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

    Gene ID: 20595, updated on 28-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)
    • Endonuclease-mediated (6) 
    • Targeted (14)  1 citation

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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