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

Summary

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; 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, Dec 2024]
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

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_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
SMN deficiency perturbs monoamine neurotransmitter metabolism in spinal muscular atrophy.
Title: SMN deficiency perturbs monoamine neurotransmitter metabolism in spinal muscular atrophy.
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.
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.
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.
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.
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.
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.
Conditional deletion of SMN in cell culture identifies functional SMN alleles.
Title: Conditional deletion of SMN in cell culture identifies functional SMN alleles.
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 (5)
Targeted (16) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Smn1 (e-PCR), detects polymorphism
- UniSTS:265238

Smn (e-PCR), detects polymorphism
- UniSTS:144439

Smn (e-PCR), detects polymorphism
- UniSTS:144440

Smn (e-PCR), detects polymorphism
- UniSTS:144441

Smn (e-PCR), detects polymorphism
- UniSTS:144442

PMC23295P1 (e-PCR)
- UniSTS:272194

AI849087 (e-PCR)
- UniSTS:180587

Smn1 (e-PCR), detects polymorphism
- UniSTS:463025

Smn1 (e-PCR), detects polymorphism
- UniSTS:256490

Smn1 (e-PCR), detects polymorphism
- UniSTS:256491

Smn (e-PCR), detects polymorphism
- UniSTS:256492

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
involved_in DNA-templated transcription termination	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within axonogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within microtubule depolymerization	IMP Inferred from Mutant Phenotype more info	PubMed
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
involved_in spliceosomal snRNP assembly	ISS Inferred from Sequence or Structural Similarity 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
located_in Cajal body	ISS Inferred from Sequence or Structural Similarity 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 Gemini of coiled bodies	ISS Inferred from Sequence or Structural Similarity 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 complex	ISS Inferred from Sequence or Structural Similarity more info
part_of SMN-Sm protein complex	ISO Inferred from Sequence Orthology more info
part_of SMN-Sm protein complex	ISS Inferred from Sequence or Structural Similarity more info
located_in Z disc	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 cytoplasmic ribonucleoprotein granule	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISS Inferred from Sequence or Structural Similarity 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 neuron projection	ISS Inferred from Sequence or Structural Similarity more info
located_in nuclear body	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISS Inferred from Sequence or Structural Similarity 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
located_in perikaryon	ISS Inferred from Sequence or Structural Similarity 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)

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)
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)