Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9887
Gene name Gene Name - the full gene name approved by the HGNC.
SMG7 nonsense mediated mRNA decay factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SMG7
Synonyms (NCBI Gene) Gene synonyms aliases
C1orf16, EST1C, SGA56M
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q25.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000184 Process Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IBA 21873635
GO:0000184 Process Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS 16488880
GO:0005515 Function Protein binding IPI 14636577, 20930030, 23348841
GO:0005634 Component Nucleus IDA 14636577
GO:0005697 Component Telomerase holoenzyme complex IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610964 16792 ENSG00000116698
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Granulomatous disease Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II rs796065030, rs374402066, rs796065031, rs796065032, rs119103276, rs796065033, rs119103274, rs4029402, rs1563003964, rs119103270, rs1307080411, rs119103271, rs119103272, rs119103273, rs104894513
View all (100 more)
18625437, 25937994, 10498624, 10598813, 19624736, 20167518
Rheumatoid arthritis Rheumatoid Arthritis rs587776843 26546613, 30573655
Unknown
Disease term Disease name Evidence References Source
Celiac disease Celiac Disease, Celiac disease 26546613 ClinVar, GWAS
Autoimmune Diseases autoimmune disease GenCC
Systemic lupus erythematosus Systemic lupus erythematosus GWAS
Associations from Text Mining
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