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UniProt functional annotation for P39019 | ||
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| UniProt code: P39019. |
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| Organism: | |
Homo sapiens (Human). |
| Taxonomy: | |
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. |
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| Function: | |
Required for pre-rRNA processing and maturation of 40S ribosomal subunits. {ECO:0000269|PubMed:16990592}. |
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| Subunit: | |
Interacts with RPS19BP1. {ECO:0000250}. |
| Subcellular location: | |
Nucleus {ECO:0000269|PubMed:12586610, ECO:0000269|PubMed:17517689}. Note=Located more specifically in the nucleoli. |
| Tissue specificity: | |
Higher level expression is seen in the colon carcinoma tissue than normal colon tissue. |
| Disease: | |
Diamond-Blackfan anemia 1 (DBA1) [MIM:105650]: A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of developing leukemia. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre- Robin syndrome and cleft palate), thumb and urogenital anomalies. {ECO:0000269|PubMed:10590074, ECO:0000269|PubMed:11112378, ECO:0000269|PubMed:12586610, ECO:0000269|PubMed:12750732, ECO:0000269|PubMed:15384984, ECO:0000269|PubMed:17517689, ECO:0000269|PubMed:18412286, ECO:0000269|PubMed:9988267, ECO:0000269|Ref.24}. Note=The disease is caused by variants affecting the gene represented in this entry. |
| Similarity: | |
Belongs to the eukaryotic ribosomal protein eS19 family. {ECO:0000305}. |
Annotations taken from UniProtKB at the EBI.