InnateDB Protein
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IDBP-292685.5
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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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RPS7
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Protein Name
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ribosomal protein S7
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Synonyms
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DBA8; S7;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000385286
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InnateDB Gene
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IDBG-26561 (RPS7)
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Protein Structure
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Function |
Required for rRNA maturation. {ECO:0000269PubMed:19061985}.
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Subcellular Localization |
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269PubMed:20873783}. Note=Colocalizes with NEK6 in the centrosome.
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Disease Associations |
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:0000269PubMed:19061985}. 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 134 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated |
Total |
134
[view]
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Protein-Protein |
134
[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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Predicted by orthology |
Total |
2 [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 |
IPR000554
Ribosomal protein S7e
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PFAM |
PF01251
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PRINTS |
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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 |
P62081
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PhosphoSite |
PhosphoSite-P62081
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
6201
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UniGene |
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RefSeq |
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HUGO |
HGNC:10440
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OMIM |
603658
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CCDS |
CCDS1648
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HPRD |
04712
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IMGT |
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EMBL |
AC108488
AK311794
BC002866
BC061901
BC071919
CH471053
M77233
Z25749
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GenPept |
AAB00969
AAH02866
AAH61901
AAH71919
AAX82027
BAG34737
CAA81022
EAX01057
EAX01058
EAX01059
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