SMG9 - SMG9 nonsense mediated mRNA decay factor Gene

Also Known as HBMS; NEDITPO; C19orf61; F17127_1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 56006

About SMG9

Cytogenetic location: 19q13.31 Genomic coordinates (GRCh38): 19:43,727,983-43,754,962 (from NCBI)

This gene has 13 transcripts (splice variants), 187 orthologues and is associated with 2 phenotypes. Broad expression in testis (RPKM 13.7), lymph node (RPKM 6.7) and 24 other tissues.

Summary

This gene encodes a regulatory subunit of the SMG1 complex, which plays a critical role in nonsense-mediated mRNA decay (NMD). Binding of the encoded protein to the SMG1 complex kinase scaffold protein results in the inhibition of its kinase activity. Mutations in this gene cause a multiple congenital anomaly syndrome in human patients, characterized by brain malformation, congenital heart disease and Other features. [provided by RefSeq, Jul 2016]

SMG9 Products (1)

mRNA Protein Name
NM_019108.4 NP_061981.2 nonsense-mediated mRNA decay factor SMG9

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables identical protein binding IPI
IPI: Inferred from physical interaction
20817927 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
19417104 GOA
Biological Process GO Annotation Evidence References Source
involved in negative regulation of apoptotic process EXP
EXP: Inferred from Experiment
20817927 GOA
involved in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IMP
IMP: Inferred from mutant phenotype
19417104 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

SMG9 Protein Structure

Smg8_Smg9

Smg8_Smg9: Smg8_Smg9 (202 - 341)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 520 a.a.
Protein Preferred Names Protein Names

nonsense-mediated mRNA decay factor SMG9

  • protein smg-9 homolog

SMG9 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SMG9 Q9H0W8 KRTAP10-8 Homo sapiens P60410
Y2H Prey Pooling
32296183
Intra
SMG9 Q9H0W8 KRTAP10-8 Homo sapiens P60410
Y2H Array
32296183
Intra
SMG9 Q9H0W8 NFKBID Homo sapiens Q8NI38
Y2H Array
32296183
Intra
SMG9 Q9H0W8 NFKBID Homo sapiens Q8NI38
Y2H Prey Pooling
32296183
Intra
SMG9 Q9H0W8 KRT34 Homo sapiens O76011
Y2H Prey Pooling
32296183
Intra
SMG9 Q9H0W8 KRT34 Homo sapiens O76011
Y2H Array
32296183
Intra
SMG9 Q9H0W8 REL Homo sapiens Q04864-2
Y2H Prey Pooling
32296183
Intra
SMG9 Q9H0W8 REL Homo sapiens Q04864-2
Y2H Array
32296183
Intra
SMG9 Q9H0W8 CCDC57 Homo sapiens Q2TAC2-2
Y2H Array
32296183
Intra
SMG9 Q9H0W8 CCDC57 Homo sapiens Q2TAC2-2
Y2H Prey Pooling
32296183
Intra
SMG9 Q9H0W8 PNMA3 Homo sapiens Q9UL41
Y2H Array
32296183
Intra
SMG9 Q9H0W8 PNMA3 Homo sapiens Q9UL41
Y2H Prey Pooling
32296183
Intra
SMG9 Q9H0W8 PNMA3 Homo sapiens Q9UL41
Validated Y2H
32296183
Intra
SMG9 Q9H0W8 MTUS2 Homo sapiens Q5JR59-3
Y2H Array
32296183
Intra
SMG9 Q9H0W8 MTUS2 Homo sapiens Q5JR59-3
Y2H Prey Pooling
32296183
Intra
SMG9 Q9H0W8 AGTRAP Homo sapiens Q6RW13-2
Y2H Array
32296183
Intra
SMG9 Q9H0W8 AGTRAP Homo sapiens Q6RW13-2
Y2H Prey Pooling
32296183
Intra
SMG9 Q9H0W8 CTAG1A Homo sapiens P78358
Y2H Prey Pooling
32296183
Intra
SMG9 Q9H0W8 CTAG1A Homo sapiens P78358
Y2H Array
32296183
Intra
SMG9 Q9H0W8 ZMYND12 Homo sapiens Q9H0C1
Y2H Prey Pooling
32296183
Intra
SMG9 Q9H0W8 ZMYND12 Homo sapiens Q9H0C1
Y2H Array
32296183
Intra
SMG9 Q9H0W8 TSC1 Homo sapiens Q86WV8
Y2H Array
32296183
Intra
SMG9 Q9H0W8 TSC1 Homo sapiens Q86WV8
Y2H Prey Pooling
32296183
Intra
SMG9 Q9H0W8 DGAT2L6 Homo sapiens Q6ZPD8
Y2H Prey Pooling
32296183
Intra
SMG9 Q9H0W8 DGAT2L6 Homo sapiens Q6ZPD8
Y2H Array
32296183
Intra
SMG9 Q9H0W8 GSG1 Homo sapiens Q2KHT4-3
Y2H Prey Pooling
32296183
Intra
SMG9 Q9H0W8 GSG1 Homo sapiens Q2KHT4-3
Y2H Array
32296183
Intra
SMG9 Q9H0W8 TCF4 Homo sapiens P15884-3
Y2H Array
32296183
Intra
SMG9 Q9H0W8 TCF4 Homo sapiens P15884-3
Y2H Prey Pooling
32296183
Intra
SMG9 Q9H0W8 CMTM4 Homo sapiens Q8IZR5-2
Y2H Array
32296183
Intra
SMG9 Q9H0W8 CMTM4 Homo sapiens Q8IZR5-2
Y2H Prey Pooling
32296183
Intra
SMG9 Q9H0W8 PPP2R3C Homo sapiens Q969Q6
Y2H Array
32296183
Intra
SMG9 Q9H0W8 PPP2R3C Homo sapiens Q969Q6
Y2H Prey Pooling
32296183
Intra
SMG9 Q9H0W8 PRKAR1B Homo sapiens P31321
Y2H Prey Pooling
32296183
Intra
SMG9 Q9H0W8 PRKAR1B Homo sapiens P31321
Y2H Array
32296183
Intra
SMG9 Q9H0W8 TRAF2 Homo sapiens Q12933
Y2H Array
32296183
Intra
SMG9 Q9H0W8 SMG1 Homo sapiens Q96Q15
Anti Bait CoIP
19417104
Intra
SMG9 Q9H0W8 SMG1 Homo sapiens Q96Q15
Anti Tag CoIP
26496610
Intra
SMG9 Q9H0W8 TRIM23 Homo sapiens P36406
Y2H Prey Pooling
32296183
Intra
SMG9 Q9H0W8 TRAF2 Homo sapiens Q12933
Y2H Prey Pooling
25416956
Intra
SMG9 Q9H0W8 KRT31 Homo sapiens Q15323
Y2H Prey Pooling
32296183
Intra
SMG9 Q9H0W8 TRIM23 Homo sapiens P36406
Y2H Array
25416956
Intra
SMG9 Q9H0W8 TRAF2 Homo sapiens Q12933
Validated Y2H
25416956
Intra
SMG9 Q9H0W8 TRAF2 Homo sapiens Q12933
Y2H Prey Pooling
32296183
Intra
SMG9 Q9H0W8 TRIM23 Homo sapiens P36406
Y2H Array
32296183
Intra
SMG9 Q9H0W8 KRT31 Homo sapiens Q15323
Y2H Array
25416956
Intra
SMG9 Q9H0W8 TRAF2 Homo sapiens Q12933
Y2H Array
25416956
Intra
SMG9 Q9H0W8 SMG1 Homo sapiens Q96Q15
Pull Down
20817927
Intra
SMG9 Q9H0W8 PFDN5 Homo sapiens Q99471
Y2H Array
32296183
Intra
SMG9 Q9H0W8 PFDN5 Homo sapiens Q99471
Y2H Prey Pooling
32296183
Intra
SMG9 Q9H0W8 SMG8 Homo sapiens Q8ND04
Anti Bait CoIP
19417104
Intra
SMG9 Q9H0W8 SMG8 Homo sapiens Q8ND04
Pull Down
20817927
Intra
SMG9 Q9H0W8 SMG8 Homo sapiens Q8ND04
Anti Tag CoIP
26496610
Intra
SMG9 Q9H0W8 SLC17A9 Homo sapiens Q9BYT1
Y2H Prey Pooling
32296183
Intra
SMG9 Q9H0W8 SLC17A9 Homo sapiens Q9BYT1
Y2H Array
32296183
Intra
SMG9 Q9H0W8 PHF1 Homo sapiens O43189
Y2H Array
32296183
Intra
SMG9 Q9H0W8 PHF1 Homo sapiens O43189
Y2H Prey Pooling
32296183
Intra
SMG9 Q9H0W8 FNTB Homo sapiens P49356
Y2H Prey Pooling
32296183
Intra
SMG9 Q9H0W8 FNTB Homo sapiens P49356
Y2H Array
32296183
Intra
SMG9 Q9H0W8 GOLGA2 Homo sapiens Q08379
Y2H Array
32296183
Intra
SMG9 Q9H0W8 GOLGA2 Homo sapiens Q08379
Y2H Prey Pooling
32296183
Intra
SMG9 Q9H0W8 ZNF655 Homo sapiens Q8N720
Y2H Prey Pooling
32296183
Intra
SMG9 Q9H0W8 ZNF655 Homo sapiens Q8N720
Y2H Array
32296183
Intra
SMG9 Q9H0W8 ARFIP2 Homo sapiens P53365
Y2H Prey Pooling
32296183
Intra
SMG9 Q9H0W8 ARFIP2 Homo sapiens P53365
Y2H Array
32296183
Intra
SMG9 Q9H0W8 INCA1 Homo sapiens Q0VD86
Y2H Prey Pooling
32296183
Intra
SMG9 Q9H0W8 INCA1 Homo sapiens Q0VD86
Y2H Array
32296183
Intra
SMG9 Q9H0W8 RASSF10 Homo sapiens A6NK89
Y2H Array
32296183
Intra
SMG9 Q9H0W8 RASSF10 Homo sapiens A6NK89
Y2H Prey Pooling
32296183
Intra
SMG9 Q9H0W8 HSF2BP Homo sapiens O75031
Y2H Array
32296183
Intra
SMG9 Q9H0W8 HSF2BP Homo sapiens O75031
Y2H Prey Pooling
32296183
Intra
SMG9 Q9H0W8 TRIM27 Homo sapiens P14373
Y2H Prey Pooling
32296183
Intra
SMG9 Q9H0W8 TRIM27 Homo sapiens P14373
Y2H Array
32296183
Intra
SMG9 Q9H0W8 TRIP6 Homo sapiens Q15654
Y2H Prey Pooling
32296183
Intra
SMG9 Q9H0W8 TRIP6 Homo sapiens Q15654
Y2H Array
32296183
Intra
SMG9 Q9H0W8 CEP76 Homo sapiens Q8TAP6
Y2H Array
32296183
Intra
SMG9 Q9H0W8 CEP76 Homo sapiens Q8TAP6
Y2H Prey Pooling
32296183
Intra
SMG9 Q9H0W8 AK8 Homo sapiens Q96MA6
Y2H Prey Pooling
32296183
Intra
SMG9 Q9H0W8 AK8 Homo sapiens Q96MA6
Y2H Array
32296183
Intra
SMG9 Q9H0W8 SLC50A1 Homo sapiens Q9BRV3
Y2H Array
32296183
Intra
SMG9 Q9H0W8 SLC50A1 Homo sapiens Q9BRV3
Y2H Prey Pooling
32296183
Intra
SMG9 Q9H0W8 SYP Homo sapiens P08247
Y2H Prey Pooling
32296183
Intra
SMG9 Q9H0W8 SYP Homo sapiens P08247
Y2H Array
32296183
Intra
SMG9 Q9H0W8 TTC19 Homo sapiens Q6DKK2
Y2H Array
32296183
Intra
SMG9 Q9H0W8 TTC19 Homo sapiens Q6DKK2
Y2H Prey Pooling
32296183
Intra
SMG9 Q9H0W8 PLEKHG4 Homo sapiens Q58EX7
Y2H Prey Pooling
32296183
Intra
SMG9 Q9H0W8 PLEKHG4 Homo sapiens Q58EX7
Y2H Array
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Heart And Brain Malformation Syndrome

  • HBMS

  • Neurodevelopmental Disorder With Heart And Brain Malformations

  • Nedhbm

  • Malformation, Heart And Brain, Syndrome
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies

  • NEDITPO
Pancreatic Adenosquamous Carcinoma

  • Adenosquamous Carcinoma Of Pancreas

  • Adenosquamous Carcinoma Of The Pancreas
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
Microphthalmia

  • Microphthalmos

  • Isolated Anophthalmia-Microphthalmia Syndrome

  • Isolated Microphthalmia-Anophthalmia-Coloboma

  • Simple Microphthalmos

  • Clinical Anophthalmia

  • Isolated Anophthalmia - Microphthalmia

  • Isolated Pure Microphthalmia

  • Mac Spectrum

  • Microphthalmia-Anophthalmia-Coloboma Spectrum

  • Primitive Anophthalmia

  • Globe Of Eye Small

  • Small Eyeball

  • Hypoplasia Of Eye

  • Isolated Nanophthalmos

  • Rudimentary Eye

  • Dysplasia Of Eye
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-RS13435 SMG9 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris SMG9 VGNC VGNC:46558
Mus musculus SMG9 MGD MGI:1919247
Bos taurus SMG9 VGNC VGNC:35013
Rattus norvegicus SMG9 RGD RGD:1309888
Felis catus SMG9 VGNC VGNC:65490
Macaca mulatta SMG9 VGNC VGNC:77775
Others SMG9 NCBI