Neurexophilin and PC-esterase domain family member 1 (NXPE1)

Neurexophilin and PC-esterase domain family member 1 (NXPE1) is a protein-coding gene and member of the neurexophilin/NXPE family, which includes four genes (NXPE1-4)[1][3][4][5]. NXPE1 encodes a 547 amino acid protein predicted to have an N-terminal transmembrane domain, with the bulk of the protein exposed extracellularly[1]. NXPE1 is expressed predominantly in the colon and rectum, showing tissue-specific alternative splicing[1][6]. Recent evidence supports a role for NXPE1 as a sialic acid O-acetyltransferase: it is capable of transferring an acetyl group from acetyl-CoA to sialic acid moieties (specifically to CMP-Neu5Ac), thereby influencing glycan diversity and mPAS staining in colonic tissue[1]. The sequence and predicted structure of NXPE1 place it in the GDSL/SGNH-like acyl-esterase family, sharing catalytic site features with the human sialic acid O-acetyltransferase CASD1 but with distinct motifs[1]. There is evidence of allelic and isoform-specific expression, with specific SNPs near its promoter region strongly influencing expression levels and subsequent sialoglycan acetylation[1]. Altered expression or function of NXPE1 has been associated with variation in glycan profiles relevant to colorectal cancer, but its direct characterization as a therapeutic target or as a receptor/enzyme with approved drugs is not established[1][4][6].

Other names

NXPE family member 1FAM55AMGC34290Protein FAM55A