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 | ||
Protein Classes
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: 34.07 (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: 34.07 (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
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Expression Data (0 Tissues)
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.
Approved Drugs (0)
Active Ligands (0)
Protein-Protein Interactions (228)
Nearest Tclin Targets
Pathways (5)
Reactome (4)
KEGG (1)
Click on a row in the table to change the structure displayed.
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 | ||||
Viral Interactions (0)
Gene Ontology Terms (10)
Functions (1)
Components (6)
Processes (3)
GO Term | Evidence | Assigned by | ||
|---|---|---|---|---|
Inferred from High Throughput Direct Assay (HDA) | UniProtKB | |||
Disease Associations ()
GWAS Traits (12)
Items per page:
1 – 5 of 12
GWAS Trait | EFO ID | Study Count | SNP Count | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|---|---|
neutrophil count | 2 | 2 | 2 | 71.6 | |||||
myeloid white cell count | 1 | 1 | 1 | 59.8 | |||||
mean corpuscular hemoglobin concentration | 1 | 1 | 1 | 45.2 | |||||
leukocyte count | 1 | 1 | 1 | 40.7 | |||||
glomerular filtration rate | 1 | 1 | 1 | 31.4 | |||||
Items per page:
1 – 5 of 12
GWAS Trait | EFO ID | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|
neutrophil count | 2 | 71.6 | |||||
myeloid white cell count | 1 | 59.8 | |||||
mean corpuscular hemoglobin concentration | 1 | 45.2 | |||||
leukocyte count | 1 | 40.7 | |||||
glomerular filtration rate | 1 | 31.4 | |||||
Find similar targets by:
IDG Resources
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 | |||||
Publication Statistics
PubMed Score 34.07
PubMed score by year
PubTator Score 56.44
PubTator score by year
Related Publications
Text Mined References (18)
GeneRif Annotations (5)
Items per page:
0 of 0
PMID | Year | Title |
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