RPL35A Chromosome 3
Ribosomal protein L35a
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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 L35AE family of ribosomal proteins. It is located in the cytoplasm. The rat protein has been shown to bind to both initiator and elongator tRNAs, and thus, it is located at the P site, or P and A sites, of the ribosome. Although this gene was originally mapped to chromosome 18, it has been established that it is located at 3q29-qter. Alternative splicing results in multiple transcript variants. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Oct 2015]
Gene Info
Gene Group
L ribosomal proteins
Locus Type
gene with protein product
Location
3q29
Ensembl
ENSG00000182899
Associated Conditions (3)
Diamond-Blackfan anemia 5
Diamond-Blackfan anemia
RPL35A-related disorder
Key Variants
RS116840807
Conflicting classifications of pathogenicity
Diamond-Blackfan anemia 5, Diamond-Blackfan anemia 5
Health Risk
RS2530415049
Conflicting classifications of pathogenicity
Diamond-Blackfan anemia, Diamond-Blackfan anemia 5, Diamond-Blackfan anemia
Health Risk
RS541454864
Conflicting classifications of pathogenicity
Diamond-Blackfan anemia 5, Diamond-Blackfan anemia, RPL35A-related disorder
Health Risk
RS772084930
Conflicting classifications of pathogenicity
Diamond-Blackfan anemia 5, Diamond-Blackfan anemia 5
Health Risk
RS113752862
Likely pathogenic
Diamond-Blackfan anemia 5, Diamond-Blackfan anemia 5
Health Risk
RS1720051488
Likely pathogenic
Diamond-Blackfan anemia 5, Diamond-Blackfan anemia 5
Health Risk
RS2530430943
Likely pathogenic
Diamond-Blackfan anemia, Diamond-Blackfan anemia
Health Risk
RS116840808
Pathogenic
Diamond-Blackfan anemia 5, Diamond-Blackfan anemia 5
Health Risk
RS116840809
Pathogenic
Diamond-Blackfan anemia 5, Diamond-Blackfan anemia 5
Health Risk
RS1553811551
Pathogenic
Diamond-Blackfan anemia 5, Diamond-Blackfan anemia 5
Health Risk
RS1560120302
Pathogenic
Diamond-Blackfan anemia 5, Diamond-Blackfan anemia, Diamond-Blackfan anemia 5
Health Risk
RS1581106084
Pathogenic
Diamond-Blackfan anemia 5, Diamond-Blackfan anemia 5
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS116840807 | Health Risk | Conflicting classifications of pathogenicity | Diamond-Blackfan anemia 5, Diamond-Blackfan anemia 5 |
| RS2530415049 | Health Risk | Conflicting classifications of pathogenicity | Diamond-Blackfan anemia, Diamond-Blackfan anemia 5, Diamond-Blackfan anemia |
| RS541454864 | Health Risk | Conflicting classifications of pathogenicity | Diamond-Blackfan anemia 5, Diamond-Blackfan anemia, RPL35A-related disorder |
| RS772084930 | Health Risk | Conflicting classifications of pathogenicity | Diamond-Blackfan anemia 5, Diamond-Blackfan anemia 5 |
| RS113752862 | Health Risk | Likely pathogenic | Diamond-Blackfan anemia 5, Diamond-Blackfan anemia 5 |
| RS1720051488 | Health Risk | Likely pathogenic | Diamond-Blackfan anemia 5, Diamond-Blackfan anemia 5 |
| RS2530430943 | Health Risk | Likely pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS116840808 | Health Risk | Pathogenic | Diamond-Blackfan anemia 5, Diamond-Blackfan anemia 5 |
| RS116840809 | Health Risk | Pathogenic | Diamond-Blackfan anemia 5, Diamond-Blackfan anemia 5 |
| RS1553811551 | Health Risk | Pathogenic | Diamond-Blackfan anemia 5, Diamond-Blackfan anemia 5 |
| RS1560120302 | Health Risk | Pathogenic | Diamond-Blackfan anemia 5, Diamond-Blackfan anemia, Diamond-Blackfan anemia 5 |
| RS1581106084 | Health Risk | Pathogenic | Diamond-Blackfan anemia 5, Diamond-Blackfan anemia 5 |
| RS2530415161 | Health Risk | Pathogenic | Diamond-Blackfan anemia 5, Diamond-Blackfan anemia 5 |