Survival motor neuron domain containing 1

SMNDC1

Identifiers

SMNDC1, SMNR, SPF30, TDRD16C, Survival motor neuron domain containing 1

External IDs

OMIM: 603519; MGI: 1923729; GeneCards: SMNDC1

Available structures

Ortholog search: PDBe RCSB

List of PDB id codes
4A4F, 4A4H

Gene location (Human)

Chr.	Chromosome 10 (human)

Band	10q25.2	Start	110,290,730 bp
Band	10q25.2	End	110,304,938 bp

Gene location (Mouse)

Chr.	Chromosome 19 (mouse)

Band	19\|19 D2	Start	53,367,821 bp
Band	19\|19 D2	End	53,379,009 bp

RNA expression pattern

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


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

Databases

NCBI: entry; OMA: entry

Species

Human

Mouse


10285


76479


ENSG00000119953


ENSMUSG00000025024


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

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.

SMNDC1 is an important splicing regulator and is itself regulated by alternative splicing via inclusion a highly conserved poison exon.

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.

Further reading

Rappsilber J, Ajuh P, Lamond AI, Mann M (2001). "SPF30 is an essential human splicing factor required for assembly of the U4/U5/U6 tri-small nuclear ribonucleoprotein into the spliceosome". The Journal of Biological Chemistry. 276 (33): 31142–31150. doi:10.1074/jbc.M103620200. PMID 11331295.
Meister G, Hannus S, Plöttner O, Baars T, Hartmann E, Fakan S, et al. (May 2001). "SMNrp is an essential pre-mRNA splicing factor required for the formation of the mature spliceosome". The EMBO Journal. 20 (9): 2304–2314. doi:10.1093/emboj/20.9.2304. PMC 125440. PMID 11331595.
Narayanan U, Achsel T, Lührmann R, Matera AG (2004). "Coupled in vitro import of U snRNPs and SMN, the spinal muscular atrophy protein". Molecular Cell. 16 (2): 223–234. doi:10.1016/j.molcel.2004.09.024. hdl:11858/00-001M-0000-0012-EC0E-7. PMID 15494309.
Andersen JS, Lam YW, Leung AK, Ong SE, Lyon CE, Lamond AI, et al. (January 2005). "Nucleolar proteome dynamics". Nature. 433 (7021): 77–83. Bibcode:2005Natur.433...77A. doi:10.1038/nature03207. PMID 15635413. S2CID 4344740.
Beausoleil SA, Villén J, Gerber SA, Rush J, Gygi SP (October 2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization". Nature Biotechnology. 24 (10): 1285–1292. doi:10.1038/nbt1240. PMID 16964243. S2CID 14294292.
Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.
Casteels T, Bajew S, Reiniš J, Enders L, Schuster M, Fontaine F, et al. (August 2022). "SMNDC1 links chromatin remodeling and splicing to regulate pancreatic hormone expression". Cell Reports. 40 (9) 111288. doi:10.1016/j.celrep.2022.111288. hdl:10230/54590. PMID 36044849.

External links

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

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