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.

Try in SPARQL Jump to: Surface forms Statements Referenced by

All labels observed (3)

Label Occurrences
SMN protein 4
survival motor neuron protein canonical 2
Survival of motor neuron protein 1

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 ⓘ

Referenced by (7)

Full triples — surface form annotated when it differs from this entity's canonical label.

Spinraza → increasesProductionOf → survival motor neuron protein ⓘ
Spinraza → increasesProductionOf → survival motor neuron protein ⓘ
this entity surface form: SMN protein
survival motor neuron protein → alsoKnownAs → survival motor neuron protein ⓘ
subject surface form: Survival motor neuron protein
this entity surface form: SMN protein
survival motor neuron protein → alsoKnownAs → survival motor neuron protein ⓘ
subject surface form: Survival motor neuron protein
this entity surface form: Survival of motor neuron protein
risdiplam → affectsProtein → survival motor neuron protein ⓘ
this entity surface form: SMN protein
SMN2 → encodes → survival motor neuron protein ⓘ
SMN2 → produces → survival motor neuron protein ⓘ
this entity surface form: SMN protein