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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
Protein SMN1 PDB 1g5v.png
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
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 IDsMGI: 109257 HomoloGene: 292 GeneCards: SMN1
Gene location (Human)
Chromosome 5 (human)
Chr.Chromosome 5 (human)[1]
Chromosome 5 (human)
Genomic location for SMN1
Genomic location for SMN1
Band5q13.2Start70,925,030 bp[1]
End70,953,942 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000344
NM_001297715
NM_022874

NM_001252629
NM_011420

RefSeq (protein)

NP_001239558
NP_035550

Location (UCSC)Chr 5: 70.93 – 70.95 MbChr 13: 100.12 – 100.14 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Contents

GeneEdit

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 kb 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 significanceEdit

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.

ReferencesEdit

  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:".
  4. ^ "Mouse PubMed Reference:".
  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 readingEdit

External linksEdit

  • 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.