SMG5 - SMG5 nonsense mediated mRNA decay factor Gene

Also Known as EST1B; SMG-5; LPTSRP1; LPTS-RP1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23381

About SMG5

Cytogenetic location: 1q22 Genomic coordinates (GRCh38): 1:156,249,224-156,291,516 (from NCBI)

This gene has 5 transcripts (splice variants), 209 orthologues and 1 paralogue. Ubiquitous expression in heart (RPKM 16.7), testis (RPKM 16.4) and 25 other tissues.

Summary

SMG5 is involved in nonsense-mediated mRNA decay (Ohnishi et al., 2003 [PubMed 14636577]).[supplied by OMIM, Mar 2008]

SMG5 Products (5)

mRNA Protein Name
NM_001323614.2 NP_001310543.1 nonsense-mediated mRNA decay factor SMG5 isoform 2
NM_001323615.2 NP_001310544.1 nonsense-mediated mRNA decay factor SMG5 isoform 3
NM_001323616.2 NP_001310545.1 nonsense-mediated mRNA decay factor SMG5 isoform 4
NM_001323617.2 NP_001310546.1 nonsense-mediated mRNA decay factor SMG5 isoform 4
NM_015327.3 NP_056142.2 nonsense-mediated mRNA decay factor SMG5 isoform 1
Molecular Function GO Annotation Evidence References Source
enables histone deacetylase binding IPI
IPI: Inferred from physical interaction
16809764 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12699629 GOA
enables protein phosphatase 2A binding IDA
IDA: Inferred from direct assay
14636577 GOA
enables telomerase RNA binding IPI
IPI: Inferred from physical interaction
15857955 GOA
enables telomeric DNA binding IDA
IDA: Inferred from direct assay
17916692 GOA
enables ubiquitin protein ligase binding IPI
IPI: Inferred from physical interaction
16809764 GOA
Biological Process GO Annotation Evidence References Source
involved in regulation of dephosphorylation IMP
IMP: Inferred from mutant phenotype
14636577 GOA
involved in regulation of telomere maintenance IMP
IMP: Inferred from mutant phenotype
16809764 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

SMG5 Protein Structure

EST1

EST1: Telomerase activating protein Est1 (75 - 189)

EST1_DNA_bind

EST1_DNA_bind: Est1 DNA/RNA binding domain (197 - 414)

EST1_DNA_bind

EST1_DNA_bind: Est1 DNA/RNA binding domain (647 - 744)

PIN_4

PIN_4: PIN domain (857 - 941)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1016 a.a.
Protein Preferred Names Protein Names

nonsense-mediated mRNA decay factor SMG5

  • EST1 telomerase component homolog B

SMG5 Protein-protein interaction Information

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

Related Diseases

Diseases Alias
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

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
Felis catus SMG5 VGNC VGNC:65487
Macaca mulatta SMG5 VGNC VGNC:77768
Mus musculus SMG5 MGD MGI:2447364
Bos taurus SMG5 VGNC VGNC:55683
Canis familiaris SMG5 VGNC VGNC:46555
Rattus norvegicus SMG5 RGD RGD:1584731
Others SMG5 NCBI