Scnm1
entrez
69269
canonical
uniprot
Q8K136
canonical
ensembl
ENSMUSG00000092607
resolver
genesymbol
Scnm1
resolver
genesymbol_syn
Scnm1-ps
resolver
uniprot
Q9CXV5
resolver
uniprot_entry
SCNM1_MOUSE
resolver
uniprot_sec
Q9CXV5
resolver
amino_acid_sequence
MSFKREGDDWSQLNVLKKRRVGDLLASYIPEDEALMLRDGRFACAICPHRPVLDTLAMLTAHRAGKKHLSSLKLFYGKKQTGKGTEQNPRQQNELKTESKTEAPLLTQTRIITQNALHRAPHYNSCCRRKHRPEAPAPSVSSPPLPTAEVQLQSAEISKEPEPRERSDAKESAALLASAPMSPTKRRVLNHYLTLRSSGWVPDGRGRWIKDENVEFDSDEEEPPDLPLD
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:12920299}.
uniprot
proteins
function
FUNCTION: As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (PubMed:12920299, PubMed:17656373). Plays a role in the regulation of primary cilia length and Hedgehog signaling (By similarity). {ECO:0000250|UniProtKB:Q9BWG6, ECO:0000269|PubMed:12920299, ECO:0000269|PubMed:17656373}.
uniprot
proteins
mass_dalton
25823
uniprot
proteins
pubmed
12920299
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16141072
uniprot
proteins
pubmed
17656373
uniprot
proteins
pubmed
19144319
uniprot
proteins
sequence_length
229
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus, nucleoplasm {ECO:0000269|PubMed:17656373}. Nucleus speckle {ECO:0000269|PubMed:17656373}. Note=Colocalizes with LUC7L2 and SNRNP70 in nuclear speckles. {ECO:0000269|PubMed:17656373}.
uniprot
proteins