InnateDB Protein
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IDBP-295665.5
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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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POP1
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Protein Name
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processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000385787
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InnateDB Gene
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IDBG-29914 (POP1)
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Protein Structure
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Function |
Component of ribonuclease P, a protein complex that generates mature tRNA molecules by cleaving their 5'-ends. Also a component of RNase MRP.
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Subcellular Localization |
Nucleus, nucleolus.
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Disease Associations |
Note=Defects in POP1 may be the cause of a severe skeletal dysplasia reminiscent of anauxetic dysplasia. Affected individuals show severe growth retardation of prenatal onset, a bone dysplasia affecting the epiphyses and metaphyses of the long bones particularly in the lower limbs, and abnormalities of the spine including irregularly shaped vertebral bodies and marked cervical spine instability.
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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 56 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
56
[view]
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Protein-Protein |
54
[view]
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Protein-DNA |
0
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Protein-RNA |
2
[view]
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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 |
IPR009723
Ribonuclease P/MRP, subunit POP1
IPR012590
POPLD
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PFAM |
PF06978
PF08170
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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 |
Q99575
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PhosphoSite |
PhosphoSite-Q99575
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TrEMBL |
E5RK39
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UniProt Splice Variant |
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Entrez Gene |
10940
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UniGene |
Hs.252828
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RefSeq |
NP_001139333
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HUGO |
HGNC:30129
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OMIM |
602486
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CCDS |
CCDS6277
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HPRD |
03923
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IMGT |
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EMBL |
AK291434
AP003439
CH471060
D31765
X99302
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GenPept |
BAA06543
BAF84123
CAA67684
EAW91776
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