctttt cctactgtgt cttgttacaa
     2221 ggcctcagca atccacagaa ctctctctcc ttccttccac ctgtcagctt ctctgcttct
     2281 gagataagaa ccatttgtgt aacaccaaca cttaacttca gaaagacatg cattatgtgg
     2341 tgtaatcaaa cccgatgctt tcagatgacc tacttacatc ttcaatgtgg ataagataaa
     2401 gaacaaaaca catgcatcta aactgctggg caatccagtt gacttttaaa tgtaagaatg
     2461 gaattccaaa cacttaacac attcagctat atgacagaaa gtaaatctat ggatatggta
     2521 ttttgtgaat gatcttttaa ataaaagaaa accttacgta ata
//
