Target intelligence / Profile preview

Homeobox protein ESX1 (ESX1)

Target
ESX1
Molecular classification
Transcription factor, Homeobox protein
01

Overview

Homeobox protein ESX1 (ESX1) is a dual-function 65 kDa protein primarily expressed in testis and placental tissues. Following proteolytic cleavage, it yields an N-terminal fragment (containing a paired-like homeodomain, localized to the nucleus and acting as a transcriptional repressor) and a C-terminal fragment (proline-rich, cytoplasmic). ESX1 regulates gene expression by binding sequence-specifically to DNA (5'-TAATGTTATTA-3'), notably inhibiting expression of genes such as KRAS. It also plays a critical role in cell cycle regulation by inhibiting the degradation of polyubiquitinated cyclin A and B1, causing cell cycle arrest in early M phase. ESX1 is important for normal spermatogenesis in males and for placental development. Mutations or alterations in this gene have been implicated in male infertility and certain tumors such as adamantinomatous craniopharyngioma[1][2][3][7][8].

Other names
ESX homeobox 1ESX1LESX1RESXR1Extraembryonic, spermatogenesis, homeobox 1Spx1ESX1-related proteinhomeobox protein ESX1-Nhomeobox protein ESX1-Cextraembryonic, spermatogenesis, homeobox 1 homolog
02

Biological functions

Regulation of gene expressionTranscriptional repression (RNA polymerase II-specific)Regulation of cell cycle progressionSpermatogenesisPlacental development
03

Disease associations

Male infertility (including azoospermia, oligozoospermia due to single gene mutation)Adamantinomatous craniopharyngiomaOther (generally associated with germ cell function and placental biology)
04

Biomarkers

May be a biomarker for certain types of male infertility

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