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Protein

Protein SMG8

Gene

SMG8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.1 Publication

GO - Biological processi

  • nuclear-transcribed mRNA catabolic process, nonsense-mediated decay Source: UniProtKB
  • regulation of protein kinase activity Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Nonsense-mediated mRNA decay

Enzyme and pathway databases

ReactomeiR-HSA-975957. Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC).

Names & Taxonomyi

Protein namesi
Recommended name:
Protein SMG8
Alternative name(s):
Amplified in breast cancer gene 2 protein
Protein smg-8 homolog
Gene namesi
Name:SMG8
Synonyms:ABC2, C17orf71
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:25551. SMG8.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

DisGeNETi55181.
OpenTargetsiENSG00000167447.
PharmGKBiPA142672219.

Polymorphism and mutation databases

BioMutaiSMG8.
DMDMi74715258.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003049741 – 991Protein SMG8Add BLAST991

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei115PhosphoserineCombined sources1
Modified residuei469PhosphoserineCombined sources1
Modified residuei668PhosphoserineCombined sources1
Modified residuei742PhosphoserineCombined sources1
Modified residuei895PhosphoserineCombined sources1
Modified residuei898Omega-N-methylarginineCombined sources1

Post-translational modificationi

Phosphorylated by SMG1.1 Publication

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

EPDiQ8ND04.
MaxQBiQ8ND04.
PaxDbiQ8ND04.
PeptideAtlasiQ8ND04.
PRIDEiQ8ND04.

PTM databases

iPTMnetiQ8ND04.
PhosphoSitePlusiQ8ND04.

Expressioni

Gene expression databases

BgeeiENSG00000167447.
CleanExiHS_C17orf71.
ExpressionAtlasiQ8ND04. baseline and differential.
GenevisibleiQ8ND04. HS.

Organism-specific databases

HPAiHPA024841.

Interactioni

Subunit structurei

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.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
SMG9Q9H0W85EBI-3903643,EBI-2872322

Protein-protein interaction databases

BioGridi120480. 32 interactors.
IntActiQ8ND04. 4 interactors.
STRINGi9606.ENSP00000300917.

Structurei

3D structure databases

ProteinModelPortaliQ8ND04.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the SMG8 family.Curated

Phylogenomic databases

eggNOGiKOG3692. Eukaryota.
ENOG410Y30B. LUCA.
GeneTreeiENSGT00390000018533.
HOGENOMiHOG000154346.
InParanoidiQ8ND04.
KOiK18734.
OMAiGCFDEGS.
OrthoDBiEOG091G04FV.
PhylomeDBiQ8ND04.
TreeFamiTF323445.

Family and domain databases

InterProiIPR028802. SMG8.
IPR019354. Smg8/Smg9.
[Graphical view]
PANTHERiPTHR13091:SF0. PTHR13091:SF0. 3 hits.
PfamiPF10220. Smg8_Smg9. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8ND04-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MAGPVSLRDL LMGASAWMGS ESPGGSPTEG GGSAAGGPEP PWREDEICVV
60 70 80 90 100
GIFGKTALRL NSEKFSLVNT VCDRQVFPLF RHQDPGDPGP GIRTEAGAVG
110 120 130 140 150
EAGGAEDPGA AAGGSVRGSG AVAEGNRTEA GSQDYSLLQA YYSQESKVLY
160 170 180 190 200
LLLTSICDNS QLLRACRALQ SGEAGGGLSL PHAEAHEFWK HQEKLQCLSL
210 220 230 240 250
LYLFSVCHIL LLVHPTCSFD ITYDRVFRAL DGLRQKVLPL LKTAIKDCPV
260 270 280 290 300
GKDWKLNCRP CPPRLLFLFQ LNGALKVEPP RNQDPAHPDK PKKHSPKRRL
310 320 330 340 350
QHALEDQIYR IFRKSRVLTN QSINCLFTVP ANQAFVYIVP GSQEEDPVGM
360 370 380 390 400
LLDQLRSHCT VKDPESLLVP APLSGPRRYQ VMRQHSRQQL SFHIDSSSSS
410 420 430 440 450
SSGQLVDFTL REFLWQHVEL VLSKKGFDDS VGRNPQPSHF ELPTYQKWIS
460 470 480 490 500
AASKLYEVAI DGKEEDLGSP TGELTSKILS SIKVLEGFLD IDTKFSENRC
510 520 530 540 550
QKALPMAHSA YQSNLPHNYT MTVHKNQLAQ ALRVYSQHAR GPAFHKYAMQ
560 570 580 590 600
LHEDCYKFWS NGHQLCEERS LTDQHCVHKF HSLPKSGEKP EADRNPPVLY
610 620 630 640 650
HNSRARSTGA CNCGRKQAPR DDPFDIKAAN YDFYQLLEEK CCGKLDHINF
660 670 680 690 700
PVFEPSTPDP APAKNESSPA PPDSDADKLK EKEPQTQGES TSLSLALSLG
710 720 730 740 750
QSTDSLGTYP ADPQAGGDNP EVHGQVEVKT EKRPNFVDRQ ASTVEYLPGM
760 770 780 790 800
LHSNCPKGLL PKFSSWSLVK LGPAKSYNFH TGLDQQGFIP GTNYLMPWDI
810 820 830 840 850
VIRTRAEDEG DLDTNSWPAP NKAIPGKRSA VVMGRGRRRD DIARAFVGFE
860 870 880 890 900
YEDSRGRRFM CSGPDKVMKV MGSGPKESAL KALNSDMPLY ILSSSQGRGL
910 920 930 940 950
KPHYAQLMRL FVVVPDAPLQ IILMPQVQPG PPPCPVFYPE KQEITLPPDG
960 970 980 990
LWVLRFPYAY VTERGPCFPP KENVQLMSYK VLRGVLKAVT Q
Length:991
Mass (Da):109,684
Last modified:October 1, 2002 - v1
Checksum:i9D8168B171179CFF
GO
Isoform 2 (identifier: Q8ND04-2) [UniParc]FASTAAdd to basket
Also known as: ABC2

The sequence of this isoform differs from the canonical sequence as follows:
     945-945: T → TLPPDGLWVLRFPYAYGLREDLVSPXGKKQEIP

Show »
Length:1,023
Mass (Da):113,332
Checksum:i0A57F66C4D7DEEDC
GO
Isoform 3 (identifier: Q8ND04-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     588-588: E → S
     589-991: Missing.

Note: No experimental confirmation available.
Show »
Length:588
Mass (Da):65,088
Checksum:i25C593B6499D91B8
GO

Sequence cautioni

The sequence AAH20957 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAA91699 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti278E → V in BAB15576 (PubMed:14702039).Curated1
Sequence conflicti411R → W in BAB15576 (PubMed:14702039).Curated1
Sequence conflicti488F → L in AAL83913 (Ref. 1) Curated1
Sequence conflicti491I → F in AAL83913 (Ref. 1) Curated1
Sequence conflicti493T → P in AAL83913 (Ref. 1) Curated1
Sequence conflicti520T → P in AAL83913 (Ref. 1) Curated1
Sequence conflicti522T → P in AAL83913 (Ref. 1) Curated1
Sequence conflicti532L → R in AAL83913 (Ref. 1) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_035137280P → L.Corresponds to variant rs8068240dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_028164588E → S in isoform 3. 1 Publication1
Alternative sequenceiVSP_028165589 – 991Missing in isoform 3. 1 PublicationAdd BLAST403
Alternative sequenceiVSP_028166945T → TLPPDGLWVLRFPYAYGLRE DLVSPXGKKQEIP in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS11615.1. [Q8ND04-1]
RefSeqiNP_060619.4. NM_018149.6. [Q8ND04-1]
UniGeneiHs.7296.

Genome annotation databases

EnsembliENST00000300917; ENSP00000300917; ENSG00000167447. [Q8ND04-1]
ENST00000543872; ENSP00000438748; ENSG00000167447. [Q8ND04-1]
ENST00000578922; ENSP00000462119; ENSG00000167447. [Q8ND04-3]
GeneIDi55181.
KEGGihsa:55181.
UCSCiuc002ixi.4. human. [Q8ND04-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS11615.1. [Q8ND04-1]
RefSeqiNP_060619.4. NM_018149.6. [Q8ND04-1]
UniGeneiHs.7296.

3D structure databases

ProteinModelPortaliQ8ND04.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120480. 32 interactors.
IntActiQ8ND04. 4 interactors.
STRINGi9606.ENSP00000300917.

PTM databases

iPTMnetiQ8ND04.
PhosphoSitePlusiQ8ND04.

Polymorphism and mutation databases

BioMutaiSMG8.
DMDMi74715258.

Proteomic databases

EPDiQ8ND04.
MaxQBiQ8ND04.
PaxDbiQ8ND04.
PeptideAtlasiQ8ND04.
PRIDEiQ8ND04.

Protocols and materials databases

DNASUi55181.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000300917; ENSP00000300917; ENSG00000167447. [Q8ND04-1]
ENST00000543872; ENSP00000438748; ENSG00000167447. [Q8ND04-1]
ENST00000578922; ENSP00000462119; ENSG00000167447. [Q8ND04-3]
GeneIDi55181.
KEGGihsa:55181.
UCSCiuc002ixi.4. human. [Q8ND04-1]

Organism-specific databases

CTDi55181.
DisGeNETi55181.
GeneCardsiSMG8.
H-InvDBHIX0202411.
HGNCiHGNC:25551. SMG8.
HPAiHPA024841.
MIMi613175. gene.
neXtProtiNX_Q8ND04.
OpenTargetsiENSG00000167447.
PharmGKBiPA142672219.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3692. Eukaryota.
ENOG410Y30B. LUCA.
GeneTreeiENSGT00390000018533.
HOGENOMiHOG000154346.
InParanoidiQ8ND04.
KOiK18734.
OMAiGCFDEGS.
OrthoDBiEOG091G04FV.
PhylomeDBiQ8ND04.
TreeFamiTF323445.

Enzyme and pathway databases

ReactomeiR-HSA-975957. Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC).

Miscellaneous databases

ChiTaRSiSMG8. human.
GenomeRNAii55181.
PROiQ8ND04.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000167447.
CleanExiHS_C17orf71.
ExpressionAtlasiQ8ND04. baseline and differential.
GenevisibleiQ8ND04. HS.

Family and domain databases

InterProiIPR028802. SMG8.
IPR019354. Smg8/Smg9.
[Graphical view]
PANTHERiPTHR13091:SF0. PTHR13091:SF0. 3 hits.
PfamiPF10220. Smg8_Smg9. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSMG8_HUMAN
AccessioniPrimary (citable) accession number: Q8ND04
Secondary accession number(s): Q8N5U5
, Q8TDN0, Q9H5P5, Q9NVQ1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: October 1, 2002
Last modified: November 2, 2016
This is version 105 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.