SOX4

This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins, such as syndecan binding protein (syntenin). The protein may function in the apoptosis pathway leading to cell death as well as to tumorigenesis and may mediate downstream effects of parathyroid hormone (PTH) and PTH-related protein (PTHrP) in bone development. The solution structure has been resolved for the HMG-box of a similar mouse protein. [provided by RefSeq]

SRY (sex determining region Y)-box 4

Transcriptional activator that binds with high affinity to the T-cell enhancer motif 5'-AACAAAG-3' motif (PubMed:30661772).
Required for IL17A-producing Vgamma2-positive gamma-delta T-cell maturation and development, via binding to regulator loci of RORC to modulate expression (By similarity).
Involved in skeletal myoblast differentiation by promoting gene expression of CALD1 (PubMed:26291311).

Biological Process anatomical structure morphogenesisManual Assertion Based On ExperimentIBA:GO_Central
Biological Process ascending aorta morphogenesisISS:BHF-UCL
Biological Process atrial septum primum morphogenesisISS:BHF-UCL
Biological Process cardiac right ventricle morphogenesisISS:BHF-UCL
Biological Process cardiac ventricle formationISS:UniProtKB
Biological Process cell differentiationManual Assertion Based On ExperimentIBA:GO_Central
Biological Process cellular response to glucose stimulusISS:UniProtKB
Biological Process endocrine pancreas developmentIEA:Ensembl
Biological Process glial cell developmentISS:UniProtKB
Biological Process glial cell proliferationISS:UniProtKB
Biological Process glucose homeostasisISS:UniProtKB
Biological Process heart developmentISS:BHF-UCL
Biological Process hematopoietic stem cell homeostasisIEA:Ensembl
Biological Process kidney morphogenesisISS:BHF-UCL
Biological Process limb bud formationISS:UniProtKB
Biological Process mitral valve morphogenesisISS:BHF-UCL
Biological Process negative regulation of cell deathISS:UniProtKB
Biological Process negative regulation of cell population proliferationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process negative regulation of protein ubiquitinationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process neural tube formationISS:UniProtKB
Biological Process neuroepithelial cell differentiationISS:UniProtKB
Biological Process noradrenergic neuron differentiationISS:UniProtKB
Biological Process positive regulation of apoptotic processManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process positive regulation of canonical Wnt signaling pathwayISS:UniProtKB
Biological Process positive regulation of cell population proliferationManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process positive regulation of DNA-templated transcriptionManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process positive regulation of gamma-delta T cell differentiationISS:UniProtKB
Biological Process positive regulation of insulin secretionISS:UniProtKB
Biological Process positive regulation of myoblast differentiationManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process positive regulation of N-terminal peptidyl-lysine acetylationManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process positive regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process positive regulation of translationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process pro-B cell differentiationISS:BHF-UCL
Biological Process protein stabilizationManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process regulation of DNA damage response, signal transduction by p53 class mediatorManual Assertion Based On ExperimentIMP:GO_Central
Biological Process regulation of DNA-templated transcriptionManual Assertion Based On ExperimentIDA:BHF-UCL
Biological Process regulation of protein stabilityManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process skeletal system developmentISS:UniProtKB
Biological Process somatic stem cell population maintenanceIEA:Ensembl
Biological Process spinal cord developmentISS:UniProtKB
Biological Process spinal cord motor neuron differentiationISS:UniProtKB
Biological Process sympathetic nervous system developmentISS:UniProtKB
Biological Process T cell differentiationISS:BHF-UCL
Biological Process ventricular septum morphogenesisISS:BHF-UCL

Nucleus

Coffin-Siris syndrome 10 (CSS10):
A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. CSS10 is characterized by mild to severe intellectual disability, global developmental delay, mild but distinct facial dysmorphism, fifth finger clinodactyly, and small stature. Hypotonia, ventricular septal defect, and spastic quadriparesis may also be present. CSS10 inheritance is autosomal dominant.

Acetylation at Lys-95 by KAT5 promotes the transcription activator activity and is required during myoblast differentiation (PubMed:26291311).
Acetylation by KAT5 abolishes the interaction between SOX4 and HDAC1 and switches SOX4 into a transcriptional activator (PubMed:26291311).