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SMG7 (SMG7 nonsense mediated mRNA decay factor)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9887
Gene nameGene Name - the full gene name approved by the HGNC.
SMG7 nonsense mediated mRNA decay factor
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SMG7
SynonymsGene synonyms aliases
C1orf16, EST1C, SGA56M
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q25.3
SummarySummary 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  mRNA surveillance pathway   Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
Associated diseases
Causal
Disease name Disease term 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, rs104894514, rs104894515, rs1567609091, rs104894511, rs28941476, rs1907271302, rs119103269, rs137854585, rs137854588, rs137854590, rs137854591, rs137854596, rs2146821097, rs137854592, rs1602175016, rs137854593, rs137854594, rs387906485, rs2146810847, rs1569478551, rs387906486, rs151344498, rs151344497, rs876657377, rs387906808, rs193922445, rs193922446, rs193922448, rs193922449, rs179363892, rs179363894, rs151344484, rs151344470, rs151344473, rs151344454, rs151344481, rs151344491, rs151344482, rs151344462, rs151344466, rs151344467, rs137854508, rs193922450, rs869025585, rs886039335, rs886039337, rs886041194, rs886041192, rs990043411, rs1057517730, rs1064794299, rs1453468510, rs28445840, rs145360423, rs1131691828, rs1556473078, rs1556464554, rs1556470775, rs1556464116, rs1556473119, rs1556469197, rs1556471620, rs1558098982, rs1290169467, rs1558092897, rs777621636, rs1569479943, rs1569480333, rs1567608830, rs1567608853, rs1439134665, rs1569480031, rs1569479953, rs766745748, rs782800778, rs1584370623, rs779809359, rs1472146831, rs1572151178, rs1352931329, rs1597374562, rs1602183698, rs200129367, rs1602186299, rs771926427, rs1602173465, rs1200078508, rs1602184316, rs1602183244, rs535897564, rs151344455, rs180899069, rs1929244686, rs1929497736, rs1929531349, rs1352107832, rs1929527785, rs1929245964, rs1939893821, rs763678131 18625437, 25937994, 10498624, 10598813, 19624736, 20167518
Rheumatoid arthritis Rheumatoid Arthritis rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212 26546613, 30573655
Unknown
Disease name Disease term dbSNP ID References
Celiac disease Celiac Disease rs2305764, rs35218876 26546613
Lupus erythematosus Lupus Erythematosus, Systemic 27399966, 19838195, 26606652, 28714469, 30573655, 26502338
Myositis Myositis 30573655
Scleroderma Systemic Scleroderma 30573655

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