Enter Gene or Traits or Disease

Gene: A1CF

Alternate names for this Gene: ACF|ACF64|ACF65|APOBEC1CF|ASP

Gene Summary: Mammalian apolipoprotein B mRNA undergoes site-specific C to U deamination, which is mediated by a multi-component enzyme complex containing a minimal core composed of APOBEC-1 and a complementation factor encoded by this gene. The gene product has three non-identical RNA recognition motifs and belongs to the hnRNP R family of RNA-binding proteins. It has been proposed that this complementation factor functions as an RNA-binding subunit and docks APOBEC-1 to deaminate the upstream cytidine. Studies suggest that the protein may also be involved in other RNA editing or RNA processing events. Several transcript variants encoding a few different isoforms have been found for this gene.

Gene is located in Chromosome: 10

Location in Chromosome : 10q11.23

Description of this Gene: APOBEC1 complementation factor

Type of Gene: protein-coding

rs10821871 in A1CF gene and Arthritis, Gouty PMID 23263486 2013 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

rs10994856 in A1CF gene and Creatinine measurement, serum (procedure) PMID 28452372 2017 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.

PMID 26831199 2016 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

rs10821905 in A1CF gene and Glomerular Filtration Rate PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

PMID 31015462 2019 Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.

PMID 28452372 2017 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.

PMID 31451708 2019 Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.

PMID 26831199 2016 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

rs10821871 in A1CF gene and Gout PMID 23263486 2013 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

rs10821871 in A1CF gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs10821905 in A1CF gene and Uric acid measurement (procedure) PMID 23263486 2013 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

PMID 30993211 2019 Genome-wide meta-analysis identifies multiple novel loci associated with serum uric acid levels in Japanese individuals.

PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.