Smn survival motor neuron [Drosophila melanogaster (fruit fly)] - Gene

Summary

Official Symbol: Smnprovided by FlyBase
Official Full Name: survival motor neuronprovided by FlyBase
Primary source: FLYBASE:FBgn0036641
Locus tag: Dmel_CG16725
See related: AllianceGenome:FB:FBgn0036641
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Drosophila melanogaster
Lineage: Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
Also known as: CG16725; Dmel\CG16725; DmSMN; dSmn; dSMN; l(3)73Ao; smn; SMN
Summary: Enables alpha-actinin binding activity. Involved in several processes, including chemical synaptic transmission; protein-RNA complex assembly; and synapse organization. Located in Z disc; neuromuscular junction; and nuclear body. Part of several cellular components, including SMN complex; SMN-Gemin2 complex; and SmD-containing SMN-Sm protein complex. Is expressed in several structures, including adult head; anterior endoderm anlage; ganglia; germline cell; and gonad. Used to study childhood spinal muscular atrophy; intermediate spinal muscular atrophy; juvenile spinal muscular atrophy; and 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]
Orthologs: all
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Genomic context

Location:: 73A9-73A9; 3-44 cM

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
Release 6.54	current	Release 6 plus ISO1 MT (GCF_000001215.4)	3L	NT_037436.4 (16580398..16581547, complement)
Release 5.57	previous assembly	Release 5 (GCF_000001215.2)	3L	NT_037436.3 (16573498..16574647, complement)

Chromosome 3L - NT_037436.4 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Motor defects in a Drosophila model for spinal muscular atrophy result from SMN depletion during early neurogenesis.
Title: Motor defects in a Drosophila model for spinal muscular atrophy result from SMN depletion during early neurogenesis.
Temperature-sensitive spinal muscular atrophy-causing point mutations lead to SMN instability, locomotor defects and premature lethality in Drosophila.
Title: Temperature-sensitive spinal muscular atrophy-causing point mutations lead to SMN instability, locomotor defects and premature lethality in Drosophila.
SCFSlmb interacts with a phosphor degron embedded within the human and fruitfly SMN YG-box oligomerization domains. Substitution of a conserved serine (S270A) interferes with SCFSlmb binding and stabilizes SMNDelta7. Spinal muscular atrophy (SMA)-causing missense mutations that block multimerization of full-length SMN are also stabilized in the degron mutant background.
Title: Self-oligomerization regulates stability of survival motor neuron protein isoforms by sequestering an SCF(Slmb) degron.
Role of SMN in oogenesis: key requirement for mRNA trafficking.
Title: Genetic screen identifies a requirement for SMN in mRNA localisation within the Drosophila oocyte.
Intragenic complementation analyses reveal the potential for dominant negative interactions between wild-type and mutant SMN subunits, highlighting the essential nature of the YG box in formation of higher-order SMN multimers.
Title: SMA-causing missense mutations in survival motor neuron (Smn) display a wide range of phenotypes when modeled in Drosophila.
Smn mutants displayed a prominent increase in levels of stress-responsive transcripts, indicating a systemic response to the developmental arrest induced by loss of SMN protein
Title: Developmental arrest of Drosophila survival motor neuron (Smn) mutants accounts for differences in expression of minor intron-containing genes.
A unique interactome for SMN provides a knowledge base for a better understanding of spinal muscular atrophy.
Title: Genetic circuitry of Survival motor neuron, the gene underlying spinal muscular atrophy.
Our results uncover a hitherto under-appreciated role for SMN in homeostatic regulatory mechanisms at motor synapses.
Title: Behavioral and electrophysiological outcomes of tissue-specific Smn knockdown in Drosophila melanogaster.
SMN's role in small nuclear ribonucleoproteins biogenesis can be uncoupled from the organismal viability and locomotor defects.
Title: A Drosophila model of spinal muscular atrophy uncouples snRNP biogenesis functions of survival motor neuron from locomotion and viability defects.
Study shows that SMN deficiency perturbs splicing and decreases the expression of a subset of U12 intron-containing genes in mammalian cells and Drosophila larvae.
Title: An SMN-dependent U12 splicing event essential for motor circuit function.

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Homology

NCBI Orthologs

Orthologs from OrthoDB

Gene Ontology Provided by FlyBase

Function	Evidence Code	Pubs
enables RNA binding	IEA Inferred from Electronic Annotation more info
enables alpha-actinin binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in AMPA glutamate receptor clustering	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in P-body assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in basal protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in central nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chromosome organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cytoplasmic U snRNP body assembly	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 excitatory postsynaptic potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in larval development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in larval locomotory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lumen formation, open tracheal system	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mRNA processing	IEA Inferred from Electronic Annotation more info
involved_in mRNA splicing, via spliceosome	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuromuscular junction development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuromuscular synaptic transmission	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in oocyte morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of synaptic assembly at neuromuscular junction	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of synaptic transmission, cholinergic	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein-RNA complex assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in spliceosomal snRNP assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in spliceosomal snRNP assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in stem cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in stem cell division	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in stem cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in terminal button organization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Cajal body	IDA Inferred from Direct Assay more info	PubMed
located_in Gemini of coiled bodies	IDA Inferred from Direct Assay more info	PubMed
located_in I band	IDA Inferred from Direct Assay more info	PubMed
part_of SMN complex	IDA Inferred from Direct Assay more info	PubMed
part_of SMN complex	IGI Inferred from Genetic Interaction more info	PubMed
part_of SMN-Gemin2 complex	IDA Inferred from Direct Assay more info	PubMed
part_of SmD-containing SMN-Sm protein complex	IDA Inferred from Direct Assay more info	PubMed
located_in Z disc	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
part_of cytoplasmic U snRNP body	IDA Inferred from Direct Assay more info	PubMed
located_in neuromuscular junction	IDA Inferred from Direct Assay more info	PubMed
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: survival motor neuron

Names: CG16725-PA; CG16725-PB; Smn-PA; Smn-PB; survival of motor neurons

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

NT_037436.4 Reference assembly

Range

16580398..16581547 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001275025.1 → NP_001261954.1 survival motor neuron, isoform B [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_001261954.1

Status: REVIEWED

UniProtKB/Swiss-Prot

Q9VV74

Conserved Domains (2) summary

pfam06003
Location:2 → 215

SMN; Survival motor neuron protein (SMN)

cl02573
Location:68 → 122

TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
NM_079388.4 → NP_524112.1 survival motor neuron, isoform A [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_524112.1

Status: REVIEWED

UniProtKB/Swiss-Prot

Q9VV74

Related

FBpp0075153

Conserved Domains (2) summary

pfam06003
Location:2 → 215

SMN; Survival motor neuron protein (SMN)

cl02573
Location:68 → 122

TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...