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Tbio
SMNDC1
Survival of motor neuron-related-splicing factor 30

Protein Summary
Description
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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000369592
  • ENSP00000358605
  • ENSG00000119953
  • ENST00000369603
  • ENSP00000358616

Symbol
  • SMNR
  • SPF30
  • SMNR
  • SPF30
  • TDRD16C
Illumination Graph
Knowledge Table
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
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
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
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
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
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: 32.57   (req: < 5)
Gene RIFs: 5   (req: <= 3)
Antibodies: 269   (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: 32.57   (req: >= 5)
Gene RIFs: 5   (req: > 3)
Antibodies: 269   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 4
Tchem

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

Active Ligand: 0
Tclin

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

Active Drug: 0
GWAS Traits (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
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)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-O75940-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

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)
Metabolism of RNA (R-HSA-8953854)

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)
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
Tbio
Novelty: 0.03658692
Score: 0.993
Data Source: STRINGDB
PRPF6
Tbio
Novelty: 0.02818008
Score: 0.984
Data Source: STRINGDB
PRPF3
Tbio
Novelty: 0.01600014
Score: 0.978
Data Source: STRINGDB
SF3B5
Tdark
Novelty: 0.26636354
Score: 0.961
Data Source: STRINGDB
SNRPB2
Tbio
Novelty: 0.17219587
Score: 0.959
Data Source: STRINGDB
PRPF8
Tbio
Novelty: 0.01717158
Score: 0.956
Data Source: STRINGDB
SNRNP200
Tbio
Family: Enzyme
Novelty: 0.01339666
Score: 0.95
Data Source: STRINGDB
DDX46
Tbio
Family: Enzyme
Novelty: 0.02888527
Score: 0.948
Data Source: STRINGDB
SNRPB
Tbio
Novelty: 0.01503535
Score: 0.947
Data Source: STRINGDB
RBM17
Tbio
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