From Wikipedia, the free encyclopedia
Transportin-3 is a protein that in humans is encoded by the TNPO3 gene .[ 5] [ 6] [ 7]
Function
TNPO3 is a nuclear import receptor for serine/arginine-rich (SR) proteins, including Serine/arginine-rich splicing factor 1 , which are essential precursor-mRNA splicing factors .[ 5] [ 7]
Clinical significance
The TNPO3-IRF5 locus is implicated in primary biliary cirrhosis and systemic sclerosis .[ 8]
References
^ a b c GRCh38: Ensembl release 89: ENSG00000064419 – Ensembl , May 2017
^ a b c GRCm38: Ensembl release 89: ENSMUSG00000012535 – 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 .
^ a b Kataoka N, Bachorik JL, Dreyfuss G (Jul 1999). "Transportin-SR, a nuclear import receptor for SR proteins" . J Cell Biol . 145 (6): 1145–52. doi :10.1083/jcb.145.6.1145 . PMC 2133142 . PMID 10366588 .
^ Lai MC, Lin RI, Huang SY, Tsai CW, Tarn WY (Apr 2000). "A human importin-beta family protein, transportin-SR2, interacts with the phosphorylated RS domain of SR proteins". J Biol Chem . 275 (11): 7950–7. doi :10.1074/jbc.275.11.7950 . PMID 10713112 . {{cite journal }}
: CS1 maint: unflagged free DOI (link )
^ a b "Entrez Gene: TNPO3 transportin 3" .
^ Radstake TR, Gorlova O, Rueda B, et al. (May 2010). "Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus" . Nat. Genet . 42 (5): 426–9. doi :10.1038/ng.565 . PMC 2861917 . PMID 20383147 .
Further reading
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