SMG7 - SMG7 nonsense mediated mRNA decay factor Gene

Also Known as EST1C; SGA56M; C1orf16

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9887

About SMG7

Cytogenetic location: 1q25.3 Genomic coordinates (GRCh38): 1:183,472,499-183,554,191 (from NCBI)

This gene has 16 transcripts (splice variants), 203 orthologues and 1 paralogue. Ubiquitous expression in testis (RPKM 30.4), bone marrow (RPKM 12.9) and 25 other tissues.

Summary

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 this protein along with proteins SMG5 and UPF1. The N-terminal domain of this protein is thought to mediate its association with SMG5 or UPF1 while the C-terminal domain interacts with the mRNA decay complex. This protein may therefore couple changes in UPF1 phosphorylation state to the degradation of NMD-candidate transcripts. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2011]

SMG7 Products (25)

mRNA Protein Name
NM_001174061.2 NP_001167532.1 nonsense-mediated mRNA decay factor SMG7 isoform 5
NM_001331007.2 NP_001317936.1 nonsense-mediated mRNA decay factor SMG7 isoform 6
NM_001350219.2 NP_001337148.1 nonsense-mediated mRNA decay factor SMG7 isoform 7
NM_001350220.2 NP_001337149.1 nonsense-mediated mRNA decay factor SMG7 isoform 8
NM_001350221.2 NP_001337150.1 nonsense-mediated mRNA decay factor SMG7 isoform 6
NM_001375584.1 NP_001362513.1 nonsense-mediated mRNA decay factor SMG7 isoform 10
NM_001375585.1 NP_001362514.1 nonsense-mediated mRNA decay factor SMG7 isoform 11
NM_001394133.1 NP_001381062.1 nonsense-mediated mRNA decay factor SMG7 isoform 8
NM_001394134.1 NP_001381063.1 nonsense-mediated mRNA decay factor SMG7 isoform 12
NM_001394135.1 NP_001381064.1 nonsense-mediated mRNA decay factor SMG7 isoform 12
NM_001394136.1 NP_001381065.1 nonsense-mediated mRNA decay factor SMG7 isoform 12
NM_001394137.1 NP_001381066.1 nonsense-mediated mRNA decay factor SMG7 isoform 5
NM_001394138.1 NP_001381067.1 nonsense-mediated mRNA decay factor SMG7 isoform 7
NM_001394139.1 NP_001381068.1 nonsense-mediated mRNA decay factor SMG7 isoform 7
NM_001394140.1 NP_001381069.1 nonsense-mediated mRNA decay factor SMG7 isoform 13
NM_001394141.1 NP_001381070.1 nonsense-mediated mRNA decay factor SMG7 isoform 14
NM_001394142.1 NP_001381071.1 nonsense-mediated mRNA decay factor SMG7 isoform 15
NM_001394143.1 NP_001381072.1 nonsense-mediated mRNA decay factor SMG7 isoform 15
NM_001394144.1 NP_001381073.1 nonsense-mediated mRNA decay factor SMG7 isoform 16
NM_001394145.1 NP_001381074.1 nonsense-mediated mRNA decay factor SMG7 isoform 17
NM_001394146.1 NP_001381075.1 nonsense-mediated mRNA decay factor SMG7 isoform 17
NM_001394147.1 NP_001381076.1 nonsense-mediated mRNA decay factor SMG7 isoform 18
NM_173156.3 NP_775179.1 nonsense-mediated mRNA decay factor SMG7 isoform 1
NM_201568.3 NP_963862.1 nonsense-mediated mRNA decay factor SMG7 isoform 2
NM_201569.3 NP_963863.2 nonsense-mediated mRNA decay factor SMG7 isoform 4
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
14636577 GOA
enables protein phosphatase 2A binding IDA
IDA: Inferred from direct assay
14636577 GOA
enables telomeric DNA binding IDA
IDA: Inferred from direct assay
17916692 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
14636577 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

SMG7 Protein Structure

EST1

EST1: Telomerase activating protein Est1 (54 - 170)

EST1_DNA_bind

EST1_DNA_bind: Est1 DNA/RNA binding domain (171 - 430)

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  • 1137 a.a.
Protein Preferred Names Protein Names

nonsense-mediated mRNA decay factor SMG7

  • EST1 telomerase component homolog C

SMG7 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SMG7 Q92540 SMG5 Homo sapiens Q9UPR3 23348841
Intra
SMG7 Q92540 UPF1 Homo sapiens Q92900 23348841
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Pancreatic Adenosquamous Carcinoma
  • Adenosquamous Carcinoma Of Pancreas

  • Adenosquamous Carcinoma Of The Pancreas

Murray Valley Encephalitis
  • Australian Encephalitis

  • Australian X Disease

  • Encephalitis Australia

  • Murray River Encephalitis

  • Australian Arboencephalitis

  • Australian X Disorder

  • Mve - [Murray Valley Encephalitis]

Breast Cancer
  • Breast Carcinoma

  • Male Breast Cancer

  • Breast Cancer, Familial

  • Malignant Neoplasm Of Breast

  • Breast Cancer, Susceptibility To

  • Breast Cancer, Early-Onset

  • Malignant Tumor Of Breast

  • Carcinoma Of Male Breast

  • Breast Cancer, Invasive Ductal

  • Breast Cancer, Protection Against

  • Breast Cancer, Somatic

  • Breast Cancer, Male

  • Breast Cancer, Lobular, Somatic

  • Breast Tumor

  • Mammary Cancer

  • Mammary Tumor

  • Malignant Neoplasm Of Male Breast

  • Mammary Carcinoma

  • Male Breast Carcinoma

  • Familial Cancer Of Breast

  • Invasive Ductal Breast Carcinoma

  • Breast Cancer Susceptibility

  • Breast Cancer, Male, Susceptibility To

  • Breast Cancer, Early-Onset, Susceptibility To

  • Malignant Tumor Of The Breast

  • Mammary Neoplasm

  • Primary Breast Cancer

  • Neoplasm Of Male Breast

  • Carcinoma Of Breast

  • Breast Cancer In Men

  • Familial Breast Cancer

  • Cancer Of Breast

  • BC

  • Breast Cancer Familial

  • Breast Cancer Familial Male

  • Breast Cancer, Familial Male

  • Breast Male Carcinoma

  • Breast Neoplasms

  • Breast Neoplasms, Male

  • Mammary Tumors

  • Mammary Carcinomas

  • Cancer, Breast

  • Cancer, Breast, Susceptibility

  • Invasive Breast Ductal Carcinoma

  • Breast Neoplasm

  • Susceptibility To Breast Cancer

  • Mammary Neoplasms

  • Animal Mammary Neoplasms

  • Primary Malignant Neoplasm Of Breast

  • Infiltrating Ductal Carcinoma Of Breast

  • Infiltrating Duct Carcinoma Of Unspecified Site

  • Infiltrating Ductular Carcinoma Of Unspecified Site

  • Invasive Breast Carcinoma Of No Special Type

  • Microinvasive Carcinoma Of Breast

  • Carcinoma With Apocrine Differentiation

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

Orthologs Information

Species Symbol Source ID
Canis familiaris SMG7 VGNC VGNC:46557
Felis catus SMG7 VGNC VGNC:65489
Macaca mulatta SMG7 VGNC VGNC:77725
Rattus norvegicus SMG7 RGD RGD:1310761
Mus musculus SMG7 MGD MGI:2682334
Bos taurus SMG7 VGNC VGNC:35012
Others SMG7 NCBI