smn-1 Tudor domain-containing protein [Caenorhabditis elegans] - Gene

Summary

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Official Symbol: smn-1
Official Full Name: Tudor domain-containing protein
Primary source: WormBase:WBGene00004887
Locus tag: CELE_C41G7.1
See related: AllianceGenome:WB:WBGene00004887
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Caenorhabditis elegans (strain: Bristol N2)
Lineage: Eukaryota; Metazoa; Ecdysozoa; Nematoda; Chromadorea; Rhabditida; Rhabditina; Rhabditomorpha; Rhabditoidea; Rhabditidae; Peloderinae; Caenorhabditis
Summary: Involved in several processes, including determination of adult lifespan; nematode pharyngeal pumping; and vulval development. Located in nucleus. Is expressed in several structures, including body wall musculature; excretory cell; hypodermis; intestine; and vulval muscle. 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 human SMN1 (survival of motor neuron 1, telomeric) and SMN2 (survival of motor neuron 2, centromeric). [provided by Alliance of Genome Resources, Dec 2024]
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Genomic context

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See smn-1 in Genome Data Viewer

Location:: chromosome: I

Exon count:: 5

Sequence:: Chromosome: I; NC_003279.8 (9511174..9512236, complement)

Chromosome I - NC_003279.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:: NC_003279.8

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Diminished SMN-1 levels caused defects in neuromuscular function, and smn-1 genetic interactions were consistent with an endocytic defect.
Title: Decreased function of survival motor neuron protein impairs endocytic pathways.
Collectively, these results suggest decreased SMN leads to defective microRNA function via MEL-46 misregulation, followed by increased M2 muscarinic receptor expression, and neuronal dysfunction in Spinal Muscular Atrophy.
Title: Decreased microRNA levels lead to deleterious increases in neuronal M2 muscarinic receptors in Spinal Muscular Atrophy models.
Major sperm protein domain (MSPd) of VAPB homolog VPR-1 signaling is sufficient to remodel the muscle mitochondrial reticulum during adulthood. An RNAi suppressor screen identified survival of motor neuron 1 (SMN-1) as a downstream effector.
Title: The secreted MSP domain of C. elegans VAPB homolog VPR-1 patterns the adult striated muscle mitochondrial reticulum via SMN-1.
We show that genes of the classical apoptosis pathway are involved in the smn-1-mediated neuronal death, and that this phenotype can be rescued by the expression of human SMN1, indicating a functional conservation between the two orthologs. Finally, we determined that Plastin3/plst-1 genetically interacts with smn-1 to prevent degeneration, and that treatment with valproic acid is able to rescue the degenerative phenotype
Title: Neuron-specific knock-down of SMN1 causes neuron degeneration and death through an apoptotic mechanism.
Data indicate that knocking down Y47D3A.22/mib-1 improves neuromuscular function in Caenorhabditis elegans deficient in SMN-1.
Title: The E3 ubiquitin ligase mind bomb 1 ubiquitinates and promotes the degradation of survival of motor neuron protein.
Smn-1 deletion produces a pleiotropic phenotype including late larval arrest, reduced lifespan, sterility and impaired locomotion and pharyngeal activity.
Title: Deletion of smn-1, the Caenorhabditis elegans ortholog of the spinal muscular atrophy gene, results in locomotor dysfunction and reduced lifespan.

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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

C41G7.1 (e-PCR)
- UniSTS:320887

Homology

Orthologs from OrthoDB

Gene Ontology Provided by WormBase

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in RNA splicing	IEA Inferred from Electronic Annotation more info
involved_in determination of adult lifespan	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryo development ending in birth or egg hatching	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in germ cell development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in locomotion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mRNA processing	IEA Inferred from Electronic Annotation more info
involved_in nematode larval development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nematode pharyngeal pumping	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vulval development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: Tudor domain-containing protein

NP_001366985.1

Confirmed by transcript evidence

NP_001379187.1

Partially confirmed by transcript evidence

NCBI Reference Sequences (RefSeq)

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Genome Annotation

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

Reference assembly

Genomic

NC_003279.8 Reference assembly

Range

9511174..9512236 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001392831.1 → NP_001379187.1 Tudor domain-containing protein [Caenorhabditis elegans]

Status: REVIEWED

UniProtKB/TrEMBL

G5EFQ8

Conserved Domains (1) summary

pfam06003
Location:5 → 189

SMN; Survival motor neuron protein (SMN)
NM_001381073.1 → NP_001366985.1 Tudor domain-containing protein [Caenorhabditis elegans]

Status: REVIEWED

UniProtKB/TrEMBL

G5EC16

Conserved Domains (1) summary

pfam06003
Location:15 → 199

SMN; Survival motor neuron protein (SMN)