DISEASES

Disease-gene associations mined from literature

Literature associating NXF1 and lethal congenital contracture syndrome

NXF1 [ENSP00000436679]

Nuclear RNA export factor 1; Involved in the nuclear export of mRNA species bearing retroviral constitutive transport elements (CTE) and in the export of mRNA from the nucleus to the cytoplasm (TAP/NFX1 pathway) . The NXF1-NXT1 heterodimer is involved in the export of HSP70 mRNA in conjunction with ALYREF/THOC4 and THOC5 components of the TREX complex . ALYREF/THOC4-bound mRNA is thought to be transferred to the NXF1-NXT1 heterodimer for export (PubMed:18364396, PubMed:19165146, PubMed:9660949). Also involved in nuclear export of m6A-containing mRNAs: interaction between SRSF3 and YTHDC1 facilitates m6A-containing mRNA-binding to both SRSF3 and NXF1, promoting mRNA nuclear export . ECO:0000269|PubMed:18364396, ECO:0000269|PubMed:19165146,

Synonyms:  NXF1,  NXF1p,  hNXF1,  B4E227,  E9PIN3 ...

Linkouts:  STRING  Pharos  UniProt