Gene Gene information from NCBI Gene database.
Entrez ID 9887
Gene name SMG7 nonsense mediated mRNA decay factor
Gene symbol SMG7
Synonyms (NCBI Gene)
C1orf16EST1CSGA56M
Chromosome 1
Chromosome location 1q25.3
Summary 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
miRNA miRNA information provided by mirtarbase database.
249
miRTarBase ID miRNA Experiments Reference
MIRT017118 hsa-miR-335-5p Microarray 18185580
MIRT052606 hsa-let-7a-5p CLASH 23622248
MIRT052266 hsa-let-7b-5p CLASH 23622248
MIRT048833 hsa-miR-93-5p CLASH 23622248
MIRT045344 hsa-miR-185-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
GO ID Ontology Definition Evidence Reference
GO:0000184 Process Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IBA
GO:0000184 Process Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IEA
GO:0000184 Process Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS 16488880
GO:0005515 Function Protein binding IPI 14636577, 20930030, 23348841, 25220460, 35271311
GO:0005634 Component Nucleus IDA 14636577
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610964 16792 ENSG00000116698
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q92540
Protein name Nonsense-mediated mRNA decay factor SMG7 (SMG-7 homolog) (hSMG-7)
Protein function Plays a role in nonsense-mediated mRNA decay. Recruits UPF1 to cytoplasmic mRNA decay bodies. Together with SMG5 is thought to provide a link to the mRNA degradation machinery involving exonucleolytic pathways, and to serve as an adapter for UPF
PDB 1YA0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10374 EST1 55 169 Telomerase activating protein Est1 Family
PF10373 EST1_DNA_bind 171 431 Est1 DNA/RNA binding domain Family
Sequence
MSLQSAQYLRQAEVLKADMTDSKLGPAEVWTSRQALQDLYQKMLVTDLEYALDKKVEQDL
WNHAFKNQITTLQGQAKNRANPNRSEVQANLSLFLEAASGFYTQLLQELCTVFNVDLPCR
VKSSQLGIISNKQTHTSAIVKPQSSSCSYICQHCLVHLGDIARYRNQTS
QAESYYRHAAQ
LVPSNGQPYNQLAILASSKGDHLTTIFYYCRSIAVKFPFPAASTNLQKALSKALESRDEV
KTKWGVSDFIKAFIKFHGHVYLSKSLEKLSPLREKLEEQFKRLLFQKAFNSQQLVHVTVI
NLFQLHHLRDFSNETEQHTYSQDEQLCWTQLLALFMSFLGILCKCPLQNESQEESYNAYP
LPAVKVSMDWLRLRPRVFQEAVVDERQYIWPWLISLLNSFHPHEEDLSSISATPLPEEFE
LQGFLALRPSF
RNLDFSKGHQGITGDKEGQQRRIRQQRLISIGKWIADNQPRLIQCENEV
GKLLFITEIPELILEDPSEAKENLILQETSVIESLAADGSPGLKSVLSTSRNLSNNCDTG
EKPVVTFKENIKTREVNRDQGRSFPPKEVRRDYSKGITVTKNDGKKDNNKRKTETKKCTL
EKLQETGKQNVAVQVKSQTELRKTPVSEARKTPVTQTPTQASNSQFIPIHHPGAFPPLPS
RPGFPPPTYVIPPPVAFSMGSGYTFPAGVSVPGTFLQPTAHSPAGNQVQAGKQSHIPYSQ
QRPSGPGPMNQGPQQSQPPSQQPLTSLPAQPTAQSTSQLQVQALTQQQQSPTKAVPALGK
SPPHHSGFQQYQQADASKQLWNPPQVQGPLGKIMPVKQPYYLQTQDPIKLFEPSLQPPVM
QQQPLEKKMKPFPMEPYNHNPSEVKVPEFYWDSSYSMADNRSVMAQQANIDRRGKRSPGV
FRPEQDPVPRMPFEKSLLEKPSELMSHSSSFLSLTGFSLNQERYPNNSMFNEVYGKNLTS
SSKAELSPSMAPQETSLYSLFEGTPWSPSLPASSDHSTPASQSPHSSNPSSLPSSPPTHN
HNSVPFSNFGPIGTPDNRDRRTADRWKTDKPAMGGFGIDYLSATSSSESSWHQASTPSGT
WTGHGPSMEDSSAVLMESLKSIWSSSMMHPGPSALEQLLMQQKQKQQRGQGTMNPPH
Sequence length 1137
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  mRNA surveillance pathway   Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Gastric cancer Uncertain significance rs556853158 RCV005930980
Neurodevelopmental abnormality Uncertain significance rs1669861438 RCV001264691
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Death Associate 35511739
Infections Inhibit 36768954
Lupus Erythematosus Systemic Associate 26783109
Melanoma Stimulate 36931476
Melanoma Cutaneous Malignant Stimulate 36931476
Multiple Sclerosis Associate 25818868
Neoplasm Metastasis Associate 36931476
Prostatic Neoplasms Associate 35511739
Thyroid Neoplasms Associate 36281116
Urogenital Abnormalities Associate 37584388