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
Orthologs
SpeciesHumanMouse
Entrez

23534

320938

Ensembl

ENSG00000064419

ENSMUSG00000012535

UniProt

Q9Y5L0

Q6P2B1

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

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

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000064419 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000012535 - 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.
  5. 1 2 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. 1 2 "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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