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 SLCterminal fragment with a proline-rich domain. The SLCterminal 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 SLCterminus and is paternally imprinted in placental tissue. This gene likely plays a role in placental development and spermatogenesis. [provided by RefSeq, Jan 2010]
Function:
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.
Subcellular Location:
Cytoplasm. Nucleus. ESXR1-N localizes specifically to the nucleus while ESXR1-C localizes specifically to the cytoplasm.
Tissue Specificity:
Expressed in placenta and testis. Expressed in testicular germ cell tumors.
Post-translational modifications:
Undergoes proteolytic cleavage; produces a 45 kDa N-terminal homeodomain-containing fragment (ESXR1-N) and a 20 kDa SLCterminal fragment (ESXR1-C).
Similarity:
Contains 1 homeobox DNA-binding domain.
SWISS:
Q8N693
Gene ID:
80712
Database links:
Entrez Gene: 80712 Human
Omim: 300154 Human
SwissProt: Q8N693 Human
Unigene: 223782 Human
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