GSTK1
Description
The GSTK1 (glutathione S-transferase kappa 1) is a protein-coding gene located on chromosome 7.
GSTK1, or Glutathione S-transferase kappa 1, is an enzyme encoded by the GSTK1 gene located on chromosome seven in humans. It belongs to the glutathione S-transferase (GST) superfamily, primarily known for cellular detoxification. The GSTK1 gene comprises eight exons and seven introns, and although a member of the GST family, its structure resembles bacterial HCCA (2-hydroxychromene-2-carboxylate) isomerases and bacterial DsbA oxidoreductase, leading to its alternative name, DsbA-L. Variations in the GSTK1 gene have been linked to metabolic diseases and certain cancers. The GSTK1 enzyme is a homodimer, containing a TRX-like domain and a helical domain. However, its secondary structure differs significantly from other GSTs, with the helical domain situated between the βαβ and ββα motifs of the TRX-like domain instead of the typical arrangement. The GSTK1 dimer adopts a butterfly shape, unlike the V-shaped crevice seen in other GST classes. The GSTK1 gene spans ~5 kb, possesses eight exons, resides on chromosome 7q34, and utilizes an initiator element at the transcription start site rather than a TATA or CCAAT box. Although initial research suggested GSTK1 promotes adiponectin multimerization in the endoplasmic reticulum (ER), subsequent studies have refuted this claim.
GSTK1 is also known as GST, GST 13-13, GST13, GST13-13, GSTK1-1, hGSTK1.
Associated Diseases
- familial idiopathic steroid-resistant nephrotic syndrome
- cancer
- nephronophthisis
- renal dysplasia
- C3 glomerulonephritis
- Ochoa syndrome
- Frasier syndrome
- acquired partial lipodystrophy
- nail-patella-like renal disease
- Dent disease
- focal segmental glomerulosclerosis 7
- familial juvenile hyperuricemic nephropathy type 2
- nephrotic syndrome 16
- nephronophthisis 3
- complement component 3 deficiency
- immunodeficiency, common variable, 6
- congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization
