InnateDB Protein
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IDBP-93978.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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RPL11
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Protein Name
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ribosomal protein L11
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Synonyms
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DBA7; GIG34; L11;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000363676
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InnateDB Gene
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IDBG-93976 (RPL11)
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Protein Structure
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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). {ECO:0000250}.
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Subcellular Localization |
Nucleus, nucleolus {ECO:0000250}.
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Disease Associations |
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. {ECO:0000269PubMed:19061985, ECO:0000269PubMed:19191325}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 163 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
163
[view]
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Protein-Protein |
163
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR002132
Ribosomal protein L5
IPR022803
Ribosomal protein L5 domain
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PFAM |
PF00281
PF00673
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PRINTS |
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PIRSF |
PIRSF002161
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P62913
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PhosphoSite |
PhosphoSite-P62913
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TrEMBL |
Q5VVD0
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UniProt Splice Variant |
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Entrez Gene |
6135
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UniGene |
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RefSeq |
NP_001186731
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HUGO |
HGNC:10301
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OMIM |
604175
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CCDS |
CCDS238
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HPRD |
10364
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IMGT |
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EMBL |
AB007171
AF101385
AF432212
AK311816
AL451000
BC018970
CH471134
L05092
X79234
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GenPept |
AAC15856
AAD20460
AAH18970
AAL99919
BAA25831
BAG34759
CAA55816
EAW95068
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