LOCUS       NM_018149               3221 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens SMG8 nonsense mediated mRNA decay factor (SMG8), mRNA.
ACCESSION   NM_018149
VERSION     NM_018149.7
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 3221)
  AUTHORS   Abdel-Salam,G.M.H., Duan,R., Abdel-Hamid,M.S., Sayed,I.S.M.,
            Jhangiani,S.N., Khan,Z., Du,H., Gibbs,R.A., Posey,J.E., Marafi,D.
            and Lupski,J.R.
  TITLE     Expanding the phenotypic and allelic spectrum of SMG8: Clinical
            observations reveal overlap with SMG9-associated disease trait
  JOURNAL   Am J Med Genet A 188 (2), 648-657 (2022)
   PUBMED   34761517
  REMARK    GeneRIF: Expanding the phenotypic and allelic spectrum of SMG8:
            Clinical observations reveal overlap with SMG9-associated disease
            trait.
REFERENCE   2  (bases 1 to 3221)
  AUTHORS   Alzahrani,F., Kuwahara,H., Long,Y., Al-Owain,M., Tohary,M.,
            AlSayed,M., Mahnashi,M., Fathi,L., Alnemer,M., Al-Hamed,M.H.,
            Lemire,G., Boycott,K.M., Hashem,M., Han,W., Al-Maawali,A., Al
            Mahrizi,F., Al-Thihli,K., Gao,X. and Alkuraya,F.S.
  TITLE     Recessive, Deleterious Variants in SMG8 Expand the Role of
            Nonsense-Mediated Decay in Developmental Disorders in Humans
  JOURNAL   Am J Hum Genet 107 (6), 1178-1185 (2020)
   PUBMED   33242396
  REMARK    GeneRIF: Recessive, Deleterious Variants in SMG8 Expand the Role of
            Nonsense-Mediated Decay in Developmental Disorders in Humans.
REFERENCE   3  (bases 1 to 3221)
  AUTHORS   Lopez-Perrote,A., Hug,N., Gonzalez-Corpas,A., Rodriguez,C.F.,
            Serna,M., Garcia-Martin,C., Boskovic,J., Fernandez-Leiro,R.,
            Caceres,J.F. and Llorca,O.
  TITLE     Regulation of RUVBL1-RUVBL2 AAA-ATPases by the nonsense-mediated
            mRNA decay factor DHX34, as evidenced by Cryo-EM
  JOURNAL   Elife 9, e63042 (2020)
   PUBMED   33205750
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3221)
  AUTHORS   Langer,L.M., Gat,Y., Bonneau,F. and Conti,E.
  TITLE     Structure of substrate-bound SMG1-8-9 kinase complex reveals
            molecular basis for phosphorylation specificity
  JOURNAL   Elife 9, e57127 (2020)
   PUBMED   32469312
  REMARK    GeneRIF: Structure of substrate-bound SMG1-8-9 kinase complex
            reveals molecular basis for phosphorylation specificity.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3221)
  AUTHORS   Gat,Y., Schuller,J.M., Lingaraju,M., Weyher,E., Bonneau,F.,
            Strauss,M., Murray,P.J. and Conti,E.
  TITLE     InsP6 binding to PIKK kinases revealed by the cryo-EM structure of
            an SMG1-SMG8-SMG9 complex
  JOURNAL   Nat Struct Mol Biol 26 (12), 1089-1093 (2019)
   PUBMED   31792449
  REMARK    GeneRIF: This study reports the 3.45-A resolution cryo-EM structure
            of human SMG1-SMG8-SMG9, a phosphatidylinositol-3-kinase
            (PI(3)K)-related protein kinase (PIKK) complex central to messenger
            RNA surveillance.
REFERENCE   6  (bases 1 to 3221)
  AUTHORS   Usuki,F., Yamashita,A., Shiraishi,T., Shiga,A., Onodera,O.,
            Higuchi,I. and Ohno,S.
  TITLE     Inhibition of SMG-8, a subunit of SMG-1 kinase, ameliorates
            nonsense-mediated mRNA decay-exacerbated mutant phenotypes without
            cytotoxicity
  JOURNAL   Proc Natl Acad Sci U S A 110 (37), 15037-15042 (2013)
   PUBMED   23983263
  REMARK    GeneRIF: knockdown of SMG-8 produced the best effect for restoring
            defective mRNA and protein levels without affecting cell growth,
            cell-cycle progression, or endoplasmic reticulum stress in Ullrich
            congenital muscular dystrophy fibroblasts
REFERENCE   7  (bases 1 to 3221)
  AUTHORS   Reiner,A.P., Hartiala,J., Zeller,T., Bis,J.C., Dupuis,J.,
            Fornage,M., Baumert,J., Kleber,M.E., Wild,P.S., Baldus,S.,
            Bielinski,S.J., Fontes,J.D., Illig,T., Keating,B.J., Lange,L.A.,
            Ojeda,F., Muller-Nurasyid,M., Munzel,T.F., Psaty,B.M., Rice,K.,
            Rotter,J.I., Schnabel,R.B., Tang,W.H., Thorand,B., Erdmann,J.,
            Jacobs,D.R. Jr., Wilson,J.G., Koenig,W., Tracy,R.P.,
            Blankenberg,S., Marz,W., Gross,M.D., Benjamin,E.J., Hazen,S.L. and
            Allayee,H.
  CONSRTM   CARDIoGRAM Consortium
  TITLE     Genome-wide and gene-centric analyses of circulating
            myeloperoxidase levels in the charge and care consortia
  JOURNAL   Hum Mol Genet 22 (16), 3381-3393 (2013)
   PUBMED   23620142
REFERENCE   8  (bases 1 to 3221)
  AUTHORS   Arias-Palomo,E., Yamashita,A., Fernandez,I.S., Nunez-Ramirez,R.,
            Bamba,Y., Izumi,N., Ohno,S. and Llorca,O.
  TITLE     The nonsense-mediated mRNA decay SMG-1 kinase is regulated by
            large-scale conformational changes controlled by SMG-8
  JOURNAL   Genes Dev 25 (2), 153-164 (2011)
   PUBMED   21245168
  REMARK    GeneRIF: large-scale conformational changes induced by SMG-8 after
            SMG-9-mediated recruitment tune SMG-1 kinase activity to modulate
            nonsense-mediated mRNA decay
REFERENCE   9  (bases 1 to 3221)
  AUTHORS   Fernandez,I.S., Yamashita,A., Arias-Palomo,E., Bamba,Y.,
            Bartolome,R.A., Canales,M.A., Teixido,J., Ohno,S. and Llorca,O.
  TITLE     Characterization of SMG-9, an essential component of the
            nonsense-mediated mRNA decay SMG1C complex
  JOURNAL   Nucleic Acids Res 39 (1), 347-358 (2011)
   PUBMED   20817927
REFERENCE   10 (bases 1 to 3221)
  AUTHORS   Yamashita,A., Izumi,N., Kashima,I., Ohnishi,T., Saari,B.,
            Katsuhata,Y., Muramatsu,R., Morita,T., Iwamatsu,A., Hachiya,T.,
            Kurata,R., Hirano,H., Anderson,P. and Ohno,S.
  TITLE     SMG-8 and SMG-9, two novel subunits of the SMG-1 complex, regulate
            remodeling of the mRNA surveillance complex during
            nonsense-mediated mRNA decay
  JOURNAL   Genes Dev 23 (9), 1091-1105 (2009)
   PUBMED   19417104
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AF349467.1 and AL834490.1.
            
            On Aug 14, 2020 this sequence version replaced NM_018149.6.
            
            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 :: AL834490.1, AK026858.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000300917.10/ ENSP00000300917.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-946               AF349467.1         26-971
            947-3221            AL834490.1         951-3225
FEATURES             Location/Qualifiers
     source          1..3221
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q22"
     gene            1..3221
                     /gene="SMG8"
                     /gene_synonym="ALKUS; C17orf71"
                     /note="SMG8 nonsense mediated mRNA decay factor"
                     /db_xref="GeneID:55181"
                     /db_xref="HGNC:HGNC:25551"
                     /db_xref="MIM:613175"
     exon            1..1776
                     /gene="SMG8"
                     /gene_synonym="ALKUS; C17orf71"
                     /inference="alignment:Splign:2.1.0"
     CDS             18..2993
                     /gene="SMG8"
                     /gene_synonym="ALKUS; C17orf71"
                     /note="protein SMG8; protein smg-8 homolog; amplified in
                     breast cancer gene 2 protein; smg-8 homolog, nonsense
                     mediated mRNA decay factor"
                     /codon_start=1
                     /product="nonsense-mediated mRNA decay factor SMG8"
                     /protein_id="NP_060619.4"
                     /db_xref="CCDS:CCDS11615.1"
                     /db_xref="GeneID:55181"
                     /db_xref="HGNC:HGNC:25551"
                     /db_xref="MIM:613175"
                     /translation="MAGPVSLRDLLMGASAWMGSESPGGSPTEGGGSAAGGPEPPWRE
                     DEICVVGIFGKTALRLNSEKFSLVNTVCDRQVFPLFRHQDPGDPGPGIRTEAGAVGEA
                     GGAEDPGAAAGGSVRGSGAVAEGNRTEAGSQDYSLLQAYYSQESKVLYLLLTSICDNS
                     QLLRACRALQSGEAGGGLSLPHAEAHEFWKHQEKLQCLSLLYLFSVCHILLLVHPTCS
                     FDITYDRVFRALDGLRQKVLPLLKTAIKDCPVGKDWKLNCRPCPPRLLFLFQLNGALK
                     VEPPRNQDPAHPDKPKKHSPKRRLQHALEDQIYRIFRKSRVLTNQSINCLFTVPANQA
                     FVYIVPGSQEEDPVGMLLDQLRSHCTVKDPESLLVPAPLSGPRRYQVMRQHSRQQLSF
                     HIDSSSSSSSGQLVDFTLREFLWQHVELVLSKKGFDDSVGRNPQPSHFELPTYQKWIS
                     AASKLYEVAIDGKEEDLGSPTGELTSKILSSIKVLEGFLDIDTKFSENRCQKALPMAH
                     SAYQSNLPHNYTMTVHKNQLAQALRVYSQHARGPAFHKYAMQLHEDCYKFWSNGHQLC
                     EERSLTDQHCVHKFHSLPKSGEKPEADRNPPVLYHNSRARSTGACNCGRKQAPRDDPF
                     DIKAANYDFYQLLEEKCCGKLDHINFPVFEPSTPDPAPAKNESSPAPPDSDADKLKEK
                     EPQTQGESTSLSLALSLGQSTDSLGTYPADPQAGGDNPEVHGQVEVKTEKRPNFVDRQ
                     ASTVEYLPGMLHSNCPKGLLPKFSSWSLVKLGPAKSYNFHTGLDQQGFIPGTNYLMPW
                     DIVIRTRAEDEGDLDTNSWPAPNKAIPGKRSAVVMGRGRRRDDIARAFVGFEYEDSRG
                     RRFMCSGPDKVMKVMGSGPKESALKALNSDMPLYILSSSQGRGLKPHYAQLMRLFVVV
                     PDAPLQIILMPQVQPGPPPCPVFYPEKQEITLPPDGLWVLRFPYAYVTERGPCFPPKE
                     NVQLMSYKVLRGVLKAVTQ"
     exon            1777..1922
                     /gene="SMG8"
                     /gene_synonym="ALKUS; C17orf71"
                     /inference="alignment:Splign:2.1.0"
     exon            1923..2795
                     /gene="SMG8"
                     /gene_synonym="ALKUS; C17orf71"
                     /inference="alignment:Splign:2.1.0"
     exon            2796..3221
                     /gene="SMG8"
                     /gene_synonym="ALKUS; C17orf71"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3194..3199
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMG8"
                     /gene_synonym="ALKUS; C17orf71"
                     /note="hexamer: AATAAA"
     polyA_site      3221
                     /gene="SMG8"
                     /gene_synonym="ALKUS; C17orf71"
                     /note="major polyA site"
ORIGIN      
        1 agagaacgct ctgcactatg gctggtcccg tgagcttgcg agaccttcta atgggagcat
       61 cagcctggat gggctctgaa agtcccggag ggtcccctac tgagggcgga gggagcgcgg
      121 ctggcggacc ggagcctcca tggcgggagg atgagatctg cgttgtggga atcttcggca
      181 agacggctct acgcctgaat tccgagaagt tctctcttgt gaatacggtg tgcgaccgac
      241 aggtctttcc tctctttcgc caccaagatc ctggggatcc aggacctgga atcagaactg
      301 aggctggcgc cgtgggtgag gccggtggag ccgaggaccc tggggctgca gccgggggtt
      361 cagttcgggg aagtggagct gtcgcggaag gtaaccgaac tgaggcaggc tcccaggact
      421 acagccttct gcaggcctac tacagtcagg aaagcaaagt tctgtatctt ctcctcacct
      481 ccatctgtga caattcacag cttctccggg cttgtcgggc tcttcagagc ggggaagctg
      541 gaggtggact ctctttacct catgcagaag cacacgagtt ctggaagcat caagagaagc
      601 tgcagtgcct cagtctcctt tacctattct ctgtctgtca tatcttgctt ctggtccatc
      661 ccacttgttc ctttgatatc acttatgatc gagtattcag agccctggat gggctgagac
      721 agaaggtcct gccgctcctt aaaacagcca ttaaggattg tccagttggc aaagactgga
      781 agctaaactg ccgaccttgc ccacctagac tccttttcct ctttcaactc aatggagccc
      841 tcaaggtaga acctcctcgg aaccaagacc cagctcatcc agacaagccc aagaaacatt
      901 ctcccaaaag gaggctgcag catgccctgg aggaccagat ctatagaatc ttccggaaga
      961 gtcgtgtctt gactaatcag agcatcaact gcctctttac tgtgcctgcc aaccaagctt
     1021 tcgtgtacat agtaccggga agccaggagg aggacccagt aggtatgttg ctggaccaac
     1081 ttaggagtca ttgtactgtg aaggacccgg aatctttgct ggtgcctgca cccctttctg
     1141 ggcctaggcg ataccaggtg atgaggcagc acagccgaca acaactttcc tttcacattg
     1201 acagcagcag ttccagttct tcaggccagc tagtggattt cactcttcgg gaattcctat
     1261 ggcagcatgt ggagctagtt ctaagcaaga aaggtttcga tgacagtgtg ggcaggaacc
     1321 cacagccttc ccattttgaa cttcctactt atcagaagtg gatctcagca gcttcaaaac
     1381 tgtatgaggt ggctattgat gggaaagaag aggacttggg gtcacccact ggagagctaa
     1441 catctaagat tttaagcagt attaaagtct tggaaggatt tttggatatt gacacaaaat
     1501 tctcagaaaa ccgatgccaa aaagctttac ccatggccca cagtgcctac cagtcaaatt
     1561 tgcctcataa ttacacaatg actgtccata agaatcagct tgcccaggct cttcgagtgt
     1621 acagtcaaca tgctagaggt ccagcatttc acaaatacgc catgcagtta catgaggact
     1681 gctacaaatt ttggagcaat ggccatcagc tctgtgagga gaggagttta actgatcaac
     1741 actgtgtgca caaatttcac tcattaccta aatcaggaga aaaaccagag gctgatagaa
     1801 atccgcctgt gctatatcac aatagccgag ctcgatctac tggtgcttgc aactgtggaa
     1861 ggaaacaagc acctcgagat gatccctttg atatcaaagc agccaattat gacttctatc
     1921 agcttctgga agaaaagtgt tgtggaaaat tggatcatat caatttccca gtatttgaac
     1981 caagtactcc agatcctgct cctgctaaaa atgaatcctc tcctgctcct ccagattcgg
     2041 atgctgataa acttaaagaa aaagaacctc aaacccaagg agagagcacg agcctgagtt
     2101 tagctttgag tttgggccaa tccacagata gcttaggtac ctatccagct gatccacaag
     2161 caggaggaga taatccagaa gttcatggtc aagtagaagt gaaaactgag aagaggccaa
     2221 acttcgttga tcgacaggca tccacagttg agtatctccc aggcatgcta cattcaaatt
     2281 gccctaaagg tctcctaccc aaattctcca gctggtcttt ggttaaacta ggccctgcta
     2341 agtcttataa ctttcataca ggtttggacc aacagggctt tattccagga acaaattatc
     2401 ttatgccttg ggacattgtc atcaggacta gagctgaaga tgaaggagac ttagacacaa
     2461 actcttggcc tgctccaaat aaagctattc ctggaaagag aagtgcggtt gtaatgggaa
     2521 gaggaagacg gcgagatgac atagctcgag cttttgtggg ctttgaatat gaagactctc
     2581 gaggtcggag attcatgtgc tctgggcctg acaaagtaat gaaagtaatg ggaagtgggc
     2641 caaaggaatc agctttaaaa gccctaaata gtgacatgcc cttatatatt ctgtcatcct
     2701 ctcaaggtag agggctgaaa cctcattatg ctcaacttat gaggcttttt gttgtggttc
     2761 ctgatgctcc tttgcagata atactaatgc ctcaggttca gccaggccca ccaccatgtc
     2821 cggtattcta cccagaaaaa caagaaatca cccttccacc tgatggcctt tgggttttga
     2881 gatttcctta tgcatatgtg actgagagag gaccttgttt cccccctaag gaaaatgtgc
     2941 agttaatgag ctacaaggtg ctccgtgggg ttcttaaggc agtaacacaa taagtgtttt
     3001 ccagccagtt caatcctata cttgagctgg tttttgtttt tggtatttgt ggctgtgttt
     3061 ttggtatgtg tttactgtgt tttcccaaat ccaaaatgtg ttttggttac aggagttcag
     3121 tatttggaaa ctaatttgtt ctactttttc attatattgt tgatatttat tgtaaacgtg
     3181 actacaactt tctaataaag attggttgtt ctagaaaaga a
//
