DSTYK gene

dual serine/threonine and tyrosine protein kinase

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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, Dec 2008]

From UniProt:

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).

From NCBI Gene:

  • Spastic paraplegia 23
  • Congenital anomalies of kidney and urinary tract 1, susceptibility to

From UniProt:

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. [MIM:610805]

Spastic paraplegia 23 (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. [MIM:270750]

Cytogenetic Location: 1q32.1, which is the long (q) arm of chromosome 1 at position 32.1

Molecular Location: base pairs 205,142,497 to 205,211,599 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1q32.1, which is the long (q) arm of chromosome 1 at position 32.1
  • CAKUT1
  • DustyPK
  • HDCMD38P
  • RIP5
  • RIPK5
  • SPG23