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Smn1 survival motor neuron 1 [ Mus musculus (house mouse) ]

Gene ID: 20595, updated on 21-Apr-2024

Summary

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Official Symbol
Smn1provided by MGI
Official Full Name
survival motor neuron 1provided by MGI
Primary source
MGI:MGI:109257
See related
Ensembl:ENSMUSG00000021645 AllianceGenome:MGI:109257
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Smn; Gemin1
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]
Expression
Ubiquitous expression in CNS E11.5 (RPKM 17.7), CNS E14 (RPKM 14.7) and 28 other tissues See more
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Genomic context

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Location:
13 D1; 13 52.99 cM
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (100259713..100274206)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (100123205..100137699)

Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB Neighboring gene STARR-positive B cell enhancer ABC_E2419 Neighboring gene STARR-positive B cell enhancer ABC_E3095 Neighboring gene small EDRK-rich factor 1 Neighboring gene STARR-seq mESC enhancer starr_35471 Neighboring gene NLR family, apoptosis inhibitory protein 2 Neighboring gene myc induced nuclear antigen pseudogene Neighboring gene NLR family, apoptosis inhibitory protein 1, related sequence 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Nifedipine Ameliorates Cellular Differentiation Defects of Smn-Deficient Motor Neurons and Enhances Neuromuscular Transmission in SMA Mice. Tejero R, et al. Int J Mol Sci, 2023 Apr 21. PMID 37108811, Free PMC Article
  2. Long-Term SMN- and Ncald-ASO Combinatorial Therapy in SMA Mice and NCALD-ASO Treatment in hiPSC-Derived Motor Neurons Show Protective Effects. Muiños-Bühl A, et al. Int J Mol Sci, 2023 Feb 20. PMID 36835624, Free PMC Article
  3. DG9-conjugated morpholino rescues phenotype in SMA mice by reaching the CNS via a subcutaneous administration. Aslesh T, et al. JCI Insight, 2023 Mar 8. PMID 36719755, Free PMC Article
  4. SMN Is Physiologically Downregulated at Wild-Type Motor Nerve Terminals but Aggregates Together with Neurofilaments in SMA Mouse Models. Franco-Espin J, et al. Biomolecules, 2022 Oct 20. PMID 36291733, Free PMC Article
  5. Microvasculopathy in spinal muscular atrophy is driven by a reversible autonomous endothelial cell defect. Zhou H, et al. J Clin Invest, 2022 Nov 1. PMID 36099045, Free PMC Article

See all (378) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Depletion of SMN protein in mesenchymal progenitors impairs the development of bone and neuromuscular junction in spinal muscular atrophy.
    Title: Depletion of SMN protein in mesenchymal progenitors impairs the development of bone and neuromuscular junction in spinal muscular atrophy.
  2. SMN deficiency perturbs monoamine neurotransmitter metabolism in spinal muscular atrophy.
    Title: SMN deficiency perturbs monoamine neurotransmitter metabolism in spinal muscular atrophy.
  3. A spinal muscular atrophy modifier implicates the SMN protein in SNARE complex assembly at neuromuscular synapses.
    Title: A spinal muscular atrophy modifier implicates the SMN protein in SNARE complex assembly at neuromuscular synapses.
  4. Nifedipine Ameliorates Cellular Differentiation Defects of Smn-Deficient Motor Neurons and Enhances Neuromuscular Transmission in SMA Mice.
    Title: Nifedipine Ameliorates Cellular Differentiation Defects of Smn-Deficient Motor Neurons and Enhances Neuromuscular Transmission in SMA Mice.
  5. SMN Is Physiologically Downregulated at Wild-Type Motor Nerve Terminals but Aggregates Together with Neurofilaments in SMA Mouse Models.
    Title: SMN Is Physiologically Downregulated at Wild-Type Motor Nerve Terminals but Aggregates Together with Neurofilaments in SMA Mouse Models.
  6. SMN protein is required throughout life to prevent spinal muscular atrophy disease progression.
    Title: SMN protein is required throughout life to prevent spinal muscular atrophy disease progression.
  7. SMN Depleted Mice Offer a Robust and Rapid Onset Model of Nonalcoholic Fatty Liver Disease.
    Title: SMN Depleted Mice Offer a Robust and Rapid Onset Model of Nonalcoholic Fatty Liver Disease.
  8. Intragenic complementation of amino and carboxy terminal SMN missense mutations can rescue Smn null mice.
    Title: Intragenic complementation of amino and carboxy terminal SMN missense mutations can rescue Smn null mice.
  9. Conditional deletion of SMN in cell culture identifies functional SMN alleles.
    Title: Conditional deletion of SMN in cell culture identifies functional SMN alleles.
  10. Altered bone development with impaired cartilage formation precedes neuromuscular symptoms in spinal muscular atrophy.
    Title: Altered bone development with impaired cartilage formation precedes neuromuscular symptoms in spinal muscular atrophy.
Submit: New GeneRIF Correction See all GeneRIFs (98)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (14)  1 citation
  • Endonuclease-mediated (6) 

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables RNA binding IEA
Inferred from Electronic Annotation
more info
  
enables fibroblast growth factor binding ISO
Inferred from Sequence Orthology
more info
  
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within RNA splicing IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within axonogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within mRNA processing IEA
Inferred from Electronic Annotation
more info
  
involved_in mRNA processing IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within microtubule depolymerization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within nervous system development IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within positive regulation of RNA splicing IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within regulation of neuron projection development IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in spliceosomal snRNP assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in COPI-coated vesicle IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in Cajal body IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in Cajal body IDA
Inferred from Direct Assay
more info
 PubMed 
located_in Cajal body ISO
Inferred from Sequence Orthology
more info
  
is_active_in Gemini of coiled bodies IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in Gemini of coiled bodies ISO
Inferred from Sequence Orthology
more info
  
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 PubMed 
part_of SMN complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of SMN complex ISO
Inferred from Sequence Orthology
more info
  
part_of SMN-Sm protein complex ISO
Inferred from Sequence Orthology
more info
  
located_in cell projection IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in cytoplasmic ribonucleoprotein granule ISO
Inferred from Sequence Orthology
more info
  
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
located_in growth cone IDA
Inferred from Direct Assay
more info
 PubMed 
located_in neuron projection ISO
Inferred from Sequence Orthology
more info
  
located_in nuclear body ISO
Inferred from Sequence Orthology
more info
  
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
  
located_in perikaryon ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
survival motor neuron protein
Names
survival of motor neuron protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001252629.1 → NP_001239558.1  survival motor neuron protein isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has an alternate 5' exon, which results in a downstream AUG start codon, compared to variant 1. The resulting isoform (2) is shorter at the N-terminus, compared to isoform 1.
    Source sequence(s)
    EU234021, U63294
    UniProtKB/Swiss-Prot
    P97801
    Conserved Domains (1) summary
    pfam06003
    Location:53 → 92
    SMN; Survival motor neuron protein (SMN)

  2. NM_011420.2 → NP_035550.1  survival motor neuron protein isoform 1

    See identical proteins and their annotated locations for NP_035550.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AI849087, BB059791, CJ058980, U77714
    Consensus CDS
    CCDS26725.1
    UniProtKB/Swiss-Prot
    O09092, P97801
    UniProtKB/TrEMBL
    Q3UMN7, Q549F9
    Related
    ENSMUSP00000022147.9, ENSMUST00000022147.15
    Conserved Domains (2) summary
    smart00333
    Location:87 → 138
    TUDOR; Tudor domain
    pfam06003
    Location:24 → 286
    SMN; Survival motor neuron protein (SMN)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000079.7 Reference GRCm39 C57BL/6J

    Range
    100259713..100274206
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011244637.2 → XP_011242939.1  survival motor neuron protein isoform X1

    See identical proteins and their annotated locations for XP_011242939.1

    UniProtKB/TrEMBL
    Q3UMN7
    Conserved Domains (1) summary
    pfam06003
    Location:24 → 273
    SMN; Survival motor neuron protein (SMN)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P97801.1 GenPept UniProtKB/Swiss-Prot:P97801

Gene LinkOut

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