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Transportin-3

From Wikipedia, the free encyclopedia
TNPO3
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesTNPO3, IPO12, LGMD1F, MTR10A, TRN-SR, TRN-SR2, TRNSR, transportin 3, LGMDD2
External IDsOMIM: 610032; MGI: 1196412; HomoloGene: 40848; GeneCards: TNPO3; OMA:TNPO3 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001191028
NM_012470

NM_177296
NM_001347079
NM_001361290

RefSeq (protein)

NP_001334008
NP_796270
NP_001348219

Location (UCSC)Chr 7: 128.95 – 129.06 MbChr 6: 29.54 – 29.61 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Transportin-3 is a protein that in humans is encoded by the TNPO3 gene.[5][6][7]

Function

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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

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The TNPO3-IRF5 locus is implicated in primary biliary cirrhosis and systemic sclerosis.[8]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000064419Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000012535Ensembl, 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. ^ 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.
  6. ^ 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.
  7. ^ a b "Entrez Gene: TNPO3 transportin 3".
  8. ^ 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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