SULT2B1
Domain
The C-terminus, which contains a proline/serine-rich region is involved in nuclear translocation and enzymatic thermostability.
Function
Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation. Responsible for the sulfation of cholesterol (PubMed:12145317, PubMed:19589875). Catalyzes sulfation of the 3beta-hydroxyl groups of steroids, such as, pregnenolone and dehydroepiandrosterone (DHEA) (PubMed:12145317, PubMed:16855051, PubMed:21855633, PubMed:9799594). Preferentially sulfonates cholesterol, while it has also significant activity with pregnenolone and DHEA (PubMed:12145317, PubMed:21855633). Plays a role in epidermal cholesterol metabolism and in the regulation of epidermal proliferation and differentiation (PubMed:28575648).
Isoform 2
Sulfonates pregnenolone but not cholesterol.
Involvement in disease
Ichthyosis, congenital, autosomal recessive 14
ARCI14
A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated.
Sequence Similarities
Belongs to the sulfotransferase 1 family.
Tissue Specificity
Expressed in the stratum granulosum-stratum corneum junction in the skin (at protein level) (PubMed:28575648). Expressed highly in placenta, prostate and trachea and lower expression in the small intestine and lung (PubMed:9799594).
Cellular localization
- Cytoplasm
- Cytosol
- Microsome
- Nucleus
- Phosphorylation of Ser-348 is required for translocation to the nucleus.
Alternative names
HSST2, SULT2B1, Sulfotransferase 2B1, Alcohol sulfotransferase, Hydroxysteroid sulfotransferase 2, Sulfotransferase family 2B member 1, Sulfotransferase family cytosolic 2B member 1, ST2B1