InnateDB Protein
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IDBP-79970.6
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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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RPS24
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Protein Name
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ribosomal protein S24
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Synonyms
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DBA3; S24;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000361435
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InnateDB Gene
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IDBG-79966 (RPS24)
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Protein Structure
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Function |
Required for processing of pre-rRNA and maturation of 40S ribosomal subunits. {ECO:0000269PubMed:18230666}.
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Subcellular Localization |
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Disease Associations |
Diamond-Blackfan anemia 3 (DBA3) [MIM:610629]: 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 developing leukemia. 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:17186470}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Mature tissues, such as adult brain, skeletal muscle, heart, and kidney, express low levels, whereas tissues and organs with significant populations of proliferating cells, such as fetal brain, placenta, bone marrow, and various glandular organs, contain significantly higher levels. {ECO:0000269PubMed:17186470}.
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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 147 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
147
[view]
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Protein-Protein |
147
[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 |
IPR001976
Ribosomal protein S24e
IPR012678
Ribosomal protein L23/L15e core domain
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PFAM |
PF01282
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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 |
P62847
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PhosphoSite |
PhosphoSite-P62847
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
6229
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UniGene |
Hs.356794
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RefSeq |
NP_001017
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HUGO |
HGNC:10411
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OMIM |
602412
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CCDS |
CCDS7355
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HPRD |
03877
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IMGT |
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EMBL |
AK311776
AK311910
AL512628
BC000523
BC003149
BC071926
BX336465
BX537975
CH471083
M31520
U12202
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GenPept |
AAA36588
AAB08006
AAB08007
AAH00523
AAH71926
BAG34719
BAG34851
CAD97939
CAI16467
CAI16468
EAW54623
EAW54625
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