DSTYK

This gene encodes a dual serine/threonine and tyrosine protein kinase which is expressed in multiple tissues. It is thought to function as a regulator of cell death. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq]

Full Name

dual serine/threonine and tyrosine protein kinase

Research Area

Acts as a positive regulator of ERK phosphorylation downstream of fibroblast growth factor-receptor activation (PubMed:23862974, PubMed:28157540).

Involved in the regulation of both caspase-dependent apoptosis and caspase-independent cell death (PubMed:15178406).

In the skin, it plays a predominant role in suppressing caspase-dependent apoptosis in response to UV stress in a range of dermal cell types (PubMed:28157540).

Biological Process

Cellular response to fibroblast growth factor stimulus Source: UniProtKB
Negative regulation of apoptotic process Source: UniProtKB
Positive regulation of ERK1 and ERK2 cascade Source: UniProtKB
Positive regulation of fibroblast growth factor receptor signaling pathway Source: UniProtKB
Positive regulation of kinase activity Source: UniProtKB

Cellular Location

Cell membrane; Apical cell membrane; Basolateral cell membrane; Cytoplasm; Cell junction. Detected at apical cell-cell junctions. Colocalized with FGF receptors to the cell membrane (By similarity). Detected in basolateral and apical membranes of all tubular epithelia.

Involvement in disease

Congenital anomalies of the kidney and urinary tract 1 (CAKUT1):
A disorder encompassing a broad spectrum of renal and urinary tract malformations that include renal agenesis, kidney hypodysplasia, multicystic kidney dysplasia, duplex collecting system, posterior urethral valves and ureter abnormalities. Congenital anomalies of kidney and urinary tract are the commonest cause of chronic kidney disease in children.
Spastic paraplegia 23, autosomal recessive (SPG23):
A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG23 is an autosomal recessive form characterized by childhood-onset of gait difficulties and pigmentary abnormalities, including premature graying of the hair and vitiligo-like or hyperpigmented skin lesions.