Kell antigen system
| Kell protein | |
|---|---|
| Identifiers | |
| Symbol | KEL |
| Alt. symbols | ECE3, CD238 |
| Entrez | 3792 |
| HUGO | 6308 |
| OMIM | 110900 |
| RefSeq | NM_000420 |
| UniProt | P23276 |
| Other data | |
| Locus | Chr. 7 q33 |
The Kell antigen system (also known as Kell–Cellano system) is a group of antigens on the human red blood cell surface which are important determinants of blood type and are targets for autoimmune or alloimmune diseases which destroy red blood cells. Kell can be noted as K, k, or Kp. The Kell antigens are peptides found within the Kell protein, a 93-kilodalton transmembrane zinc-dependent endopeptidase which is responsible for cleaving endothelin-3.
The KEL gene encodes a type II transmembrane glycoprotein that is the highly polymorphic Kell blood group antigen. The Kell glycoprotein links via a single disulfide bond to the XK membrane protein that carries the Kx antigen. The encoded protein contains sequence and structural similarity to members of the neprilysin (M13) family of zinc endopeptidases.
There are several alleles of the gene which creates Kell protein. Two such alleles, K1 (Kell) and K2 (Cellano), are the most common. The kell protein is tightly bound to a second protein, XK, by a disulfide bond. Absence of the XK protein (such as through genetic deletion or through a single point mutation within the coding region of the XK gene ), leads to marked reduction of the Kell antigens on the red blood cell surface. Absence of the Kell protein (K0), however, does not affect the XK protein.
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