Aliases for ESX1 Gene
External Ids for ESX1 Gene
Previous HGNC Symbols for ESX1 Gene
Previous GeneCards Identifiers for ESX1 Gene
This gene encodes a dual-function 65 kDa protein that undergoes proteolytic cleavage to produce a 45 kDa N-terminal fragment with a paired-like homeodomain and a 20 kDa C-terminal fragment with a proline-rich domain. The C-terminal fragment localizes to the cytoplasm while the N-terminal fragment localizes exclusively to the nucleus. In contrast to human, the mouse homolog has a novel PN/PF motif in the C-terminus and is paternally imprinted in placental tissue. This gene likely plays a role in placental development and spermatogenesis. [provided by RefSeq, Jan 2010]
GeneCards Summary for ESX1 Gene
ESX1 (ESX Homeobox 1) is a Protein Coding gene. Diseases associated with ESX1 include allan-herndon-dudley syndrome and testicular germ cell tumor. Among its related pathways are Transcriptional Regulatory Network in Embryonic Stem Cell. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is RHOXF2.
UniProtKB/Swiss-Prot for ESX1 Gene
May coordinately regulate cell cycle progression and transcription during spermatogenesis. Inhibits degradation of polyubiquitinated cyclin A and cyclin B1 and thereby arrests the cell cycle at early M phase. ESXR1-N acts as a transcriptional repressor. Binds to the sequence 5-TAATGTTATTA-3 which is present within the first intron of the KRAS gene and inhibits its expression. ESXR1-C has the ability to inhibit cyclin turnover.