RBCC Red Blood Cell Collection

RL11_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: RPL11
Protein names and data: RL11_HUMAN , 60S ribosomal protein L11 , CLL-associated antigen KW-12 Lenght: 178 a.a.
Mass: 20252 Da
fasta formatted sequence
Function: Binds to 5S ribosomal RNA (By similarity). Required for rRNA maturation and formation of the 60S ribosomal subunits. Promotes nucleolar location of PML (By similarity).
Disease: ( OMIM: 604175 612562 ) Diamond-Blackfan anemia 7 (DBA7) [MIM:612562]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Nucleus, nucleolus (By similarity).

Genetic variants

20 - 20 L -> H (in DBA7). VAR_055448
161 - 161 Missing (in DBA7). VAR_055449

Database cross-references

UniProt: P62913
Ensembl: ENST00000374550
MIM: 604175
MIM: 612562
neXtProt: NX_P62913
Antibodypedia: P62913 (may not find the protein thus also not any antibody)
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