InnateDB Protein
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IDBP-100294.6
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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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RPL5
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Protein Name
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ribosomal protein L5
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Synonyms
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DBA6; L5; PPP1R135;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000359345
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InnateDB Gene
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IDBG-100292 (RPL5)
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Protein Structure
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Function |
Required for rRNA maturation and formation of the 60S ribosomal subunits. This protein binds 5S RNA. {ECO:0000269PubMed:19061985}.
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Subcellular Localization |
Cytoplasm {ECO:0000269Ref.7}. Nucleus, nucleolus {ECO:0000269Ref.7}.
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Disease Associations |
Diamond-Blackfan anemia 6 (DBA6) [MIM:612561]: 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 181 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated |
Total |
181
[view]
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Protein-Protein |
178
[view]
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Protein-DNA |
3
[view]
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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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Predicted by orthology |
Total |
3 [view]
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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 |
IPR005484
Ribosomal protein L18/L5
IPR005485
Ribosomal protein L5 eukaryotic/L18 archaeal
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PFAM |
PF00861
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PRINTS |
PR00058
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P46777
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PhosphoSite |
PhosphoSite-P46777
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TrEMBL |
R4GNJ2
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UniProt Splice Variant |
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Entrez Gene |
6125
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UniGene |
Hs.616837
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RefSeq |
NP_000960
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HUGO |
HGNC:10360
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OMIM |
603635
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CCDS |
CCDS741
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HPRD |
04699
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IMGT |
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EMBL |
AB061848
AF113210
AK095815
AK222604
AK314720
AL162740
BC109370
BC132970
BC132972
CH471097
U14966
U76609
Z35312
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GenPept |
AAA85654
AAB18361
AAG39281
AAI09371
AAI32971
AAI32973
BAB79486
BAD96324
BAG37264
BAG53138
CAI22505
EAW73088
EAW73089
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