Target Information
Target General Information | Top | |||||
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Target ID |
T95695
(Former ID: TTDI02294)
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Target Name |
SMN1 messenger RNA (SMN1 mRNA)
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Synonyms |
Survival motor neuron protein mRNA; SMNT mRNA; SMNC mRNA; SMN mRNA; Gemin-1 mRNA; Component of gems 1 mRNA
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Gene Name |
SMN1
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Target Type |
Clinical trial target
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[1] | ||||
Disease | [+] 1 Target-related Diseases | + | ||||
1 | Muscular atrophy [ICD-11: 8B61] | |||||
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. 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).
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BioChemical Class |
mRNA target
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UniProt ID | ||||||
Sequence |
MAMSSGGSGGGVPEQEDSVLFRRGTGQSDDSDIWDDTALIKAYDKAVASFKHALKNGDIC
ETSGKPKTTPKRKPAKKNKSQKKNTAASLQQWKVGDKCSAIWSEDGCIYPATIASIDFKR ETCVVVYTGYGNREEQNLSDLLSPICEVANNIEQNAQENENESQVSTDESENSRSPGNKS DNIKPKSAPWNSFLPPPPPMPGPRLGPGKPGLKFNGPPPPPPPPPPHLLSCWLPPFPSGP PIIPPPPPICPDSLDDADALGSMLISWYMSGYHTGYYMGFRQNQKEGRCSHSLN Click to Show/Hide
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Drugs and Modes of Action | Top | |||||
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Approved Drug(s) | [+] 1 Approved Drugs | + | ||||
1 | nusinersen | Drug Info | Approved | Spinal muscular atrophy | [2] | |
Clinical Trial Drug(s) | [+] 1 Clinical Trial Drugs | + | ||||
1 | BIIB115 | Drug Info | Phase 1 | Spinal muscular atrophy | [3] | |
Mode of Action | [+] 1 Modes of Action | + | ||||
Modulator | [+] 1 Modulator drugs | + | ||||
1 | nusinersen | Drug Info | [2] |
Cell-based Target Expression Variations | Top | |||||
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Cell-based Target Expression Variations |
References | Top | |||||
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REF 1 | A rare variant (c.863G>T) in exon 7 of SMN1 disrupts mRNA splicing and is responsible for spinal muscular atrophy. Eur J Hum Genet. 2016 Jun;24(6):864-70. | |||||
REF 2 | 2016 FDA drug approvals. Nat Rev Drug Discov. 2017 Feb 2;16(2):73-76. | |||||
REF 3 | ClinicalTrials.gov (NCT05575011) A Randomized, Blinded, Placebo-Controlled, Phase 1 Single Ascending Dose Study in Healthy Adult Male Volunteers and an Open-Label Multiple Ascending Dose Study in Pediatric SMA Participants Previously Treated With Onasemnogene Abeparvovec (Zolgensma?) to Evaluate the Safety, Tolerability, and Pharmacokinetics of BIIB115. U.S.National Institutes of Health. | |||||
REF 4 | Clinical pipeline report, company report or official report of Ionis |
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