Smn1
entrez
20595
canonical
uniprot
P97801
canonical
ensembl
ENSMUSG00000021645
resolver
ensp
ENSMUSP00000022147
resolver
ensp
ENSMUSP00000177758
resolver
enst
ENSMUST00000022147
resolver
genesymbol
Smn1
resolver
genesymbol_syn
Smn
resolver
uniprot
O09092
resolver
uniprot
Q549F9
resolver
uniprot_entry
Q549F9_MOUSE
resolver
uniprot_entry
SMN_MOUSE
resolver
uniprot_sec
O09092
resolver
amino_acid_sequence
MAMGSGGAGSEQEDTVLFRRGTGQSDDSDIWDDTALIKAYDKAVASFKHALKNGDICETPDKPKGTARRKPAKKNKSQKKNATTPLKQWKVGDKCSAVWSEDGCIYPATITSIDFKRETCVVVYTGYGNREEQNLSDLLSPTCEVANSTEQNTQENESQVSTDDSEHSSRSLRSKAHSKSKAAPWTSFLPPPPPMPGSGLGPGKPGLKFNGPPPPPPLPPPPFLPCWMPPFPSGPPIIPPPPPISPDCLDDTDALGSMLISWYMSGYHTGYYMGFRQNKKEGKCSHTN
uniprot
proteins
function
FUNCTION: The SMN complex catalyzes the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome, and 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 (Sm core). 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. To assemble core snRNPs, the SMN complex accepts the trapped 5Sm proteins from CLNS1A forming an intermediate. Binding of snRNA inside 5Sm ultimately triggers eviction of the SMN complex, thereby allowing binding of SNRPD3 and SNRPB to complete assembly of the core snRNP. Within the SMN complex, SMN1 acts as a structural backbone and together with GEMIN2 it gathers the Sm complex subunits (By similarity). Ensures the correct splicing of U12 intron-containing genes that may be important for normal motor and proprioceptive neurons development (PubMed:23063131). Also required for resolving RNA-DNA hybrids created by RNA polymerase II, that form R-loop in transcription terminal regions, an important step in proper transcription termination. May also play a role in the metabolism of small nucleolar ribonucleoprotein (snoRNPs) (By similarity). {ECO:0000250|UniProtKB:Q16637, ECO:0000269|PubMed:23063131}.
uniprot
proteins
mass_dalton
31254
uniprot
proteins
mutagenesis
MUTAGEN 131; /note="E->K: Loss of interaction with SYNCRIP."; /evidence="ECO:0000269|PubMed:11773003"; MUTAGEN 257; /note="S->I: Loss of interaction with SYNCRIP."; /evidence="ECO:0000269|PubMed:11773003"; MUTAGEN 267; /note="Y->C: Loss of interaction with SYNCRIP."; /evidence="ECO:0000269|PubMed:11773003"; MUTAGEN 269; /note="T->I: Loss of interaction with SYNCRIP."; /evidence="ECO:0000269|PubMed:11773003"; MUTAGEN 274; /note="G->V: Loss of interaction with SYNCRIP."; /evidence="ECO:0000269|PubMed:11773003
uniprot
proteins
protein_family
SMN family
uniprot
proteins
pubmed
11773003
uniprot
proteins
pubmed
15345747
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17242355
uniprot
proteins
pubmed
17353360
uniprot
proteins
pubmed
19144319
uniprot
proteins
pubmed
21183079
uniprot
proteins
pubmed
21389246
uniprot
proteins
pubmed
23063131
uniprot
proteins
pubmed
9070939
uniprot
proteins
pubmed
9110173
uniprot
proteins
pubmed
9275227
uniprot
proteins
sequence_length
288
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus, gem {ECO:0000250|UniProtKB:Q16637}. Nucleus, Cajal body {ECO:0000250|UniProtKB:Q16637}. Cytoplasm {ECO:0000269|PubMed:21389246}. Cytoplasmic granule {ECO:0000250|UniProtKB:Q16637}. Perikaryon {ECO:0000250|UniProtKB:Q16637}. Cell projection, neuron projection {ECO:0000250|UniProtKB:Q16637}. Cell projection, axon {ECO:0000269|PubMed:21389246}. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000269|PubMed:17353360}. Note=Colocalizes with actin and at the Z-line of skeletal muscle (PubMed:17353360). 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. Colocalizes with FMR1 in cytoplasmic granules in the soma and neurite cell processes (By similarity). {ECO:0000250|UniProtKB:Q16637, ECO:0000269|PubMed:17353360}.
uniprot
proteins