General Information of the Protein
Protein ID |
PT04513
|
||||
---|---|---|---|---|---|
Protein Name |
Survival motor neuron protein
|
||||
Secondarily Protein Name |
Component of gems 1
Gemin-1
|
||||
Gene Name |
SMN1
|
||||
Secondarily Gene Name |
SMN
SMNT
|
||||
Sequence |
MAMSSGGSGGGVPEQEDSVLFRRGTGQSDDSDIWDDTALIKAYDKAVASFKHALKNGDICETSGKPKTTPKRKPAKKNKSQKKNTAASLQQWKVGDKCSAIWSEDGCIYPATIASIDFKRETCVVVYTGYGNREEQNLSDLLSPICEVANNIEQNAQENENESQVSTDESENSRSPGNKSDNIKPKSAPWNSFLPPPPPMPGPRLGPGKPGLKFNGPPPPPPPPPPHLLSCWLPPFPSGPPIIPPPPPICPDSLDDADALGSMLISWYMSGYHTGYYMGFRQNQKEGRCSHSLN
Show/Hide
|
||||
Organism |
Homo sapiens, Human
|
||||
Protein Classification |
Epigenetic regulator
>
Reader
>
Methyl-lysine/arginine binding protein
>
Tudor domain
|
||||
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 (PubMed:9845364, PubMed:18984161). 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) (PubMed:18984161). 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 (PubMed:18984161). To assemble core snRNPs, the SMN complex accepts the trapped 5Sm proteins from CLNS1A forming an intermediate (PubMed:18984161). Within the SMN complex, SMN1 acts as a structural backbone and together with GEMIN2 it gathers the Sm complex subunits (PubMed:21816274, PubMed:22101937, PubMed:17178713). 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 (PubMed:31799625). 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 (PubMed:26700805). May also play a role in the metabolism of small nucleolar ribonucleoprotein (snoRNPs).
Show/Hide
|
||||
Uniprot ID |
Show/Hide
|
||||
Ensembl ID | |||||
HGNC ID | |||||
Subcellular Location |
Nucleus
Gem
Nucleus
Cajal body
Cytoplasm
Cytoplasmic granule
Perikaryon
Cell projection
Neuron projection
Cell projection
Axon
Cytoplasm
Myofibril
Sarcomere
Z line
|
Map of Molecular Bioactivity Related to the Protein
Map of Molecular Bioactivity Related to the Protein Protein Cell Line Compound Bioactivity Value: <= 0.1 μM > 0.1 μM and <= 10 μM > 10 μM Imprecise Activity |
|
---|
Table of Molecular Bioactivities Related to the Protein
Cell Line ID: CL000006 , HEK293
Clinical Information about the Protein
Target 1 ( Survival motor neuron protein (SMN1) )
Target Type | Successful Target | ||||
---|---|---|---|---|---|
Disease | 1 Target-related Disease | 1 | |||
1 | Spinal muscular atrophy [ICD-11: 8B61] | ||||
Clinical Trial Drug(s) | 2 Clinical Trial Drugs | 2 | |||
1 | LMI070 | Phase 3 | |||
2 | RG7800 | Phase 1/2 |
Target 2 ( SMN1 messenger RNA (SMN1 mRNA) )
Target Type | Clinical trial Target |
---|