SMNDC1
Survival of motor neuron-related-splicing factor 30
Protein Summary
Necessary for spliceosome assembly. Overexpression causes apoptosis. This gene is a paralog of SMN1 gene, which encodes the survival motor neuron protein, mutations in which are cause of autosomal recessive proximal spinal muscular atrophy. The protein encoded by this gene is a nuclear protein that has been identified as a constituent of the spliceosome complex. This gene is differentially expressed, with abundant levels in skeletal muscle, and may share similar cellular function as the SMN1 gene. [provided by RefSeq, Jul 2008]
- ENST00000369592
- ENSP00000358605
- ENSG00000119953
- ENST00000369603
- ENSP00000358616
- SMNR
- SPF30
- SMNR
- SPF30
- TDRD16C
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
co-expressed gene | 0.96 | ||
disease perturbation | 0.93 | ||
transcription factor binding site profile | 0.9 | ||
transcription factor perturbation | 0.74 | ||
histone modification site profile | 0.72 | ||
Related Tools
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
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: 32.57 (req: < 5)
Gene RIFs: 5 (req: <= 3)
Antibodies: 269 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 32.57 (req: >= 5)
Gene RIFs: 5 (req: > 3)
Antibodies: 269 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 4
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0
GWAS Traits (2)
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1 – 2 of 2
GWAS Trait | EFO ID | Study Count | SNP Count | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|---|---|
1 | 1 | 0 | 1.4 | 8.7 | |||||
triglyceride measurement | 1 | 1 | 1 | 0.7 | |||||
Items per page:
1 – 2 of 2
GWAS Trait | EFO ID | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|
0 | 1.4 | 8.7 | |||||
triglyceride measurement | 1 | 0.7 | |||||
Orthologs (14)
1 – 5 of 14
Species | Name | Source ID | Gene ID | OMA | EggNOG | Inparanoid | ||
|---|---|---|---|---|---|---|---|---|
Chimp | survival motor neuron domain containing 1 | VGNC:12505 | 450730 | |||||
Macaque | survival motor neuron domain containing 1 | 694761 | ||||||
Mouse | MGI:1923729 | 76479 | ||||||
Rat | RGD:1309151 | 287768 | ||||||
Dog | survival motor neuron domain containing 1 | VGNC:46564 | 477817 | |||||
Species | Name | OMA | EggNOG | Inparanoid | ||
|---|---|---|---|---|---|---|
Chimp | survival motor neuron domain containing 1 | |||||
Macaque | survival motor neuron domain containing 1 | |||||
Mouse | ||||||
Rat | ||||||
Dog | survival motor neuron domain containing 1 | |||||
Protein Structure (2 Structures, 1 AlphaFold Model)
Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB
1 – 2 of 2
PDB Structure Id | Ligand | Method | Resolution (Å) | Residues | Fraction of Total Protein | Pub Year | Title |
|---|
PDB Structure Id | Fraction of Total Protein | Resolution | Pub Year |
|---|
Pathways (5)
Reactome (4)
KEGG (1)
Click on a row in the table to change the structure displayed.
Items per page:
1 – 4 of 4
Data Source | Name | Explore in Pharos | Explore in Source | ||
|---|---|---|---|---|---|
Reactome | Metabolism of RNA | ||||
Reactome | Processing of Capped Intron-Containing Pre-mRNA | ||||
Reactome | mRNA Splicing | ||||
Reactome | mRNA Splicing - Major Pathway | ||||
Name | Explore in Pharos | Explore in Source | ||
|---|---|---|---|---|
Metabolism of RNA | ||||
Processing of Capped Intron-Containing Pre-mRNA | ||||
mRNA Splicing | ||||
mRNA Splicing - Major Pathway | ||||
Gene Ontology Terms (10)
Functions (1)
Components (6)
Processes (3)
Items per page:
10
1 – 1 of 1
GO Term | Evidence | Assigned by | ||
|---|---|---|---|---|
Inferred from High Throughput Direct Assay (HDA) | UniProtKB | |||
Protein-Protein Interactions (228)
1 – 10 of 228
SF3A2
Novelty: 0.03658692
Score: 0.993
Data Source: STRINGDB
PRPF6
Novelty: 0.02818008
Score: 0.984
Data Source: STRINGDB
PRPF3
Novelty: 0.01600014
Score: 0.978
Data Source: STRINGDB
SF3B5
Novelty: 0.26636354
Score: 0.961
Data Source: STRINGDB
SNRPB2
Novelty: 0.17219587
Score: 0.959
Data Source: STRINGDB
PRPF8
Novelty: 0.01717158
Score: 0.956
Data Source: STRINGDB
SNRNP200
Family: Enzyme
Novelty: 0.01339666
Score: 0.95
Data Source: STRINGDB
DDX46
Family: Enzyme
Novelty: 0.02888527
Score: 0.948
Data Source: STRINGDB
SNRPB
Novelty: 0.01503535
Score: 0.947
Data Source: STRINGDB
RBM17
Novelty: 0.04840999
Score: 0.944
Data Source: STRINGDB
Publication Statistics
PubMed Score 32.57
PubMed score by year
PubTator Score 56.44
PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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