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UniProt functional annotation for P62081 | ||
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| UniProt code: P62081. |
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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 rRNA maturation. {ECO:0000269|PubMed:19061985}. |
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| Subunit: | |
Binds IPO9 with high affinity (PubMed:11823430). Interacts with NEK6 (PubMed:20873783). Interacts with DESI2 (PubMed:28483520). {ECO:0000269|PubMed:11823430, ECO:0000269|PubMed:20873783, ECO:0000269|PubMed:28483520}. |
| Subcellular location: | |
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:20873783}. Note=Colocalizes with NEK6 in the centrosome. {ECO:0000269|PubMed:20873783}. |
| Ptm: | |
Phosphorylated by NEK6. {ECO:0000269|PubMed:20873783}. |
| Ptm: | |
Ubiquitinated. Deubiquitinated by DESI2, leading to its stabilization. {ECO:0000269|PubMed:28483520}. |
| Disease: | |
Diamond-Blackfan anemia 8 (DBA8) [MIM:612563]: 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 malignancy. 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:19061985}. Note=The disease is caused by variants affecting the gene represented in this entry. |
| Similarity: | |
Belongs to the eukaryotic ribosomal protein eS7 family. {ECO:0000305}. |
Annotations taken from UniProtKB at the EBI.