5q13 (SMN1)
E561092
5q13 (SMN1) is a gene located on chromosome 5 whose proper function is critical for motor neuron survival and whose mutations are the primary cause of spinal muscular atrophy.
Statements (47)
| Predicate | Object |
|---|---|
| instanceOf | gene ⓘ |
| associatedWithDisease |
spinal muscular atrophy
NERFINISHED
ⓘ
spinal muscular atrophy type I NERFINISHED ⓘ spinal muscular atrophy type II NERFINISHED ⓘ spinal muscular atrophy type III NERFINISHED ⓘ spinal muscular atrophy type IV NERFINISHED ⓘ |
| biologicalProcess |
motor neuron survival
ⓘ
pre-mRNA splicing ⓘ small nuclear ribonucleoprotein assembly ⓘ spliceosomal snRNP biogenesis ⓘ |
| cellularComponent |
Cajal body
NERFINISHED
ⓘ
cytoplasm ⓘ nucleus ⓘ |
| chromosomalRegionCharacteristic | segmental duplication hotspot ⓘ |
| chromosomeStrand | plus strand (forward) ⓘ |
| clinicalSignificanceOfLoss |
progressive motor neuron degeneration
ⓘ
proximal muscle weakness ⓘ |
| clinicalTesting |
carrier screening for spinal muscular atrophy
ⓘ
diagnostic testing for spinal muscular atrophy ⓘ |
| encodesProtein | SMN protein NERFINISHED ⓘ |
| EnsemblGeneID | ENSG00000172062 ⓘ |
| expressedInCellType | motor neuron ⓘ |
| expressedInTissue |
brain
ⓘ
spinal cord ⓘ |
| geneType | protein-coding ⓘ |
| genomicRegion | 5q13.2 ⓘ |
| hasAlternativeName |
SMN
ⓘ
survival motor neuron 1 NERFINISHED ⓘ |
| hasFullName | survival of motor neuron 1 NERFINISHED ⓘ |
| hasParalog | SMN2 NERFINISHED ⓘ |
| hasPseudogene | SMN2-like copies in 5q13 region ⓘ |
| hasSymbol | SMN1 ⓘ |
| HGNCID | HGNC:11117 NERFINISHED ⓘ |
| inheritancePatternWhenMutated | autosomal recessive ⓘ |
| isDosageSensitive | true ⓘ |
| isPrimaryGeneticCauseOf | spinal muscular atrophy NERFINISHED ⓘ |
| isTargetOfTherapy | antisense oligonucleotide therapy via SMN2 modulation ⓘ |
| locatedInCytogeneticBand | 5q13 ⓘ |
| locatedOnChromosome | chromosome 5 ⓘ |
| molecularFunction |
RNA binding
ⓘ
small nuclear ribonucleoprotein complex binding ⓘ |
| mutationTypeCausingDisease |
homozygous deletion
ⓘ
loss-of-function mutation ⓘ |
| NCBIEntrezGeneID | 6606 ⓘ |
| OMIMID | 600354 ⓘ |
| organism | Homo sapiens ⓘ |
| pathwayInvolvement | mRNA splicing via spliceosome ⓘ |
Referenced by (1)
Full triples — surface form annotated when it differs from this entity's canonical label.
subject surface form:
Survival motor neuron protein