Gene

SMNDC1

Species
Homo sapiens
Symbol
SMNDC1
Name
survival motor neuron domain containing 1
Synonyms
  • 30 kDa splicing factor SMNrp
  • SMN-related protein
Biotype
protein coding gene
Automated Description
Enables RNA binding activity. Predicted to be involved in RNA splicing, via transesterification reactions and apoptotic process. Predicted to be located in nucleoplasm. Predicted to be part of spliceosomal complex. Predicted to be active in nucleus.
RGD Description
This gene is a paralog of SMN1 gene, which encodes the survival motor neuron protein, mutations in which are cause of autosomal recessive proximal spinal muscular atrophy. The protein encoded by this gene is a nuclear protein that has been identified as a constituent of the spliceosome complex. This gene is differentially expressed, with abundant levels in skeletal muscle, and may share similar cellular function as the SMN1 gene. [provided by RefSeq, Jul 2008]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR13681
No data available
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
Gene
Association
Disease Qualifier
Disease
Evidence
Source
Based On
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    Transgenic Alleles

    Models

    Sequence Feature Viewer

    Genome location
    Assembly version
    GRCh38
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    110.292M110.294M110.296M110.298M110.300M110.302M110.304M

    Sequence Details

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    Expression

    Primary Sources
    None
    Other Sources
    Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

    Molecular Interactions

    Genetic Interactions