Version 5.4
Homo sapiens Gene: SMNDC1
Summary
InnateDB Gene IDBG-89333.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SMNDC1
Gene Name survival motor neuron domain containing 1
Synonyms SMNR; SPF30; TDRD16C
Species Homo sapiens
Ensembl Gene ENSG00000119953
Encoded Proteins
IDBP-89335
survival motor neuron domain containing 1
IDBP-89337
survival motor neuron domain containing 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 10:110290730-110304951
Strand Reverse strand
Band q25.2
Transcripts
ENST00000369603 ENSP00000358616
ENST00000369592 ENSP00000358605
ENST00000460483
ENST00000471297
ENST00000477763
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000025024
View Gene Order
ENSBTAG00000000551
Not yet available
Pathways
NETPATH
REACTOME
KEGG
hsa03040
Spliceosome pathway
INOH
PID NCI
Cross-References
SwissProt O75940
TrEMBL
UniProt Splice Variant
Entrez Gene 10285
UniGene
RefSeq NM_005871
HUGO HGNC:16900
OMIM 603519
CCDS CCDS7565
HPRD
IMGT
EMBL AF083385 AF107463 AK314013 AL360182 BC011234 CH471066
GenPept AAC64086 AAC84148 AAH11234 BAG36724 CAI15482 EAW49561 EAW49562 EAW49564
RNA Seq Atlas 10285

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca