SMN1 gene
E561082
The SMN1 gene is a human gene whose proper function is critical for motor neuron survival, and mutations in it are the primary cause of spinal muscular atrophy.
Observed surface forms (1)
| Surface form | Occurrences |
|---|---|
| SMN1 | 2 |
Statements (47)
| Predicate | Object |
|---|---|
| instanceOf | gene ⓘ |
| associatedWithDisease |
spinal muscular atrophy
NERFINISHED
ⓘ
spinal muscular atrophy type I ⓘ spinal muscular atrophy type II ⓘ spinal muscular atrophy type III ⓘ spinal muscular atrophy type IV NERFINISHED ⓘ |
| biologicalProcessOfProduct |
motor neuron survival
ⓘ
pre-mRNA splicing ⓘ spliceosomal snRNP assembly ⓘ |
| cellularComponentOfProduct |
Cajal body
NERFINISHED
ⓘ
cytoplasm ⓘ nucleus ⓘ |
| chromosomalBand | 5q13.2 ⓘ |
| clinicalSignificanceOfVariants |
benign
ⓘ
likely pathogenic ⓘ pathogenic ⓘ |
| clinicalTesting |
carrier screening for spinal muscular atrophy
ⓘ
diagnostic testing for spinal muscular atrophy ⓘ |
| discoveredAs | gene responsible for proximal spinal muscular atrophy ⓘ |
| encodes |
SMN protein
NERFINISHED
ⓘ
survival motor neuron protein NERFINISHED ⓘ |
| EnsemblGeneID | ENSG00000172062 ⓘ |
| EntrezGeneID | 6606 ⓘ |
| exonCountApproximate | 9 ⓘ |
| fullName | survival of motor neuron 1 NERFINISHED ⓘ |
| geneType | protein coding ⓘ |
| hasParalog | SMN2 NERFINISHED ⓘ |
| hasPseudogeneOrDuplicate | SMN2 NERFINISHED ⓘ |
| HGNCID | HGNC:11117 ⓘ |
| inheritancePatternWhenMutated | autosomal recessive ⓘ |
| isTargetOf | gene therapy for spinal muscular atrophy ⓘ |
| locatedOnChromosome | chromosome 5 ⓘ |
| lossOfFunctionLeadsTo |
degeneration of alpha motor neurons
ⓘ
reduced SMN protein levels ⓘ |
| majorCauseOf | autosomal recessive spinal muscular atrophy ⓘ |
| molecularFunctionOfProduct |
RNA binding
ⓘ
small nuclear ribonucleoprotein assembly factor ⓘ |
| mutationTypeAssociatedWithDisease |
gene conversion to SMN2
ⓘ
homozygous deletion ⓘ point mutation ⓘ |
| OMIMID | 600354 ⓘ |
| organism | Homo sapiens NERFINISHED ⓘ |
| paralogLocation | 5q13.2 ⓘ |
| relatedPathway | mRNA splicing via spliceosome ⓘ |
| strand | plus strand on chromosome 5 ⓘ |
| UniProtID | Q16637 ⓘ |
| usedIn | newborn screening for spinal muscular atrophy ⓘ |
Referenced by (3)
Full triples — surface form annotated when it differs from this entity's canonical label.
subject surface form:
Survival motor neuron protein
this entity surface form:
SMN1