SMN1 (survival of motor neuron 1, telomeric)

2014-10-01  

Identity

HGNC
LOCATION
5q13.2
LOCUSID
ALIAS
BCD541,GEMIN1,SMA,SMA1,SMA2,SMA3,SMA4,SMA@,SMN,SMNT,T-BCD541,TDRD16A

Other Information

Locus ID:

NCBI: 6606
MIM: 600354
HGNC: 11117
Ensembl: ENSG00000172062

Variants:

dbSNP: 6606
ClinVar: 6606
TCGA: ENSG00000172062
COSMIC: SMN1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000172062ENST00000351205Q16637
ENSG00000172062ENST00000380707Q16637
ENSG00000172062ENST00000503079Q16637
ENSG00000172062ENST00000506163Q16637
ENSG00000172062ENST00000506239E7EQZ4
ENSG00000172062ENST00000507905H0YBZ9
ENSG00000172062ENST00000514951B4DP61
ENSG00000172062ENST00000625245E7EQZ4

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9

Pathways

PathwaySourceExternal ID
RNA transportKEGGko03013
RNA transportKEGGhsa03013
Survival motor neuron (SMN) complexKEGGhsa_M00426
Survival motor neuron (SMN) complexKEGGM00426
Gene ExpressionREACTOMER-HSA-74160
Metabolism of non-coding RNAREACTOMER-HSA-194441
snRNP AssemblyREACTOMER-HSA-191859

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
117912082002Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy.234
124595872002Essential role for the SMN complex in the specificity of snRNP assembly.217
164496462006Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron.158
191037452009Regulation of SMN protein stability.122
128787042003Active transport of the survival motor neuron protein and the role of exon-7 in cytoplasmic localization.95
117928062001snRNP protein expression enhances the formation of Cajal bodies containing p80-coilin and SMN.61
216729192011Temporal requirement for high SMN expression in SMA mice.61
214829192011Spinal muscular atrophy: a timely review.60
221019372011Structural basis for dimethylarginine recognition by the Tudor domains of human SMN and SPF30 proteins.59
118750522002SRp30c-dependent stimulation of survival motor neuron (SMN) exon 7 inclusion is facilitated by a direct interaction with hTra2 beta 1.54

Citation

Dessen P

SMN1 (survival of motor neuron 1, telomeric)

Atlas Genet Cytogenet Oncol Haematol. 2014-10-01

Online version: http://atlasgeneticsoncology.org/gene/54929/smn1