SMG6
entrez
23293
canonical
uniprot
Q86US8
canonical
ensembl
ENSG00000070366
resolver
ensp
ENSP00000263073
resolver
ensp
ENSP00000346977
resolver
ensp
ENSP00000440283
resolver
ensp
ENSP00000777622
resolver
genesymbol
SMG6
resolver
genesymbol_syn
C17orf31
resolver
genesymbol_syn
EST1A
resolver
genesymbol_syn
KIAA0732
resolver
hgnc
HGNC:17809
resolver
uniprot
B7Z874
resolver
uniprot
O94837
resolver
uniprot
Q86VH6
resolver
uniprot
Q9UF60
resolver
uniprot_entry
EST1A_HUMAN
resolver
uniprot_sec
B7Z874
resolver
uniprot_sec
O94837
resolver
uniprot_sec
Q86VH6
resolver
uniprot_sec
Q9UF60
resolver
amino_acid_sequence
MAEGLERVRISASELRGILATLAPQAGSRENMKELKEARPRKDNRRPDLEIYKPGLSRLRNKPKIKEPPGSEEFKDEIVNDRDCSAVENGTQPVKDVCKELNNQEQNGPIDPENNRGQESFPRTAGQEDRSLKIIKRTKKPDLQIYQPGRRLQTVSKESASRVEEEEVLNQVEQLRVEEDECRGNVAKEEVANKPDRAEIEKSPGGGRVGAAKGEKGKRMGKGEGVRETHDDPARGRPGSAKRYSRSDKRRNRYRTRSTSSAGSNNSAEGAGLTDNGCRRRRQDRTKERPRLKKQVSVSSTDSLDEDRIDEPDGLGPRRSSERKRHLERNWSGRGEGEQKNSAKEYRGTLRVTFDAEAMNKESPMVRSARDDMDRGKPDKGLSSGGKGSEKQESKNPKQELRGRGRGILILPAHTTLSVNSAGSPESAPLGPRLLFGSGSKGSRSWGRGGTTRRLWDPNNPDQKPALKTQTPQLHFLDTDDEVSPTSWGDSRQAQASYYKFQNSDNPYYYPRTPGPASQYPYTGYNPLQYPVGPTNGVYPGPYYPGYPTPSGQYVCSPLPTSTMSPEEVEQHMRNLQQQELHRLLRVADNQELQLSNLLSRDRISPEGLEKMAQLRAELLQLYERCILLDIEFSDNQNVDQILWKNAFYQVIEKFRQLVKDPNVENPEQIRNRLLELLDEGSDFFDSLLQKLQVTYKFKLEDYMDGLAIRSKPLRKTVKYALISAQRCMICQGDIARYREQASDTANYGKARSWYLKAQHIAPKNGRPYNQLALLAVYTRRKLDAVYYYMRSLAASNPILTAKESLMSLFEETKRKAEQMEKKQHEEFDLSPDQWRKGKKSTFRHVGDDTTRLEIWIHPSHPRSSQGTESGKDSEQENGLGSLSPSDLNKRFILSFLHAHGKLFTRIGMETFPAVAEKVLKEFQVLLQHSPSPIGSTRMLQLMTINMFAVHNSQLKDCFSEECRSVIQEQAAALGLAMFSLLVRRCTCLLKESAKAQLSSPEDQDDQDDIKVSSFVPDLKELLPSVKVWSDWMLGYPDTWNPPPTSLDLPSHVAVDVWSTLADFCNILTAVNQSEVPLYKDPDDDLTLLILEEDRLLSGFVPLLAAPQDPCYVEKTSDKVIAADCKRVTVLKYFLEALCGQEEPLLAFKGGKYVSVAPVPDTMGKEMGSQEGTRLEDEEEDVVIEDFEEDSEAEGSGGEDDIRELRAKKLALARKIAEQQRRQEKIQAVLEDHSQMRQMELEIRPLFLVPDTNGFIDHLASLARLLESRKYILVVPLIVINELDGLAKGQETDHRAGGYARVVQEKARKSIEFLEQRFESRDSCLRALTSRGNELESIAFRSEDITGQLGNNDDLILSCCLHYCKDKAKDFMPASKEEPIRLLREVVLLTDDRNLRVKALTRNVPVRDIPAFLTWAQVG
uniprot
proteins
ec_number
3.1.-.-
uniprot
proteins
function
FUNCTION: Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of chromosome termini (PubMed:19179534). May have a general role in telomere regulation (PubMed:12676087, PubMed:12699629). Promotes in vitro the ability of TERT to elongate telomeres (PubMed:12676087, PubMed:12699629). Overexpression induces telomere uncapping, chromosomal end-to-end fusions (telomeric DNA persists at the fusion points) and did not perturb TRF2 telomeric localization (PubMed:12676087, PubMed:12699629). Binds to the single-stranded 5'-(GTGTGG)(4)GTGT-3' telomeric DNA, but not to a telomerase RNA template component (TER) (PubMed:12676087, PubMed:12699629). {ECO:0000269|PubMed:12676087, ECO:0000269|PubMed:12699629, ECO:0000269|PubMed:19179534}.; FUNCTION: Plays a role in nonsense-mediated mRNA decay (PubMed:17053788, PubMed:18974281, PubMed:19060897, PubMed:20930030). Is thought to provide a link to the mRNA degradation machinery as it has endonuclease activity required to initiate NMD, and to serve as an adapter for UPF1 to protein phosphatase 2A (PP2A), thereby triggering UPF1 dephosphorylation (PubMed:17053788, PubMed:18974281, PubMed:19060897, PubMed:20930030). Degrades single-stranded RNA (ssRNA), but not ssDNA or dsRNA (PubMed:17053788, PubMed:18974281, PubMed:19060897, PubMed:20930030). {ECO:0000269|PubMed:17053788, ECO:0000269|PubMed:18974281, ECO:0000269|PubMed:19060897, ECO:0000269|PubMed:20930030}.
uniprot
proteins
mass_dalton
160462
uniprot
proteins
mutagenesis
MUTAGEN 46..52; /note="RPDLEIY->EPDLEIE: Alters interaction with the EJC. Loss of interaction with the EJC; when associated with 140-E--E-146."; /evidence="ECO:0000269|PubMed:20930030"; MUTAGEN 140..146; /note="KPDLQIY->EPDLQIE: Alters interaction with the EJC. Loss of interaction with the EJC; when associated with 46-E--E-52."; /evidence="ECO:0000269|PubMed:20930030"; MUTAGEN 1251; /note="D->A: Impaired nonsense-mediated RNA decay."; /evidence="ECO:0000269|PubMed:18974281, ECO:0000269|PubMed:19060897"; MUTAGEN 1251; /note="D->N: Loss of endonuclease activity and nonsense-mediated RNA decay; when associated with N-1392."; /evidence="ECO:0000269|PubMed:18974281, ECO:0000269|PubMed:19060897"; MUTAGEN 1353; /note="D->A: Abolishes RNase activity."; /evidence="ECO:0000269|PubMed:17053788, ECO:0000269|PubMed:19060897"; MUTAGEN 1392; /note="D->A: Impaired nonsense-mediated RNA decay; when associated with A-1251."; /evidence="ECO:0000269|PubMed:18974281, ECO:0000269|PubMed:19060897"; MUTAGEN 1392; /note="D->N: Loss of endonuclease activity and nonsense-mediated RNA decay; when associated with N-1251."; /evidence="ECO:0000269|PubMed:18974281, ECO:0000269|PubMed:19060897
uniprot
proteins
pubmed
12168954
uniprot
proteins
pubmed
12554878
uniprot
proteins
pubmed
12676087
uniprot
proteins
pubmed
12699629
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
17053788
uniprot
proteins
pubmed
17557331
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18974281
uniprot
proteins
pubmed
19060897
uniprot
proteins
pubmed
19179534
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20930030
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25220460
uniprot
proteins
pubmed
9872452
uniprot
proteins
sequence_length
1419
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12676087}. Chromosome, telomere {ECO:0000305|PubMed:12699629}. Cytoplasm, cytosol {ECO:0000269|PubMed:12676087}. Note=Particularly enriched in the nucleolus. {ECO:0000269|PubMed:12676087}.
uniprot
proteins