SMNDC1
Gene Information
- Official Symbol: SMNDC1
- Official Name: survival motor neuron domain containing 1
- Aliases and Previous Symbols: N/A
- Entrez ID: 10285
- UniProt: O75940
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez Summary: 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].
- UniProt Summary: Necessary for spliceosome assembly. Overexpression causes apoptosis. {ECO:0000269|PubMed:11331295, ECO:0000269|PubMed:11331595, ECO:0000269|PubMed:9817934}.
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 1318
- Expression level (log2 read counts): 5.77