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Available structures
PDBOrtholog search: PDBe RCSB
AliasesSMN1, BCD541, GEMIN1, SMNT, T-BCD541, TDRD16A, survival of motor neuron 1, telomeric, survival motor neuron 1, telomeric, SMA1, SMA4, SMA@, SMA2, SMA, SMA3, SMN
External IDsOMIM: 600354 MGI: 109257 HomoloGene: 292 GeneCards: SMN1
RefSeq (mRNA)



RefSeq (protein)


Location (UCSC)Chr 5: 70.93 – 70.95 MbChr 13: 100.26 – 100.27 Mb
PubMed search[3][4]
View/Edit HumanView/Edit Mouse

Survival of motor neuron 1 (SMN1), also known as component of gems 1 or GEMIN1, is a gene that encodes the SMN protein in humans.[5][6]


SMN1 is the telomeric copy of the gene encoding the SMN protein; the centromeric copy is termed SMN2. SMN1 and SMN2 are part of a 500 kbp inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. SMN1 and SMN2 are nearly identical and encode the same protein.[6] The critical sequence difference between the two is a single nucleotide in exon 7 which is thought to be an exon splice enhancer. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene.[6]

Clinical significance[edit]

Mutations in SMN1 are associated with spinal muscular atrophy. Mutations in SMN2 alone do not lead to disease, although mutations in both SMN1 and SMN2 result in embryonic death.[citation needed]


  1. ^ a b c ENSG00000172062 GRCh38: Ensembl release 89: ENSG00000275349, ENSG00000172062 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021645 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M (January 1995). "Identification and characterization of a spinal muscular atrophy-determining gene". Cell. 80 (1): 155–65. doi:10.1016/0092-8674(95)90460-3. PMID 7813012.
  6. ^ a b c "Entrez Gene: SMN1 survival of motor neuron 1, telomeric".

Further reading[edit]

External links[edit]

  • Prior TW, Russman BS (2013). Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJ, Bird TD, Fong CT, Mefford HC, Smith RJ, Stephens K (eds.). "Spinal Muscular Atrophy". GeneReviews [Internet]. PMID 20301526.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.