Statements (25)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
spinal muscular atrophy
|
| gptkbp:discoveredIn |
1995
|
| gptkbp:encodes |
gptkb:SMN_protein
|
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000172062
6606 |
| gptkbp:fullName |
Survival of motor neuron 1
|
| gptkbp:function |
RNA processing
snRNP biogenesis |
| gptkbp:geneType |
protein-coding
|
| gptkbp:hasParalog |
gptkb:SMN2
|
| gptkbp:HGNC_ID |
11111
|
| https://www.w3.org/2000/01/rdf-schema#label |
Smn1
|
| gptkbp:locatedOnChromosome |
5q13.2
|
| gptkbp:mutationAssociatedWith |
loss of function causes SMA
|
| gptkbp:numberOfExons |
9
|
| gptkbp:OMIM |
600354
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
gptkb:Smn1
|
| gptkbp:product |
SMN1 protein
|
| gptkbp:bfsParent |
gptkb:Survival_of_Motor_Neuron_1
gptkb:SMN1_gene gptkb:SMN1_(mouse) |
| gptkbp:bfsLayer |
7
|