Gene Symbol | SMNDC1 |
---|---|
Entrez Gene | 10285 |
Alt Symbol | SMNR, SPF30, TDRD16C |
Species | Human |
Gene Type | protein-coding |
Description | survival motor neuron domain containing 1 |
Other Description | 30 kDa splicing factor SMNrp|SMN-related protein|splicing factor 30, survival of motor neuron-related|survival motor neuron domain-containing protein 1|survival of motor neuron-related-splicing factor 30|tudor domain containing 16C |
Swissprots | Q5T3K6 O75940 D3DRB1 B2RA27 |
Accessions | EAW49561 EAW49562 EAW49563 EAW49564 O75940 AF083385 AAC64086 AF107463 AAC84148 AK314013 BAG36724 BC011234 AAH11234 BC039110 BQ694303 XM_005269382 XP_005269439 NM_005871 NP_005862 |
Function | Necessary for spliceosome assembly. Overexpression causes apoptosis. {ECO:0000269|PubMed:11331295, ECO:0000269|PubMed:11331595, ECO:0000269|PubMed:9817934}. |
Subcellular Location | Nucleus speckle. Nucleus, Cajal body. Note=Detected in nuclear speckles containing snRNP and in Cajal (coiled) bodies. |
Tissue Specificity | Detected at intermediate levels in skeletal muscle, and at low levels in heart and pancreas. {ECO:0000269|PubMed:9817934}. |
Top Pathways | Spliceosome |