Gene: RBBP5

Alternate names for this Gene: RBQ3|SWD1

Gene Summary: This gene encodes a ubiquitously expressed nuclear protein which belongs to a highly conserved subfamily of WD-repeat proteins. The encoded protein binds directly to retinoblastoma protein, which regulates cell proliferation. It interacts preferentially with the underphosphorylated retinoblastoma protein via the E1A-binding pocket B. Three alternatively spliced transcript variants that encode different protein isoforms have been described for this gene.

Gene is located in Chromosome: 1

Location in Chromosome : 1q32.1

Description of this Gene: RB binding protein 5, histone lysine methyltransferase complex subunit

Type of Gene: protein-coding

rs10158848 in RBBP5 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.