CUX1

CUX1 (Cut Like Homeobox 1) is a Protein Coding gene. Diseases associated with CUX1 include Fiedler's Myocarditis and Dirofilariasis. Among its related pathways are Vesicle-mediated transport and Signaling by FGFR2 in disease. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding and RNA polymerase II regulatory region sequence-specific DNA binding. An important paralog of this gene is CUX2.

Full Name

Cut Like Homeobox 1

Function

Transcription factor involved in the control of neuronal differentiation in the brain. Regulates dendrite development and branching, and dendritic spine formation in cortical layers II-III. Also involved in the control of synaptogenesis. In addition, it has probably a broad role in mammalian development as a repressor of developmentally regulated gene expression. May act by preventing binding of positively-activing CCAAT factors to promoters. Component of nf-munr repressor; binds to the matrix attachment regions (MARs) (5' and 3') of the immunoglobulin heavy chain enhancer. Represses T-cell receptor (TCR) beta enhancer function by binding to MARbeta, an ATC-rich DNA sequence located upstream of the TCR beta enhancer. Binds to the TH enhancer; may require the basic helix-loop-helix protein TCF4 as a coactivator.

CDP/Cux p110:
Plays a role in cell cycle progression, in particular at the G1/S transition. As cells progress into S phase, a fraction of CUX1 molecules is proteolytically processed into N-terminally truncated proteins of 110 kDa. While CUX1 only transiently binds to DNA and carries the CCAAT-displacement activity, CDP/Cux p110 makes a stable interaction with DNA and stimulates expression of genes such as POLA1.

Biological Process

Multicellular organism development Source: ProtInc
Negative regulation of transcription by RNA polymerase II Source: ProtInc
Positive regulation of dendrite morphogenesis Source: UniProtKB
Regulation of transcription by RNA polymerase II Source: GO_Central
Retrograde transport, vesicle recycling within Golgi Source: Ensembl

Cellular Location

Nucleus

Involvement in disease

Global developmental delay with or without impaired intellectual development (GDDI):
An autosomal dominant disorder characterized by global developmental delay associated with mild-to-moderate intellectual disability, hypotonia and short stature in some patients.

PTM

Phosphorylated by PKA.
As cells progress into S phase, a fraction of CUX1 molecules is proteolytically processed into N-terminally truncated proteins of 110 kDa by CTSL. Cell cycle-dependent processing of CUX1 serves to generate a CDP/Cux p110 with distinct DNA binding and transcriptional properties.