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 Isolated Growth Hormone Deficiency, Type Iii and Axenfeld-Rieger Syndrome, Type 1. Among its related pathways are Transcriptional Regulatory Network in Embryonic Stem Cell and Signaling pathways regulating pluripotency of stem cells. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding and transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding. An important paralog of this gene is SHOX2.
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.