Smn1 survival of motor neuron 1, telomeric [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Smn1provided by RGD
Official Full Name: survival of motor neuron 1, telomericprovided by RGD
Primary source: RGD:620755
See related: Ensembl:ENSRNOG00000018067 AllianceGenome:RGD:620755
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: Smn
Summary: Enables fibroblast growth factor binding activity. Involved in chemical synaptic transmission. Located in Gemini of coiled bodies; cytoplasm; and nucleolus. 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: Biased expression in Thymus (RPKM 109.2), Spleen (RPKM 84.7) and 9 other tissues See more
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Genomic context

Location:: 2q12

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	2	NC_086020.1 (33224115..33235162)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	2	NC_051337.1 (31490018..31501065)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	2	NC_005101.4 (30360101..30371147)

Chromosome 2 - NC_086020.1 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: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

-SMN and FL-SMN are needed for neuronal polarization and organization of axonal and dendritic compartments, processes that are fundamental for neuronal function and survival
Title: Axon outgrowth and neuronal differentiation defects after a-SMN and FL-SMN silencing in primary hippocampal cultures.
Report decreased number of motor neurons and a decrease of SMN1 protein expression in spinal cords of rats exposed to uranyl nitrate.
Title: Chronic uranium contamination alters spinal motor neuron integrity via modulation of SMN1 expression and microglia recruitment.
Reduced SMN protein level alters miRNA expression and distribution in neurons.
Title: SMN regulates axonal local translation via miR-183/mTOR pathway.
Involvement of SMN in formation of stress granules may play an important role in cell survival.
Title: SMN deficiency reduces cellular ability to form stress granules, sensitizing cells to stress.
RNAi-mediated degradation of endogenous Elk-1 resulted in elimination of the mcl-1 message
Title: ETS-domain transcription factor Elk-1 mediates neuronal survival: SMN as a potential target.
Smn knockdown in PC12 cells alters the expression pattern of profilin II, resulting in an increase in the neuronal-specific profilin IIa isoform.
Title: Smn depletion alters profilin II expression and leads to upregulation of the RhoA/ROCK pathway and defects in neuronal integrity.
Forced expression of a-SMN isoform stimulates motor neuron axonogenesis in a time-dependent fashion and induces axonal-like growth in non-neuronal cells.
Title: Axonal-SMN (a-SMN), a protein isoform of the survival motor neuron gene, is specifically involved in axonogenesis.
Data show differential localization of the 18- and 23-kDa fibroblast growth factor 2 isoforms in the nuclei of rat Schwann cells, and that the 23-kDa isoform co-immunoprecipitates specifically with the survival of motor neuron protein.
Title: Differential intranuclear localization of fibroblast growth factor-2 isoforms and specific interaction with the survival of motoneuron protein.
SMN interacts with non-methylated EWS and an EWS-derived RG-containing peptide. Symmetrical dimethylation of the EWS-derived RG-peptide increases the dissociation rate between SMN and the symmetrical dimethylated EWS RG-peptide.
Title: The Ewing's sarcoma protein interacts with the Tudor domain of the survival motor neuron protein.
selective overexpression of the SMN C-terminal domain promoted neurite outgrowth similar to full-length protein and could rescue the SMN knock-down effects
Title: The spinal muscular atrophy gene product regulates neurite outgrowth: importance of the C terminus.

Submit: New GeneRIF Correction See all GeneRIFs (12)

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

BE116734 (e-PCR)
- UniSTS:248532

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

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables RNA binding	IEA Inferred from Electronic Annotation more info
enables fibroblast growth factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in DNA-templated transcription termination	ISO Inferred from Sequence Orthology more info
involved_in DNA-templated transcription termination	ISS Inferred from Sequence or Structural Similarity more info
involved_in RNA splicing	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within axonogenesis	ISO Inferred from Sequence Orthology more info
involved_in chemical synaptic transmission	IEP Inferred from Expression Pattern more info	PubMed
involved_in mRNA processing	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within microtubule depolymerization	ISO Inferred from Sequence Orthology more info
involved_in nervous system development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of RNA splicing	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of neuron projection development	ISO Inferred from Sequence Orthology more info
involved_in spliceosomal complex assembly	ISO Inferred from Sequence Orthology more info
involved_in spliceosomal snRNP assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in spliceosomal snRNP assembly	ISO Inferred from Sequence Orthology 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	ISO Inferred from Sequence Orthology more info
is_active_in Cajal body	IBA Inferred from Biological aspect of Ancestor more info
located_in Cajal body	IEA Inferred from Electronic Annotation more info
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	IDA Inferred from Direct Assay more info	PubMed
located_in Gemini of coiled bodies	IEA Inferred from Electronic Annotation more info
located_in Gemini of coiled bodies	ISO Inferred from Sequence Orthology more info
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
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	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	ISO Inferred from Sequence Orthology more info
located_in neuron projection	IEA Inferred from Electronic Annotation more info
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	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
located_in perikaryon	IEA Inferred from Electronic Annotation 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 motor neuron 1

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_022509.2 → NP_071954.2 survival motor neuron protein

Status: VALIDATED

Source sequence(s)

JAXUCZ010000002

UniProtKB/Swiss-Prot

O35876, O55045

UniProtKB/TrEMBL

Q6P684

Related

ENSRNOP00000076972.1, ENSRNOT00000118709.1

Conserved Domains (1) summary

pfam06003
Location:24 → 280

SMN; Survival motor neuron protein (SMN)