• Gene id: 23381

Gene Summary

• Gene Symbol: SMG5   Gene   UCSC   Ensembl
• Aliases: EST1B, LPTS-RP1, LPTSRP1, SMG-5
• Gene name: SMG5 nonsense mediated mRNA decay factor
• Alternate names: protein SMG5, EST1 telomerase component homolog B, EST1-like protein B, Est1p-like protein B, LPTS interacting protein, ever shorter telomeres 1B, smg-5 homolog, nonsense mediated mRNA decay factor,
• Gene location: 1q22 (156291497: 156249223)     Exons: 25     NC_000001.11
• Gene summary(Entrez): SMG5 is involved in nonsense-mediated mRNA decay (Ohnishi et al., 2003 [PubMed 14636577]).[supplied by OMIM, Mar 2008]
• OMIM: 605144

Protein Summary

• Protein general information: Q9UPR3  
  • Name: Protein SMG5 (EST1 like protein B) (LPTS RP1) (LPTS interacting protein) (SMG 5 homolog) (hSMG 5)
  • Length: 1016  
  • Mass: 113928
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MSQGPPTGESSEPEAKVLHTKRLYRAVVEAVHRLDLILCNKTAYQEVFKPENISLRNKLRELCVKLMFLHPVDYG
  RKAEELLWRKVYYEVIQLIKTNKKHIHSRSTLECAYRTHLVAGIGFYQHLLLYIQSHYQLELQCCIDWTHVTDPL
  IGCKKPVSASGKEMDWAQMACHRCLVYLGDLSRYQNELAGVDTELLAERFYYQALSVAPQIGMPFNQLGTLAGSK
  YYNVEAMYCYLRCIQSEVSFEGAYGNLKRLYDKAAKMYHQLKKCETRKLSPGKKRCKDIKRLLVNFMYLQSLLQP
  KSSSVDSELTSLCQSVLEDFNLCLFYLPSSPNLSLASEDEEEYESGYAFLPDLLIFQMVIICLMCVHSLERAGSK
  QYSAAIAFTLALFSHLVNHVNIRLQAELEEGENPVPAFQSDGTDEPESKEPVEKEEEPDPEPPPVTPQVGEGRKS
  RKFSRLSCLRRRRHPPKVGDDSDLSEGFESDSSHDSARASEGSDSGSDKSLEGGGTAFDAETDSEMNSQESRSDL
  EDMEEEEGTRSPTLEPPRGRSEAPDSLNGPLGPSEASIASNLQAMSTQMFQTKRCFRLAPTFSNLLLQPTTNPHT
  SASHRPCVNGDVDKPSEPASEEGSESEGSESSGRSCRNERSIQEKLQVLMAEGLLPAVKVFLDWLRTNPDLIIVC
  AQSSQSLWNRLSVLLNLLPAAGELQESGLALCPEVQDLLEGCELPDLPSSLLLPEDMALRNLPPLRAAHRRFNFD
  TDRPLLSTLEESVVRICCIRSFGHFIARLQGSILQFNPEVGIFVSIAQSEQESLLQQAQAQFRMAQEEARRNRLM
  RDMAQLRLQLEVSQLEGSLQQPKAQSAMSPYLVPDTQALCHHLPVIRQLATSGRFIVIIPRTVIDGLDLLKKEHP
  GARDGIRYLEAEFKKGNRYIRCQKEVGKSFERHKLKRQDADAWTLYKILDSCKQLTLAQGAGEEDPSGMVTIITG
  LPLDNPSVLSGPMQAALQAAAHASVDIKNVLDFYKQWKEIG

• Structural information:
  • Protein Domains: (872..99-)
    (/note="PINc"-)
  • Interpro: IPR018834  IPR019458  IPR002716  IPR011990  
  • PDB: 2HWY
  • PDBsum: 2HWY
  • STRING: ENSP00000355261
• Other Databases: GeneCards:  SMG5  Malacards:  SMG5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006406	mRNA export from nucleus	TAS	biological process
GO:0051721	protein phosphatase 2A binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0035303	regulation of dephosphorylation	IMP	biological process
GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	TAS	biological process
GO:0007004	telomere maintenance via telomerase	IBA	biological process
GO:0005697	telomerase holoenzyme complex	IBA	cellular component
GO:0070034	telomerase RNA binding	IBA	molecular function
GO:0042162	telomeric DNA binding	IBA	molecular function
GO:0032210	regulation of telomere maintenance via telomerase	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
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:0042826	histone deacetylase binding	IPI	molecular function
GO:0042162	telomeric DNA binding	IDA	molecular function
GO:0070034	telomerase RNA binding	IPI	molecular function
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0032210	regulation of telomere maintenance via telomerase	TAS	biological process
GO:0032204	regulation of telomere maintenance	IMP	biological process
GO:0070034	telomerase RNA binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03015	mRNA surveillance pathway

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881