Smn1 Gene Summary [Mouse]

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; early conceptus; eye; gonad; and hemolymphoid system gland. Used to study Werdnig-Hoffmann disease; intermediate spinal muscular atrophy; 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 human SMN1 (survival of motor neuron 1, telomeric) and SMN2 (survival of motor neuron 2, centromeric). [provided by Alliance of Genome Resources, Jul 2025]

Details

Type
Protein Coding
Official Symbol
Smn1
Official Name
survival motor neuron 1 [Source:MGI Symbol;Acc:MGI:109257]
Ensembl ID
ENSMUSG00000021645
Bio databases IDs NCBI: 20595 Ensembl: ENSMUSG00000021645
Aliases survival motor neuron 1
Synonyms Gemin1, Smn, survival motor neuron 1, survival of motor neuron 1, telomeric
Species
Mouse, Mus musculus
OrthologiesRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Smn1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Survival motor neuron protein (SMN)
  • fibroblast growth factor binding
  • protein binding
  • identical protein binding
  • Tudor domain superfamily

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • synaptic dysfunction
  • weight loss
  • mitochondrial disorder
  • motor dysfunction
  • spinal muscular atrophy type II
  • neurodegeneration
  • tubulo-interstitial fibrosis
regulated by
regulates
role in cell
  • growth
  • expression in
  • apoptosis
  • cell death
  • formation
  • size
  • quantity
  • number
  • maturation
  • outgrowth

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • cytoplasmic ribonucleoprotein granule
  • Cytoplasm
  • Golgi Apparatus
  • cytosol
  • gems
  • nucleoplasm
  • nucleoli
  • nuclear bodies
  • coiled body
  • Cajal bodies
  • growth cone
  • neurites
  • nerve ending
  • perikaryon
  • motor axons

Gene-Specific Assays for Results You Can Trust

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