DISEASES

Disease-gene associations mined from literature

Literature associating TNPO3 and autosomal recessive limb-girdle muscular dystrophy type 2O

TNPO3 [ENSP00000265388]

Transportin-3; Importin, which transports target proteins into the nucleus (PubMed:10366588, PubMed:10713112, PubMed:11517331, PubMed:12628928, PubMed:24449914). Specifically mediates the nuclear import of splicing factor serine/arginine (SR) proteins, such as RBM4, SFRS1 and SFRS2, by recognizing phosphorylated SR domains (PubMed:10366588, PubMed:10713112, PubMed:11517331, PubMed:12628928, PubMed:24449914). Also mediates the nuclear import of serine/arginine (SR) protein CPSF6, independently of CPSF6 phosphorylation (PubMed:30916345, PubMed:31465518). The nuclear import process is regulated by the small GTPase Ran that partitions between cytoplasm and nucleus in the predominantly GDP- and GTP-bound form, respectively (PubMed:23878195, PubMed:24449914). Importin associates with target cargo proteins in the cytoplasm, and the competitive binding of GTP-bound Ran induces the release of cargos in the nucleus . ECO:0000269|PubMed:11517331, ECO:0000269|PubMed:12628928, ECO:0000269|PubMed:23878195, ECO:0000269|PubMed:24449914,

Synonyms:  TNPO3,  TNPO3p,  hTNPO3,  A0A024R794,  C9J7E5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM