2. Gene
  3. Smn1 - survival motor neuron 1 Gene

Smn1 - survival motor neuron 1 Gene

  • Gene
  • Protein
  • Agent
  • Ortholog
Mus musculus

Also known as Smn; Gemin1

Gene ID: 20595 | Gene type: protein coding

About Smn1

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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
11907229 MGI
Biological Process GO Annotation Evidence Reference 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 Reference 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
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

survival motor neuron protein

survival of motor neuron protein

Related Agents

Pre-clinical Phase
Bioactive Molecules (2)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS13438 SMN1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS22328 Smn1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Smn1 NCBI NCBI:6606