ASPHD1 Human
Description
ASPHD1 is fused to a 23 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.
Product Specs
Product Science Overview
Aspartate Beta-Hydroxylase Domain Containing 1 (ASPHD1) is a protein-coding gene that belongs to the aspartyl/asparaginyl beta-hydroxylase family. This gene encodes a protein that is involved in the modification of peptidyl-amino acids, specifically through its dioxygenase activity. ASPHD1 is an important paralog of aspartate beta-hydroxylase (ASPH), which is a type 2 transmembrane protein and part of the α-ketoglutarate (αKG)-dependent dioxygenases family .
The ASPHD1 gene is located on chromosome 16 and is known to produce a protein that consists of 318 amino acids with a molecular mass of approximately 33.6 kDa . The protein is non-glycosylated and is produced in E. coli for recombinant purposes . The gene has several aliases, including ASPH1 and EC 1.14.11, and is associated with various pathways and disorders .
ASPHD1 is predicted to enable dioxygenase activity, which is crucial for the hydroxylation of aspartate residues in proteins. This modification is important for the proper functioning of various proteins and enzymes. The protein is also predicted to be an integral component of the membrane, suggesting its involvement in membrane-associated processes .
ASPHD1 has been associated with several diseases, including Autosomal Dominant Intellectual Developmental Disorder 6 and Chromosome 15Q26-Qter Deletion Syndrome . Recent studies have also indicated that ASPHD1 may play a role in cancer progression, particularly in skin cutaneous melanoma (SKCM). The expression level of ASPHD1 has been found to be significantly upregulated in several cancers, including SKCM, and is associated with patient survival . The protein’s role in the regulation of the tumor immune microenvironment and its association with immune checkpoint markers like CTLA4 and CD276 further highlight its clinical importance .
The recombinant form of ASPHD1 is used in various research applications, including the study of its role in cancer and other diseases. The protein’s involvement in peptidyl-amino acid modification makes it a valuable target for understanding the mechanisms of protein function and regulation. Additionally, the study of ASPHD1’s interaction with other proteins and its role in cellular processes can provide insights into potential therapeutic targets for diseases associated with its dysregulation .
