Tchem SMN1 Survival motor neuron protein

Protein Summary

Description

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). This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. However, mutations in this gene, the telomeric copy, are associated with spinal muscular atrophy; mutations in the centromeric copy do not lead to disease. The centromeric copy may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Multiple transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2014]

Uniprot Accession IDs

• Q16637
• A8K0V4
• Q13119
• Q549U5
• Q96J51

Gene Name

• SMN1

Ensembl ID

• ENST00000351205
• ENSP00000305857
• ENSG00000172062
• ENST00000380707
• ENSP00000370083
• ENST00000380741
• ENSP00000370117
• ENSG00000205571
• ENST00000380742
• ENSP00000370118
• ENST00000380743
• ENSP00000370119
• ENST00000503079
• ENSP00000428128
• ENST00000506163
• ENSP00000424926
• ENST00000611442
• ENSP00000483768
• ENSG00000277773
• ENST00000614240
• ENSP00000479279
• ENST00000614610
• ENSP00000479920
• ENSG00000273772
• ENST00000614773
• ENSP00000481427
• ENST00000618251
• ENSP00000483515
• ENST00000618661
• ENSP00000483819
• ENST00000622158
• ENSP00000480906
• ENSG00000275349
• ENST00000622739
• ENSP00000482966
• ENST00000624634
• ENSP00000485595
• ENST00000626847
• ENSP00000486152
• ENST00000627341
• ENSP00000487421
• ENST00000628353
• ENSP00000487029
• ENST00000628642
• ENSP00000487015
• ENST00000629122
• ENSP00000487206

Symbol

• SMN
• SMNT
• SMA
• SMN
• SMA1
• SMA2
• SMA3
• SMA4
• SMA@
• SMNT
• BCD541
• GEMIN1
• TDRD16A
• T-BCD541

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
interacting protein	0.99
biological term	0.79
cellular component	0.69
tissue sample	0.6
ligand (protein) perturbation	0.59

Protein Classes

DTO Classes

Protein / Epigenetic Regulator / Reader / Methyl-lysine/arginine Binding Protein / Tudor Domain / Survival Motor Neuron Protein

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 918.77   (req: < 5)

Gene RIFs: 415   (req: <= 3)

Antibodies: 205   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 918.77   (req: >= 5)

Gene RIFs: 415   (req: > 3)

Antibodies: 205   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 7

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligands: 12

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0