Identity
HGNC
LOCATION
10q25.2
LOCUSID
ALIAS
SMNR,SPF30,TDRD16C
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 10285
MIM: 603519
HGNC: 16900
Ensembl: ENSG00000119953
Variants:
dbSNP: 10285
ClinVar: 10285
TCGA: ENSG00000119953
COSMIC: SMNDC1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000119953 | ENST00000369592 | O75940 |
| ENSG00000119953 | ENST00000369603 | O75940 |
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36044849 | 2022 | SMNDC1 links chromatin remodeling and splicing to regulate pancreatic hormone expression. | 6 |
| 36044849 | 2022 | SMNDC1 links chromatin remodeling and splicing to regulate pancreatic hormone expression. | 6 |
| 33422691 | 2021 | Interactome analysis of the Tudor domain-containing protein SPF30 which associates with the MTR4-exosome RNA-decay machinery under the regulation of AAA-ATPase NVL2. | 2 |
| 33422691 | 2021 | Interactome analysis of the Tudor domain-containing protein SPF30 which associates with the MTR4-exosome RNA-decay machinery under the regulation of AAA-ATPase NVL2. | 2 |
| 31911676 | 2020 | RNA isoform screens uncover the essentiality and tumor-suppressor activity of ultraconserved poison exons. | 44 |
| 31911676 | 2020 | RNA isoform screens uncover the essentiality and tumor-suppressor activity of ultraconserved poison exons. | 44 |
| 28612854 | 2017 | Fragile X mental retardation protein recognizes a G quadruplex structure within the survival motor neuron domain containing 1 mRNA 5'-UTR. | 6 |
| 28612854 | 2017 | Fragile X mental retardation protein recognizes a G quadruplex structure within the survival motor neuron domain containing 1 mRNA 5'-UTR. | 6 |
| 22363433 | 2012 | Crystal structure of TDRD3 and methyl-arginine binding characterization of TDRD3, SMN and SPF30. | 32 |
| 22363433 | 2012 | Crystal structure of TDRD3 and methyl-arginine binding characterization of TDRD3, SMN and SPF30. | 32 |
| 22101937 | 2011 | Structural basis for dimethylarginine recognition by the Tudor domains of human SMN and SPF30 proteins. | 93 |
| 22101937 | 2011 | Structural basis for dimethylarginine recognition by the Tudor domains of human SMN and SPF30 proteins. | 93 |
| 18211889 | 2008 | Splicing factor SPF30 bridges an interaction between the prespliceosome protein U2AF35 and tri-small nuclear ribonucleoprotein protein hPrp3. | 5 |
| 18211889 | 2008 | Splicing factor SPF30 bridges an interaction between the prespliceosome protein U2AF35 and tri-small nuclear ribonucleoprotein protein hPrp3. | 5 |
| 16385451 | 2006 | A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. | 83 |
Citation
Dessen P
SMNDC1 (survival motor neuron domain containing 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/73588/smndc1-(survival-motor-neuron-domain-containing-1)
