survival motor neuron protein
E133680
Survival motor neuron protein is an essential cellular protein required for the maintenance and function of motor neurons, whose deficiency leads to spinal muscular atrophy.
All labels observed (3)
| Label | Occurrences |
|---|---|
| SMN protein | 4 |
| survival motor neuron protein canonical | 2 |
| Survival of motor neuron protein | 1 |
How this entity was disambiguated
This entity first appeared as the object of triple T1169413 — resolving that mention is where its identity was fixed. The disambiguator weighed these candidate entities and picked the highlighted one (or “None”, minting a new entity). This is how homonymy is resolved: the same surface form can point to different entities.
NED1
Entity disambiguation (via context triple)
gpt-5-mini-2025-08-07
Target entity: survival motor neuron protein Context triple: [Spinraza, increasesProductionOf, survival motor neuron protein]
-
A.
spinal muscular atrophy
Spinal muscular atrophy is a genetic neuromuscular disorder characterized by progressive muscle weakness and atrophy due to degeneration of motor neurons in the spinal cord.
-
B.
ALS
ALS (amyotrophic lateral sclerosis) is a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord, leading to muscle weakness, paralysis, and ultimately respiratory failure.
-
C.
Spinraza
Spinraza is a prescription medication used to treat spinal muscular atrophy (SMA) by modifying SMN2 gene expression to increase production of survival motor neuron (SMN) protein.
-
D.
SMR
SMR is the three-letter ISO 3166-1 alpha-3 country code assigned to San Marino.
-
E.
Sarine
The Sarine is a major river in western Switzerland that flows through the canton of Fribourg and ultimately joins the Aare.
- F. None of above. chosen
- G. Unsure - the case is ambiguous/there is not enough information to decide.
NED2
Entity disambiguation (via description)
gpt-5-mini-2025-08-07
Target entity: survival motor neuron protein Target entity description: Survival motor neuron protein is an essential cellular protein required for the maintenance and function of motor neurons, whose deficiency leads to spinal muscular atrophy.
-
A.
spinal muscular atrophy
Spinal muscular atrophy is a genetic neuromuscular disorder characterized by progressive muscle weakness and atrophy due to degeneration of motor neurons in the spinal cord.
-
B.
ALS
ALS (amyotrophic lateral sclerosis) is a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord, leading to muscle weakness, paralysis, and ultimately respiratory failure.
-
C.
Spinraza
Spinraza is a prescription medication used to treat spinal muscular atrophy (SMA) by modifying SMN2 gene expression to increase production of survival motor neuron (SMN) protein.
-
D.
SMR
SMR is the three-letter ISO 3166-1 alpha-3 country code assigned to San Marino.
-
E.
Sarine
The Sarine is a major river in western Switzerland that flows through the canton of Fribourg and ultimately joins the Aare.
- F. None of above. chosen
Statements (49)
| Predicate | Object |
|---|---|
| instanceOf |
RNA-binding protein
ⓘ
protein ⓘ spliceosomal protein ⓘ |
| alsoKnownAs |
survival motor neuron protein
ⓘ
surface form:
SMN protein
survival motor neuron protein ⓘ
surface form:
Survival of motor neuron protein
|
| associatedWithDisease |
spinal muscular atrophy
ⓘ
spinal muscular atrophy type I ⓘ spinal muscular atrophy ⓘ
surface form:
spinal muscular atrophy type II
spinal muscular atrophy type III ⓘ spinal muscular atrophy type IV ⓘ |
| biologicalProcess |
axon maintenance
ⓘ
mRNA processing ⓘ motor neuron survival ⓘ neuronal development ⓘ pre-mRNA splicing ⓘ spliceosomal snRNP assembly ⓘ |
| cellularLocation |
Cajal bodies
ⓘ
cytoplasm ⓘ gems (Gemini of Cajal bodies) ⓘ nucleus ⓘ |
| chromosomalLocationOfGene | 5q13 (SMN1) ⓘ |
| deficiencyCauses |
degeneration of alpha motor neurons
ⓘ
muscle weakness ⓘ progressive muscular atrophy ⓘ |
| encodedBy |
SMN1 gene
ⓘ
SMN2 ⓘ
surface form:
SMN2 gene
|
| formsComplexWith |
Gemin2
ⓘ
Gemin3 ⓘ Gemin4 ⓘ Gemin5 ⓘ Gemin6 ⓘ Gemin8 ⓘ
surface form:
Gemin7
Gemin8 ⓘ SMN complex ⓘ |
| foundInTaxon | Homo sapiens ⓘ |
| interactsWith |
LSm proteins
ⓘ
Sm proteins ⓘ small nuclear RNAs ⓘ |
| isRequiredFor |
assembly of Sm core on snRNAs
ⓘ
biogenesis of spliceosomal snRNPs ⓘ maintenance of neuromuscular junctions ⓘ proper motor neuron function ⓘ |
| molecularFunction |
RNA binding
ⓘ
RNP complex binding ⓘ small nuclear ribonucleoprotein assembly factor ⓘ |
| orthologIn |
Drosophila melanogaster
ⓘ
Mus musculus ⓘ |
| postTranslationalModification |
methylation
ⓘ
phosphorylation ⓘ |
How these facts were elicited
The pipeline generated the facts above by prompting gpt-5.1 with this entity's name + description and the instruction below.
Instruction
You are a knowledge base construction expert. Given a subject entity and a description of it, return factual statements that you know for the subject as a JSON list of dictionaries(triples), where keys must be "subject", "predicate" and "object". The number of facts may be very high, between 25 to 50 or more, for very popular subjects. For less popular subjects, the number of facts can be very low, like 5 or 10. # Requirements - If you don't know the subject at all, return an empty list. - If the subject is not a named entity, return an empty list. - Include at least one triple where predicate is "instanceOf". - Do not get too wordy. - Separate several objects into multiple triples with one object.
Input
Subject: survival motor neuron protein Description of subject: Survival motor neuron protein is an essential cellular protein required for the maintenance and function of motor neurons, whose deficiency leads to spinal muscular atrophy.
Referenced by (7)
Full triples — surface form annotated when it differs from this entity's canonical label.
this entity surface form:
SMN protein
subject surface form:
Survival motor neuron protein
this entity surface form:
SMN protein
subject surface form:
Survival motor neuron protein
this entity surface form:
Survival of motor neuron protein
this entity surface form:
SMN protein