Homo sapiens Protein: SMNDC1
Summary
InnateDB Protein IDBP-89335.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SMNDC1
Protein Name survival motor neuron domain containing 1
Synonyms SMNR; SPF30; TDRD16C;
Species Homo sapiens
Ensembl Protein ENSP00000358616
InnateDB Gene IDBG-89333 (SMNDC1)
Protein Structure
UniProt Annotation
Function Necessary for spliceosome assembly. Overexpression causes apoptosis. {ECO:0000269PubMed:11331295, ECO:0000269PubMed:11331595, ECO:0000269PubMed:9817934}.
Subcellular Localization Nucleus speckle. Nucleus, Cajal body. Note=Detected in nuclear speckles containing snRNP and in Cajal (coiled) bodies.
Disease Associations
Tissue Specificity Detected at intermediate levels in skeletal muscle, and at low levels in heart and pancreas. {ECO:0000269PubMed:9817934}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 23 experimentally validated interaction(s) in this database.
Experimentally validated
Total 23 [view]
Protein-Protein 23 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003723 RNA binding
GO:0005515 protein binding
GO:0044822 poly(A) RNA binding
Biological Process
GO:0000375 RNA splicing, via transesterification reactions
GO:0006397 mRNA processing
GO:0006915 apoptotic process
GO:0008380 RNA splicing
Cellular Component
GO:0005634 nucleus
GO:0005681 spliceosomal complex
GO:0005737 cytoplasm
GO:0015030 Cajal body
GO:0016607 nuclear speck
GO:0045111 intermediate filament cytoskeleton
Protein Structure and Domains
PDB ID
InterPro IPR002999 Tudor domain
IPR010304 Survival motor neuron
PFAM PF00567
PF06003
PRINTS
PIRSF
SMART SM00333
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt O75940
PhosphoSite PhosphoSite-O75940
TrEMBL
UniProt Splice Variant
Entrez Gene 10285
UniGene
RefSeq NP_005862
HUGO HGNC:16900
OMIM 603519
CCDS CCDS7565
HPRD 04627
IMGT
EMBL AF083385 AF107463 AK314013 AL360182 BC011234 CH471066
GenPept AAC64086 AAC84148 AAH11234 BAG36724 CAI15482 EAW49561 EAW49562 EAW49564