Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Smn1. (This text reflects annotations as of Wednesday, January 23, 2013.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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. However, mutations in this gene, the telomeric copy, 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. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The protein encoded by this gene 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. Two transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Sep 2008]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Smn1
  • is located in the following cellular components:
    • cytoplasm ^[1]
    • nucleus ^[1]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Smn1
  • participates in the following biological processes:
    • axonogenesis ^[2]
    • microtubule depolymerization ^[2]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Smn1:
  • performs the following molecular functions:
    • fibroblast growth factor binding
  • is located in the following cellular components:
    • Cajal body
    • cytoplasm
    • nucleolus

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Summary text based on GO annotations supported by structural data

• Smn1 encodes a protein or proteins that contain the following InterPro domains: Survival motor neuron, Tudor domain, indicating that the gene product:
  • participates in the following biological processes:
    • mRNA processing
  • performs the following molecular functions:
    • RNA binding

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Smn1 indicates that it:
  • participates in the following biological processes:
    • mRNA processing
    • RNA splicing
  • performs the following molecular functions:
    • RNA binding
  • is located in the following cellular components:
    • spliceosomal complex

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References

1. Jablonka S et al. (2001) Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophy. Hum Mol Genet, 10:497-505. (PubMed:11181573)
2. Wen HL et al. (2010) Stathmin, a microtubule-destabilizing protein, is dysregulated in spinal muscular atrophy. Hum Mol Genet, 19:1766-78. (PubMed:20176735)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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