| Gene Symbol |
SMG6
|
| Entrez Gene |
23293
|
| Alt Symbol |
C17orf31, EST1A, SMG-6, hSMG5/7a
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
SMG6 nonsense mediated mRNA decay factor
|
| Other Description |
EST1 telomerase component homolog A|ever shorter telomeres 1A|smg-6 homolog, nonsense mediated mRNA decay factor|telomerase subunit EST1A|telomerase-binding protein EST1A
|
| Swissprots |
Q86VH6 B7Z874 Q86US8 Q9UF60 O94837
|
| Accessions |
CAH05610 EAW90557 EAW90559 Q86US8 AB018275 BAA34452 AK024131 BAB14835 AK074270 AK093007 AK302964 BAH13860 AL080204 AL133597 CAB63733 AU120859 AY145883 AAN46114 AY168921 AAO17581 BC064916 AAH64916 BC148373 AAI48374 DB333407 XM_005256569 XP_005256626 XM_005256570 XP_005256627 XM_005256571 XP_005256628 XM_006721494 XP_006721557 XM_006721495 XP_006721558 XM_011523769 XP_011522071 XM_011523770 XP_011522072 XM_011523771 XP_011522073 XM_011523772 XP_011522074 XM_011523773 XP_011522075 XM_011523774 XP_011522076 XM_011523775 XP_011522077 NM_001256827 NP_001243756 NM_001256828 NP_001243757 NM_001282326 NP_001269255 NM_017575 NP_060045 NM_001170957
|
| Function |
Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of chromosome termini. May have a general role in telomere regulation. Promotes in vitro the ability of TERT to elongate telomeres. Overexpression induces telomere uncapping, chromosomal end-to-end fusions (telomeric DNA persists at the fusion points) and did not perturb TRF2 telomeric localization. Binds to the single-stranded 5'- (GTGTGG)(4)GTGT-3' telomeric DNA, but not to a telomerase RNA template component (TER).
|
| Subcellular Location |
Nucleus, nucleolus. Chromosome, telomere {ECO:0000305}. Cytoplasm, cytosol. Note=Particularly enriched in the nucleolus.
|
| Tissue Specificity |
Ubiquitous. {ECO:0000269|PubMed:12676087, ECO:0000269|PubMed:12699629}.
|
| Top Pathways |
mRNA surveillance pathway
|