InnateDB Protein
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IDBP-96437.6
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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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SNIP1
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Protein Name
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Smad nuclear interacting protein 1
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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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ENSP00000296215
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InnateDB Gene
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IDBG-96435 (SNIP1)
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Protein Structure
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Function |
Down-regulates NF-kappa-B signaling by competing with RELA for CREBBP/EP300 binding. Involved in the microRNA (miRNA) biogenesis. May be involved in cyclin-D1/CCND1 mRNA stability through the SNARP complex which associates with both the 3'end of the CCND1 gene and its mRNA. {ECO:0000269PubMed:11567019, ECO:0000269PubMed:15378006, ECO:0000269PubMed:18632581, ECO:0000269PubMed:18794151}.
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Subcellular Localization |
Nucleus {ECO:0000269PubMed:10887155}.
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Disease Associations |
Psychomotor retardation, epilepsy, and craniofacial dysmorphism (PMRED) [MIM:614501]: A disease characterized by severe psychomotor retardation, intractable seizures, dysmorphic features, and a lumpy skull surface. Patients are hypotonic and have poor feeding in the neonatal period. {ECO:0000269PubMed:22279524}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Ubiquitous, with highest expression in heart and skeletal muscle. {ECO:0000269PubMed:10887155}.
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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 67 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated |
Total |
67
[view]
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Protein-Protein |
65
[view]
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Protein-DNA |
2
[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 |
1 [view]
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Molecular Function |
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Biological Process |
GO:0006355
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regulation of transcription, DNA-templated
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GO:0007249
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I-kappaB kinase/NF-kappaB signaling
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GO:0035196
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production of miRNAs involved in gene silencing by miRNA
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Cellular Component |
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PDB ID |
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InterPro |
IPR000253
Forkhead-associated (FHA) domain
IPR008984
SMAD/FHA domain
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PFAM |
PF00498
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PRINTS |
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PIRSF |
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SMART |
SM00240
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TIGRFAMs |
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Modification |
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SwissProt |
Q8TAD8
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PhosphoSite |
PhosphoSite-Q8TAD8
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TrEMBL |
B1AK66
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UniProt Splice Variant |
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Entrez Gene |
79753
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UniGene |
Hs.613500
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RefSeq |
NP_078976
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HUGO |
HGNC:30587
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OMIM |
608241
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CCDS |
CCDS419
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HPRD |
06999
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IMGT |
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EMBL |
AK022615
AK027622
AK315574
AY081909
BC027040
CH471059
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GenPept |
AAH27040
AAL91140
BAB14134
BAB55241
BAG37948
EAX07338
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