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Q8ND04 (SMG8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 85. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein SMG8
Alternative name(s):
Amplified in breast cancer gene 2 protein
Protein smg-8 homolog
Gene names
Name:SMG8
Synonyms:ABC2, C17orf71
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length991 AA.
Sequence statusComplete.
Protein existenceEvidence 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.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

SMG9Q9H0W84EBI-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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 991991Protein SMG8
PRO_0000304974

Amino acid modifications

Modified residue4691Phosphoserine Ref.7
Modified residue6681Phosphoserine Ref.13

Natural variations

Alternative sequence5881E → S in isoform 3.
VSP_028164
Alternative sequence589 – 991403Missing in isoform 3.
VSP_028165
Alternative sequence9451T → TLPPDGLWVLRFPYAYGLRE DLVSPXGKKQEIP in isoform 2.
VSP_028166
Natural variant2801P → L.
Corresponds to variant rs8068240 [ dbSNP | Ensembl ].
VAR_035137

Experimental info

Sequence conflict2781E → V in BAB15576. Ref.2
Sequence conflict4111R → W in BAB15576. Ref.2
Sequence conflict4881F → L in AAL83913. Ref.1
Sequence conflict4911I → F in AAL83913. Ref.1
Sequence conflict4931T → P in AAL83913. Ref.1
Sequence conflict5201T → P in AAL83913. Ref.1
Sequence conflict5221T → P in AAL83913. Ref.1
Sequence conflict5321L → R in AAL83913. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 1, 2002. Version 1.
Checksum: 9D8168B171179CFF

FASTA991109,684
        10         20         30         40         50         60 
MAGPVSLRDL LMGASAWMGS ESPGGSPTEG GGSAAGGPEP PWREDEICVV GIFGKTALRL 

        70         80         90        100        110        120 
NSEKFSLVNT VCDRQVFPLF RHQDPGDPGP GIRTEAGAVG EAGGAEDPGA AAGGSVRGSG 

       130        140        150        160        170        180 
AVAEGNRTEA GSQDYSLLQA YYSQESKVLY LLLTSICDNS QLLRACRALQ SGEAGGGLSL 

       190        200        210        220        230        240 
PHAEAHEFWK HQEKLQCLSL LYLFSVCHIL LLVHPTCSFD ITYDRVFRAL DGLRQKVLPL 

       250        260        270        280        290        300 
LKTAIKDCPV GKDWKLNCRP CPPRLLFLFQ LNGALKVEPP RNQDPAHPDK PKKHSPKRRL 

       310        320        330        340        350        360 
QHALEDQIYR IFRKSRVLTN QSINCLFTVP ANQAFVYIVP GSQEEDPVGM LLDQLRSHCT 

       370        380        390        400        410        420 
VKDPESLLVP APLSGPRRYQ VMRQHSRQQL SFHIDSSSSS SSGQLVDFTL REFLWQHVEL 

       430        440        450        460        470        480 
VLSKKGFDDS VGRNPQPSHF ELPTYQKWIS AASKLYEVAI DGKEEDLGSP TGELTSKILS 

       490        500        510        520        530        540 
SIKVLEGFLD IDTKFSENRC QKALPMAHSA YQSNLPHNYT MTVHKNQLAQ ALRVYSQHAR 

       550        560        570        580        590        600 
GPAFHKYAMQ LHEDCYKFWS NGHQLCEERS LTDQHCVHKF HSLPKSGEKP EADRNPPVLY 

       610        620        630        640        650        660 
HNSRARSTGA CNCGRKQAPR DDPFDIKAAN YDFYQLLEEK CCGKLDHINF PVFEPSTPDP 

       670        680        690        700        710        720 
APAKNESSPA PPDSDADKLK EKEPQTQGES TSLSLALSLG QSTDSLGTYP ADPQAGGDNP 

       730        740        750        760        770        780 
EVHGQVEVKT EKRPNFVDRQ ASTVEYLPGM LHSNCPKGLL PKFSSWSLVK LGPAKSYNFH 

       790        800        810        820        830        840 
TGLDQQGFIP GTNYLMPWDI VIRTRAEDEG DLDTNSWPAP NKAIPGKRSA VVMGRGRRRD 

       850        860        870        880        890        900 
DIARAFVGFE YEDSRGRRFM CSGPDKVMKV MGSGPKESAL KALNSDMPLY ILSSSQGRGL 

       910        920        930        940        950        960 
KPHYAQLMRL FVVVPDAPLQ IILMPQVQPG PPPCPVFYPE KQEITLPPDG LWVLRFPYAY 

       970        980        990 
VTERGPCFPP KENVQLMSYK VLRGVLKAVT Q 

« Hide

Isoform 2 (ABC2) [UniParc].

Checksum: 0A57F66C4D7DEEDC
Show »

FASTA1,023113,332
Isoform 3 [UniParc].

Checksum: 25C593B6499D91B8
Show »

FASTA58865,088

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. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., 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. expand/collapse author list , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., 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. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., 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, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
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, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

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.
CCDSCCDS11615.1. [Q8ND04-1]
RefSeqNP_060619.4. NM_018149.6. [Q8ND04-1]
UniGeneHs.7296.

3D structure databases

ProteinModelPortalQ8ND04.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120480. 6 interactions.
IntActQ8ND04. 4 interactions.
STRING9606.ENSP00000300917.

PTM databases

PhosphoSiteQ8ND04.

Polymorphism databases

DMDM74715258.

Proteomic databases

MaxQBQ8ND04.
PaxDbQ8ND04.
PRIDEQ8ND04.

Protocols and materials databases

DNASU55181.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000300917; ENSP00000300917; ENSG00000167447. [Q8ND04-1]
ENST00000543872; ENSP00000438748; ENSG00000167447. [Q8ND04-1]
ENST00000578922; ENSP00000462119; ENSG00000167447. [Q8ND04-3]
GeneID55181.
KEGGhsa:55181.
UCSCuc002ixi.3. human. [Q8ND04-1]

Organism-specific databases

CTD55181.
GeneCardsGC17P057288.
H-InvDBHIX0202411.
HGNCHGNC:25551. SMG8.
HPAHPA024841.
MIM613175. gene.
neXtProtNX_Q8ND04.
PharmGKBPA142672219.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG253733.
HOGENOMHOG000154346.
InParanoidQ8ND04.
OMAHKFHLLP.
OrthoDBEOG7S4X5N.
PhylomeDBQ8ND04.
TreeFamTF323445.

Enzyme and pathway databases

ReactomeREACT_21257. Metabolism of RNA.
REACT_71. Gene Expression.

Gene expression databases

ArrayExpressQ8ND04.
BgeeQ8ND04.
CleanExHS_C17orf71.
GenevestigatorQ8ND04.

Family and domain databases

InterProIPR028802. SMG8.
IPR019354. Smg8/Smg9.
[Graphical view]
PANTHERPTHR13091:SF0. PTHR13091:SF0. 1 hit.
PfamPF10220. DUF2146. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSSMG8. human.
GenomeRNAi55181.
NextBio59007.
PROQ8ND04.
SOURCESearch...

Entry information

Entry nameSMG8_HUMAN
AccessionPrimary (citable) accession number: Q8ND04
Secondary accession number(s): Q8N5U5 expand/collapse secondary AC list , Q8TDN0, Q9H5P5, Q9NVQ1
Entry history
Integrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: October 1, 2002
Last modified: July 9, 2014
This is version 85 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM