• Gene id: 55181

Gene Summary

• Gene Symbol: SMG8   Gene   UCSC   Ensembl
• Aliases: C17orf71
• Gene name: SMG8 nonsense mediated mRNA decay factor
• Alternate names: protein SMG8, amplified in breast cancer gene 2 protein, protein smg-8 homolog, smg-8 homolog, nonsense mediated mRNA decay factor,
• Gene location: 17q22 (59210009: 59215249)     Exons: 4     NC_000017.11
• OMIM: 613175

Protein Summary

• Protein general information: Q8ND04  
  • Name: Protein SMG8 (Amplified in breast cancer gene 2 protein) (Protein smg 8 homolog)
  • Length: 991  
  • Mass: 109684
• Sequence:

  MAGPVSLRDLLMGASAWMGSESPGGSPTEGGGSAAGGPEPPWREDEICVVGIFGKTALRLNSEKFSLVNTVCDRQ
  VFPLFRHQDPGDPGPGIRTEAGAVGEAGGAEDPGAAAGGSVRGSGAVAEGNRTEAGSQDYSLLQAYYSQESKVLY
  LLLTSICDNSQLLRACRALQSGEAGGGLSLPHAEAHEFWKHQEKLQCLSLLYLFSVCHILLLVHPTCSFDITYDR
  VFRALDGLRQKVLPLLKTAIKDCPVGKDWKLNCRPCPPRLLFLFQLNGALKVEPPRNQDPAHPDKPKKHSPKRRL
  QHALEDQIYRIFRKSRVLTNQSINCLFTVPANQAFVYIVPGSQEEDPVGMLLDQLRSHCTVKDPESLLVPAPLSG
  PRRYQVMRQHSRQQLSFHIDSSSSSSSGQLVDFTLREFLWQHVELVLSKKGFDDSVGRNPQPSHFELPTYQKWIS
  AASKLYEVAIDGKEEDLGSPTGELTSKILSSIKVLEGFLDIDTKFSENRCQKALPMAHSAYQSNLPHNYTMTVHK
  NQLAQALRVYSQHARGPAFHKYAMQLHEDCYKFWSNGHQLCEERSLTDQHCVHKFHSLPKSGEKPEADRNPPVLY
  HNSRARSTGACNCGRKQAPRDDPFDIKAANYDFYQLLEEKCCGKLDHINFPVFEPSTPDPAPAKNESSPAPPDSD
  ADKLKEKEPQTQGESTSLSLALSLGQSTDSLGTYPADPQAGGDNPEVHGQVEVKTEKRPNFVDRQASTVEYLPGM
  LHSNCPKGLLPKFSSWSLVKLGPAKSYNFHTGLDQQGFIPGTNYLMPWDIVIRTRAEDEGDLDTNSWPAPNKAIP
  GKRSAVVMGRGRRRDDIARAFVGFEYEDSRGRRFMCSGPDKVMKVMGSGPKESALKALNSDMPLYILSSSQGRGL
  KPHYAQLMRLFVVVPDAPLQIILMPQVQPGPPPCPVFYPEKQEITLPPDGLWVLRFPYAYVTERGPCFPPKENVQ
  LMSYKVLRGVLKAVTQ

• Structural information:
  • Interpro: IPR028802  IPR019354  
  • PDB: 6SYT
  • PDBsum: 6SYT
  • STRING: ENSP00000438748
• Other Databases: GeneCards:  SMG8  Malacards:  SMG8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IMP	biological process
GO:0045859	regulation of protein kinase activity	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IEA	biological process
GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IEA	biological process
GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005575	cellular_component	ND	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)