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 neuron projection development; positive regulation of oxidative phosphorylation; and regulation of axon extension involved in axon guidance. Localizes to protein-containing complex. Is expressed in liver and post-vent region. 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 SMN2 (survival of motor neuron 2, centromeric).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
10 figures from 7 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
44 figures from 25 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
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR002999 Tudor domain
Domain IPR010304 Survival motor neuron
Domain Details Per Protein
Protein Length Survival motor neuron Tudor domain
UniProtKB:Q6P934 279
UniProtKB:O93420 285
UniProtKB:Q9W6S8 281
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab2-smn1 monoclonal IgG1 Mouse
  • WB
Developmental Studies Hybridoma Bank
9
Ab3-smn1 monoclonal IgG1 Mouse
  • WB
BD Biosciences
4
Ab1-smn1 monoclonal IgG1 Mouse
Developmental Studies Hybridoma Bank
4
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations