(Heterogeneous Nuclear Ribonucleoprotein R (HNRNPR))
Kategorien
This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that bind to RNAs and also contains a nuclear localization motif. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008].
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Duijkers, McDonald, Janssens, Lezzerini, Jongejan, van Koningsbruggen, Leeuwenburgh-Pronk, Wlodarski, Moutton, Tran-Mau-Them, Thauvin-Robinet, Faivre, Monaghan, Smol, Boute-Benejean, Ladda, Sell et al.: "HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans. ..." in: American journal of human genetics, Vol. 104, Issue 6, pp. 1040-1059, (2019) (PubMed).
Dombert, Sivadasan, Simon, Jablonka, Sendtner: "Presynaptic localization of Smn and hnRNP R in axon terminals of embryonic and postnatal mouse motoneurons." in: PLoS ONE, Vol. 9, Issue 10, pp. e110846, (2014) (PubMed).
Szafranski, Schindler, Taudien, Hiller, Huse, Jahn, Schreiber, Backofen, Platzer: "Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns." in: Genome biology, Vol. 8, Issue 8, pp. R154, (2008) (PubMed).
Synonyme und alternative Namen zu HNRNPR
heterogeneous nuclear ribonucleoprotein R (hnrnpr), heterogeneous nuclear ribonucleoprotein R (HNRNPR), heterogeneous nuclear ribonucleoprotein R (Hnrnpr), 2610003J05Rik, 2610528B01Rik, hnRNP-R, hnRNP R, hnrpr, HNRPR, Hnrpr, wu:fb97a09, wu:fe01h03, zgc:56523