• Gene id: 9887

Gene Summary

• Gene Symbol: SMG7   Gene   UCSC   Ensembl
• Aliases: C1orf16, EST1C, SGA56M
• Gene name: SMG7 nonsense mediated mRNA decay factor
• Alternate names: protein SMG7, EST1 telomerase component homolog C, EST1-like protein C, breast cancer-associated antigen SGA-56M, ever shorter telomeres 1C, smg-7 homolog, nonsense mediated mRNA decay factor,
• Gene location: 1q25.3 (183471992: 183554192)     Exons: 27     NC_000001.11
• Gene summary(Entrez): This gene encodes a protein that is essential for nonsense-mediated mRNA decay (NMD); a process whereby transcripts with premature termination codons are targeted for rapid degradation by a mRNA decay complex. The mRNA decay complex consists, in part, of
• OMIM: 610964

Protein Summary

• Protein general information: Q92540  
  • Name: Protein SMG7 (EST1 like protein C) (SMG 7 homolog) (hSMG 7)
  • Length: 1137  
  • Mass: 127282
• Sequence:

  MSLQSAQYLRQAEVLKADMTDSKLGPAEVWTSRQALQDLYQKMLVTDLEYALDKKVEQDLWNHAFKNQITTLQGQ
  AKNRANPNRSEVQANLSLFLEAASGFYTQLLQELCTVFNVDLPCRVKSSQLGIISNKQTHTSAIVKPQSSSCSYI
  CQHCLVHLGDIARYRNQTSQAESYYRHAAQLVPSNGQPYNQLAILASSKGDHLTTIFYYCRSIAVKFPFPAASTN
  LQKALSKALESRDEVKTKWGVSDFIKAFIKFHGHVYLSKSLEKLSPLREKLEEQFKRLLFQKAFNSQQLVHVTVI
  NLFQLHHLRDFSNETEQHTYSQDEQLCWTQLLALFMSFLGILCKCPLQNESQEESYNAYPLPAVKVSMDWLRLRP
  RVFQEAVVDERQYIWPWLISLLNSFHPHEEDLSSISATPLPEEFELQGFLALRPSFRNLDFSKGHQGITGDKEGQ
  QRRIRQQRLISIGKWIADNQPRLIQCENEVGKLLFITEIPELILEDPSEAKENLILQETSVIESLAADGSPGLKS
  VLSTSRNLSNNCDTGEKPVVTFKENIKTREVNRDQGRSFPPKEVRRDYSKGITVTKNDGKKDNNKRKTETKKCTL
  EKLQETGKQNVAVQVKSQTELRKTPVSEARKTPVTQTPTQASNSQFIPIHHPGAFPPLPSRPGFPPPTYVIPPPV
  AFSMGSGYTFPAGVSVPGTFLQPTAHSPAGNQVQAGKQSHIPYSQQRPSGPGPMNQGPQQSQPPSQQPLTSLPAQ
  PTAQSTSQLQVQALTQQQQSPTKAVPALGKSPPHHSGFQQYQQADASKQLWNPPQVQGPLGKIMPVKQPYYLQTQ
  DPIKLFEPSLQPPVMQQQPLEKKMKPFPMEPYNHNPSEVKVPEFYWDSSYSMADNRSVMAQQANIDRRGKRSPGV
  FRPEQDPVPRMPFEKSLLEKPSELMSHSSSFLSLTGFSLNQERYPNNSMFNEVYGKNLTSSSKAELSPSMAPQET
  SLYSLFEGTPWSPSLPASSDHSTPASQSPHSSNPSSLPSSPPTHNHNSVPFSNFGPIGTPDNRDRRTADRWKTDK
  PAMGGFGIDYLSATSSSESSWHQASTPSGTWTGHGPSMEDSSAVLMESLKSIWSSSMMHPGPSALEQLLMQQKQK
  QQRGQGTMNPPH

• Structural information:
  • Interpro: IPR018834  IPR019458  IPR011990  
  • PDB: 1YA0
  • PDBsum: 1YA0
  • STRING: ENSP00000425133
• Other Databases: GeneCards:  SMG7  Malacards:  SMG7

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:0035303	regulation of dephosphorylation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000184	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	TAS	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005697	telomerase holoenzyme complex	IBA	cellular component
GO:0007004	telomere maintenance via telomerase	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0032210	regulation of telomere maintenance via telomerase	IBA	biological process
GO:0042162	telomeric DNA binding	IBA	molecular function
GO:0070034	telomerase RNA binding	IBA	molecular function
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:0042162	telomeric DNA binding	IDA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0045111	intermediate filament cytoskeleton	IDA	cellular component
GO:0005829	cytosol	IDA	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
Cryptorchidism	MIK: 21412036
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)
21412036	Cryptorchidism			23 (4 controls, 19 cases)	Male infertility	GSE25518 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881