RPL5 Chromosome 1

Ribosomal protein L5
83 variants 83 Health Risk

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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
RS1064796479 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS11540833 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS11540836 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia, Diamond-Blackfan anemia 6, Diamond-Blackfan anemia
RS1336022942 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia 6, Diamond-Blackfan anemia 6
RS145058455 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia 6, Diamond-Blackfan anemia, Acute myeloid leukemia
RS200075817 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia 6, Diamond-Blackfan anemia, Diamond-Blackfan anemia 6
RS2524440290 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2524447810 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia, Diamond-Blackfan anemia 6, Diamond-Blackfan anemia
RS370284124 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia, Diamond-Blackfan anemia 6, Diamond-Blackfan anemia
RS376414614 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia 6, Diamond-Blackfan anemia, Diamond-Blackfan anemia 6
RS576330538 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia 6, Diamond-Blackfan anemia, Diamond-Blackfan anemia 6
RS1394064043 Health Risk Likely pathogenic Diamond-Blackfan anemia 6, Glioma susceptibility 1, Diamond-Blackfan anemia 6
RS1553284965 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1686989669 Health Risk Likely pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS1687004626 Health Risk Likely pathogenic Diamond-Blackfan anemia 6, Diamond-Blackfan anemia 6
RS2100676852 Health Risk Likely pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2100676956 Health Risk Likely pathogenic See cases, See cases
RS2100676969 Health Risk Likely pathogenic Diamond-Blackfan anemia 6, Diamond-Blackfan anemia 6
RS2100685045 Health Risk Likely pathogenic
RS2100688414 Health Risk Likely pathogenic Diamond-Blackfan anemia 6, Diamond-Blackfan anemia 6
RS2100697037 Health Risk Likely pathogenic
RS2524447545 Health Risk Likely pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia 6, Diamond-Blackfan anemia
RS2524448221 Health Risk Likely pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2524448298 Health Risk Likely pathogenic RPL5-related disorder, RPL5-related disorder
RS2524458087 Health Risk Likely pathogenic Diamond-Blackfan anemia 6, Diamond-Blackfan anemia 6
RS878854146 Health Risk Likely pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS1060503527 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS1064793686 Health Risk Pathogenic
RS1190811369 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS121434405 Health Risk Pathogenic Diamond-Blackfan anemia 6, Diamond-Blackfan anemia, Diamond-Blackfan anemia 6
RS138710531 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS142156224 Health Risk Pathogenic Diamond-Blackfan anemia 6, Diamond-Blackfan anemia 6
RS1481353859 Health Risk Pathogenic
RS148673599 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS1553121909 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS1558283792 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS1558283853 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS1558284033 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia 1, Diamond-Blackfan anemia 6
RS1558284062 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS1571024385 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS1571024430 Health Risk Pathogenic Diamond-Blackfan anemia 6, Diamond-Blackfan anemia, Diamond-Blackfan anemia 6
RS1571026775 Health Risk Pathogenic Diamond-Blackfan anemia 6, Diamond-Blackfan anemia 6
RS1571032029 Health Risk Pathogenic Diamond-Blackfan anemia 6, Diamond-Blackfan anemia 6
RS1686990557 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS1686990676 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS1686991727 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1687054029 Health Risk Pathogenic Diamond-Blackfan anemia 6, Diamond-Blackfan anemia 6
RS1687123286 Health Risk Pathogenic Diamond-Blackfan anemia 6, Diamond-Blackfan anemia 6
RS1687178005 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2100672432 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
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