Smn1 - survival motor neuron 1 Gene
Also Known as Smn; Gemin1
Species: Mus musculus
Summary
Predicted to enable Fibroblast Growth Factor binding activity and identical protein binding activity. Acts upstream of or within several processes, including axonogenesis; microtubule depolymerization; and positive regulation of RNA splicing. Located in several cellular components, including COPI-coated vesicle; Cajal body; and growth cone. Is expressed in several structures, including central nervous system; eye; genitourinary system; gut; and hemolymphoid system gland. Used to study Werdnig-Hoffmann disease and juvenile spinal muscular atrophy. Human ortholog(s) of this gene implicated in Werdnig-Hoffmann disease; adult spinal muscular atrophy; intermediate spinal muscular atrophy; juvenile spinal muscular atrophy; and spinal muscular atrophy. Orthologous to several human genes including SMN2 (survival of motor neuron 2, centromeric). [provided by Alliance of Genome Resources, Apr 2022]
Smn1 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001252629.1 | NP_001239558.1 | survival motor neuron protein isoform 2 |
| NM_011420.2 | NP_035550.1 | survival motor neuron protein isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
11907229 | MGI |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| acts upstream of or within axonogenesis |
IMP
IMP: Inferred from mutant phenotype
|
20176735 | MGI |
| acts upstream of or within microtubule depolymerization |
IMP
IMP: Inferred from mutant phenotype
|
20176735 | MGI |
| acts upstream of or within positive regulation of RNA splicing |
IMP
IMP: Inferred from mutant phenotype
|
22037760 | MGI |
| acts upstream of or within regulation of neuron projection development |
IGI
IGI: Inferred from genetic interaction
|
24067532 | MGI |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in COPI-coated vesicle |
IDA
IDA: Inferred from direct assay
|
21300694 | MGI |
| located in Cajal body |
IDA
IDA: Inferred from direct assay
|
24067532 | MGI |
| located in Golgi apparatus |
IDA
IDA: Inferred from direct assay
|
21300694 | MGI |
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
11181573 | MGI |
| located in growth cone |
IDA
IDA: Inferred from direct assay
|
21300694 | MGI |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
11181573 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
survival motor neuron protein |
|