Q8ND04 (SMG8_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
April 3, 2013.
Version 75.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Protein SMG8 Alternative name(s): Amplified in breast cancer gene 2 protein Protein smg-8 homolog | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 991 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons. Is recruited by release factors to stalled ribosomes together with SMG1 and SMG9 (forming the SMG1C protein kinase complex) and, in the SMG1C complex, is required to mediate the recruitment of SMG1 to the ribosome:SURF complex and to suppress SMG1 kinase activity until the ribosome:SURF complex locates the exon junction complex (EJC). Acts as a regulator of kinase activity. Ref.8 |
| Subunit structure | Component of the SMG1C complex composed of SMG1, SMG8 and SMG9; the recruitment of SMG8 to SMG1 N-terminus induces a large conformational change in the SMG1 C-terminal head domain containing the catalytic domain. Forms heterodimers with SMG9; this assembly form may represent a SMG1C intermediate form. Ref.8 Ref.12 |
| Post-translational modification | Phosphorylated by SMG1. Ref.8 |
| Sequence similarities | Belongs to the SMG8 family. |
| Sequence caution | The sequence AAH20957.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAA91699.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Nonsense-mediated mRNA decay |
| Coding sequence diversity | Alternative splicing Polymorphism |
| PTM | Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | gene expression Traceable author statement. Source: Reactome nuclear-transcribed mRNA catabolic process, nonsense-mediated decayInferred from mutant phenotype Ref.8. Source: UniProtKB regulation of protein kinase activityInferred from mutant phenotype Ref.8. Source: UniProtKB |
| Cellular_component | cytosol Traceable author statement. Source: Reactome |
| Complete GO annotation... | |
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| SMG9 | Q9H0W8 | 4 | EBI-3903643,EBI-2872322 |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q8ND04-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q8ND04-2) Also known as: ABC2; The sequence of this isoform differs from the canonical sequence as follows: 945-945: T → TLPPDGLWVLRFPYAYGLREDLVSPXGKKQEIP | ||||||
| Isoform 3 (identifier: Q8ND04-3) The sequence of this isoform differs from the canonical sequence as follows: 588-588: E → S 589-991: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 991 | 991 | Protein SMG8 | PRO_0000304974 | |||||
Amino acid modifications | |||||||||
| Modified residue | 469 | 1 | Phosphoserine Ref.7 | ||||||
| Modified residue | 668 | 1 | Phosphoserine Ref.13 | ||||||
Natural variations | |||||||||
| Alternative sequence | 588 | 1 | E → S in isoform 3. | VSP_028164 | |||||
| Alternative sequence | 589 – 991 | 403 | Missing in isoform 3. | VSP_028165 | |||||
| Alternative sequence | 945 | 1 | T → TLPPDGLWVLRFPYAYGLRE DLVSPXGKKQEIP in isoform 2. | VSP_028166 | |||||
| Natural variant | 280 | 1 | P → L. Corresponds to variant rs8068240 [ dbSNP | Ensembl ]. | VAR_035137 | |||||
Experimental info | |||||||||
| Sequence conflict | 278 | 1 | E → V in BAB15576. Ref.2 | ||||||
| Sequence conflict | 411 | 1 | R → W in BAB15576. Ref.2 | ||||||
| Sequence conflict | 488 | 1 | F → L in AAL83913. Ref.1 | ||||||
| Sequence conflict | 491 | 1 | I → F in AAL83913. Ref.1 | ||||||
| Sequence conflict | 493 | 1 | T → P in AAL83913. Ref.1 | ||||||
| Sequence conflict | 520 | 1 | T → P in AAL83913. Ref.1 | ||||||
| Sequence conflict | 522 | 1 | T → P in AAL83913. Ref.1 | ||||||
| Sequence conflict | 532 | 1 | L → R in AAL83913. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Cloning and characterization of three novel amplified and overexpressed genes from breast cancer." Wu G.G., Couch F.J. Submitted (FEB-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2). |
| [2] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Adipose tissue. |
| [3] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Testis. |
| [4] | "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage." Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. Nusbaum C.Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 265-991 (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 5-991 (ISOFORM 3). Tissue: Brain and Colon. |
| [7] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-469, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [8] | "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." 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., Ohno S. Genes Dev. 23:1091-1105(2009) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, PHOSPHORYLATION, IDENTIFICATION BY MASS SPECTROMETRY, IDENTIFICATION IN THE SMG1C COMPLEX. |
| [9] | "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma. |
| [10] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| [11] | "The nonsense-mediated mRNA decay SMG-1 kinase is regulated by large-scale conformational changes controlled by SMG-8." Arias-Palomo E., Yamashita A., Fernandez I.S., Nunez-Ramirez R., Bamba Y., Izumi N., Ohno S., Llorca O. Genes Dev. 25:153-164(2011) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH SMG1 AND SMG9, ELECTRON MICROSCOPY OF THE SMG1C COMPLEX. |
| [12] | "Characterization of SMG-9, an essential component of the nonsense-mediated mRNA decay SMG1C complex." Fernandez I.S., Yamashita A., Arias-Palomo E., Bamba Y., Bartolome R.A., Canales M.A., Teixido J., Ohno S., Llorca O. Nucleic Acids Res. 39:347-358(2011) [PubMed] [Europe PMC] [Abstract] Cited for: SUBUNIT. |
| [13] | "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-668, MASS SPECTROMETRY. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF349467 mRNA. Translation: AAL83913.1. AK001449 mRNA. Translation: BAA91699.1. Different initiation. AK026858 mRNA. Translation: BAB15576.1. AL834490 mRNA. Translation: CAD39148.1. AC099850 Genomic DNA. No translation available. CH471109 Genomic DNA. Translation: EAW94415.1. BC020957 mRNA. Translation: AAH20957.1. Different initiation. BC031604 mRNA. Translation: AAH31604.1. |
| IPI | IPI00328183. IPI00847523. IPI00867503. |
| RefSeq | NP_060619.4. NM_018149.6. |
| UniGene | Hs.7296. |
3D structure databases | |
| ProteinModelPortal | Q8ND04. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q8ND04. 4 interactions. |
| STRING | 9606.ENSP00000300917. |
PTM databases | |
| PhosphoSite | Q8ND04. |
Polymorphism databases | |
| DMDM | 74715258. |
Proteomic databases | |
| PaxDb | Q8ND04. |
| PRIDE | Q8ND04. |
Protocols and materials databases | |
| DNASU | 55181. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000300917; ENSP00000300917; ENSG00000167447. ENST00000543872; ENSP00000438748; ENSG00000167447. ENST00000578922; ENSP00000462119; ENSG00000167447. |
| GeneID | 55181. |
| KEGG | hsa:55181. |
| UCSC | uc002ixi.3. human. |
Organism-specific databases | |
| CTD | 55181. |
| GeneCards | GC17P057288. |
| H-InvDB | HIX0202411. |
| HGNC | HGNC:25551. SMG8. |
| HPA | HPA024841. |
| MIM | 613175. gene. |
| neXtProt | NX_Q8ND04. |
| PharmGKB | PA142672219. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG253733. |
| HOGENOM | HOG000154346. |
| InParanoid | Q8ND04. |
| OMA | HKFHLLP. |
| OrthoDB | EOG4QVCBB. |
| PhylomeDB | Q8ND04. |
Enzyme and pathway databases | |
| Reactome | REACT_21257. Metabolism of RNA. REACT_71. Gene Expression. |
Gene expression databases | |
| Bgee | Q8ND04. |
| CleanEx | HS_C17orf71. |
| Genevestigator | Q8ND04. |
Family and domain databases | |
| InterPro | IPR019354. Smg8/Smg9. [Graphical view] |
| Pfam | PF10220. DUF2146. 2 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | SMG8. human. |
| GenomeRNAi | 55181. |
| NextBio | 59007. |
| SOURCE | Search... |
Entry information
| Entry name | SMG8_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8ND04 Secondary accession number(s): Q8N5U5 Q9NVQ1 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 17 Human chromosome 17: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
