Survival motor neuron domain containing 1

SMNDC1
Identifiers
Aliases	SMNDC1, SMNR, SPF30, TDRD16C, Survival motor neuron domain containing 1
External IDs	OMIM: 603519; MGI: 1923729; GeneCards: SMNDC1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4A4F, 4A4H
Gene location (Human)
Chr.	Chromosome 10 (human)
End	110,304,938 bp
Gene location (Mouse)
Chr.	Chromosome 19 (mouse)
End	53,379,009 bp
RNA expression pattern
	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
	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
Databases	NCBI: entry; OMA: entry
	10285
	76479
	ENSG00000119953
	ENSMUSG00000025024
	O75940
	Q8BGT7
	NM_005871
	NM_172429; NM_001356986
	NP_005862
	NP_766017; NP_001343915
	Wikidata
View/Edit Human	View/Edit Mouse

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

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000119953 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000025024 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Neubauer G, King A, Rappsilber J, Calvio C, Watson M, Ajuh P, et al. (October 1998). "Mass spectrometry and EST-database searching allows characterization of the multi-protein spliceosome complex". Nature Genetics. 20 (1): 46–50. doi:10.1038/1700. PMID 9731529. S2CID 585778.
↑ Talbot K, Miguel-Aliaga I, Mohaghegh P, Ponting CP, Davies KE (January 1999). "Characterization of a gene encoding survival motor neuron (SMN)-related protein, a constituent of the spliceosome complex". Human Molecular Genetics. 7 (13): 2149–2156. doi:10.1093/hmg/7.13.2149. PMID 9817934.
↑ "Entrez Gene: SMNDC1 survival motor neuron domain containing 1".
↑ Enders L, Siklos M, Borggräfe J, Gaussmann S, Koren A, Malik M, et al. (August 2023). "Pharmacological perturbation of the phase-separating protein SMNDC1". Nature Communications. 14 (1) 4504. Bibcode:2023NatCo..14.4504E. doi:10.1038/s41467-023-40124-0. PMC 10432564. PMID 37587144.
↑ Belleville AE, Thomas JD, Tonnies J, Gabel AM, Borrero Rossi A, Singh P, et al. (August 2024). Copenhaver GP (ed.). "An autoregulatory poison exon in Smndc1 is conserved across kingdoms and influences organism growth". PLoS Genetics. 20 (8) e1011363. doi:10.1371/journal.pgen.1011363. PMC 11357089. PMID 39150991.

External links

SMNDC1 human gene location in the UCSC Genome Browser.
SMNDC1 human gene details in the UCSC Genome Browser.

This article on a gene on human chromosome 10 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000119953 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000025024 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[Neubauer_1998-5] Neubauer G, King A, Rappsilber J, Calvio C, Watson M, Ajuh P, et al. (October 1998). "Mass spectrometry and EST-database searching allows characterization of the multi-protein spliceosome complex". Nature Genetics. 20 (1): 46–50. doi:10.1038/1700. PMID 9731529. S2CID 585778.

[Talbot_1999-6] Talbot K, Miguel-Aliaga I, Mohaghegh P, Ponting CP, Davies KE (January 1999). "Characterization of a gene encoding survival motor neuron (SMN)-related protein, a constituent of the spliceosome complex". Human Molecular Genetics. 7 (13): 2149–2156. doi:10.1093/hmg/7.13.2149. PMID 9817934.

[entrez-7] "Entrez Gene: SMNDC1 survival motor neuron domain containing 1".

[8] Enders L, Siklos M, Borggräfe J, Gaussmann S, Koren A, Malik M, et al. (August 2023). "Pharmacological perturbation of the phase-separating protein SMNDC1". Nature Communications. 14 (1) 4504. Bibcode:2023NatCo..14.4504E. doi:10.1038/s41467-023-40124-0. PMC 10432564. PMID 37587144.

[9] Belleville AE, Thomas JD, Tonnies J, Gabel AM, Borrero Rossi A, Singh P, et al. (August 2024). Copenhaver GP (ed.). "An autoregulatory poison exon in Smndc1 is conserved across kingdoms and influences organism growth". PLoS Genetics. 20 (8) e1011363. doi:10.1371/journal.pgen.1011363. PMC 11357089. PMID 39150991.

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Survival motor neuron domain containing 1

References

Further reading

External links