Survival motor neuron domain containing 1

Survival of motor neuron-related-splicing factor 30 (SMNDC1) is a protein that in humans is encoded by the SMNDC1 gene.^[5][6][7]

SMNDC1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4A4F, 4A4H
Identifiers
Aliases	SMNDC1, SMNR, SPF30, TDRD16C, Survival motor neuron domain containing 1
External IDs	OMIM: 603519; MGI: 1923729; HomoloGene: 4290; GeneCards: SMNDC1; OMA:SMNDC1 - orthologs
Gene location (Human) Chr. Chromosome 10 (human)[1] Band 10q25.2 Start 110,290,730 bp[1] End 110,304,938 bp[1]
Gene location (Mouse) Chr. Chromosome 19 (mouse)[2] Band 19|19 D2 Start 53,367,821 bp[2] End 53,379,009 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in amniotic fluid buccal mucosa cell germinal epithelium cartilage tissue gingival epithelium parietal pleura retinal pigment epithelium jejunal mucosa palpebral conjunctiva biceps brachii Top expressed in cumulus cell endocardial cushion plantaris muscle granulocyte epiblast atrioventricular valve migratory enteric neural crest cell abdominal wall cardiac muscle tissue of left ventricle primitive streak More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding RNA binding Cellular component spliceosomal complex Cajal body cytoplasm nucleus nuclear speck nucleoplasm Biological process RNA splicing mRNA processing RNA splicing, via transesterification reactions apoptotic process mRNA splicing, via spliceosome Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10285 76479 Ensembl ENSG00000119953 ENSMUSG00000025024 UniProt O75940 Q8BGT7 RefSeq (mRNA) NM_005871 NM_172429 NM_001356986 RefSeq (protein) NP_005862 NP_766017 NP_001343915 Location (UCSC) Chr 10: 110.29 – 110.3 Mb Chr 19: 53.37 – 53.38 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

SMNDC1 is an important splicing regulator^[8] and is itself regulated by alternative splicing via inclusion a highly conserved poison exon.^[9]