InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Smn1

Summary

InnateDB Protein

IDBP-177074.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Smn1

Protein Name

survival motor neuron 1

Synonyms

AI849087; Gemin1; Smn;

Species

Mus musculus

Ensembl Protein

ENSMUSP00000022147

InnateDB Gene

IDBG-177072 (Smn1)

Protein Structure

UniProt Annotation

Function

The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus. Ensures the correct splicing of U12 intron-containing genes that may be important for normal motor and proprioceptive neurons development. May also play a role in the metabolism of small nucleolar ribonucleoprotein (snoRNPs). {ECO:0000269PubMed:23063131}.

Subcellular Localization

Cytoplasm {ECO:0000250}. Nucleus, gem {ECO:0000250}. Nucleus, Cajal body {ECO:0000250}. Cytoplasmic granule {ECO:0000250}. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000269PubMed:17353360}. Note=Under stress conditions colocalizes with Rpp20/Pop7 in punctuated cytoplasmic granules. Colocalized and redistributed with ZPR1 from the cytoplasm to nuclear gems (Gemini of coiled bodies) and Cajal bodies (By similarity). {ECO:0000250}.

Disease Associations

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.

Experimentally validated
Total	9 [view]
Protein-Protein	9 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003723	RNA binding
GO:0005515	protein binding

Biological Process

GO:0000387	spliceosomal snRNP assembly
GO:0006397	mRNA processing
GO:0007019	microtubule depolymerization
GO:0007409	axonogenesis
GO:0042307	positive regulation of protein import into nucleus

Cellular Component

GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0015030	Cajal body
GO:0030018	Z disc
GO:0032797	SMN complex
GO:0034719	SMN-Sm protein complex
GO:0097504	Gemini of coiled bodies