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InnateDB Protein
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IDBP-622314.3
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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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Scnm1-ps
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Protein Name
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sodium channel modifier 1
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Synonyms
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3110001I17Rik; Scnm1-ps;
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Species
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Mus musculus
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Ensembl Protein
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ENSMUSP00000134337
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InnateDB Gene
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IDBG-605626 (Scnm1-ps)
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Protein Structure
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| Function |
Plays a role in RNA splicing, possibly contributing to the recognition of non-consensus donor sites. {ECO:0000269PubMed:12920299, ECO:0000269PubMed:17656373}.
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| Subcellular Localization |
Nucleus. Nucleus speckle. Note=Colocalizes with LUC7L2 and SNRNP70 in nuclear speckles.
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| Disease Associations |
Note=Allele R187X is a disease susceptibility variant, which modifies the severity of the disease jolting mutant (medjo) caused by defects in Scn8a. It reduces the abundance of correctly spliced Scn8a transcripts below the threshold for survival thereby converting a chronic movement disorder into a lethal neurological disease. {ECO:0000269PubMed:12920299}.
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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 1 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
| Experimentally validated |
| Total |
1
[view]
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| Protein-Protein |
0
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| Protein-DNA |
1
[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 |
4 [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 |
MGI:1341284
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| InterPro |
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| PFAM |
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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 |
Q8K136
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| PhosphoSite |
PhosphoSite-Q8K136
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| TrEMBL |
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| UniProt Splice Variant |
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| Entrez Gene |
69269
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| UniGene |
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| RefSeq |
NP_081289
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| MGI ID |
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| MGI Symbol |
Scnm1
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| OMIM |
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| CCDS |
CCDS50987
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| HPRD |
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| IMGT |
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| EMBL |
AK013948
BC028867
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| GenPept |
AAH28867
BAB29077
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Version 5.4