Gene: RPL5

Alternate names for this Gene: L5|MSTP030|PPP1R135|uL18

Gene Summary: Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L18P family of ribosomal proteins and component of the 60S subunit. The encoded protein binds 5S rRNA to form a stable complex called the 5S ribonucleoprotein particle (RNP), which is necessary for the transport of nonribosome-associated cytoplasmic 5S rRNA to the nucleolus for assembly into ribosomes. The encoded protein may also function to inhibit tumorigenesis through the activation of downstream tumor suppressors and the downregulation of oncoprotein expression. Mutations in this gene have been identified in patients with Diamond-Blackfan Anemia (DBA). This gene is co-transcribed with the small nucleolar RNA gene U21, which is located in its fifth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome.

Gene is located in Chromosome: 1

Location in Chromosome : 1p22.1

Description of this Gene: ribosomal protein L5

Type of Gene: protein-coding

Gene: SNORA66

Alternate names for this Gene: RNU66|U66

Gene Summary: This gene encodes a non-coding RNA that functions in the biogenesis of other small nuclear RNAs. This RNA is found in the nucleolus, where it may be involved in the pseudouridylation of 18S ribosomal RNA. This RNA is found associated with the GAR1 protein.

Gene is located in Chromosome: 1

Location in Chromosome : 1p22.1

Description of this Gene: small nucleolar RNA, H/ACA box 66

Type of Gene: snoRNA

Gene: DIPK1A

Alternate names for this Gene: FAM69A

Gene Summary: This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Gene is located in Chromosome: 1

Location in Chromosome : 1p22.1

Description of this Gene: divergent protein kinase domain 1A

Type of Gene: protein-coding

rs189162117 in RPL5;SNORA66;DIPK1A gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.