Transportin-3

Protein-coding gene in the species Homo sapiens
TNPO3
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

4C0O, 4C0P, 4C0Q, 4OL0

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
Gene location (Human)
Chromosome 7 (human)
Chr.Chromosome 7 (human)[1]
Chromosome 7 (human)
Genomic location for TNPO3
Genomic location for TNPO3
Band7q32.1Start128,954,180 bp[1]
End129,055,173 bp[1]
Gene location (Mouse)
Chromosome 6 (mouse)
Chr.Chromosome 6 (mouse)[2]
Chromosome 6 (mouse)
Genomic location for TNPO3
Genomic location for TNPO3
Band6 A3.3|6 12.36 cMStart29,540,826 bp[2]
End29,609,886 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
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_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 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. ^ a b c GRCh38: Ensembl release 89: ENSG00000064419 – Ensembl, May 2017
  2. ^ a b c 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. ^ 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

  • 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.


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