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Smn1
Gene Detail
Symbol

Name
ID
Smn1
survival motor neuron 1
MGI:109257
Synonyms
SMN
Feature Type
protein coding gene
Genetic Map
Chromosome 13
52.99 cM, cytoband D1/D2.1
Detailed Genetic Map ± 1 cM


Mapping data(18)
Sequence Map
Chr13:100124852-100137690 bp, + strand
From VEGA annotation of GRCm38

  12839 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:292  Vertebrate Homology Class
2 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: SMN1, SMN2
Protein SuperFamily: survival motor neuron protein
Gene Tree: Smn1

Human
homologs
SMN1, survival of motor neuron 1, telomeric
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 6606
neXtProt AC: NX_Q16637

Human Synonyms: BCD541, GEMIN1, SMA, SMA@, SMA1, SMA2, SMA3, SMA4, SMN, SMNT, T-BCD541, TDRD16A

Human Chr (Location): 5q13.2; chr5:70924941-70953015 (+)  GRCh38.p2

Disease Associations: (4) Diseases Associated with Human SMN1

  1 More Homolog(s):
Mutations,
alleles, and
phenotypes
All mutations/alleles(32) : Gene trapped(1) Targeted(15) Transgenic(16)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes for targeted null mutations exhibit cell loss and peri-implantation lethality. Muscle-specific KO mice show muscle necrosis leading to paralysis and death. Neuron-specific KO mice show muscle degeneration associated with loss of motor axons.
 
Human Diseases Modeled in Mice Using Smn1 (2)    Mutations Annotated to Human Diseases (17)   
Interactions
Smn1 interacts with 46 markers (Mir18b, Mir19b-1, Mir19b-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (30 annotations)
Process axonogenesis, microtubule depolymerization, ...
Component Cajal body, cytoplasm, ...
Function fibroblast growth factor binding, identical protein binding, ...
External Resources: FuncBase
Expression
Literature Summary: (15 records)
Data Summary: Results (149)    Tissues (47)    Images (16)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 21
Northern blot 28
Western blot 75
RT-PCR 25
cDNA source data(60)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: ZFIN smn1    NEW 
Molecular
reagents
All nucleic(108) Genomic(34) cDNA(63) Primer pair(10) Other(1)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000033496 (Evidence)
Ensembl Gene Model ENSMUSG00000021645 (Evidence)
Entrez Gene 20595 (Evidence)
UniGene 2025
DFCI TC1741931, TC1729948, TC1577124
DoTS DT.491258, DT.110956482, DT.91397968, DT.97374518, DT.94274009, DT.94274008
NIA Mouse Gene Index U015186
Consensus CDS Project CCDS26725.1
International Mouse Phenotyping Consortium Status Smn1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000033496 VEGA Gene Model | MGI Sequence Detail 12839 C57BL/6J ±  kb
transcript OTTMUST00000084239 VEGA | MGI Sequence Detail 1222 Not Applicable 
polypeptide OTTMUSP00000045374 VEGA | MGI Sequence Detail 288 Not Applicable 

For the selected sequences
All sequences(81) RefSeq(8) UniProt(8)
Polymorphisms
PCR(4) : SNPs within 2kb(85 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR010304 Survival motor neuron
InterPro IPR002999 Tudor domain
Protein Ontology PR:000026269 survival motor neuron protein
References
(Earliest) J:42981 Lefebvre S, et al., Identification and characterization of a spinal muscular atrophy-determining gene [see comments]. Cell. 1995 Jan 13;80(1):155-65
(Latest) J:221676 Miller N, et al., Non-aggregating tau phosphorylation by cyclin-dependent kinase 5 contributes to motor neuron degeneration in spinal muscular atrophy. J Neurosci. 2015 Apr 15;35(15):6038-50
All references(201)
Disease annotation references (18)
Other
accession IDs
MGD-MRK-38302, MGI:2145301

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory