Statements (23)
| 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:expressedIn |
motor neurons
|
| gptkbp:function |
RNA processing
assembly of spliceosomal snRNPs |
| gptkbp:geneType |
protein-coding
|
| gptkbp:hasParalog |
gptkb:SMN2
|
| gptkbp:HGNC_ID |
11118
|
| https://www.w3.org/2000/01/rdf-schema#label |
Survival of Motor Neuron 1
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_5
5q13.2 |
| gptkbp:mutationAssociatedWith |
loss causes spinal muscular atrophy
|
| gptkbp:OMIM |
600354
|
| gptkbp:orthologInMouse |
gptkb:Smn1
|
| gptkbp:symbol |
gptkb:SMN1
|
| gptkbp:UniProtID |
gptkb:Q16637
|
| gptkbp:bfsParent |
gptkb:SMN1
|
| gptkbp:bfsLayer |
6
|