RPL5 Chromosome 1
Ribosomal protein L5
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What This Gene Does
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. [provided by RefSeq, Mar 2017]
Gene Info
Gene Group
"Protein phosphatase 1 regulatory subunits|L ribosomal proteins|Small nucleolar RNA protein coding host genes"
Locus Type
gene with protein product
Location
1p22.1
Ensembl
ENSG00000122406
Associated Conditions (14)
Diamond-Blackfan anemia
Diamond-Blackfan anemia 6
Acute myeloid leukemia
Familial cancer of breast
Uterine corpus endometrial carcinoma
Sarcoma
Thymoma
Lung cancer
Glioma susceptibility 1
Inborn genetic diseases
See cases
RPL5-related disorder
Diamond-Blackfan anemia 1
17 conditions
Key Variants
RS1064796479
Conflicting classifications of pathogenicity
Diamond-Blackfan anemia, Diamond-Blackfan anemia
Health Risk
RS11540833
Conflicting classifications of pathogenicity
Diamond-Blackfan anemia, Diamond-Blackfan anemia
Health Risk
RS11540836
Conflicting classifications of pathogenicity
Diamond-Blackfan anemia, Diamond-Blackfan anemia 6, Diamond-Blackfan anemia
Health Risk
RS1336022942
Conflicting classifications of pathogenicity
Diamond-Blackfan anemia 6, Diamond-Blackfan anemia 6
Health Risk
RS145058455
Conflicting classifications of pathogenicity
Diamond-Blackfan anemia 6, Diamond-Blackfan anemia, Acute myeloid leukemia
Health Risk
RS200075817
Conflicting classifications of pathogenicity
Diamond-Blackfan anemia 6, Diamond-Blackfan anemia, Diamond-Blackfan anemia 6
Health Risk
RS2524440290
Conflicting classifications of pathogenicity
Diamond-Blackfan anemia, Diamond-Blackfan anemia
Health Risk
RS2524447810
Conflicting classifications of pathogenicity
Diamond-Blackfan anemia, Diamond-Blackfan anemia 6, Diamond-Blackfan anemia
Health Risk
RS370284124
Conflicting classifications of pathogenicity
Diamond-Blackfan anemia, Diamond-Blackfan anemia 6, Diamond-Blackfan anemia
Health Risk
RS376414614
Conflicting classifications of pathogenicity
Diamond-Blackfan anemia 6, Diamond-Blackfan anemia, Diamond-Blackfan anemia 6
Health Risk
RS576330538
Conflicting classifications of pathogenicity
Diamond-Blackfan anemia 6, Diamond-Blackfan anemia, Diamond-Blackfan anemia 6
Health Risk
RS1394064043
Likely pathogenic
Diamond-Blackfan anemia 6, Glioma susceptibility 1, Diamond-Blackfan anemia 6
Health Risk
All Variants (83)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2100677043 | Health Risk | Pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS2100685034 | Health Risk | Pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS2100688383 | Health Risk | Pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS2524440255 | Health Risk | Pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS2524447634 | Health Risk | Pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS2524447645 | Health Risk | Pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS2524447710 | Health Risk | Pathogenic | — |
| RS2524447751 | Health Risk | Pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS2524447807 | Health Risk | Pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS2524448276 | Health Risk | Pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS2524448314 | Health Risk | Pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS2524448381 | Health Risk | Pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS2524448571 | Health Risk | Pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS2524452362 | Health Risk | Pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS2524452384 | Health Risk | Pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS2524452489 | Health Risk | Pathogenic | Diamond-Blackfan anemia 6, Diamond-Blackfan anemia 6 |
| RS2524452614 | Health Risk | Pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS2524457676 | Health Risk | Pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS2524458024 | Health Risk | Pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS2524458104 | Health Risk | Pathogenic | — |
| RS2524458159 | Health Risk | Pathogenic | — |
| RS2524462266 | Health Risk | Pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS2524473865 | Health Risk | Pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS587777117 | Health Risk | Pathogenic | Diamond-Blackfan anemia 6, Diamond-Blackfan anemia, Diamond-Blackfan anemia 6 |
| RS587777118 | Health Risk | Pathogenic | Diamond-Blackfan anemia 6, Diamond-Blackfan anemia 6 |
| RS912779029 | Health Risk | Pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS1057520746 | Health Risk | Pathogenic/Likely pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS1553284997 | Health Risk | Pathogenic/Likely pathogenic | 17 conditions, Diamond-Blackfan anemia, 17 conditions |
| RS2100677045 | Health Risk | Pathogenic/Likely pathogenic | Diamond-Blackfan anemia 6, Diamond-Blackfan anemia 6 |
| RS2100685111 | Health Risk | Pathogenic/Likely pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia 6, Diamond-Blackfan anemia |
| RS2524440268 | Health Risk | Pathogenic/Likely pathogenic | Diamond-Blackfan anemia 6, Diamond-Blackfan anemia, Diamond-Blackfan anemia 6 |
| RS2524448581 | Health Risk | Pathogenic/Likely pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia 6, Diamond-Blackfan anemia |
| RS138979590 | Health Risk | risk factor | Diamond-Blackfan anemia 6, Diamond-Blackfan anemia 6 |