Gene: ETF1
Alternate names for this Gene: D5S1995|ERF|ERF1|RF1|SUP45L1|TB3-1
Gene Summary: This gene encodes a class-1 polypeptide chain release factor. The encoded protein plays an essential role in directing termination of mRNA translation from the termination codons UAA, UAG and UGA. This protein is a component of the SURF complex which promotes degradation of prematurely terminated mRNAs via the mechanism of nonsense-mediated mRNA decay (NMD). Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 6, 7, and X.
Gene is located in Chromosome: 5
Location in Chromosome : 5q31.2
Description of this Gene: eukaryotic translation termination factor 1
Type of Gene: protein-coding
rs3849046 in
ETF1 gene and
Child Development Disorders, Pervasive
PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.
rs13155345 in
ETF1 gene and
Red Blood Cell Count measurement
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs13169274 in
ETF1 gene and
Schizophrenia
PMID 29483656 2018 Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.
PMID 25056061 2014 Biological insights from 108 schizophrenia-associated genetic loci.
PMID 30285260 2019 Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect.
PMID 31268507 2019 Association of Schizophrenia Risk With Disordered Niacin Metabolism in an Indian Genome-wide Association Study.
PMID 26198764 2015 Genome-wide association study of schizophrenia in Ashkenazi Jews.
PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.