| 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
|