SMN1

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Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). Survival motor neuron protein also known as component of gems 1 or gemin-1 is a protein that in humans is encoded by the SMN1 gene.[1] Two transcript variants are produced by this gene.[2]

Gene

This gene is 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. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein.[2]

Clinical significance

Mutations in the telomeric copy of this gene are associated with spinal muscular atrophy; mutations in the centromeric copy do not lead to disease. The centromeric copy may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes 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.[2]

Function

The protein encoded by this gene contains Gemin2-binding, Tudor and YG-Box domains.[3] It localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein.[2]

Interactions

SMN1 has been shown to interact with:

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See also

References

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Further reading

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External links

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