RPL11 Chromosome 1
Ribosomal protein L11
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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 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L5P family of ribosomal proteins. It is located in the cytoplasm. The protein probably associates with the 5S rRNA. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Dec 2010]
Gene Info
Gene Group
L ribosomal proteins
Locus Type
gene with protein product
Location
1p36.11
Ensembl
ENSG00000142676
Associated Conditions (6)
Diamond-Blackfan anemia
Diamond-Blackfan anemia 7
Hepatocellular carcinoma
Anemia
Reticulocytopenia
RPL11-related disorder
Key Variants
RS1361739260
Conflicting classifications of pathogenicity
Diamond-Blackfan anemia, Diamond-Blackfan anemia 7, Diamond-Blackfan anemia
Health Risk
RS1553121852
Conflicting classifications of pathogenicity
Diamond-Blackfan anemia, Diamond-Blackfan anemia 7, Diamond-Blackfan anemia
Health Risk
RS201786327
Conflicting classifications of pathogenicity
Diamond-Blackfan anemia, Diamond-Blackfan anemia 7, Diamond-Blackfan anemia
Health Risk
RS2523398326
Conflicting classifications of pathogenicity
Diamond-Blackfan anemia 7, Diamond-Blackfan anemia 7
Health Risk
RS2523404169
Conflicting classifications of pathogenicity
Diamond-Blackfan anemia, Diamond-Blackfan anemia 7, Hepatocellular carcinoma
Health Risk
RS768654673
Conflicting classifications of pathogenicity
Diamond-Blackfan anemia 7, Diamond-Blackfan anemia, Diamond-Blackfan anemia
Health Risk
RS773406981
Conflicting classifications of pathogenicity
Diamond-Blackfan anemia, Diamond-Blackfan anemia
Health Risk
RS777041270
Conflicting classifications of pathogenicity
Diamond-Blackfan anemia 7, Diamond-Blackfan anemia, Diamond-Blackfan anemia 7
Health Risk
RS886046309
Conflicting classifications of pathogenicity
Diamond-Blackfan anemia 7, Diamond-Blackfan anemia, Diamond-Blackfan anemia 7
Health Risk
RS1553121795
Likely pathogenic
Diamond-Blackfan anemia, Diamond-Blackfan anemia
Health Risk
RS1570566714
Likely pathogenic
Anemia, Reticulocytopenia, Anemia
Health Risk
RS2124429146
Likely pathogenic
Diamond-Blackfan anemia, Diamond-Blackfan anemia
Health Risk
All Variants (45)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1361739260 | Health Risk | Conflicting classifications of pathogenicity | Diamond-Blackfan anemia, Diamond-Blackfan anemia 7, Diamond-Blackfan anemia |
| RS1553121852 | Health Risk | Conflicting classifications of pathogenicity | Diamond-Blackfan anemia, Diamond-Blackfan anemia 7, Diamond-Blackfan anemia |
| RS201786327 | Health Risk | Conflicting classifications of pathogenicity | Diamond-Blackfan anemia, Diamond-Blackfan anemia 7, Diamond-Blackfan anemia |
| RS2523398326 | Health Risk | Conflicting classifications of pathogenicity | Diamond-Blackfan anemia 7, Diamond-Blackfan anemia 7 |
| RS2523404169 | Health Risk | Conflicting classifications of pathogenicity | Diamond-Blackfan anemia, Diamond-Blackfan anemia 7, Hepatocellular carcinoma |
| RS768654673 | Health Risk | Conflicting classifications of pathogenicity | Diamond-Blackfan anemia 7, Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS773406981 | Health Risk | Conflicting classifications of pathogenicity | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS777041270 | Health Risk | Conflicting classifications of pathogenicity | Diamond-Blackfan anemia 7, Diamond-Blackfan anemia, Diamond-Blackfan anemia 7 |
| RS886046309 | Health Risk | Conflicting classifications of pathogenicity | Diamond-Blackfan anemia 7, Diamond-Blackfan anemia, Diamond-Blackfan anemia 7 |
| RS1553121795 | Health Risk | Likely pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS1570566714 | Health Risk | Likely pathogenic | Anemia, Reticulocytopenia, Anemia |
| RS2124429146 | Health Risk | Likely pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS2124430919 | Health Risk | Likely pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS2124432051 | Health Risk | Likely pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS2523403053 | Health Risk | Likely pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS2523404237 | Health Risk | Likely pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS121434389 | Health Risk | Pathogenic | Diamond-Blackfan anemia 7, Diamond-Blackfan anemia, Diamond-Blackfan anemia 7 |
| RS151155897 | Health Risk | Pathogenic | Diamond-Blackfan anemia 7, Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS1553121678 | Health Risk | Pathogenic | Diamond-Blackfan anemia 7, Diamond-Blackfan anemia 7 |
| RS1553121684 | Health Risk | Pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS1553121689 | Health Risk | Pathogenic | Diamond-Blackfan anemia 7, Diamond-Blackfan anemia 7 |
| RS1570566590 | Health Risk | Pathogenic | Diamond-Blackfan anemia 7, Diamond-Blackfan anemia, RPL11-related disorder |
| RS1570566592 | Health Risk | Pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS1570569383 | Health Risk | Pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS1644516691 | Health Risk | Pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS2124429127 | Health Risk | Pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS2124429140 | Health Risk | Pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS2124429183 | Health Risk | Pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS2523391493 | Health Risk | Pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia 7, Diamond-Blackfan anemia |
| RS2523394868 | Health Risk | Pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS2523395096 | Health Risk | Pathogenic | Diamond-Blackfan anemia 7, Diamond-Blackfan anemia 7 |
| RS2523395100 | Health Risk | Pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS2523395104 | Health Risk | Pathogenic | Diamond-Blackfan anemia 7, Diamond-Blackfan anemia 7 |
| RS2523395112 | Health Risk | Pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS2523395126 | Health Risk | Pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS2523395201 | Health Risk | Pathogenic | Diamond-Blackfan anemia 7, Diamond-Blackfan anemia 7 |
| RS2523398100 | Health Risk | Pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS2523400044 | Health Risk | Pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS2523400065 | Health Risk | Pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS2523400088 | Health Risk | Pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS2523400126 | Health Risk | Pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS587777119 | Health Risk | Pathogenic | Diamond-Blackfan anemia 7, Diamond-Blackfan anemia 7 |
| RS587777120 | Health Risk | Pathogenic | Diamond-Blackfan anemia 7, Diamond-Blackfan anemia 7 |
| RS886041528 | Health Risk | Pathogenic | — |
| RS1644530053 | Health Risk | Pathogenic/Likely pathogenic | Diamond-Blackfan anemia 7, Diamond-Blackfan anemia, Diamond-Blackfan anemia 7 |