| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
FUNCTION: Required for rRNA maturation and formation of the 60S ribosomal subunits. This protein binds 5S RNA. SUBCELLULAR LOCATION: Cytoplasm. Nucleus, nucleolus. DISEASE: Defects in RPL5 are the cause of Diamond-Blackfan anemia type 6 (DBA6) [MIM:612561]. DBA6 is 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. SIMILARITY: Belongs to the ribosomal protein L18P family. WEB RESOURCE: Name=Diamond-Blackfan Anemia mutation database; URL="http://www.dbagenes.unito.it/home.php?select_db=RPL5"; GENE SYNONYMS:RPL5. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 297 AA; 34363 MW; 07CA9FBA842BD2A3 CRC64;
|
| biopax3:xref |
urn:biopax:RelationshipXref:HGNC_HGNC:10360,
urn:biopax:RelationshipXref:NCBI GENE_6125,
urn:biopax:RelationshipXref:REFSEQ_NP_000960,
urn:biopax:UnificationXref:UNIPROT_P46777,
urn:biopax:UnificationXref:UNIPROT_Q32LZ3,
urn:biopax:UnificationXref:UNIPROT_Q53HH6,
urn:biopax:UnificationXref:UNIPROT_Q9H3F4
|
| biopax3:displayName |
RL5_HUMAN
|
| biopax3:name |
RPL5
|
| biopax3:entityFeature | |
| biopax3:organism | |
| biopax3:sequence |
MGFVKVVKNKAYFKRYQVKFRRRREGKTDYYARKRLVIQDKNKYNTPKYRMIVRVTNRDIICQIAYARIEGDMIVCAAYAHELPKYGVKVGLTNYAAAYCTGLLLARRLLNRFGMDKIYEGQVEVTGDEYNVESIDGQPGAFTCYLDAGLARTTTGNKVFGALKGAVDGGLSIPHSTKRFPGYDSESKEFNAEVHRKHIMGQNVADYMRYLMEEDEDAYKKQFSQYIKNSVTPDMMEEMYKKAHAAIRENPVYEKKPKKEVKKKRWNRPKMSLAQKKDRVAQKKASFLRAQERAAES
|
| biopax3:standardName |
60S ribosomal protein L5
|