smn1 survival of motor neuron 1, telomeric [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: smn1provided by ZNC
Official Full Name: survival of motor neuron 1, telomericprovided by ZNC
Primary source: ZFIN:ZDB-GENE-990715-16
See related: Ensembl:ENSDARG00000018494 AllianceGenome:ZFIN:ZDB-GENE-990715-16
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: smn; fa12d01; wu:fa12d01
Summary: Predicted to enable RNA binding activity. Acts upstream of or within several processes, including neuron projection development; positive regulation of oxidative phosphorylation; and synaptic assembly at neuromuscular junction. Part of protein-containing complex. Is expressed in brain; eye; liver; post-vent region; and trunk. Used to study 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 SMN1 (survival of motor neuron 1, telomeric). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: all
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Genomic context

Location:: chromosome: 5

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	5	NC_007116.7 (43798348..43805610, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	5	NC_007116.6 (43198195..43205457, complement)

Chromosome 5 - NC_007116.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

we established that the additional supply of Smn protein in motoneurons is necessary for proper axonogenesis in a cell-autonomous manner
Title: Transcriptional enhancement of Smn levels in motoneurons is crucial for proper axon morphology in zebrafish.
In motor neurons, smn1 interacts with the RNA binding protein, HuD and regulates motoneuron development and function.
Title: HuD and the Survival Motor Neuron Protein Interact in Motoneurons and Are Essential for Motoneuron Development, Function, and mRNA Regulation.
our finding that elevation of Pgk1 levels or activity, via injection of Pgk1 mRNA or treatment with terazosin respectively, robustly ameliorated MN pathology in smn morphant zebrafish provides an initial demonstration that these pathways are amenable to therapeutic intervention.
Title: Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy.
Reduction of Gemin2, unlike reduction of SMN, in zebrafish embryos does not directly cause motor axon outgrowth defects.
Title: The SMN binding protein Gemin2 is not involved in motor axon outgrowth.
SMN deficiency affects splicing and abundance of nrxn2a. This may explain the pre-synaptic defects at neuromuscular endplates in SMA pathophysiology.
Title: SMN deficiency alters Nrxn2 expression and splicing in zebrafish and mouse models of spinal muscular atrophy.
SMN is needed early in development of motoneuron dendrites and axons to develop normally and that this is essential for proper connectivity and movement.
Title: Temporal requirement for SMN in motoneuron development.
Smn mutants in zebrafish survive to larval stages and exhibit presynaptic neuromuscular junction defects.
Title: Zebrafish survival motor neuron mutants exhibit presynaptic neuromuscular junction defects.
Since Gemin2 and SMN both function in snRNP biogenesis yet only SMN knockdown causes motor axon defects, these data are consistent with an additional role for SMN that is snRNP independent.
Title: The SMN binding protein Gemin2 is not involved in motor axon outgrowth.
Survival motor neuron has a novel function in motor neurons independent of small nuclear ribonucleoprotein (snRNP) biosynthesis.
Title: Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis.
These results show that survival motor neuron functions in motor axon development and suggest that these early developmental defects may lead to subsequent motoneuron loss.
Title: Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding.

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General gene information

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Markers

fa12d01.s1 (e-PCR)
- UniSTS:202340

fa16d10.s1 (e-PCR)
- UniSTS:189596

Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables RNA binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within RNA splicing	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within axon arborization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within axon development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within axon extension	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within axonogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within axonogenesis	IPI Inferred from Physical Interaction more info	PubMed
acts_upstream_of_or_within dendrite development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mRNA processing	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within mRNA splicing, via spliceosome	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within motor neuron axon guidance	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 neuromast regeneration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuromuscular junction development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within neuromuscular junction development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron cellular homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within peripheral nervous system neuron axonogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of oxidative phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein complex oligomerization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of axon extension involved in axon guidance	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of axon extension involved in axon guidance	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of neuromuscular junction development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in spliceosomal snRNP assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within synaptic assembly at neuromuscular junction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within tissue regeneration	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in Cajal body	IBA Inferred from Biological aspect of Ancestor 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	ISS Inferred from Sequence or Structural Similarity more info
part_of SMN complex	IBA Inferred from Biological aspect of Ancestor more info
part_of SMN complex	ISS Inferred from Sequence or Structural Similarity more info
located_in Z disc	IEA Inferred from Electronic Annotation more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasmic ribonucleoprotein granule	ISS Inferred from Sequence or Structural Similarity more info
located_in neuron projection	ISS Inferred from Sequence or Structural Similarity 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	IEA Inferred from Electronic Annotation more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
located_in perikaryon	ISS Inferred from Sequence or Structural Similarity more info
part_of protein-containing complex	IPI Inferred from Physical Interaction more info	PubMed
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info	PubMed
part_of spliceosomal complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: survival motor neuron protein 1

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.