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
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesSMNDC1, SMNR, SPF30, TDRD16C, Survival motor neuron domain containing 1
External IDsOMIM: 603519; MGI: 1923729; HomoloGene: 4290; GeneCards: SMNDC1; OMA:SMNDC1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_005871

NM_172429
NM_001356986

RefSeq (protein)

NP_005862

NP_766017
NP_001343915

Location (UCSC)Chr 10: 110.29 – 110.3 MbChr 19: 53.37 – 53.38 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000119953Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025024Ensembl, 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.
  5. ^ Neubauer G, King A, Rappsilber J, Calvio C, Watson M, Ajuh P, Sleeman J, Lamond A, Mann M (Oct 1998). "Mass spectrometry and EST-database searching allows characterization of the multi-protein spliceosome complex". Nat Genet. 20 (1): 46–50. doi:10.1038/1700. PMID 9731529. S2CID 585778.
  6. ^ Talbot K, Miguel-Aliaga I, Mohaghegh P, Ponting CP, Davies KE (Jan 1999). "Characterization of a gene encoding survival motor neuron (SMN)-related protein, a constituent of the spliceosome complex". Hum Mol Genet. 7 (13): 2149–56. doi:10.1093/hmg/7.13.2149. PMID 9817934.
  7. ^ "Entrez Gene: SMNDC1 survival motor neuron domain containing 1".
  8. ^ Enders L, Siklos M, Borggräfe J, Gaussmann S, Koren A, Malik M, Tomek T, Schuster M, Reiniš J, Hahn E, Rukavina A, Reicher A, Casteels T, Bock C, Winter GE (2023-08-16). "Pharmacological perturbation of the phase-separating protein SMNDC1". Nature Communications. 14 (1): 4504. Bibcode:2023NatCo..14.4504E. doi:10.1038/s41467-023-40124-0. ISSN 2041-1723. PMC 10432564. PMID 37587144.
  9. ^ Belleville AE, Thomas JD, Tonnies J, Gabel AM, Borrero Rossi A, Singh P, Queitsch C, Bradley RK (2024-08-16). 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. ISSN 1553-7404. PMC 11357089. PMID 39150991.

Further reading

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