Gene

smn1

ID

ZDB-GENE-990715-16

Name

survival of motor neuron 1, telomeric

Symbol

smn1 Nomenclature History

Previous Names

smn (1)
fa12d01
wu:fa12d01 (1)

Type

protein_coding_gene

Location

Chr: 5 Mapping Details/Browsers

Description

Predicted to have RNA binding activity. Involved in several processes, including generation of neurons; mRNA splicing, via spliceosome; and positive regulation of oxidative phosphorylation. Localizes to protein-containing complex. 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. Is expressed in liver and post-vent region. Orthologous to several human genes including SMN2 (survival of motor neuron 2, centromeric).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

13 figures from 10 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 53 figures from 28 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With smn1 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
adult spinal muscular atrophy	Alliance	Spinal muscular atrophy-4	271150
intermediate spinal muscular atrophy	Alliance	Spinal muscular atrophy-2	253550
juvenile spinal muscular atrophy	Alliance	Spinal muscular atrophy-3	253400
Werdnig-Hoffmann disease	Alliance	Spinal muscular atrophy-1	253300

Associated With smn1 Via Experimental Models

Human Disease	Fish	Conditions	Citations
spinal muscular atrophy	vu12Tg + MO1-smn1	standard conditions	Miller et al., 2015
spinal muscular atrophy	os26Tg + MO1-smn1	control	Wiley et al., 2014
spinal muscular atrophy	smn1^fh229/fh229	standard conditions	Hao et al., 2015
spinal muscular atrophy	ml2Tg + MO1-smn1	standard conditions	Riessland et al., 2017
spinal muscular atrophy	WT + MO1-smn1	standard conditions	(4)
spinal muscular atrophy	AB + MO1-smn1	standard conditions	(2)

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR002999	Tudor domain
Domain	IPR010304	Survival motor neuron, Tudor domain
Domain	IPR047298	Survival motor neuron protein, Tudor domain, eumetazoa
Domain	IPR047313	Survival motor neuron protein, C-terminal oligomerization domain
Domain	IPR049481	Survival Motor Neuron, Gemin2-binding domain
Family	IPR040424	SMN complex subunit Smn1

Domain Details Per Protein

Protein	Length	SMN complex subunit Smn1	Survival Motor Neuron, Gemin2-binding domain	Survival motor neuron protein, C-terminal oligomerization domain	Survival motor neuron protein, Tudor domain, eumetazoa	Survival motor neuron, Tudor domain	Tudor domain
UniProtKB:Q9W6S8 InterPro	281

Transcripts

Genome Browsers

Type	Name	Annotation Method	Has Havana Data	Length (nt)	Analysis
mRNA	smn1-201 (1) Ensembl	Ensembl		1,019 nt	Select Tool
mRNA	smn1-202 (1) Ensembl	Ensembl		996 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
Ab2-smn1	monoclonal	smn1	IgG1	Mouse	WB	Developmental Studies Hybridoma Bank	9
Ab3-smn1	monoclonal	smn1	IgG1	Mouse	IHC WB	BD Biosciences	5
Ab1-smn1	monoclonal	smn1	IgG1	Mouse	IHC WB	Developmental Studies Hybridoma Bank	5

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations