Transportin-3

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; OMA:TNPO3 - orthologs
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 29,540,826 bp [2] End 29,609,886 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte tendon of biceps brachii internal globus pallidus pars reticulata pars compacta lateral nuclear group of thalamus external globus pallidus olfactory bulb dorsal motor nucleus of vagus nerve beta cell Top expressed in epiblast maxillary prominence mandibular prominence spermatocyte Ileal epithelium ventricular zone Rostral migratory stream tail of embryo epithelium of lens renal corpuscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nuclear localization sequence binding protein binding identical protein binding signaling receptor activity nuclear import signal receptor activity Cellular component cytoplasm nuclear membrane intracellular membrane-bounded organelle 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

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. 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. Bibcode:2002PNAS...9916899M. 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. Bibcode:2003Sci...300..767S. 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.