Transportin-3

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

TNPO3
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4C0O, 4C0P, 4C0Q, 4OL0
Identifiers
Aliases	TNPO3, IPO12, LGMD1F, MTR10A, TRN-SR, TRN-SR2, TRNSR, transportin 3, LGMDD2
External IDs	OMIM: 610032 MGI: 1196412 HomoloGene: 40848 GeneCards: TNPO3
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7q32.1 Start 128,954,180 bp[1] End 129,055,173 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6 A3.3|6 12.36 cM Start 29,540,827 bp[2] End 29,609,887 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • nuclear localization sequence binding • GO:0001948 protein binding • identical protein binding • signaling receptor activity • nuclear import signal receptor activity Cellular component • cytoplasm • nuclear membrane • intracellular membrane-bounded organelle • cell nucleus Biological process • protein transport • signal transduction • protein import into nucleus • transport Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	23534	320938
Ensembl	ENSG00000064419	ENSMUSG00000012535
UniProt	Q9Y5L0	Q6P2B1
RefSeq (mRNA)	NM_001191028 NM_012470	NM_177296 NM_001347079 NM_001361290
RefSeq (protein)	NP_001177957 NP_036602 NP_001369145 NP_001369146 NP_001369147 NP_001369148 NP_001369149 NP_001369150 NP_001369151 NP_001369152 NP_036602.1	NP_001334008 NP_796270 NP_001348219
Location (UCSC)	Chr 7: 128.95 – 129.06 Mb	Chr 6: 29.54 – 29.61 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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. GRCh38: Ensembl release 89: ENSG00000064419 - Ensembl, May 2017
2. 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. 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. "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

• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
• Lai MC, Lin RI, Tarn WY (2001). "Transportin-SR2 mediates nuclear import of phosphorylated SR proteins". Proc. Natl. Acad. Sci. U.S.A. 98 (18): 10154–9. doi:10.1073/pnas.181354098. PMC 56931. PMID 11517331.
• Allemand E, Dokudovskaya S, Bordonné R, Tazi J (2003). "A conserved Drosophila transportin-serine/arginine-rich (SR) protein permits nuclear import of Drosophila SR protein splicing factors and their antagonist repressor splicing factor 1". Mol. Biol. Cell. 13 (7): 2436–47. doi:10.1091/mbc.E02-02-0102. PMC 117325. PMID 12134081.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Scherer SW, Cheung J, MacDonald JR, et al. (2003). "Human chromosome 7: DNA sequence and biology". Science. 300 (5620): 767–72. doi:10.1126/science.1083423. PMC 2882961. PMID 12690205.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Colland F, Jacq X, Trouplin V, et al. (2004). "Functional proteomics mapping of a human signaling pathway". Genome Res. 14 (7): 1324–32. doi:10.1101/gr.2334104. PMC 442148. PMID 15231748.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Tsang HT, Connell JW, Brown SE, et al. (2006). "A systematic analysis of human CHMP protein interactions: additional MIT domain-containing proteins bind to multiple components of the human ESCRT III complex". Genomics. 88 (3): 333–46. doi:10.1016/j.ygeno.2006.04.003. PMID 16730941.
• Ewing RM, Chu P, Elisma F, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.