survival motor neuron protein

E133680

RNA-binding protein protein spliceosomal protein

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.

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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	SMN protein ⓘ linked to: survival motor neuron protein Survival of motor neuron protein ⓘ linked to: survival motor neuron protein
associatedWithDisease	spinal muscular atrophy ⓘ spinal muscular atrophy type I ⓘ spinal muscular atrophy type II ⓘ linked to: spinal muscular atrophy 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 gene ⓘ linked to: SMN2
formsComplexWith	Gemin2 ⓘ Gemin3 ⓘ Gemin4 ⓘ Gemin5 ⓘ Gemin6 ⓘ Gemin7 ⓘ linked to: Gemin8 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