SMG9_MOUSE
ID SMG9_MOUSE Reviewed; 520 AA.
AC Q9DB90; Q3TTB9; Q8BYJ3;
DT 29-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 134.
DE RecName: Full=Nonsense-mediated mRNA decay factor SMG9 {ECO:0000312|MGI:MGI:1919247};
GN Name=Smg9 {ECO:0000312|MGI:MGI:1919247};
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC STRAIN=C57BL/6J, and NOD;
RC TISSUE=Cerebellum, Hippocampus, Spinal cord, Testis, and Thymus;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC STRAIN=FVB/N; TISSUE=Colon;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-32 AND SER-451, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Brown adipose tissue, Heart, Kidney, Lung, Spleen, and Testis;
RX PubMed=21183079; DOI=10.1016/j.cell.2010.12.001;
RA Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R.,
RA Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.;
RT "A tissue-specific atlas of mouse protein phosphorylation and expression.";
RL Cell 143:1174-1189(2010).
RN [4]
RP FUNCTION, AND DISRUPTION PHENOTYPE.
RX PubMed=27018474; DOI=10.1016/j.ajhg.2016.02.010;
RA Shaheen R., Anazi S., Ben-Omran T., Seidahmed M.Z., Caddle L.B., Palmer K.,
RA Ali R., Alshidi T., Hagos S., Goodwin L., Hashem M., Wakil S.M.,
RA Abouelhoda M., Colak D., Murray S.A., Alkuraya F.S.;
RT "Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated
RT Decay Machinery, Cause a multiple congenital anomaly syndrome in humans and
RT mice.";
RL Am. J. Hum. Genet. 98:643-652(2016).
CC -!- FUNCTION: Involved in nonsense-mediated decay (NMD) of mRNAs containing
CC premature stop codons. Is recruited by release factors to stalled
CC ribosomes together with SMG1 and SMG8 (forming the SMG1C protein kinase
CC complex) and, in the SMG1C complex, is required for the efficient
CC association between SMG1 and SMG8 (By similarity). Plays a role in
CC brain, heart, and eye development (PubMed:27018474).
CC {ECO:0000250|UniProtKB:Q9H0W8, ECO:0000269|PubMed:27018474}.
CC -!- SUBUNIT: Self-associates to form homodimers and forms heterodimers with
CC SMG8; these assembly forms may represent SMG1C intermediate forms (By
CC similarity). Component of the SMG1C complex composed of SMG1, SMG8 and
CC SMG9 (By similarity). Interacts with DHX34; the interaction is RNA-
CC independent (By similarity). {ECO:0000250|UniProtKB:Q9H0W8}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9DB90-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9DB90-2; Sequence=VSP_025947;
CC -!- PTM: Phosphorylated by SMG1. {ECO:0000250|UniProtKB:Q9H0W8}.
CC -!- DISRUPTION PHENOTYPE: Embryonic lethal. Homozygous null embryos show a
CC range of abnormalities, including edema, hemorrhage, exencephaly,
CC preaxial polydactyly, decreased size of the mid- and hindbrains,
CC microphthalmia, thin myocardium, and cardiac septal defects. These
CC phenotypes are variable among mutant embryos; there is evidence of
CC incomplete penetrance, but most embryos show clear phenotypic
CC abnormalities. {ECO:0000269|PubMed:27018474}.
CC -!- SIMILARITY: Belongs to the SMG9 family. {ECO:0000305}.
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DR EMBL; AK005126; BAB23829.1; -; mRNA.
DR EMBL; AK039368; BAC30328.1; -; mRNA.
DR EMBL; AK141576; BAE24745.1; -; mRNA.
DR EMBL; AK161454; BAE36406.1; -; mRNA.
DR EMBL; AK169651; BAE41275.1; -; mRNA.
DR EMBL; BC034211; AAH34211.1; -; mRNA.
DR CCDS; CCDS20949.1; -. [Q9DB90-1]
DR RefSeq; NP_082323.1; NM_028047.2. [Q9DB90-1]
DR RefSeq; XP_006540440.1; XM_006540377.1. [Q9DB90-1]
DR AlphaFoldDB; Q9DB90; -.
DR SMR; Q9DB90; -.
DR BioGRID; 215084; 1.
DR STRING; 10090.ENSMUSP00000002280; -.
DR iPTMnet; Q9DB90; -.
DR PhosphoSitePlus; Q9DB90; -.
DR EPD; Q9DB90; -.
DR jPOST; Q9DB90; -.
DR MaxQB; Q9DB90; -.
DR PaxDb; Q9DB90; -.
DR PeptideAtlas; Q9DB90; -.
DR PRIDE; Q9DB90; -.
DR ProteomicsDB; 261263; -. [Q9DB90-1]
DR ProteomicsDB; 261264; -. [Q9DB90-2]
DR Antibodypedia; 31101; 65 antibodies from 20 providers.
DR Ensembl; ENSMUST00000002280; ENSMUSP00000002280; ENSMUSG00000002210. [Q9DB90-1]
DR GeneID; 71997; -.
DR KEGG; mmu:71997; -.
DR UCSC; uc009fpm.1; mouse. [Q9DB90-2]
DR UCSC; uc009fpn.1; mouse. [Q9DB90-1]
DR CTD; 56006; -.
DR MGI; MGI:1919247; Smg9.
DR VEuPathDB; HostDB:ENSMUSG00000002210; -.
DR eggNOG; KOG4181; Eukaryota.
DR GeneTree; ENSGT00390000003568; -.
DR HOGENOM; CLU_037795_0_0_1; -.
DR InParanoid; Q9DB90; -.
DR OMA; FRTQSQE; -.
DR OrthoDB; 1436399at2759; -.
DR PhylomeDB; Q9DB90; -.
DR TreeFam; TF319763; -.
DR Reactome; R-MMU-975957; Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC).
DR BioGRID-ORCS; 71997; 15 hits in 78 CRISPR screens.
DR PRO; PR:Q9DB90; -.
DR Proteomes; UP000000589; Chromosome 7.
DR RNAct; Q9DB90; protein.
DR Bgee; ENSMUSG00000002210; Expressed in granulocyte and 205 other tissues.
DR ExpressionAtlas; Q9DB90; baseline and differential.
DR Genevisible; Q9DB90; MM.
DR GO; GO:0042802; F:identical protein binding; ISO:MGI.
DR GO; GO:0007420; P:brain development; IMP:UniProtKB.
DR GO; GO:0001654; P:eye development; IMP:UniProtKB.
DR GO; GO:0007507; P:heart development; IMP:UniProtKB.
DR GO; GO:0001701; P:in utero embryonic development; IMP:MGI.
DR GO; GO:0000184; P:nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; ISS:UniProtKB.
DR Gene3D; 3.40.50.300; -; 1.
DR InterPro; IPR027417; P-loop_NTPase.
DR InterPro; IPR019354; SMG8/SMG9.
DR InterPro; IPR039177; SMG9.
DR PANTHER; PTHR14270; PTHR14270; 1.
DR Pfam; PF10220; Smg8_Smg9; 1.
PE 1: Evidence at protein level;
KW Acetylation; Alternative splicing; Nonsense-mediated mRNA decay;
KW Phosphoprotein; Reference proteome.
FT INIT_MET 1
FT /note="Removed"
FT /evidence="ECO:0000250|UniProtKB:Q9H0W8"
FT CHAIN 2..520
FT /note="Nonsense-mediated mRNA decay factor SMG9"
FT /id="PRO_0000289164"
FT REGION 1..143
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 40..56
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 74..96
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 2
FT /note="N-acetylserine"
FT /evidence="ECO:0000250|UniProtKB:Q9H0W8"
FT MOD_RES 2
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9H0W8"
FT MOD_RES 4
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9H0W8"
FT MOD_RES 7
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9H0W8"
FT MOD_RES 32
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21183079"
FT MOD_RES 53
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9H0W8"
FT MOD_RES 451
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21183079"
FT VAR_SEQ 235..520
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_025947"
FT CONFLICT 492
FT /note="E -> G (in Ref. 1; BAC30328)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 520 AA; 57621 MW; 98947051F376BB34 CRC64;
MSESGHSQPG LYGIERRRRW KEPGSSGPQN LSGPGGRERD YIAPWERERR DGSEDPSTNV
MQKTPIILSK PPAERSKQPP PSTAPAAPPA PAPLEKPIVL MKPREEGKGP VAGTGASTPE
GTAPPPPTAP APPKGEKEGQ RPTQPVYQIQ NRGMGTAAPT AMDPVVGQAK LLPPERMKHS
IKLVDDQMNW CDSAIEYLLD QTDVLVVGVL GLQGTGKSMV MSLLSANTPE EDQRAYVFRA
QSAEMKERGG NQTSGIDFFI TQERIVFLDT QPILSPSILD HLINNDRKLP PEYNLPHTYV
EMQSLQIAAF LFTVCHVVIV VQDWFTDLSL YRFLQTAEMV KPSTPSPSHE SSSSAGSDEG
TEYYPHLVFL QNKARREDFC PRKLRQMHLM IDQLMAHSHL RYKGTLSMLQ CNVFPGLPPD
FLDAEVNLFL VPFMDSEAEN ENPPRAGPGS SPLFSLLPGY RGHPSFQSLV SKLRSQVMSM
ARPQLSHTIL TEKNWFHYAA RIWDGVKKSS ALAEYSRLLA
