SMG6 - SMG6 nonsense mediated mRNA decay factor Gene

Also Known as EST1A; SMG-6; hEST1A; C17orf31; hSMG5/7a

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23293

About SMG6

Cytogenetic location: 17p13.3 Genomic coordinates (GRCh38): 17:2,059,839-2,303,785 (from NCBI)

This gene has 20 transcripts (splice variants) and 198 orthologues. Ubiquitous expression in ovary (RPKM 7.3), testis (RPKM 5.9) and 25 other tissues.

Summary

This gene encodes a component of the Telomerase ribonucleoprotein complex responsible for the replication and maintenance of chromosome ends. The encoded protein also plays a role in the nonsense-mediated mRNA decay (NMD) pathway, providing the Endonuclease activity near the premature translation termination codon that is needed to initiate NMD. Alternatively spliced transcript variants encoding distinct protein isoforms have been described. [provided by RefSeq, Feb 2014]

SMG6 Products (4)

mRNA Protein Name
NM_001256827.2 NP_001243756.1 telomerase-binding protein EST1A isoform 3
NM_001256828.1 NP_001243757.1 telomerase-binding protein EST1A isoform 3
NM_001282326.2 NP_001269255.1 telomerase-binding protein EST1A isoform 4
NM_017575.5 NP_060045.4 telomerase-binding protein EST1A isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables DNA polymerase binding IPI
IPI: Inferred from physical interaction
17940095 GOA
enables RNA binding IPI
IPI: Inferred from physical interaction
17940095 GOA
enables RNA endonuclease activity IDA
IDA: Inferred from direct assay
19060897 GOA
enables RNA endonuclease activity IMP
IMP: Inferred from mutant phenotype
18974281 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12699629 GOA
enables ribonucleoprotein complex binding IPI
IPI: Inferred from physical interaction
12676087 GOA
enables telomerase RNA binding IPI
IPI: Inferred from physical interaction
15857955 GOA
enables telomeric DNA binding IDA
IDA: Inferred from direct assay
12699629 GOA
Biological Process GO Annotation Evidence References Source
involved in negative regulation of telomere capping IDA
IDA: Inferred from direct assay
12676087 GOA
involved in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IMP
IMP: Inferred from mutant phenotype
18974281 GOA
involved in regulation of telomere maintenance IMP
IMP: Inferred from mutant phenotype
12699629 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
14636577 GOA
located in cytosol IDA
IDA: Inferred from direct assay
19060897 GOA
part of exon-exon junction complex IDA
IDA: Inferred from direct assay
20930030 GOA
located in nucleolus IDA
IDA: Inferred from direct assay
12676087 GOA
located in nucleus IDA
IDA: Inferred from direct assay
14636577 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SMG6 Protein Structure

EST1

EST1: Telomerase activating protein Est1 (636 - 744)

EST1_DNA_bind

EST1_DNA_bind: Est1 DNA/RNA binding domain (751 - 1105)

PIN_4

PIN_4: PIN domain (1248 - 1408)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1419 a.a.
Protein Preferred Names Protein Names

telomerase-binding protein EST1A

  • EST1 telomerase component homolog A

SMG6 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SMG6 Q86US8 MEOX2 Homo sapiens Q6FHY5
Y2H Array
32296183
Intra
SMG6 Q86US8 MEOX2 Homo sapiens Q6FHY5
Y2H Prey Pooling
32296183
Intra
SMG6 Q86US8 LAMP2 Homo sapiens P13473-2
Validated Y2H
32814053
Intra
SMG6 Q86US8 LAMP2 Homo sapiens P13473-2
Y2H Pooling
32814053
Intra
SMG6 Q86US8 LAMP2 Homo sapiens P13473-2
Y2H Array
32814053
Intra
SMG6 Q86US8 RAN Homo sapiens P62826
Validated Y2H
32814053
Intra
SMG6 Q86US8 RAN Homo sapiens P62826
Y2H Array
32814053
Intra
SMG6 Q86US8 RAN Homo sapiens P62826
Y2H Pooling
32814053
Intra
SMG6 Q86US8 UPF1 Homo sapiens Q92900-2
Anti Tag CoIP
21145460
Intra
SMG6 Q86US8 HIP1 Homo sapiens O00291
Y2H Pooling
32814053
Intra
SMG6 Q86US8 HIP1 Homo sapiens O00291
Validated Y2H
32814053
Intra
SMG6 Q86US8 HIP1 Homo sapiens O00291
Y2H Array
32814053
Intra
SMG6 Q86US8 PRPF40A Homo sapiens O75400-2
Y2H Array
32814053
Intra
SMG6 Q86US8 PRPF40A Homo sapiens O75400-2
Y2H Pooling
32814053
Intra
SMG6 Q86US8 PRPF40A Homo sapiens O75400-2
Validated Y2H
32814053
Intra
SMG6 Q86US8 CASP6 Homo sapiens P55212
Y2H Pooling
32814053
Intra
SMG6 Q86US8 CASP6 Homo sapiens P55212
Validated Y2H
32814053
Intra
SMG6 Q86US8 CASP6 Homo sapiens P55212
Y2H Array
32814053
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Pancreatic Adenosquamous Carcinoma

  • Adenosquamous Carcinoma Of Pancreas

  • Adenosquamous Carcinoma Of The Pancreas
Lissencephaly

  • Pachygyria

  • Broad Gyri Of Cerebrum

  • Large Gyri Of Cerebrum

  • Macrogyria
Metaphyseal Chondrodysplasia, Schmid Type

  • MCDS

  • Schmid Metaphyseal Chondrodysplasia

  • Metaphyseal Chondrodysplasia Schmid Type

  • Spondylometaphyseal Dysplasia, Japanese Type

  • Japanese Type Spondylometaphyseal Dysplasia

  • Schmid Type Metaphyseal Dysplasia

  • Metaphyseal Chondrodysplasia Type Schmid

  • Schmid Type Metaphyseal Chondrodysplasia

  • SMCD

  • Chondrodysplasia, Metaphyseal, Schmid Type

  • Corneal Dystrophy, Subepithelial Mucinous
Miller-Dieker Lissencephaly Syndrome

  • Miller-Dieker Syndrome

  • Mds

  • MDLS

  • Miller Dieker Syndrome

  • Classical Lissencephaly Syndrome

  • Lissencephaly Due To 17p13.3 Deletion

  • Monosomy 17p13.3

  • Telomeric Deletion 17p

  • Classical Lissencephaly
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS13432 SMG6 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus SMG6 RGD RGD:1595918
Canis familiaris SMG6 VGNC VGNC:46556
Bos taurus SMG6 VGNC VGNC:35011
Felis catus SMG6 VGNC VGNC:65488
Mus musculus SMG6 MGD MGI:2144117
Macaca mulatta SMG6 VGNC VGNC:99262
Others SMG6 NCBI