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
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
rs1558284033 in
DIPK1A;RPL5 gene and
Anemia, Diamond-Blackfan
PMID 19773262 2010 Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations.
PMID 19061985 2008 Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.
PMID 23718193 2013 Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia.