Transportin-3

TNPO3
Identifiers
Aliases	TNPO3, IPO12, LGMD1F, MTR10A, TRN-SR, TRN-SR2, TRNSR, transportin 3, LGMDD2
External IDs	OMIM: 610032; MGI: 1196412; GeneCards: TNPO3
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4C0O, 4C0P, 4C0Q, 4OL0
Gene location (Human)
Chr.	Chromosome 7 (human)
End	129,055,173 bp
Gene location (Mouse)
Chr.	Chromosome 6 (mouse)
End	29,609,886 bp
RNA expression pattern
	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
	; ; ; ;
	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
Databases	NCBI: entry; OMA: entry
	23534
	320938
	ENSG00000064419
	ENSMUSG00000012535
	Q9Y5L0
	Q6P2B1
	NM_001191028; NM_012470
	NM_177296; NM_001347079; NM_001361290
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
	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 2 3 GRCh38: Ensembl release 89: ENSG00000064419 – Ensembl, May 2017
1 2 3 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.
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.
↑ 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.
1 2 "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.

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.

This article on a gene on human chromosome 7 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000064419 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid10366588-5] 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.

[pmid10713112-6] 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.

[entrez-7] 1 2 "Entrez Gene: TNPO3 transportin 3".

[pmid20383147-8] 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.

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Transportin-3

Function

Clinical significance

References

Further reading